Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222297097_222297113del | CA2586971546 | PAX3 | c.191_207del (p.His64LeufsTer?) n.572_588del c.335_351del (p.His112LeufsTer?) | |
2 | g.222297093G>A | CA351113588 | PAX3 | c.206C>T (p.Pro69Leu) n.587C>T c.350C>T (p.Pro117Leu) | |
2 | g.222297093G>C | CA351113589 | PAX3 | c.206C>G (p.Pro69Arg) n.587C>G c.350C>G (p.Pro117Arg) | |
2 | g.222297093G>T | CA351113590 | PAX3 | c.206C>A (p.Pro69His) n.587C>A c.350C>A (p.Pro117His) | |
2 | g.222297094G>A | CA351113591 | PAX3 | c.205C>T (p.Pro69Ser) n.586C>T c.349C>T (p.Pro117Ser) | |
2 | g.222297094G>C | CA351113592 | PAX3 | c.205C>G (p.Pro69Ala) n.586C>G c.349C>G (p.Pro117Ala) | gnomAD v4 |
2 | g.222297094G>T | CA351113593 | PAX3 | c.205C>A (p.Pro69Thr) n.586C>A c.349C>A (p.Pro117Thr) | |
2 | g.222297095C>A | CA431575959 | PAX3 | c.204G>T (p.Arg68=) n.585G>T c.348G>T (p.Arg116=) | |
2 | g.222297095C>G | CA431575958 | PAX3 | c.204G>C (p.Arg68=) n.585G>C c.348G>C (p.Arg116=) | |
2 | g.222297095C>T | CA431575957 | PAX3 | c.204G>A (p.Arg68=) n.585G>A c.348G>A (p.Arg116=) | gnomAD v4 |
2 | g.222297096C>A | CA351113595 | PAX3 | c.203G>T (p.Arg68Leu) n.584G>T c.347G>T (p.Arg116Leu) | |
2 | g.222297096C>G | CA351113596 | PAX3 | c.203G>C (p.Arg68Pro) n.584G>C c.347G>C (p.Arg116Pro) | |
2 | g.222297096C>T | CA351113594 | PAX3 | c.203G>A (p.Arg68Gln) n.584G>A c.347G>A (p.Arg116Gln) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297096_222297114delinsCGGATGCCGTGGTGGGCCA | CA1330546531 | PAX3 | c.185_203delinsTGGCCCACCACGGCATCCG (p.Met62=) n.566_584delinsTGGCCCACCACGGCATCCG c.329_347delinsTGGCCCACCACGGCATCCG (p.Met110=) | |
2 | g.222297097G>A | CA351113597 | PAX3 | c.202C>T (p.Arg68Trp) n.583C>T c.346C>T (p.Arg116Trp) | ClinVar dbSNP |
2 | g.222297097G>C | CA351113598 | PAX3 | c.202C>G (p.Arg68Gly) n.583C>G c.346C>G (p.Arg116Gly) | |
2 | g.222297097G>T | CA431575960 | PAX3 | c.202C>A (p.Arg68=) n.583C>A c.346C>A (p.Arg116=) | |
2 | g.222297097_222297114del | CA913190013 | PAX3 | c.185_202del (p.Met62_Ile67del) n.566_583del c.329_346del (p.Met110_Ile115del) | ClinVar dbSNP |
2 | g.222297098G>A | CA431575961 | PAX3 | c.201C>T (p.Ile67=) n.582C>T c.345C>T (p.Ile115=) | |
2 | g.222297098G>C | CA351113599 | PAX3 | c.201C>G (p.Ile67Met) n.582C>G c.345C>G (p.Ile115Met) | |
2 | g.222297098G>T | CA431575962 | PAX3 | c.201C>A (p.Ile67=) n.582C>A c.345C>A (p.Ile115=) | |
2 | g.222297099A>C | CA351113600 | PAX3 | c.200T>G (p.Ile67Ser) n.581T>G c.344T>G (p.Ile115Ser) | |
2 | g.222297099A>G | CA351113601 | PAX3 | c.200T>C (p.Ile67Thr) n.581T>C c.344T>C (p.Ile115Thr) | COSMIC |
2 | g.222297099A>T | CA351113602 | PAX3 | c.200T>A (p.Ile67Asn) n.581T>A c.344T>A (p.Ile115Asn) | |
2 | g.222297100T>A | CA351113603 | PAX3 | c.199A>T (p.Ile67Phe) n.580A>T c.343A>T (p.Ile115Phe) | |
2 | g.222297100T>C | CA351113604 | PAX3 | c.199A>G (p.Ile67Val) n.580A>G c.343A>G (p.Ile115Val) | |
2 | g.222297100T>G | CA351113605 | PAX3 | c.199A>C (p.Ile67Leu) n.580A>C c.343A>C (p.Ile115Leu) | |
2 | g.222297101G>A | CA431575963 | PAX3 | c.198C>T (p.Gly66=) n.579C>T c.342C>T (p.Gly114=) | |
2 | g.222297101G>C | CA431575965 | PAX3 | c.198C>G (p.Gly66=) n.579C>G c.342C>G (p.Gly114=) | |
2 | g.222297101G>T | CA431575964 | PAX3 | c.198C>A (p.Gly66=) n.579C>A c.342C>A (p.Gly114=) | |
2 | g.222297102C>A | CA351113606 | PAX3 | c.197G>T (p.Gly66Val) n.578G>T c.341G>T (p.Gly114Val) | |
