Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222295578C>A | CA351113141 | PAX3 | c.401G>T (p.Arg134Leu) n.782G>T c.398G>T (p.Arg133Leu) c.545G>T (p.Arg182Leu) | |
2 | g.222295578C>G | CA351113142 | PAX3 | c.401G>C (p.Arg134Pro) n.782G>C c.398G>C (p.Arg133Pro) c.545G>C (p.Arg182Pro) | |
2 | g.222295578C>T | CA351113143 | PAX3 | c.401G>A (p.Arg134Gln) n.782G>A c.398G>A (p.Arg133Gln) c.545G>A (p.Arg182Gln) | |
2 | g.222295579G>A | CA351113144 | PAX3 | c.400C>T (p.Arg134Ter) n.781C>T c.397C>T (p.Arg133Ter) c.544C>T (p.Arg182Ter) | |
2 | g.222295579G>C | CA351113145 | PAX3 | c.400C>G (p.Arg134Gly) n.781C>G c.397C>G (p.Arg133Gly) c.544C>G (p.Arg182Gly) | |
2 | g.222295579G= | CA1330545790 | PAX3 | c.400C= (p.Arg134=) n.781C= c.397C= (p.Arg133=) c.544C= (p.Arg182=) | |
2 | g.222295579G>T | CA431575827 | PAX3 | c.400C>A (p.Arg134=) n.781C>A c.397C>A (p.Arg133=) c.544C>A (p.Arg182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295580G>A | CA431575828 | PAX3 | c.399C>T (p.Ile133=) n.780C>T c.396C>T (p.Ile132=) c.543C>T (p.Ile181=) | gnomAD v4 |
2 | g.222295580G>C | CA351113146 | PAX3 | c.399C>G (p.Ile133Met) n.780C>G c.396C>G (p.Ile132Met) c.543C>G (p.Ile181Met) | |
2 | g.222295580G>T | CA431575829 | PAX3 | c.399C>A (p.Ile133=) n.780C>A c.396C>A (p.Ile132=) c.543C>A (p.Ile181=) | gnomAD v4 |
2 | g.222295580_222295593delinsGATTTCCCAGCTGA | CA1330545791 | PAX3 | c.386_399delinsTCAGCTGGGAAATC (p.Phe129=) n.767_780delinsTCAGCTGGGAAATC c.383_396delinsTCAGCTGGGAAATC (p.Phe128=) c.530_543delinsTCAGCTGGGAAATC (p.Phe177=) | |
2 | g.222295581A>C | CA351113147 | PAX3 | c.398T>G (p.Ile133Ser) n.779T>G c.395T>G (p.Ile132Ser) c.542T>G (p.Ile181Ser) | |
2 | g.222295581A>G | CA351113149 | PAX3 | c.398T>C (p.Ile133Thr) n.779T>C c.395T>C (p.Ile132Thr) c.542T>C (p.Ile181Thr) | |
2 | g.222295581A>T | CA351113148 | PAX3 | c.398T>A (p.Ile133Asn) n.779T>A c.395T>A (p.Ile132Asn) c.542T>A (p.Ile181Asn) | |
2 | g.222295582_222295594del | CA913190010 | PAX3 | c.386_398del (p.Phe129SerfsTer19) n.767_779del c.383_395del (p.Phe128SerfsTer19) c.530_542del (p.Phe177SerfsTer19) | ClinVar dbSNP |
2 | g.222295582T>A | CA351113150 | PAX3 | c.397A>T (p.Ile133Phe) n.778A>T c.394A>T (p.Ile132Phe) c.541A>T (p.Ile181Phe) | |
2 | g.222295582T>C | CA351113151 | PAX3 | c.397A>G (p.Ile133Val) n.778A>G c.394A>G (p.Ile132Val) c.541A>G (p.Ile181Val) | |
2 | g.222295582T>G | CA351113152 | PAX3 | c.397A>C (p.Ile133Leu) n.778A>C c.394A>C (p.Ile132Leu) c.541A>C (p.Ile181Leu) | |
2 | g.222295583T>A | CA351113153 | PAX3 | c.396A>T (p.Glu132Asp) n.777A>T c.393A>T (p.Glu131Asp) c.540A>T (p.Glu180Asp) | |
2 | g.222295583T>C | CA431575830 | PAX3 | c.396A>G (p.Glu132=) n.777A>G c.393A>G (p.Glu131=) c.540A>G (p.Glu180=) | |
2 | g.222295583T>G | CA351113154 | PAX3 | c.396A>C (p.Glu132Asp) n.777A>C c.393A>C (p.Glu131Asp) c.540A>C (p.Glu180Asp) | COSMIC COSMIC COSMIC |
2 | g.222295584T>A | CA351113157 | PAX3 | c.395A>T (p.Glu132Val) n.776A>T c.392A>T (p.Glu131Val) c.539A>T (p.Glu180Val) | |
2 | g.222295584T>C | CA351113156 | PAX3 | c.395A>G (p.Glu132Gly) n.776A>G c.392A>G (p.Glu131Gly) c.539A>G (p.Glu180Gly) | |
2 | g.222295584T>G | CA351113155 | PAX3 | c.395A>C (p.Glu132Ala) n.776A>C c.392A>C (p.Glu131Ala) c.539A>C (p.Glu180Ala) | |
2 | g.222295585C>A | CA351113158 | PAX3 | c.394G>T (p.Glu132Ter) n.775G>T c.391G>T (p.Glu131Ter) c.538G>T (p.Glu180Ter) | |
2 | g.222295585C>G | CA351113159 | PAX3 | c.394G>C (p.Glu132Gln) n.775G>C c.391G>C (p.Glu131Gln) c.538G>C (p.Glu180Gln) | |
2 | g.222295585C>T | CA351113160 | PAX3 | c.394G>A (p.Glu132Lys) n.775G>A c.391G>A (p.Glu131Lys) c.538G>A (p.Glu180Lys) | gnomAD v4 |
2 | g.222295586C>A | CA351113161 | PAX3 | c.393G>T (p.Trp131Cys) n.774G>T c.390G>T (p.Trp130Cys) c.537G>T (p.Trp179Cys) | |
2 | g.222295586C>G | CA351113162 | PAX3 | c.393G>C (p.Trp131Cys) n.774G>C c.390G>C (p.Trp130Cys) c.537G>C (p.Trp179Cys) | |
2 | g.222295586C>T | CA351113163 | PAX3 | c.393G>A (p.Trp131Ter) n.774G>A c.390G>A (p.Trp130Ter) c.537G>A (p.Trp179Ter) | |
2 | g.222295587C>A | CA351113164 | PAX3 | c.392G>T (p.Trp131Leu) n.773G>T c.389G>T (p.Trp130Leu) c.536G>T (p.Trp179Leu) | |
2 | g.222295587C= | CA1330545792 | PAX3 | c.392G= (p.Trp131=) n.773G= c.389G= (p.Trp130=) c.536G= (p.Trp179=) | |
2 | g.222295587C>G | CA2135752 | PAX3 | c.392G>C (p.Trp131Ser) n.773G>C c.389G>C (p.Trp130Ser) c.536G>C (p.Trp179Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295587C>T | CA351113165 | PAX3 | c.392G>A (p.Trp131Ter) n.773G>A c.389G>A (p.Trp130Ter) c.536G>A (p.Trp179Ter) | |
2 | g.222295588A= | CA1330545793 | PAX3 | c.391T= (p.Trp131=) n.772T= c.388T= (p.Trp130=) c.535T= (p.Trp179=) | |
2 | g.222295588A>C | CA351113166 | PAX3 | c.391T>G (p.Trp131Gly) n.772T>G c.388T>G (p.Trp130Gly) c.535T>G (p.Trp179Gly) | |
2 | g.222295588A>G | CA351113167 | PAX3 | c.391T>C (p.Trp131Arg) n.772T>C c.388T>C (p.Trp130Arg) c.535T>C (p.Trp179Arg) | |