2 | g.222297102C>G | CA351113607 | PAX3 | c.197G>C (p.Gly66Ala) n.578G>C c.341G>C (p.Gly114Ala) | |
2 | g.222297102C>T | CA351113608 | PAX3 | c.197G>A (p.Gly66Asp) n.578G>A c.341G>A (p.Gly114Asp) | |
2 | g.222297103C>A | CA351113610 | PAX3 | c.196G>T (p.Gly66Cys) n.577G>T c.340G>T (p.Gly114Cys) | |
2 | g.222297103C= | CA1330546532 | PAX3 | c.196G= (p.Gly66=) n.577G= c.340G= (p.Gly114=) | |
2 | g.222297103C>G | CA351113611 | PAX3 | c.196G>C (p.Gly66Arg) n.577G>C c.340G>C (p.Gly114Arg) | gnomAD v4 |
2 | g.222297103C>T | CA351113609 | PAX3 | c.196G>A (p.Gly66Ser) n.577G>A c.340G>A (p.Gly114Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297104G>A | CA431575966 | PAX3 | c.195C>T (p.His65=) n.576C>T c.339C>T (p.His113=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.222297104G>C | CA351113612 | PAX3 | c.195C>G (p.His65Gln) n.576C>G c.339C>G (p.His113Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297104G= | CA1330546533 | PAX3 | c.195C= (p.His65=) n.576C= c.339C= (p.His113=) | |
2 | g.222297104G>T | CA351113613 | PAX3 | c.195C>A (p.His65Gln) n.576C>A c.339C>A (p.His113Gln) | |
2 | g.222297105T>A | CA351113614 | PAX3 | c.194A>T (p.His65Leu) n.575A>T c.338A>T (p.His113Leu) | |
2 | g.222297105T>C | CA351113615 | PAX3 | c.194A>G (p.His65Arg) n.575A>G c.338A>G (p.His113Arg) | |
2 | g.222297105T>G | CA351113616 | PAX3 | c.194A>C (p.His65Pro) n.575A>C c.338A>C (p.His113Pro) | |
2 | g.222297106G>A | CA351113619 | PAX3 | c.193C>T (p.His65Tyr) n.574C>T c.337C>T (p.His113Tyr) | |
2 | g.222297106G>C | CA351113617 | PAX3 | c.193C>G (p.His65Asp) n.574C>G c.337C>G (p.His113Asp) | |
2 | g.222297106G= | CA1330546534 | PAX3 | c.193C= (p.His65=) n.574C= c.337C= (p.His113=) | |
2 | g.222297106G>T | CA351113618 | PAX3 | c.193C>A (p.His65Asn) n.574C>A c.337C>A (p.His113Asn) | dbSNP gnomAD v4 |
2 | g.222297107G>A | CA431575967 | PAX3 | c.192C>T (p.His64=) n.573C>T c.336C>T (p.His112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297107G>C | CA351113620 | PAX3 | c.192C>G (p.His64Gln) n.573C>G c.336C>G (p.His112Gln) | |
2 | g.222297107G= | CA1330546535 | PAX3 | c.192C= (p.His64=) n.573C= c.336C= (p.His112=) | |
2 | g.222297107G>T | CA351113621 | PAX3 | c.192C>A (p.His64Gln) n.573C>A c.336C>A (p.His112Gln) | gnomAD v4 |
2 | g.222297108T>A | CA351113622 | PAX3 | c.191A>T (p.His64Leu) n.572A>T c.335A>T (p.His112Leu) | |
2 | g.222297108T>C | CA351113623 | PAX3 | c.191A>G (p.His64Arg) n.572A>G c.335A>G (p.His112Arg) | gnomAD v4 |
2 | g.222297108T>G | CA351113624 | PAX3 | c.191A>C (p.His64Pro) n.572A>C c.335A>C (p.His112Pro) | dbSNP |
2 | g.222297108T= | CA1330546536 | PAX3 | c.191A= (p.His64=) n.572A= c.335A= (p.His112=) | |
2 | g.222297109G>A | CA351113625 | PAX3 | c.190C>T (p.His64Tyr) n.571C>T c.334C>T (p.His112Tyr) | dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.222297109G>C | CA351113627 | PAX3 | c.190C>G (p.His64Asp) n.571C>G c.334C>G (p.His112Asp) | |
2 | g.222297109G= | CA1330546537 | PAX3 | c.190C= (p.His64=) n.571C= c.334C= (p.His112=) | |
2 | g.222297109G>T | CA351113626 | PAX3 | c.190C>A (p.His64Asn) n.571C>A c.334C>A (p.His112Asn) | |
2 | g.222297111del | CA2754394822 | PAX3 | c.190del (p.His64ThrfsTer?) n.571del c.334del (p.His112ThrfsTer?) | |
2 | g.222297110G>A | CA2135795 | PAX3 | c.189C>T (p.Ala63=) n.570C>T c.333C>T (p.Ala111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297110G>C | CA431575968 | PAX3 | c.189C>G (p.Ala63=) n.570C>G c.333C>G (p.Ala111=) | gnomAD v4 |