2 | g.222295588A>T | CA351113168 | PAX3 | c.391T>A (p.Trp131Arg) n.772T>A c.388T>A (p.Trp130Arg) c.535T>A (p.Trp179Arg) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC |
2 | g.222295589G>A | CA431575832 | PAX3 | c.390C>T (p.Ser130=) n.771C>T c.387C>T (p.Ser129=) c.534C>T (p.Ser178=) | |
2 | g.222295589G>C | CA351113169 | PAX3 | c.390C>G (p.Ser130Arg) n.771C>G c.387C>G (p.Ser129Arg) c.534C>G (p.Ser178Arg) | |
2 | g.222295589G>T | CA351113170 | PAX3 | c.390C>A (p.Ser130Arg) n.771C>A c.387C>A (p.Ser129Arg) c.534C>A (p.Ser178Arg) | |
2 | g.222295590C>A | CA351113171 | PAX3 | c.389G>T (p.Ser130Ile) n.770G>T c.386G>T (p.Ser129Ile) c.533G>T (p.Ser178Ile) | |
2 | g.222295590C>G | CA351113172 | PAX3 | c.389G>C (p.Ser130Thr) n.770G>C c.386G>C (p.Ser129Thr) c.533G>C (p.Ser178Thr) | |
2 | g.222295590C>T | CA351113173 | PAX3 | c.389G>A (p.Ser130Asn) n.770G>A c.386G>A (p.Ser129Asn) c.533G>A (p.Ser178Asn) | gnomAD v4 |
2 | g.222295591T>A | CA351113174 | PAX3 | c.388A>T (p.Ser130Cys) n.769A>T c.385A>T (p.Ser129Cys) c.532A>T (p.Ser178Cys) | |
2 | g.222295591T>C | CA351113175 | PAX3 | c.388A>G (p.Ser130Gly) n.769A>G c.385A>G (p.Ser129Gly) c.532A>G (p.Ser178Gly) | |
2 | g.222295591T>G | CA351113176 | PAX3 | c.388A>C (p.Ser130Arg) n.769A>C c.385A>C (p.Ser129Arg) c.532A>C (p.Ser178Arg) | |
2 | g.222295592G>A | CA431575833 | PAX3 | c.387C>T (p.Phe129=) n.768C>T c.384C>T (p.Phe128=) c.531C>T (p.Phe177=) | |
2 | g.222295592G>C | CA351113178 | PAX3 | c.387C>G (p.Phe129Leu) n.768C>G c.384C>G (p.Phe128Leu) c.531C>G (p.Phe177Leu) | |
2 | g.222295592G>T | CA351113177 | PAX3 | c.387C>A (p.Phe129Leu) n.768C>A c.384C>A (p.Phe128Leu) c.531C>A (p.Phe177Leu) | |
2 | g.222295593A>C | CA351113179 | PAX3 | c.386T>G (p.Phe129Cys) n.767T>G c.383T>G (p.Phe128Cys) c.530T>G (p.Phe177Cys) | |
2 | g.222295593A>G | CA351113180 | PAX3 | c.386T>C (p.Phe129Ser) n.767T>C c.383T>C (p.Phe128Ser) c.530T>C (p.Phe177Ser) | |
2 | g.222295593A>T | CA351113181 | PAX3 | c.386T>A (p.Phe129Tyr) n.767T>A c.383T>A (p.Phe128Tyr) c.530T>A (p.Phe177Tyr) | gnomAD v4 |
2 | g.222295594A>C | CA351113182 | PAX3 | c.385T>G (p.Phe129Val) n.766T>G c.382T>G (p.Phe128Val) c.529T>G (p.Phe177Val) | |
2 | g.222295594A>G | CA351113183 | PAX3 | c.385T>C (p.Phe129Leu) n.766T>C c.382T>C (p.Phe128Leu) c.529T>C (p.Phe177Leu) | |
2 | g.222295594A>T | CA351113184 | PAX3 | c.385T>A (p.Phe129Ile) n.766T>A c.382T>A (p.Phe128Ile) c.529T>A (p.Phe177Ile) | |
2 | g.222295595C>A | CA351113186 | PAX3 | c.384G>T (p.Met128Ile) n.765G>T c.381G>T (p.Met127Ile) c.528G>T (p.Met176Ile) | |
2 | g.222295595C= | CA1330545794 | PAX3 | c.384G= (p.Met128=) n.765G= c.381G= (p.Met127=) c.528G= (p.Met176=) | |
2 | g.222295595C>G | CA351113185 | PAX3 | c.384G>C (p.Met128Ile) n.765G>C c.381G>C (p.Met127Ile) c.528G>C (p.Met176Ile) | |
2 | g.222295595C>T | CA2135753 | PAX3 | c.384G>A (p.Met128Ile) n.765G>A c.381G>A (p.Met127Ile) c.528G>A (p.Met176Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295596A>C | CA351113187 | PAX3 | c.383T>G (p.Met128Arg) n.764T>G c.380T>G (p.Met127Arg) c.527T>G (p.Met176Arg) | |
2 | g.222295596A>G | CA351113188 | PAX3 | c.383T>C (p.Met128Thr) n.764T>C c.380T>C (p.Met127Thr) c.527T>C (p.Met176Thr) | gnomAD v4 |
2 | g.222295596A>T | CA351113189 | PAX3 | c.383T>A (p.Met128Lys) n.764T>A c.380T>A (p.Met127Lys) c.527T>A (p.Met176Lys) | |
2 | g.222295597T>A | CA351113190 | PAX3 | c.382A>T (p.Met128Leu) n.763A>T c.379A>T (p.Met127Leu) c.526A>T (p.Met176Leu) | |
2 | g.222295597T>C | CA2135754 | PAX3 | c.382A>G (p.Met128Val) n.763A>G c.379A>G (p.Met127Val) c.526A>G (p.Met176Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295597T>G | CA351113191 | PAX3 | c.382A>C (p.Met128Leu) n.763A>C c.379A>C (p.Met127Leu) c.526A>C (p.Met176Leu) | |
2 | g.222295597T= | CA1330545795 | PAX3 | c.382A= (p.Met128=) n.763A= c.379A= (p.Met127=) c.526A= (p.Met176=) | |
2 | g.222295598G>A | CA431575834 | PAX3 | c.381C>T (p.Gly127=) n.762C>T c.378C>T (p.Gly126=) c.525C>T (p.Gly175=) | |
2 | g.222295598G>C | CA431575836 | PAX3 | c.381C>G (p.Gly127=) n.762C>G c.378C>G (p.Gly126=) c.525C>G (p.Gly175=) | |
2 | g.222295598G>T | CA431575835 | PAX3 | c.381C>A (p.Gly127=) n.762C>A c.378C>A (p.Gly126=) c.525C>A (p.Gly175=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295599C>A | CA351113192 | PAX3 | c.380G>T (p.Gly127Val) n.761G>T c.377G>T (p.Gly126Val) c.524G>T (p.Gly175Val) | |
2 | g.222295599C= | CA1330545796 | PAX3 | c.380G= (p.Gly127=) n.761G= c.377G= (p.Gly126=) c.524G= (p.Gly175=) | |
2 | g.222295599C>G | CA351113194 | PAX3 | c.380G>C (p.Gly127Ala) n.761G>C c.377G>C (p.Gly126Ala) c.524G>C (p.Gly175Ala) | |
2 | g.222295599C>T | CA351113193 | PAX3 | c.380G>A (p.Gly127Asp) n.761G>A c.377G>A (p.Gly126Asp) c.524G>A (p.Gly175Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295600C>A | CA351113195 | PAX3 | c.379G>T (p.Gly127Cys) n.760G>T c.376G>T (p.Gly126Cys) c.523G>T (p.Gly175Cys) | |
2 | g.222295600C>G | CA351113196 | PAX3 | c.379G>C (p.Gly127Arg) n.760G>C c.376G>C (p.Gly126Arg) c.523G>C (p.Gly175Arg) | ClinVar gnomAD v4 |