2 | g.222297110G= | CA1330546538 | PAX3 | c.189C= (p.Ala63=) n.570C= c.333C= (p.Ala111=) | |
2 | g.222297110G>T | CA431575969 | PAX3 | c.189C>A (p.Ala63=) n.570C>A c.333C>A (p.Ala111=) | COSMIC |
2 | g.222297111G>A | CA351113630 | PAX3 | c.188C>T (p.Ala63Val) n.569C>T c.332C>T (p.Ala111Val) | dbSNP |
2 | g.222297111G>C | CA351113628 | PAX3 | c.188C>G (p.Ala63Gly) n.569C>G c.332C>G (p.Ala111Gly) | |
2 | g.222297111G= | CA1330546539 | PAX3 | c.188C= (p.Ala63=) n.569C= c.332C= (p.Ala111=) | |
2 | g.222297111G>T | CA351113629 | PAX3 | c.188C>A (p.Ala63Asp) n.569C>A c.332C>A (p.Ala111Asp) | |
2 | g.222297112C>A | CA351113631 | PAX3 | c.187G>T (p.Ala63Ser) n.568G>T c.331G>T (p.Ala111Ser) | |
2 | g.222297112C= | CA1330546540 | PAX3 | c.187G= (p.Ala63=) n.568G= c.331G= (p.Ala111=) | |
2 | g.222297112C>G | CA351113632 | PAX3 | c.187G>C (p.Ala63Pro) n.568G>C c.331G>C (p.Ala111Pro) | dbSNP |
2 | g.222297112C>T | CA351113633 | PAX3 | c.187G>A (p.Ala63Thr) n.568G>A c.331G>A (p.Ala111Thr) | |
2 | g.222297113C>A | CA351113634 | PAX3 | c.186G>T (p.Met62Ile) n.567G>T c.330G>T (p.Met110Ile) | |
2 | g.222297113C>G | CA351113635 | PAX3 | c.186G>C (p.Met62Ile) n.567G>C c.330G>C (p.Met110Ile) | |
2 | g.222297113C>T | CA351113636 | PAX3 | c.186G>A (p.Met62Ile) n.567G>A c.330G>A (p.Met110Ile) | |
2 | g.222297114A>C | CA351113637 | PAX3 | c.185T>G (p.Met62Arg) n.566T>G c.329T>G (p.Met110Arg) | |
2 | g.222297114A>G | CA351113638 | PAX3 | c.185T>C (p.Met62Thr) n.566T>C c.329T>C (p.Met110Thr) | |
2 | g.222297114A>T | CA351113639 | PAX3 | c.185T>A (p.Met62Lys) n.566T>A c.329T>A (p.Met110Lys) | ClinVar dbSNP |
2 | g.222297115T>A | CA351113640 | PAX3 | c.184A>T (p.Met62Leu) n.565A>T c.328A>T (p.Met110Leu) | |
2 | g.222297115T>C | CA351113641 | PAX3 | c.184A>G (p.Met62Val) n.565A>G c.328A>G (p.Met110Val) | ClinVar dbSNP |
2 | g.222297115T>G | CA351113642 | PAX3 | c.184A>C (p.Met62Leu) n.565A>C c.328A>C (p.Met110Leu) | |
2 | g.222297116C>A | CA351113643 | PAX3 | c.183G>T (p.Glu61Asp) n.564G>T c.327G>T (p.Glu109Asp) | gnomAD v4 |
2 | g.222297116C>G | CA351113644 | PAX3 | c.183G>C (p.Glu61Asp) n.564G>C c.327G>C (p.Glu109Asp) | |
2 | g.222297116C>T | CA431575970 | PAX3 | c.183G>A (p.Glu61=) n.564G>A c.327G>A (p.Glu109=) | |
2 | g.222297117T>A | CA351113645 | PAX3 | c.182A>T (p.Glu61Val) n.563A>T c.326A>T (p.Glu109Val) | |
2 | g.222297117T>C | CA351113646 | PAX3 | c.182A>G (p.Glu61Gly) n.563A>G c.326A>G (p.Glu109Gly) | |
2 | g.222297117T>G | CA351113647 | PAX3 | c.182A>C (p.Glu61Ala) n.563A>C c.326A>C (p.Glu109Ala) | |
2 | g.222297118C>A | CA351113648 | PAX3 | c.181G>T (p.Glu61Ter) n.562G>T c.325G>T (p.Glu109Ter) | |
2 | g.222297118C>G | CA351113649 | PAX3 | c.181G>C (p.Glu61Gln) n.562G>C c.325G>C (p.Glu109Gln) | |
2 | g.222297118C>T | CA351113650 | PAX3 | c.181G>A (p.Glu61Lys) n.562G>A c.325G>A (p.Glu109Lys) | |
2 | g.222297119C>A | CA431575971 | PAX3 | c.180G>T (p.Val60=) n.561G>T c.324G>T (p.Val108=) | |
2 | g.222297119C>G | CA431575972 | PAX3 | c.180G>C (p.Val60=) n.561G>C c.324G>C (p.Val108=) | |
2 | g.222297119C>T | CA431575973 | PAX3 | c.180G>A (p.Val60=) n.561G>A c.324G>A (p.Val108=) | |
2 | g.222297120A>C | CA351113651 | PAX3 | c.179T>G (p.Val60Gly) n.560T>G c.323T>G (p.Val108Gly) | |
2 | g.222297120A>G | CA351113652 | PAX3 | c.179T>C (p.Val60Ala) n.560T>C c.323T>C (p.Val108Ala) | dbSNP |
2 | g.222297120A>T | CA351113653 | PAX3 | c.179T>A (p.Val60Glu) n.560T>A c.323T>A (p.Val108Glu) | ClinVar |