2 | g.222295600C>T | CA351113197 | PAX3 | c.379G>A (p.Gly127Ser) n.760G>A c.376G>A (p.Gly126Ser) c.523G>A (p.Gly175Ser) | |
2 | g.222295601C>A | CA431575837 | PAX3 | c.378G>T (p.Pro126=) n.759G>T c.375G>T (p.Pro125=) c.522G>T (p.Pro174=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295601C= | CA1330545797 | PAX3 | c.378G= (p.Pro126=) n.759G= c.375G= (p.Pro125=) c.522G= (p.Pro174=) | |
2 | g.222295601C>G | CA431575838 | PAX3 | c.378G>C (p.Pro126=) n.759G>C c.375G>C (p.Pro125=) c.522G>C (p.Pro174=) | |
2 | g.222295601C>T | CA66340498 | PAX3 | c.378G>A (p.Pro126=) n.759G>A c.375G>A (p.Pro125=) c.522G>A (p.Pro174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295602G>A | CA2135755 | PAX3 | c.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 |
2 | g.222295602G>C | CA351113198 | PAX3 | c.377C>G (p.Pro126Arg) n.758C>G c.374C>G (p.Pro125Arg) c.521C>G (p.Pro174Arg) | gnomAD v4 |
2 | g.222295602G= | CA1330545798 | PAX3 | c.377C= (p.Pro126=) n.758C= c.374C= (p.Pro125=) c.521C= (p.Pro174=) | |
2 | g.222295602G>T | CA351113199 | PAX3 | c.377C>A (p.Pro126Gln) n.758C>A c.374C>A (p.Pro125Gln) c.521C>A (p.Pro174Gln) | |
2 | g.222295603G>A | CA351113200 | PAX3 | c.376C>T (p.Pro126Ser) n.757C>T c.373C>T (p.Pro125Ser) c.520C>T (p.Pro174Ser) | |
2 | g.222295603G>C | CA351113201 | PAX3 | c.376C>G (p.Pro126Ala) n.757C>G c.373C>G (p.Pro125Ala) c.520C>G (p.Pro174Ala) | |
2 | g.222295603G>T | CA351113202 | PAX3 | c.376C>A (p.Pro126Thr) n.757C>A c.373C>A (p.Pro125Thr) c.520C>A (p.Pro174Thr) | |
2 | g.222295604G>A | CA431575839 | PAX3 | c.375C>T (p.Asn125=) n.756C>T c.372C>T (p.Asn124=) c.519C>T (p.Asn173=) | gnomAD v4 |
2 | g.222295604G>C | CA351113203 | PAX3 | c.375C>G (p.Asn125Lys) n.756C>G c.372C>G (p.Asn124Lys) c.519C>G (p.Asn173Lys) | gnomAD v4 COSMIC |
2 | g.222295604G= | CA1330545799 | PAX3 | c.375C= (p.Asn125=) n.756C= c.372C= (p.Asn124=) c.519C= (p.Asn173=) | |
2 | g.222295604G>T | CA351113204 | PAX3 | c.375C>A (p.Asn125Lys) n.756C>A c.372C>A (p.Asn124Lys) c.519C>A (p.Asn173Lys) | dbSNP |
2 | g.222295605T>A | CA351113207 | PAX3 | c.374A>T (p.Asn125Ile) n.755A>T c.371A>T (p.Asn124Ile) c.518A>T (p.Asn173Ile) | |
2 | g.222295605T>C | CA351113205 | PAX3 | c.374A>G (p.Asn125Ser) n.755A>G c.371A>G (p.Asn124Ser) c.518A>G (p.Asn173Ser) | |
2 | g.222295605T>G | CA351113206 | PAX3 | c.374A>C (p.Asn125Thr) n.755A>C c.371A>C (p.Asn124Thr) c.518A>C (p.Asn173Thr) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295606T>A | CA351113208 | PAX3 | c.373A>T (p.Asn125Tyr) n.754A>T c.370A>T (p.Asn124Tyr) c.517A>T (p.Asn173Tyr) | |
2 | g.222295606T>C | CA351113209 | PAX3 | c.373A>G (p.Asn125Asp) n.754A>G c.370A>G (p.Asn124Asp) c.517A>G (p.Asn173Asp) | gnomAD v4 |
2 | g.222295606T>G | CA351113210 | PAX3 | c.373A>C (p.Asn125His) n.754A>C c.370A>C (p.Asn124His) c.517A>C (p.Asn173His) | |
2 | g.222295611_222295612del | CA2580616712 | PAX3 | c.372_373del (p.Asn125ProfsTer19) n.753_754del c.369_370del (p.Asn124ProfsTer19) c.516_517del (p.Asn173ProfsTer19) | ClinVar dbSNP |
2 | g.222295607C>A | CA351113211 | PAX3 | c.372G>T (p.Glu124Asp) n.753G>T c.369G>T (p.Glu123Asp) c.516G>T (p.Glu172Asp) | |
2 | g.222295607C>G | CA351113212 | PAX3 | c.372G>C (p.Glu124Asp) n.753G>C c.369G>C (p.Glu123Asp) c.516G>C (p.Glu172Asp) | |
2 | g.222295607C>T | CA431575840 | PAX3 | c.372G>A (p.Glu124=) n.753G>A c.369G>A (p.Glu123=) c.516G>A (p.Glu172=) | |
2 | g.222295608T>A | CA351113213 | PAX3 | c.371A>T (p.Glu124Val) n.752A>T c.368A>T (p.Glu123Val) c.515A>T (p.Glu172Val) | |
2 | g.222295608T>C | CA351113214 | PAX3 | c.371A>G (p.Glu124Gly) n.752A>G c.368A>G (p.Glu123Gly) c.515A>G (p.Glu172Gly) | |
2 | g.222295608T>G | CA351113215 | PAX3 | c.371A>C (p.Glu124Ala) n.752A>C c.368A>C (p.Glu123Ala) c.515A>C (p.Glu172Ala) | |
2 | g.222295609C>A | CA351113216 | PAX3 | c.370G>T (p.Glu124Ter) n.751G>T c.367G>T (p.Glu123Ter) c.514G>T (p.Glu172Ter) | |
2 | g.222295609C>G | CA351113217 | PAX3 | c.370G>C (p.Glu124Gln) n.751G>C c.367G>C (p.Glu123Gln) c.514G>C (p.Glu172Gln) | gnomAD v4 |
2 | g.222295609C>T | CA351113218 | PAX3 | c.370G>A (p.Glu124Lys) n.751G>A c.367G>A (p.Glu123Lys) c.514G>A (p.Glu172Lys) | gnomAD v4 |
2 | g.222295609_222295614delinsCTCTTT | CA1330545800 | PAX3 | c.365_370delinsAAAGAG (p.Lys122=) n.746_751delinsAAAGAG c.362_367delinsAAAGAG (p.Lys121=) c.509_514delinsAAAGAG (p.Lys170=) | |
2 | g.222295610T>A | CA351113219 | PAX3 | c.369A>T (p.Arg123Ser) n.750A>T c.366A>T (p.Arg122Ser) c.513A>T (p.Arg171Ser) | |
2 | g.222295610T>C | CA431575841 | PAX3 | c.369A>G (p.Arg123=) n.750A>G c.366A>G (p.Arg122=) c.513A>G (p.Arg171=) | |
2 | g.222295610T>G | CA351113220 | PAX3 | c.369A>C (p.Arg123Ser) n.750A>C c.366A>C (p.Arg122Ser) c.513A>C (p.Arg171Ser) | gnomAD v4 |
2 | g.222295611_222295615del | CA913190011 | PAX3 | c.365_369del (p.Lys122ArgfsTer21) n.746_750del c.362_366del (p.Lys121ArgfsTer21) c.509_513del (p.Lys170ArgfsTer21) | ClinVar dbSNP |
2 | g.222295611C>A | CA351113223 | PAX3 | c.368G>T (p.Arg123Ile) n.749G>T c.365G>T (p.Arg122Ile) c.512G>T (p.Arg171Ile) | |
2 | g.222295611C>G | CA351113222 | PAX3 | c.368G>C (p.Arg123Thr) n.749G>C c.365G>C (p.Arg122Thr) c.512G>C (p.Arg171Thr) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295611C>T | CA351113221 | PAX3 | c.368G>A (p.Arg123Lys) n.749G>A c.365G>A (p.Arg122Lys) c.512G>A (p.Arg171Lys) | gnomAD v4 |
2 | g.222295612T>A | CA351113224 | PAX3 | c.367A>T (p.Arg123Ter) n.748A>T c.364A>T (p.Arg122Ter) c.511A>T (p.Arg171Ter) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295612T>C | CA351113225 | PAX3 | c.367A>G (p.Arg123Gly) n.748A>G c.364A>G (p.Arg122Gly) c.511A>G (p.Arg171Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295612T>G | CA431575842 | PAX3 | c.367A>C (p.Arg123=) n.748A>C c.364A>C (p.Arg122=) c.511A>C (p.Arg171=) | |
2 | g.222295612T= | CA1330545801 | PAX3 | c.367A= (p.Arg123=) n.748A= c.364A= (p.Arg122=) c.511A= (p.Arg171=) | |
2 | g.222295614_222295615del | CA2499215689 | PAX3 | c.366_367del (p.Asn125ProfsTer19) n.747_748del c.363_364del (p.Asn124ProfsTer19) c.510_511del (p.Asn173ProfsTer19) | ClinVar dbSNP |
2 | g.222295612_222295613insGACG | CA1330545802 | PAX3 | c.366_367insCGTC (p.Glu124GlnfsTer22) n.747_748insCGTC c.363_364insCGTC (p.Glu123GlnfsTer22) c.510_511insCGTC (p.Glu172GlnfsTer22) | dbSNP |
2 | g.222295612_222295613insAATAAACGCTCTGCCTCCGCCTCACG | CA2135756 | PAX3 | c.366_367insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn125AlafsTer36) n.747_748insCGTGAGGCGGAGGCAGAGCGTTTATT c.363_364insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn124AlafsTer36) c.510_511insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn173AlafsTer36) | dbSNP ExAC |
2 | g.222295613T>A | CA351113226 | PAX3 | c.366A>T (p.Lys122Asn) n.747A>T c.363A>T (p.Lys121Asn) c.510A>T (p.Lys170Asn) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295613T>C | CA431575843 | PAX3 | c.366A>G (p.Lys122=) n.747A>G c.363A>G (p.Lys121=) c.510A>G (p.Lys170=) | |
2 | g.222295613T>G | CA351113227 | PAX3 | c.366A>C (p.Lys122Asn) n.747A>C c.363A>C (p.Lys121Asn) c.510A>C (p.Lys170Asn) | |
2 | g.222295614T>A | CA351113228 | PAX3 | c.365A>T (p.Lys122Ile) n.746A>T c.362A>T (p.Lys121Ile) c.509A>T (p.Lys170Ile) | |
2 | g.222295614T>C | CA351113229 | PAX3 | c.365A>G (p.Lys122Arg) n.746A>G c.362A>G (p.Lys121Arg) c.509A>G (p.Lys170Arg) | |
2 | g.222295614T>G | CA351113230 | PAX3 | c.365A>C (p.Lys122Thr) n.746A>C c.362A>C (p.Lys121Thr) c.509A>C (p.Lys170Thr) | |
2 | g.222295615T>A | CA351113231 | PAX3 | c.364A>T (p.Lys122Ter) n.745A>T c.361A>T (p.Lys121Ter) c.508A>T (p.Lys170Ter) | |
2 | g.222295615T>C | CA351113232 | PAX3 | c.364A>G (p.Lys122Glu) n.745A>G c.361A>G (p.Lys121Glu) c.508A>G (p.Lys170Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.222295615T>G | CA351113233 | PAX3 | c.364A>C (p.Lys122Gln) n.745A>C c.361A>C (p.Lys121Gln) c.508A>C (p.Lys170Gln) | |
2 | g.222295615T= | CA1330545803 | PAX3 | c.364A= (p.Lys122=) n.745A= c.361A= (p.Lys121=) c.508A= (p.Lys170=) | |
2 | g.222295616G>A | CA431575844 | PAX3 | c.363C>T (p.Tyr121=) n.744C>T c.360C>T (p.Tyr120=) c.507C>T (p.Tyr169=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222295616G>C | CA351113234 | PAX3 | c.363C>G (p.Tyr121Ter) n.744C>G c.360C>G (p.Tyr120Ter) c.507C>G (p.Tyr169Ter) | |
2 | g.222295616G= | CA1330545804 | PAX3 | c.363C= (p.Tyr121=) n.744C= c.360C= (p.Tyr120=) c.507C= (p.Tyr169=) | |
2 | g.222295616G>T | CA351113235 | PAX3 | c.363C>A (p.Tyr121Ter) n.744C>A c.360C>A (p.Tyr120Ter) c.507C>A (p.Tyr169Ter) | |
2 | g.222295617T>A | CA2135757 | PAX3 | c.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 |
2 | g.222295617T>C | CA351113237 | PAX3 | c.362A>G (p.Tyr121Cys) n.743A>G c.359A>G (p.Tyr120Cys) c.506A>G (p.Tyr169Cys) | |
2 | g.222295617T>G | CA351113236 | PAX3 | c.362A>C (p.Tyr121Ser) n.743A>C c.359A>C (p.Tyr120Ser) c.506A>C (p.Tyr169Ser) | |
2 | g.222295617T= | CA1330545805 | PAX3 | c.362A= (p.Tyr121=) n.743A= c.359A= (p.Tyr120=) c.506A= (p.Tyr169=) | |
2 | g.222295618A>C | CA351113238 | PAX3 | c.361T>G (p.Tyr121Asp) n.742T>G c.358T>G (p.Tyr120Asp) c.505T>G (p.Tyr169Asp) | |
2 | g.222295618A>G | CA351113240 | PAX3 | c.361T>C (p.Tyr121His) n.742T>C c.358T>C (p.Tyr120His) c.505T>C (p.Tyr169His) | gnomAD v4 |
2 | g.222295618A>T | CA351113239 | PAX3 | c.361T>A (p.Tyr121Asn) n.742T>A c.358T>A (p.Tyr120Asn) c.505T>A (p.Tyr169Asn) | |
2 | g.222295619T>A | CA351113241 | PAX3 | c.360A>T (p.Glu120Asp) n.741A>T c.357A>T (p.Glu119Asp) c.504A>T (p.Glu168Asp) | dbSNP |
2 | g.222295619T>C | CA431575845 | PAX3 | c.360A>G (p.Glu120=) n.741A>G c.357A>G (p.Glu119=) c.504A>G (p.Glu168=) | gnomAD v4 |
2 | g.222295619T>G | CA351113242 | PAX3 | c.360A>C (p.Glu120Asp) n.741A>C c.357A>C (p.Glu119Asp) c.504A>C (p.Glu168Asp) | |
2 | g.222295619T= | CA1330545806 | PAX3 | c.360A= (p.Glu120=) n.741A= c.357A= (p.Glu119=) c.504A= (p.Glu168=) | |
2 | g.222295620T>A | CA351113243 | PAX3 | c.359A>T (p.Glu120Val) n.740A>T c.356A>T (p.Glu119Val) c.503A>T (p.Glu168Val) | |