2 | g.222297121C>A | CA351113654 | PAX3 | c.178G>T (p.Val60Leu) n.559G>T c.322G>T (p.Val108Leu) | |
2 | g.222297121C>G | CA351113655 | PAX3 | c.178G>C (p.Val60Leu) n.559G>C c.322G>C (p.Val108Leu) | |
2 | g.222297121C>T | CA351113656 | PAX3 | c.178G>A (p.Val60Met) n.559G>A c.322G>A (p.Val108Met) | gnomAD v4 |
2 | g.222297122G>A | CA431575975 | PAX3 | c.177C>T (p.Ile59=) n.558C>T c.321C>T (p.Ile107=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.222297122G>C | CA351113657 | PAX3 | c.177C>G (p.Ile59Met) n.558C>G c.321C>G (p.Ile107Met) | |
2 | g.222297122G= | CA1330546541 | PAX3 | c.177C= (p.Ile59=) n.558C= c.321C= (p.Ile107=) | |
2 | g.222297122G>T | CA431575974 | PAX3 | c.177C>A (p.Ile59=) n.558C>A c.321C>A (p.Ile107=) | gnomAD v4 |
2 | g.222297123A>C | CA351113660 | PAX3 | c.176T>G (p.Ile59Ser) n.557T>G c.320T>G (p.Ile107Ser) | |
2 | g.222297123A>G | CA351113658 | PAX3 | c.176T>C (p.Ile59Thr) n.557T>C c.320T>C (p.Ile107Thr) | |
2 | g.222297123A>T | CA351113659 | PAX3 | c.176T>A (p.Ile59Asn) n.557T>A c.320T>A (p.Ile107Asn) | |
2 | g.222297124T>A | CA351113661 | PAX3 | c.175A>T (p.Ile59Phe) n.556A>T c.319A>T (p.Ile107Phe) | |
2 | g.222297124T>C | CA351113662 | PAX3 | c.175A>G (p.Ile59Val) n.556A>G c.319A>G (p.Ile107Val) | |
2 | g.222297124T>G | CA351113663 | PAX3 | c.175A>C (p.Ile59Leu) n.556A>C c.319A>C (p.Ile107Leu) | |
2 | g.222297125C>A | CA351113664 | PAX3 | c.174G>T (p.Lys58Asn) n.555G>T c.318G>T (p.Lys106Asn) | |
2 | g.222297125C>G | CA351113665 | PAX3 | c.174G>C (p.Lys58Asn) n.555G>C c.318G>C (p.Lys106Asn) | |
2 | g.222297125C>T | CA431575976 | PAX3 | c.174G>A (p.Lys58=) n.555G>A c.318G>A (p.Lys106=) | |
2 | g.222297125_222297129delinsGTG | CA2586971547 | PAX3 | c.170_174delinsCAC (p.His57ProfsTer?) n.551_555delinsCAC c.314_318delinsCAC (p.His105ProfsTer?) | |
2 | g.222297126T>A | CA351113666 | PAX3 | c.173A>T (p.Lys58Met) n.554A>T c.317A>T (p.Lys106Met) | |
2 | g.222297126T>C | CA351113667 | PAX3 | c.173A>G (p.Lys58Arg) n.554A>G c.317A>G (p.Lys106Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.222297126T>G | CA351113668 | PAX3 | c.173A>C (p.Lys58Thr) n.554A>C c.317A>C (p.Lys106Thr) | |
2 | g.222297126T= | CA1330546542 | PAX3 | c.173A= (p.Lys58=) n.554A= c.317A= (p.Lys106=) | |
2 | g.222297127T>A | CA351113669 | PAX3 | c.172A>T (p.Lys58Ter) n.553A>T c.316A>T (p.Lys106Ter) | |
2 | g.222297127T>C | CA351113670 | PAX3 | c.172A>G (p.Lys58Glu) n.553A>G c.316A>G (p.Lys106Glu) | |
2 | g.222297127T>G | CA351113671 | PAX3 | c.172A>C (p.Lys58Gln) n.553A>C c.316A>C (p.Lys106Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297127T= | CA1330546543 | PAX3 | c.172A= (p.Lys58=) n.553A= c.316A= (p.Lys106=) | |
2 | g.222297132_222297140del | CA2586971549 | PAX3 | c.164_172del (p.Ile55_His57del) n.545_553del c.308_316del (p.Ile103_His105del) | |
2 | g.222297128G>A | CA431575977 | PAX3 | c.171C>T (p.His57=) n.552C>T c.315C>T (p.His105=) | |
2 | g.222297128G>C | CA351113673 | PAX3 | c.171C>G (p.His57Gln) n.552C>G c.315C>G (p.His105Gln) | |
2 | g.222297128G>T | CA351113672 | PAX3 | c.171C>A (p.His57Gln) n.552C>A c.315C>A (p.His105Gln) | |
2 | g.222297129T>A | CA351113674 | PAX3 | c.170A>T (p.His57Leu) n.551A>T c.314A>T (p.His105Leu) | |
2 | g.222297129T>C | CA351113675 | PAX3 | c.170A>G (p.His57Arg) n.551A>G c.314A>G (p.His105Arg) | |
2 | g.222297129T>G | CA351113676 | PAX3 | c.170A>C (p.His57Pro) n.551A>C c.314A>C (p.His105Pro) | |
2 | g.222297130G>A | CA351113677 | PAX3 | c.169C>T (p.His57Tyr) n.550C>T c.313C>T (p.His105Tyr) | |