2 | g.222295620T>C | CA351113244 | PAX3 | c.359A>G (p.Glu120Gly) n.740A>G c.356A>G (p.Glu119Gly) c.503A>G (p.Glu168Gly) | |
2 | g.222295620T>G | CA351113245 | PAX3 | c.359A>C (p.Glu120Ala) n.740A>C c.356A>C (p.Glu119Ala) c.503A>C (p.Glu168Ala) | |
2 | g.222295621C>A | CA351113246 | PAX3 | c.358G>T (p.Glu120Ter) n.739G>T c.355G>T (p.Glu119Ter) c.502G>T (p.Glu168Ter) | |
2 | g.222295621C>G | CA351113247 | PAX3 | c.358G>C (p.Glu120Gln) n.739G>C c.355G>C (p.Glu119Gln) c.502G>C (p.Glu168Gln) | |
2 | g.222295621C>T | CA351113248 | PAX3 | c.358G>A (p.Glu120Lys) n.739G>A c.355G>A (p.Glu119Lys) c.502G>A (p.Glu168Lys) | gnomAD v4 |
2 | g.222295622del | CA2586971540 | PAX3 | c.358del (p.Glu120AsnfsTer?) n.739del c.355del (p.Glu119AsnfsTer?) c.502del (p.Glu168AsnfsTer?) | |
2 | g.222295622C>A | CA351113249 | PAX3 | c.357G>T (p.Glu119Asp) n.738G>T c.354G>T (p.Glu118Asp) c.501G>T (p.Glu167Asp) | |
2 | g.222295622C= | CA1330545807 | PAX3 | c.357G= (p.Glu119=) n.738G= c.354G= (p.Glu118=) c.501G= (p.Glu167=) | |
2 | g.222295622C>G | CA351113250 | PAX3 | c.357G>C (p.Glu119Asp) n.738G>C c.354G>C (p.Glu118Asp) c.501G>C (p.Glu167Asp) | |
2 | g.222295622C>T | CA2135758 | PAX3 | c.357G>A (p.Glu119=) n.738G>A c.354G>A (p.Glu118=) c.501G>A (p.Glu167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222295623T>A | CA351113253 | PAX3 | c.356A>T (p.Glu119Val) n.737A>T c.353A>T (p.Glu118Val) c.500A>T (p.Glu167Val) | |
2 | g.222295623T>C | CA351113252 | PAX3 | c.356A>G (p.Glu119Gly) n.737A>G c.353A>G (p.Glu118Gly) c.500A>G (p.Glu167Gly) | |
2 | g.222295623T>G | CA351113251 | PAX3 | c.356A>C (p.Glu119Ala) n.737A>C c.353A>C (p.Glu118Ala) c.500A>C (p.Glu167Ala) | |
2 | g.222295624C>A | CA351113254 | PAX3 | c.355G>T (p.Glu119Ter) n.736G>T c.352G>T (p.Glu118Ter) c.499G>T (p.Glu167Ter) | |
2 | g.222295624C>G | CA351113255 | PAX3 | c.355G>C (p.Glu119Gln) n.736G>C c.352G>C (p.Glu118Gln) c.499G>C (p.Glu167Gln) | |
2 | g.222295624C>T | CA351113256 | PAX3 | c.355G>A (p.Glu119Lys) n.736G>A c.352G>A (p.Glu118Lys) c.499G>A (p.Glu167Lys) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295625A= | CA1330545808 | PAX3 | c.354T= (p.Ile118=) n.735T= c.351T= (p.Ile117=) c.498T= (p.Ile166=) | |
2 | g.222295625A>C | CA351113257 | PAX3 | c.354T>G (p.Ile118Met) n.735T>G c.351T>G (p.Ile117Met) c.498T>G (p.Ile166Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222295625A>G | CA431575846 | PAX3 | c.354T>C (p.Ile118=) n.735T>C c.351T>C (p.Ile117=) c.498T>C (p.Ile166=) | |
2 | g.222295625A>T | CA431575847 | PAX3 | c.354T>A (p.Ile118=) n.735T>A c.351T>A (p.Ile117=) c.498T>A (p.Ile166=) | |
2 | g.222295626A>C | CA351113258 | PAX3 | c.353T>G (p.Ile118Ser) n.734T>G c.350T>G (p.Ile117Ser) c.497T>G (p.Ile166Ser) | |
2 | g.222295626A>G | CA351113259 | PAX3 | c.353T>C (p.Ile118Thr) n.734T>C c.350T>C (p.Ile117Thr) c.497T>C (p.Ile166Thr) | |
2 | g.222295626A>T | CA351113260 | PAX3 | c.353T>A (p.Ile118Asn) n.734T>A c.350T>A (p.Ile117Asn) c.497T>A (p.Ile166Asn) | |
2 | g.222295627T>A | CA351113261 | PAX3 | c.352A>T (p.Ile118Phe) n.733A>T c.349A>T (p.Ile117Phe) c.496A>T (p.Ile166Phe) | |
2 | g.222295627T>C | CA351113262 | PAX3 | c.352A>G (p.Ile118Val) n.733A>G c.349A>G (p.Ile117Val) c.496A>G (p.Ile166Val) | |
2 | g.222295627T>G | CA351113263 | PAX3 | c.352A>C (p.Ile118Leu) n.733A>C c.349A>C (p.Ile117Leu) c.496A>C (p.Ile166Leu) | |
2 | g.222295628T>A | CA351113264 | PAX3 | c.351A>T (p.Lys117Asn) n.732A>T c.348A>T (p.Lys116Asn) c.495A>T (p.Lys165Asn) | |
2 | g.222295628T>C | CA431575848 | PAX3 | c.351A>G (p.Lys117=) n.732A>G c.348A>G (p.Lys116=) c.495A>G (p.Lys165=) | |
2 | g.222295628T>G | CA351113265 | PAX3 | c.351A>C (p.Lys117Asn) n.732A>C c.348A>C (p.Lys116Asn) c.495A>C (p.Lys165Asn) | |
2 | g.222295629T>A | CA351113268 | PAX3 | c.350A>T (p.Lys117Ile) n.731A>T c.347A>T (p.Lys116Ile) c.494A>T (p.Lys165Ile) | |
2 | g.222295629T>C | CA351113267 | PAX3 | c.350A>G (p.Lys117Arg) n.731A>G c.347A>G (p.Lys116Arg) c.494A>G (p.Lys165Arg) | |
2 | g.222295629T>G | CA351113266 | PAX3 | c.350A>C (p.Lys117Thr) n.731A>C c.347A>C (p.Lys116Thr) c.494A>C (p.Lys165Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295629T= | CA1330545809 | PAX3 | c.350A= (p.Lys117=) n.731A= c.347A= (p.Lys116=) c.494A= (p.Lys165=) | |
2 | g.222295630T>A | CA351113269 | PAX3 | c.349A>T (p.Lys117Ter) n.730A>T c.346A>T (p.Lys116Ter) c.493A>T (p.Lys165Ter) | |
2 | g.222295630T>C | CA351113270 | PAX3 | c.349A>G (p.Lys117Glu) n.730A>G c.346A>G (p.Lys116Glu) c.493A>G (p.Lys165Glu) | gnomAD v4 |
2 | g.222295630T>G | CA351113271 | PAX3 | c.349A>C (p.Lys117Gln) n.730A>C c.346A>C (p.Lys116Gln) c.493A>C (p.Lys165Gln) | |
2 | g.222295631C>A | CA351113272 | PAX3 | c.348G>T (p.Lys116Asn) n.729G>T c.345G>T (p.Lys115Asn) c.492G>T (p.Lys164Asn) | |
2 | g.222295631C>G | CA351113273 | PAX3 | c.348G>C (p.Lys116Asn) n.729G>C c.345G>C (p.Lys115Asn) c.492G>C (p.Lys164Asn) | |
2 | g.222295631C>T | CA431575849 | PAX3 | c.348G>A (p.Lys116=) n.729G>A c.345G>A (p.Lys115=) c.492G>A (p.Lys164=) | |