2 | g.222297130G>C | CA351113678 | PAX3 | c.169C>G (p.His57Asp) n.550C>G c.313C>G (p.His105Asp) | |
2 | g.222297130G>T | CA351113679 | PAX3 | c.169C>A (p.His57Asn) n.550C>A c.313C>A (p.His105Asn) | |
2 | g.222297131del | CA2586971550 | PAX3 | c.169del (p.His57ThrfsTer?) n.550del c.313del (p.His105ThrfsTer?) | |
2 | g.222297131G>A | CA431575978 | PAX3 | c.168C>T (p.Arg56=) n.549C>T c.312C>T (p.Arg104=) | |
2 | g.222297131G>C | CA431575979 | PAX3 | c.168C>G (p.Arg56=) n.549C>G c.312C>G (p.Arg104=) | |
2 | g.222297131G>T | CA431575980 | PAX3 | c.168C>A (p.Arg56=) n.549C>A c.312C>A (p.Arg104=) | |
2 | g.222297132C>A | CA253050 | PAX3 | c.167G>T (p.Arg56Leu) n.548G>T c.311G>T (p.Arg104Leu) | ClinVar dbSNP |
2 | g.222297132C= | CA1330546544 | PAX3 | c.167G= (p.Arg56=) n.548G= c.311G= (p.Arg104=) | |
2 | g.222297132C>G | CA351113680 | PAX3 | c.167G>C (p.Arg56Pro) n.548G>C c.311G>C (p.Arg104Pro) | dbSNP gnomAD v4 |
2 | g.222297132C>T | CA351113681 | PAX3 | c.167G>A (p.Arg56His) n.548G>A c.311G>A (p.Arg104His) | |
2 | g.222297133G>A | CA351113682 | PAX3 | c.166C>T (p.Arg56Cys) n.547C>T c.310C>T (p.Arg104Cys) | ClinVar dbSNP gnomAD v2 |
2 | g.222297133G>C | CA351113683 | PAX3 | c.166C>G (p.Arg56Gly) n.547C>G c.310C>G (p.Arg104Gly) | |
2 | g.222297133G= | CA1330546545 | PAX3 | c.166C= (p.Arg56=) n.547C= c.310C= (p.Arg104=) | |
2 | g.222297133G>T | CA351113684 | PAX3 | c.166C>A (p.Arg56Ser) n.547C>A c.310C>A (p.Arg104Ser) | |
2 | g.222297134G>A | CA431575981 | PAX3 | c.165C>T (p.Ile55=) n.546C>T c.309C>T (p.Ile103=) | gnomAD v4 |
2 | g.222297134G>C | CA351113685 | PAX3 | c.165C>G (p.Ile55Met) n.546C>G c.309C>G (p.Ile103Met) | |
2 | g.222297134G>T | CA431575982 | PAX3 | c.165C>A (p.Ile55=) n.546C>A c.309C>A (p.Ile103=) | |
2 | g.222297135A= | CA1330546546 | PAX3 | c.164T= (p.Ile55=) n.545T= c.308T= (p.Ile103=) | |
2 | g.222297135A>C | CA351113687 | PAX3 | c.164T>G (p.Ile55Ser) n.545T>G c.308T>G (p.Ile103Ser) | |
2 | g.222297135A>G | CA351113688 | PAX3 | c.164T>C (p.Ile55Thr) n.545T>C c.308T>C (p.Ile103Thr) | dbSNP gnomAD v4 |
2 | g.222297135A>T | CA351113686 | PAX3 | c.164T>A (p.Ile55Asn) n.545T>A c.308T>A (p.Ile103Asn) | |
2 | g.222297136T>A | CA351113691 | PAX3 | c.163A>T (p.Ile55Phe) n.544A>T c.307A>T (p.Ile103Phe) | |
2 | g.222297136T>C | CA351113689 | PAX3 | c.163A>G (p.Ile55Val) n.544A>G c.307A>G (p.Ile103Val) | ClinVar dbSNP gnomAD v4 |
2 | g.222297136T>G | CA351113690 | PAX3 | c.163A>C (p.Ile55Leu) n.544A>C c.307A>C (p.Ile103Leu) | dbSNP |
2 | g.222297136T= | CA1330546547 | PAX3 | c.163A= (p.Ile55=) n.544A= c.307A= (p.Ile103=) | |
2 | g.222297137G>A | CA431575983 | PAX3 | c.162C>T (p.His54=) n.543C>T c.306C>T (p.His102=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297137G>C | CA351113692 | PAX3 | c.162C>G (p.His54Gln) n.543C>G c.306C>G (p.His102Gln) | |
2 | g.222297137G= | CA1330546548 | PAX3 | c.162C= (p.His54=) n.543C= c.306C= (p.His102=) | |
2 | g.222297137G>T | CA351113693 | PAX3 | c.162C>A (p.His54Gln) n.543C>A c.306C>A (p.His102Gln) | |
2 | g.222297138T>A | CA351113694 | PAX3 | c.161A>T (p.His54Leu) n.542A>T c.305A>T (p.His102Leu) | |
2 | g.222297138T>C | CA351113695 | PAX3 | c.161A>G (p.His54Arg) n.542A>G c.305A>G (p.His102Arg) | gnomAD v4 |
2 | g.222297138T>G | CA351113696 | PAX3 | c.161A>C (p.His54Pro) n.542A>C c.305A>C (p.His102Pro) | dbSNP |
2 | g.222297138T= | CA1330546550 | PAX3 | c.161A= (p.His54=) n.542A= c.305A= (p.His102=) | |