2 | g.222295632T>A | CA351113274 | PAX3 | c.347A>T (p.Lys116Met) n.728A>T c.344A>T (p.Lys115Met) c.491A>T (p.Lys164Met) | |
2 | g.222295632T>C | CA351113275 | PAX3 | c.347A>G (p.Lys116Arg) n.728A>G c.344A>G (p.Lys115Arg) c.491A>G (p.Lys164Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295632T>G | CA351113276 | PAX3 | c.347A>C (p.Lys116Thr) n.728A>C c.344A>C (p.Lys115Thr) c.491A>C (p.Lys164Thr) | |
2 | g.222295632T= | CA1330545810 | PAX3 | c.347A= (p.Lys116=) n.728A= c.344A= (p.Lys115=) c.491A= (p.Lys164=) | |
2 | g.222295633T>A | CA351113277 | PAX3 | c.346A>T (p.Lys116Ter) n.727A>T c.343A>T (p.Lys115Ter) c.490A>T (p.Lys164Ter) | |
2 | g.222295633T>C | CA351113278 | PAX3 | c.346A>G (p.Lys116Glu) n.727A>G c.343A>G (p.Lys115Glu) c.490A>G (p.Lys164Glu) | |
2 | g.222295633T>G | CA351113279 | PAX3 | c.346A>C (p.Lys116Gln) n.727A>C c.343A>C (p.Lys115Gln) c.490A>C (p.Lys164Gln) | |
2 | g.222295634C>A | CA351113280 | PAX3 | c.345G>T (p.Glu115Asp) n.726G>T c.342G>T (p.Glu114Asp) c.489G>T (p.Glu163Asp) | |
2 | g.222295634C>G | CA351113281 | PAX3 | c.345G>C (p.Glu115Asp) n.726G>C c.342G>C (p.Glu114Asp) c.489G>C (p.Glu163Asp) | |
2 | g.222295634C>T | CA431575850 | PAX3 | c.345G>A (p.Glu115=) n.726G>A c.342G>A (p.Glu114=) c.489G>A (p.Glu163=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295635_222295637del | CA2663323848 | PAX3 | c.343_345del (p.Glu115del) n.724_726del c.340_342del (p.Glu114del) c.487_489del (p.Glu163del) | gnomAD v4 |
2 | g.222295635T>A | CA351113284 | PAX3 | c.344A>T (p.Glu115Val) n.725A>T c.341A>T (p.Glu114Val) c.488A>T (p.Glu163Val) | |
2 | g.222295635T>C | CA351113282 | PAX3 | c.344A>G (p.Glu115Gly) n.725A>G c.341A>G (p.Glu114Gly) c.488A>G (p.Glu163Gly) | |
2 | g.222295635T>G | CA351113283 | PAX3 | c.344A>C (p.Glu115Ala) n.725A>C c.341A>C (p.Glu114Ala) c.488A>C (p.Glu163Ala) | |
2 | g.222295636C>A | CA351113285 | PAX3 | c.343G>T (p.Glu115Ter) n.724G>T c.340G>T (p.Glu114Ter) c.487G>T (p.Glu163Ter) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295636C>G | CA351113286 | PAX3 | c.343G>C (p.Glu115Gln) n.724G>C c.340G>C (p.Glu114Gln) c.487G>C (p.Glu163Gln) | |
2 | g.222295636C>T | CA351113287 | PAX3 | c.343G>A (p.Glu115Lys) n.724G>A c.340G>A (p.Glu114Lys) c.487G>A (p.Glu163Lys) | |
2 | g.222295637C>A | CA431575851 | PAX3 | c.342G>T (p.Val114=) n.723G>T c.339G>T (p.Val113=) c.486G>T (p.Val162=) | |
2 | g.222295637C= | CA1330545811 | PAX3 | c.342G= (p.Val114=) n.723G= c.339G= (p.Val113=) c.486G= (p.Val162=) | |
2 | g.222295637C>G | CA431575852 | PAX3 | c.342G>C (p.Val114=) n.723G>C c.339G>C (p.Val113=) c.486G>C (p.Val162=) | |
2 | g.222295637C>T | CA66340499 | PAX3 | c.342G>A (p.Val114=) n.723G>A c.339G>A (p.Val113=) c.486G>A (p.Val162=) | ClinVar dbSNP |
2 | g.222295638A>C | CA351113288 | PAX3 | c.341T>G (p.Val114Gly) n.722T>G c.338T>G (p.Val113Gly) c.485T>G (p.Val162Gly) | |
2 | g.222295638A>G | CA351113289 | PAX3 | c.341T>C (p.Val114Ala) n.722T>C c.338T>C (p.Val113Ala) c.485T>C (p.Val162Ala) | |
2 | g.222295638A>T | CA351113290 | PAX3 | c.341T>A (p.Val114Glu) n.722T>A c.338T>A (p.Val113Glu) c.485T>A (p.Val162Glu) | |
2 | g.222295639C>A | CA2135759 | PAX3 | c.340G>T (p.Val114Leu) n.721G>T c.337G>T (p.Val113Leu) c.484G>T (p.Val162Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222295639C= | CA1330545812 | PAX3 | c.340G= (p.Val114=) n.721G= c.337G= (p.Val113=) c.484G= (p.Val162=) | |
2 | g.222295639C>G | CA351113291 | PAX3 | c.340G>C (p.Val114Leu) n.721G>C c.337G>C (p.Val113Leu) c.484G>C (p.Val162Leu) | |
2 | g.222295639C>T | CA2135760 | PAX3 | c.340G>A (p.Val114Met) n.721G>A c.337G>A (p.Val113Met) c.484G>A (p.Val162Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222295640G>A | CA66340500 | PAX3 | c.339C>T (p.Asp113=) n.720C>T c.336C>T (p.Asp112=) c.483C>T (p.Asp161=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295640G>C | CA351113292 | PAX3 | c.339C>G (p.Asp113Glu) n.720C>G c.336C>G (p.Asp112Glu) c.483C>G (p.Asp161Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295640G= | CA1330545813 | PAX3 | c.339C= (p.Asp113=) n.720C= c.336C= (p.Asp112=) c.483C= (p.Asp161=) | |
2 | g.222295640G>T | CA351113293 | PAX3 | c.339C>A (p.Asp113Glu) n.720C>A c.336C>A (p.Asp112Glu) c.483C>A (p.Asp161Glu) | gnomAD v4 |
2 | g.222295641T>A | CA351113295 | PAX3 | c.338A>T (p.Asp113Val) n.719A>T c.335A>T (p.Asp112Val) c.482A>T (p.Asp161Val) | gnomAD v4 |
2 | g.222295641T>C | CA351113296 | PAX3 | c.338A>G (p.Asp113Gly) n.719A>G c.335A>G (p.Asp112Gly) c.482A>G (p.Asp161Gly) | |
2 | g.222295641T>G | CA351113294 | PAX3 | c.338A>C (p.Asp113Ala) n.719A>C c.335A>C (p.Asp112Ala) c.482A>C (p.Asp161Ala) | |
2 | g.222295642C>A | CA351113298 | PAX3 | c.337G>T (p.Asp113Tyr) n.718G>T c.334G>T (p.Asp112Tyr) c.481G>T (p.Asp161Tyr) | |
2 | g.222295642C>G | CA351113297 | PAX3 | c.337G>C (p.Asp113His) n.718G>C c.334G>C (p.Asp112His) c.481G>C (p.Asp161His) | |
2 | g.222295642C>T | CA351113299 | PAX3 | c.337G>A (p.Asp113Asn) n.718G>A c.334G>A (p.Asp112Asn) c.481G>A (p.Asp161Asn) | |