2 | g.222297138_222297150delinsTGGTTGGGCAGCG | CA1330546549 | PAX3 | c.149_161delinsCGCTGCCCAACCA (p.Pro50=) n.530_542delinsCGCTGCCCAACCA c.293_305delinsCGCTGCCCAACCA (p.Pro98=) | |
2 | g.222297139G>A | CA351113699 | PAX3 | c.160C>T (p.His54Tyr) n.541C>T c.304C>T (p.His102Tyr) | gnomAD v4 |
2 | g.222297139G>C | CA351113697 | PAX3 | c.160C>G (p.His54Asp) n.541C>G c.304C>G (p.His102Asp) | |
2 | g.222297139G>T | CA351113698 | PAX3 | c.160C>A (p.His54Asn) n.541C>A c.304C>A (p.His102Asn) | gnomAD v4 |
2 | g.222297140_222297151del | CA658796186 | PAX3 | c.149_160del (p.Pro50_Asn53del) n.530_541del c.293_304del (p.Pro98_Asn101del) | ClinVar dbSNP |
2 | g.222297139_222297140insCTTTCTTTCTTTTT | CA2663324104 | PAX3 | c.159_160insAAAAAGAAAGAAAG (p.His54LysfsTer?) n.540_541insAAAAAGAAAGAAAG c.303_304insAAAAAGAAAGAAAG (p.His102LysfsTer?) | gnomAD v4 |
2 | g.222297140G>A | CA431575984 | PAX3 | c.159C>T (p.Asn53=) n.540C>T c.303C>T (p.Asn101=) | |
2 | g.222297140G>C | CA351113700 | PAX3 | c.159C>G (p.Asn53Lys) n.540C>G c.303C>G (p.Asn101Lys) | |
2 | g.222297140G>T | CA351113701 | PAX3 | c.159C>A (p.Asn53Lys) n.540C>A c.303C>A (p.Asn101Lys) | |
2 | g.222297140_222297141insCGTTTGTACCC | CA2663324105 | PAX3 | c.158_159insGGGTACAAACG (p.Asn53LysfsTer?) n.539_540insGGGTACAAACG c.302_303insGGGTACAAACG (p.Asn101LysfsTer?) | gnomAD v4 |
2 | g.222297141T>A | CA351113702 | PAX3 | c.158A>T (p.Asn53Ile) n.539A>T c.302A>T (p.Asn101Ile) | |
2 | g.222297141T>C | CA351113703 | PAX3 | c.158A>G (p.Asn53Ser) n.539A>G c.302A>G (p.Asn101Ser) | |
2 | g.222297141T>G | CA351113704 | PAX3 | c.158A>C (p.Asn53Thr) n.539A>C c.302A>C (p.Asn101Thr) | dbSNP |
2 | g.222297141T= | CA1330546551 | PAX3 | c.158A= (p.Asn53=) n.539A= c.302A= (p.Asn101=) | |
2 | g.222297142T>A | CA351113707 | PAX3 | c.157A>T (p.Asn53Tyr) n.538A>T c.301A>T (p.Asn101Tyr) | |
2 | g.222297142T>C | CA351113705 | PAX3 | c.157A>G (p.Asn53Asp) n.538A>G c.301A>G (p.Asn101Asp) | |
2 | g.222297142T>G | CA351113706 | PAX3 | c.157A>C (p.Asn53His) n.538A>C c.301A>C (p.Asn101His) | gnomAD v4 |
2 | g.222297143G>A | CA431575985 | PAX3 | c.156C>T (p.Pro52=) n.537C>T c.300C>T (p.Pro100=) | gnomAD v4 |
2 | g.222297143G>C | CA2135796 | PAX3 | c.156C>G (p.Pro52=) n.537C>G c.300C>G (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297143G= | CA1330546552 | PAX3 | c.156C= (p.Pro52=) n.537C= c.300C= (p.Pro100=) | |
2 | g.222297143G>T | CA431575986 | PAX3 | c.156C>A (p.Pro52=) n.537C>A c.300C>A (p.Pro100=) | |
2 | g.222297144G>A | CA351113708 | PAX3 | c.155C>T (p.Pro52Leu) n.536C>T c.299C>T (p.Pro100Leu) | |
2 | g.222297144G>C | CA351113709 | PAX3 | c.155C>G (p.Pro52Arg) n.536C>G c.299C>G (p.Pro100Arg) | |
2 | g.222297144G>T | CA351113710 | PAX3 | c.155C>A (p.Pro52His) n.536C>A c.299C>A (p.Pro100His) | |
2 | g.222297145G>A | CA351113711 | PAX3 | c.154C>T (p.Pro52Ser) n.535C>T c.298C>T (p.Pro100Ser) | |
2 | g.222297145G>C | CA351113712 | PAX3 | c.154C>G (p.Pro52Ala) n.535C>G c.298C>G (p.Pro100Ala) | |
2 | g.222297145G>T | CA351113713 | PAX3 | c.154C>A (p.Pro52Thr) n.535C>A c.298C>A (p.Pro100Thr) | |
2 | g.222297146C>A | CA431575987 | PAX3 | c.153G>T (p.Leu51=) n.534G>T c.297G>T (p.Leu99=) | gnomAD v4 |
2 | g.222297146C= | CA1330546553 | PAX3 | c.153G= (p.Leu51=) n.534G= c.297G= (p.Leu99=) | |
2 | g.222297146C>G | CA66340693 | PAX3 | c.153G>C (p.Leu51=) n.534G>C c.297G>C (p.Leu99=) | dbSNP |