2 | g.222295643A>C | CA431575854 | PAX3 | c.336T>G (p.Pro112=) n.717T>G c.333T>G (p.Pro111=) c.480T>G (p.Pro160=) | |
2 | g.222295643A>G | CA431575855 | PAX3 | c.336T>C (p.Pro112=) n.717T>C c.333T>C (p.Pro111=) c.480T>C (p.Pro160=) | |
2 | g.222295643A>T | CA431575853 | PAX3 | c.336T>A (p.Pro112=) n.717T>A c.333T>A (p.Pro111=) c.480T>A (p.Pro160=) | |
2 | g.222295644G>A | CA351113300 | PAX3 | c.335C>T (p.Pro112Leu) n.716C>T c.332C>T (p.Pro111Leu) c.479C>T (p.Pro160Leu) | |
2 | g.222295644G>C | CA351113302 | PAX3 | c.335C>G (p.Pro112Arg) n.716C>G c.332C>G (p.Pro111Arg) c.479C>G (p.Pro160Arg) | |
2 | g.222295644G>T | CA351113301 | PAX3 | c.335C>A (p.Pro112His) n.716C>A c.332C>A (p.Pro111His) c.479C>A (p.Pro160His) | |
2 | g.222295645G>A | CA351113303 | PAX3 | c.334C>T (p.Pro112Ser) n.715C>T c.331C>T (p.Pro111Ser) c.478C>T (p.Pro160Ser) | dbSNP |
2 | g.222295645G>C | CA351113305 | PAX3 | c.334C>G (p.Pro112Ala) n.715C>G c.331C>G (p.Pro111Ala) c.478C>G (p.Pro160Ala) | |
2 | g.222295645G= | CA1330545814 | PAX3 | c.334C= (p.Pro112=) n.715C= c.331C= (p.Pro111=) c.478C= (p.Pro160=) | |
2 | g.222295645G>T | CA351113304 | PAX3 | c.334C>A (p.Pro112Thr) n.715C>A c.331C>A (p.Pro111Thr) c.478C>A (p.Pro160Thr) | gnomAD v4 |
2 | g.222295646C>A | CA431575858 | PAX3 | c.333G>T (p.Thr111=) n.714G>T c.330G>T (p.Thr110=) c.477G>T (p.Thr159=) | |
2 | g.222295646C= | CA1330545815 | PAX3 | c.333G= (p.Thr111=) n.714G= c.330G= (p.Thr110=) c.477G= (p.Thr159=) | |
2 | g.222295646C>G | CA431575856 | PAX3 | c.333G>C (p.Thr111=) n.714G>C c.330G>C (p.Thr110=) c.477G>C (p.Thr159=) | dbSNP gnomAD v4 |
2 | g.222295646C>T | CA431575857 | PAX3 | c.333G>A (p.Thr111=) n.714G>A c.330G>A (p.Thr110=) c.477G>A (p.Thr159=) | gnomAD v4 |
2 | g.222295647G>A | CA351113306 | PAX3 | c.332C>T (p.Thr111Met) n.713C>T c.329C>T (p.Thr110Met) c.476C>T (p.Thr159Met) | dbSNP |
2 | g.222295647G>C | CA351113307 | PAX3 | c.332C>G (p.Thr111Arg) n.713C>G c.329C>G (p.Thr110Arg) c.476C>G (p.Thr159Arg) | gnomAD v4 |
2 | g.222295647G= | CA1330545816 | PAX3 | c.332C= (p.Thr111=) n.713C= c.329C= (p.Thr110=) c.476C= (p.Thr159=) | |
2 | g.222295647G>T | CA2135761 | PAX3 | c.332C>A (p.Thr111Lys) n.713C>A c.329C>A (p.Thr110Lys) c.476C>A (p.Thr159Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222295648T>A | CA351113308 | PAX3 | c.331A>T (p.Thr111Ser) n.712A>T c.328A>T (p.Thr110Ser) c.475A>T (p.Thr159Ser) | |
2 | g.222295648T>C | CA351113310 | PAX3 | c.331A>G (p.Thr111Ala) n.712A>G c.328A>G (p.Thr110Ala) c.475A>G (p.Thr159Ala) | |
2 | g.222295648T>G | CA351113309 | PAX3 | c.331A>C (p.Thr111Pro) n.712A>C c.328A>C (p.Thr110Pro) c.475A>C (p.Thr159Pro) | |
2 | g.222295649T>A | CA431575860 | PAX3 | c.330A>T (p.Thr110=) n.711A>T c.327A>T (p.Thr109=) c.474A>T (p.Thr158=) | |
2 | g.222295649T>C | CA431575861 | PAX3 | c.330A>G (p.Thr110=) n.711A>G c.327A>G (p.Thr109=) c.474A>G (p.Thr158=) | |
2 | g.222295649T>G | CA431575859 | PAX3 | c.330A>C (p.Thr110=) n.711A>C c.327A>C (p.Thr109=) c.474A>C (p.Thr158=) | |
2 | g.222295650G>A | CA351113311 | PAX3 | c.329C>T (p.Thr110Ile) n.710C>T c.326C>T (p.Thr109Ile) c.473C>T (p.Thr158Ile) | |
2 | g.222295650G>C | CA351113312 | PAX3 | c.329C>G (p.Thr110Arg) n.710C>G c.326C>G (p.Thr109Arg) c.473C>G (p.Thr158Arg) | |
2 | g.222295650G>T | CA351113313 | PAX3 | c.329C>A (p.Thr110Lys) n.710C>A c.326C>A (p.Thr109Lys) c.473C>A (p.Thr158Lys) | |
2 | g.222295651T>A | CA351113314 | PAX3 | c.328A>T (p.Thr110Ser) n.709A>T c.325A>T (p.Thr109Ser) c.472A>T (p.Thr158Ser) | |
2 | g.222295651T>C | CA351113315 | PAX3 | c.328A>G (p.Thr110Ala) n.709A>G c.325A>G (p.Thr109Ala) c.472A>G (p.Thr158Ala) | |
2 | g.222295651T>G | CA351113316 | PAX3 | c.328A>C (p.Thr110Pro) n.709A>C c.325A>C (p.Thr109Pro) c.472A>C (p.Thr158Pro) | |
2 | g.222295652C>A | CA431575862 | PAX3 | c.327G>T (p.Val109=) n.708G>T c.324G>T (p.Val108=) c.471G>T (p.Val157=) | |
2 | g.222295652C>G | CA431575863 | PAX3 | c.327G>C (p.Val109=) n.708G>C c.324G>C (p.Val108=) c.471G>C (p.Val157=) | |
2 | g.222295652C>T | CA431575864 | PAX3 | c.327G>A (p.Val109=) n.708G>A c.324G>A (p.Val108=) c.471G>A (p.Val157=) | gnomAD v4 |
2 | g.222295653A>C | CA351113317 | PAX3 | c.326T>G (p.Val109Gly) n.707T>G c.323T>G (p.Val108Gly) c.470T>G (p.Val157Gly) | |
2 | g.222295653A>G | CA351113318 | PAX3 | c.326T>C (p.Val109Ala) n.707T>C c.323T>C (p.Val108Ala) c.470T>C (p.Val157Ala) | |
2 | g.222295653A>T | CA351113319 | PAX3 | c.326T>A (p.Val109Glu) n.707T>A c.323T>A (p.Val108Glu) c.470T>A (p.Val157Glu) | |
2 | g.222295654C>A | CA351113320 | PAX3 | c.325G>T (p.Val109Leu) n.706G>T c.322G>T (p.Val108Leu) c.469G>T (p.Val157Leu) | |
2 | g.222295654C>G | CA351113321 | PAX3 | c.325G>C (p.Val109Leu) n.706G>C c.322G>C (p.Val108Leu) c.469G>C (p.Val157Leu) | |
2 | g.222295654C>T | CA351113322 | PAX3 | c.325G>A (p.Val109Met) n.706G>A c.322G>A (p.Val108Met) c.469G>A (p.Val157Met) | |
2 | g.222295655C>A | CA351113323 | PAX3 | c.324G>T (p.Gln108His) n.705G>T c.322-1G>T (n.322-1G>T) c.468G>T (p.Gln156His) | |
2 | g.222295655C>G | CA351113325 | PAX3 | c.324G>C (p.Gln108His) n.705G>C c.322-1G>C (n.322-1G>C) c.468G>C (p.Gln156His) | |
2 | g.222295655C>T | CA351113324 | PAX3 | c.324G>A (p.Gln108=) n.705G>A c.322-1G>A (n.322-1G>A) c.468G>A (p.Gln156=) | |
2 | g.222295656T>A | CA351113326 | PAX3 | c.323A>T (p.Gln108Leu) n.704A>T c.322-2A>T (n.322-2A>T) c.467A>T (p.Gln156Leu) | |
2 | g.222295656T>C | CA351113327 | PAX3 | c.323A>G (p.Gln108Arg) n.704A>G c.322-2A>G (n.322-2A>G) c.467A>G (p.Gln156Arg) | |
2 | g.222295656T>G | CA2135762 | PAX3 | c.323A>C (p.Gln108Pro) n.704A>C c.322-2A>C (n.322-2A>C) c.467A>C (p.Gln156Pro) | dbSNP ExAC gnomAD v2 |
2 | g.222295656T= | CA1330545817 | PAX3 | c.323A= (p.Gln108=) n.704A= c.322-2A= (n.322-2A=) c.467A= (p.Gln156=) | |
2 | g.222295657G>A | CA351113328 | PAX3 | c.322C>T (p.Gln108Ter) n.703C>T c.322-3C>T (n.322-3C>T) c.466C>T (p.Gln156Ter) | |
2 | g.222295657G>C | CA351113329 | PAX3 | c.322C>G (p.Gln108Glu) n.703C>G c.322-3C>G (n.322-3C>G) c.466C>G (p.Gln156Glu) | |
2 | g.222295657G>T | CA351113330 | PAX3 | c.322C>A (p.Gln108Lys) n.703C>A c.322-3C>A (n.322-3C>A) c.466C>A (p.Gln156Lys) | |
2 | g.222295658C>A | CA351113331 | PAX3 | c.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) | |
2 | g.222295658C>G | CA351113332 | PAX3 | c.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) | |
2 | g.222295658C>T | CA351113333 | PAX3 | c.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) | |
2 | g.222295659T>A | CA351113335 | PAX3 | c.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) | |
2 | g.222295659T>C | CA351113336 | PAX3 | c.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 |
2 | g.222295659T>G | CA351113334 | PAX3 | c.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) | |
2 | g.222295661T>C | CA2663323849 | PAX3 | c.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 |
2 | g.222295663A>T | CA2663323850 | PAX3 | c.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 |
2 | g.222295664G>A | CA2663323851 | PAX3 | c.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 |
2 | g.222295666G>A | CA2577257579 | PAX3 | c.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) | |
2 | g.222295667A>G | CA2663323852 | PAX3 | c.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 |
2 | g.222295669C>A | CA2832653975 | PAX3 | c.322-12G>T (n.322-12G>T) n.703-12G>T c.322-15G>T (n.322-15G>T) c.466-12G>T (n.466-12G>T) | |
2 | g.222295669C= | CA1330545818 | PAX3 | c.322-12G= (n.322-12G=) n.703-12G= c.322-15G= (n.322-15G=) c.466-12G= (n.466-12G=) | |
2 | g.222295669C>T | CA765249751 | PAX3 | c.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 |
2 | g.222295675_222295682del | CA2740373082 | PAX3 | c.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) | |
2 | g.222295670A= | CA1330545819 | PAX3 | c.322-13T= (n.322-13T=) n.703-13T= c.322-16T= (n.322-16T=) c.466-13T= (n.466-13T=) | |
2 | g.222295670A>G | CA2135763 | PAX3 | c.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 |
2 | g.222295673C>A | CA2135764 | PAX3 | c.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 |
2 | g.222295673C= | CA1330545820 | PAX3 | c.322-16G= (n.322-16G=) n.703-16G= c.322-19G= (n.322-19G=) c.466-16G= (n.466-16G=) | |
2 | g.222295673C>G | CA2754394794 | PAX3 | c.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) | |
2 | g.222295673C>T | CA765249764 | PAX3 | c.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 |
2 | g.222295674G>A | CA2135765 | PAX3 | c.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 |
2 | g.222295674G= | CA1330545821 | PAX3 | c.322-17C= (n.322-17C=) n.703-17C= c.322-20C= (n.322-20C=) c.466-17C= (n.466-17C=) | |
2 | g.222295674G>T | CA2754394795 | PAX3 | c.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) | |
2 | g.222295676del | CA2663323853 | PAX3 | c.322-17del (n.322-17del) n.703-17del c.322-20del (n.322-20del) c.466-17del (n.466-17del) | gnomAD v4 |
2 | g.222295675G>A | CA2135766 | PAX3 | c.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 |
2 | g.222295675G= | CA1330545822 | PAX3 | c.322-18C= (n.322-18C=) n.703-18C= c.322-21C= (n.322-21C=) c.466-18C= (n.466-18C=) | |
2 | g.222295676G>A | CA2663323854 | PAX3 | c.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 |
2 | g.222295676G= | CA1330545823 | PAX3 | c.322-19C= (n.322-19C=) n.703-19C= c.322-22C= (n.322-22C=) c.466-19C= (n.466-19C=) | |
2 | g.222295676G>T | CA1330545824 | PAX3 | c.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 |
2 | g.222295677C>A | CA2135767 | PAX3 | c.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 |
2 | g.222295677C= | CA1330545826 | PAX3 | c.322-20G= (n.322-20G=) n.703-20G= c.322-23G= (n.322-23G=) c.466-20G= (n.466-20G=) | |
2 | g.222295677C>T | CA1330545825 | PAX3 | c.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 |
2 | g.222295677_222295681dup | CA539496908 | PAX3 | c.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 |
2 | g.222295678A>G | CA2663323855 | PAX3 | c.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 |