2 | g.222297146C>T | CA431575988 | PAX3 | c.153G>A (p.Leu51=) n.534G>A c.297G>A (p.Leu99=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297147A= | CA1330546554 | PAX3 | c.152T= (p.Leu51=) n.533T= c.296T= (p.Leu99=) | |
2 | g.222297147A>C | CA351113714 | PAX3 | c.152T>G (p.Leu51Arg) n.533T>G c.296T>G (p.Leu99Arg) | |
2 | g.222297147A>G | CA351113715 | PAX3 | c.152T>C (p.Leu51Pro) n.533T>C c.296T>C (p.Leu99Pro) | dbSNP |
2 | g.222297147A>T | CA351113716 | PAX3 | c.152T>A (p.Leu51Gln) n.533T>A c.296T>A (p.Leu99Gln) | |
2 | g.222297148G>A | CA431575989 | PAX3 | c.151C>T (p.Leu51=) n.532C>T c.295C>T (p.Leu99=) | |
2 | g.222297148G>C | CA351113717 | PAX3 | c.151C>G (p.Leu51Val) n.532C>G c.295C>G (p.Leu99Val) | |
2 | g.222297148G>T | CA351113718 | PAX3 | c.151C>A (p.Leu51Met) n.532C>A c.295C>A (p.Leu99Met) | |
2 | g.222297149C>A | CA431575990 | PAX3 | c.150G>T (p.Pro50=) n.531G>T c.294G>T (p.Pro98=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297149C= | CA1330546555 | PAX3 | c.150G= (p.Pro50=) n.531G= c.294G= (p.Pro98=) | |
2 | g.222297149C>G | CA431575991 | PAX3 | c.150G>C (p.Pro50=) n.531G>C c.294G>C (p.Pro98=) | dbSNP |
2 | g.222297149C>T | CA2135797 | PAX3 | c.150G>A (p.Pro50=) n.531G>A c.294G>A (p.Pro98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297150G>A | CA253048 | PAX3 | c.149C>T (p.Pro50Leu) n.530C>T c.293C>T (p.Pro98Leu) | ClinVar dbSNP |
2 | g.222297150G>C | CA351113720 | PAX3 | c.149C>G (p.Pro50Arg) n.530C>G c.293C>G (p.Pro98Arg) | |
2 | g.222297150G= | CA1330546556 | PAX3 | c.149C= (p.Pro50=) n.530C= c.293C= (p.Pro98=) | |
2 | g.222297150G>T | CA351113719 | PAX3 | c.149C>A (p.Pro50Gln) n.530C>A c.293C>A (p.Pro98Gln) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297151G>A | CA351113721 | PAX3 | c.148C>T (p.Pro50Ser) n.529C>T c.292C>T (p.Pro98Ser) | |
2 | g.222297151G>C | CA351113722 | PAX3 | c.148C>G (p.Pro50Ala) n.529C>G c.292C>G (p.Pro98Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297151G= | CA1330546557 | PAX3 | c.148C= (p.Pro50=) n.529C= c.292C= (p.Pro98=) | |
2 | g.222297151G>T | CA351113723 | PAX3 | c.148C>A (p.Pro50Thr) n.529C>A c.292C>A (p.Pro98Thr) | |
2 | g.222297154_222297157dup | CA2586971551 | PAX3 | c.145_148dup (p.Pro50GlnfsTer?) n.526_529dup c.289_292dup (p.Pro98GlnfsTer?) | |
2 | g.222297152C>A | CA351113724 | PAX3 | c.147G>T (p.Arg49Ser) n.528G>T c.291G>T (p.Arg97Ser) | |
2 | g.222297152C>G | CA351113725 | PAX3 | c.147G>C (p.Arg49Ser) n.528G>C c.291G>C (p.Arg97Ser) | |
2 | g.222297152C>T | CA431575992 | PAX3 | c.147G>A (p.Arg49=) n.528G>A c.291G>A (p.Arg97=) | |
2 | g.222297153C>A | CA351113726 | PAX3 | c.146G>T (p.Arg49Met) n.527G>T c.290G>T (p.Arg97Met) | |
2 | g.222297153C>G | CA351113727 | PAX3 | c.146G>C (p.Arg49Thr) n.527G>C c.290G>C (p.Arg97Thr) | |
2 | g.222297153C>T | CA351113728 | PAX3 | c.146G>A (p.Arg49Lys) n.527G>A c.290G>A (p.Arg97Lys) | |
2 | g.222297154T>A | CA351113729 | PAX3 | c.145A>T (p.Arg49Trp) n.526A>T c.289A>T (p.Arg97Trp) | |
2 | g.222297154T>C | CA351113730 | PAX3 | c.145A>G (p.Arg49Gly) n.526A>G c.289A>G (p.Arg97Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297154T>G | CA431575993 | PAX3 | c.145A>C (p.Arg49=) n.526A>C c.289A>C (p.Arg97=) | |
2 | g.222297154T= | CA1330546558 | PAX3 | c.145A= (p.Arg49=) n.526A= c.289A= (p.Arg97=) | |
2 | g.222297155G>A | CA431575994 | PAX3 | c.144C>T (p.Gly48=) n.525C>T c.288C>T (p.Gly96=) | ClinVar dbSNP |
2 | g.222297155G>C | CA431575995 | PAX3 | c.144C>G (p.Gly48=) n.525C>G c.288C>G (p.Gly96=) | |
2 | g.222297155G= | CA1330546560 | PAX3 | c.144C= (p.Gly48=) n.525C= c.288C= (p.Gly96=) | |
2 | g.222297155G>T | CA431575996 | PAX3 | c.144C>A (p.Gly48=) n.525C>A c.288C>A (p.Gly96=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297155_222297156delinsGC | CA1330546559 | PAX3 | c.143_144delinsGC (p.Gly48=) n.524_525delinsGC c.287_288delinsGC (p.Gly96=) | |
2 | g.222297156C>A | CA351113731 | PAX3 | c.143G>T (p.Gly48Val) n.524G>T c.287G>T (p.Gly96Val) | |
2 | g.222297156C= | CA1330546561 | PAX3 | c.143G= (p.Gly48=) n.524G= c.287G= (p.Gly96=) | |
2 | g.222297156C>G | CA66340694 | PAX3 | c.143G>C (p.Gly48Ala) n.524G>C c.287G>C (p.Gly96Ala) | dbSNP gnomAD v4 |
2 | g.222297156C>T | CA351113732 | PAX3 | c.143G>A (p.Gly48Asp) n.524G>A c.287G>A (p.Gly96Asp) | gnomAD v4 |
2 | g.222297157del | CA1139657713 | PAX3 | c.143del (p.Gly48AlafsTer?) n.524del c.287del (p.Gly96AlafsTer?) | ClinVar dbSNP |
2 | g.222297157C>A | CA351113735 | PAX3 | c.142G>T (p.Gly48Cys) n.523G>T c.286G>T (p.Gly96Cys) | ClinVar dbSNP |
2 | g.222297157C= | CA1330546562 | PAX3 | c.142G= (p.Gly48=) n.523G= c.286G= (p.Gly96=) | |
2 | g.222297157C>G | CA351113733 | PAX3 | c.142G>C (p.Gly48Arg) n.523G>C c.286G>C (p.Gly96Arg) | ClinVar dbSNP |
2 | g.222297157C>T | CA351113734 | PAX3 | c.142G>A (p.Gly48Ser) n.523G>A c.286G>A (p.Gly96Ser) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297158G>A | CA431575997 | PAX3 | c.141C>T (p.Asn47=) n.522C>T c.285C>T (p.Asn95=) | gnomAD v4 |
2 | g.222297158G>C | CA116692 | PAX3 | c.141C>G (p.Asn47Lys) n.522C>G c.285C>G (p.Asn95Lys) | ClinVar dbSNP |
2 | g.222297158G= | CA1330546563 | PAX3 | c.141C= (p.Asn47=) n.522C= c.285C= (p.Asn95=) | |
2 | g.222297158G>T | CA351113736 | PAX3 | c.141C>A (p.Asn47Lys) n.522C>A c.285C>A (p.Asn95Lys) | |
2 | g.222297159T>A | CA351113737 | PAX3 | c.140A>T (p.Asn47Ile) n.521A>T c.284A>T (p.Asn95Ile) | |
2 | g.222297159T>C | CA351113738 | PAX3 | c.140A>G (p.Asn47Ser) n.521A>G c.284A>G (p.Asn95Ser) | |
2 | g.222297159T>G | CA351113739 | PAX3 | c.140A>C (p.Asn47Thr) n.521A>C c.284A>C (p.Asn95Thr) | |
2 | g.222297160T>A | CA351113740 | PAX3 | c.139A>T (p.Asn47Tyr) n.520A>T c.283A>T (p.Asn95Tyr) | |
2 | g.222297160T>C | CA351113741 | PAX3 | c.139A>G (p.Asn47Asp) n.520A>G c.283A>G (p.Asn95Asp) | ClinVar |
2 | g.222297160T>G | CA116693 | PAX3 | c.139A>C (p.Asn47His) n.520A>C c.283A>C (p.Asn95His) | ClinVar dbSNP |
2 | g.222297160T= | CA1330546564 | PAX3 | c.139A= (p.Asn47=) n.520A= c.283A= (p.Asn95=) | |
2 | g.222297161G>A | CA431575998 | PAX3 | c.138C>T (p.Ile46=) n.519C>T c.282C>T (p.Ile94=) | gnomAD v4 |
2 | g.222297161G>C | CA351113742 | PAX3 | c.138C>G (p.Ile46Met) n.519C>G c.282C>G (p.Ile94Met) | gnomAD v4 |
2 | g.222297161G>T | CA431575999 | PAX3 | c.138C>A (p.Ile46=) n.519C>A c.282C>A (p.Ile94=) | gnomAD v4 |
2 | g.222297162A= | CA1330546565 | PAX3 | c.137T= (p.Ile46=) n.518T= c.281T= (p.Ile94=) | |
2 | g.222297162A>C | CA351113743 | PAX3 | c.137T>G (p.Ile46Ser) n.518T>G c.281T>G (p.Ile94Ser) | |
2 | g.222297162A>G | CA351113744 | PAX3 | c.137T>C (p.Ile46Thr) n.518T>C c.281T>C (p.Ile94Thr) | |
2 | g.222297162A>T | CA351113745 | PAX3 | c.137T>A (p.Ile46Asn) n.518T>A c.281T>A (p.Ile94Asn) | dbSNP |
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.222297191dup | CA2839710722 | PAX3 | c.109dup (p.Arg37ProfsTer?) n.490dup c.253dup (p.Arg85ProfsTer?) | |
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) |