Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.222297017_222297031delinsGCCAGTCTCCTGGTA	CA1330546500	PAX3	c.268_282delinsTACCAGGAGACTGGC (p.Tyr90=) n.649_663delinsTACCAGGAGACTGGC c.412_426delinsTACCAGGAGACTGGC (p.Tyr138=)
2	g.222297020_222297033del	CA913190012	PAX3	c.268_281del (p.Tyr90LeufsTer19) n.649_662del c.268_281del (p.Tyr90LeufsTer18) c.412_425del (p.Tyr138LeufsTer19)	ClinVar dbSNP
2	g.222297028_222297037dup	CA2697550473	PAX3	c.262_271dup (p.Gln91LeufsTer26) n.643_652dup c.262_271dup (p.Gln91LeufsTer25) c.406_415dup (p.Gln139LeufsTer26)	ClinVar
2	g.222297031A=	CA1330546504	PAX3	c.268T= (p.Tyr90=) n.649T= c.412T= (p.Tyr138=)
2	g.222297031A>C	CA351113459	PAX3	c.268T>G (p.Tyr90Asp) n.649T>G c.412T>G (p.Tyr138Asp)
2	g.222297031A>G	CA116694	PAX3	c.268T>C (p.Tyr90His) n.649T>C c.412T>C (p.Tyr138His)	ClinVar dbSNP
2	g.222297031A>T	CA351113460	PAX3	c.268T>A (p.Tyr90Asn) n.649T>A c.412T>A (p.Tyr138Asn)
2	g.222297032C>A	CA351113461	PAX3	c.267G>T (p.Arg89Ser) n.648G>T c.411G>T (p.Arg137Ser)	gnomAD v4
2	g.222297032C=	CA1330546505	PAX3	c.267G= (p.Arg89=) n.648G= c.411G= (p.Arg137=)
2	g.222297032C>G	CA351113462	PAX3	c.267G>C (p.Arg89Ser) n.648G>C c.411G>C (p.Arg137Ser)	dbSNP
2	g.222297032C>T	CA431575910	PAX3	c.267G>A (p.Arg89=) n.648G>A c.411G>A (p.Arg137=)
2	g.222297033C>A	CA351113463	PAX3	c.266G>T (p.Arg89Met) n.647G>T c.410G>T (p.Arg137Met)
2	g.222297033C>G	CA351113465	PAX3	c.266G>C (p.Arg89Thr) n.647G>C c.410G>C (p.Arg137Thr)	ClinVar
2	g.222297033C>T	CA351113464	PAX3	c.266G>A (p.Arg89Lys) n.647G>A c.410G>A (p.Arg137Lys)
2	g.222297034T>A	CA351113466	PAX3	c.265A>T (p.Arg89Trp) n.646A>T c.409A>T (p.Arg137Trp)
2	g.222297034T>C	CA351113467	PAX3	c.265A>G (p.Arg89Gly) n.646A>G c.409A>G (p.Arg137Gly)
2	g.222297034T>G	CA431575911	PAX3	c.265A>C (p.Arg89=) n.646A>C c.409A>C (p.Arg137=)
2	g.222297034_222297035delinsTG	CA1330546506	PAX3	c.264_265delinsCA (p.Cys88=) n.645_646delinsCA c.408_409delinsCA (p.Cys136=)
2	g.222297035del	CA1139657712	PAX3	c.264del (p.Cys88Ter) n.645del c.408del (p.Cys136Ter)	ClinVar dbSNP
2	g.222297035G>A	CA431575912	PAX3	c.264C>T (p.Cys88=) n.645C>T c.408C>T (p.Cys136=)	dbSNP gnomAD v3 gnomAD v4
2	g.222297035G>C	CA351113468	PAX3	c.264C>G (p.Cys88Trp) n.645C>G c.408C>G (p.Cys136Trp)
2	g.222297035G=	CA1330546507	PAX3	c.264C= (p.Cys88=) n.645C= c.408C= (p.Cys136=)
2	g.222297035G>T	CA351113469	PAX3	c.264C>A (p.Cys88Ter) n.645C>A c.408C>A (p.Cys136Ter)
2	g.222297036C>A	CA351113470	PAX3	c.263G>T (p.Cys88Phe) n.644G>T c.407G>T (p.Cys136Phe)	gnomAD v4
2	g.222297036C>G	CA351113471	PAX3	c.263G>C (p.Cys88Ser) n.644G>C c.407G>C (p.Cys136Ser)
2	g.222297036C>T	CA351113472	PAX3	c.263G>A (p.Cys88Tyr) n.644G>A c.407G>A (p.Cys136Tyr)
2	g.222297037A>C	CA351113473	PAX3	c.262T>G (p.Cys88Gly) n.643T>G c.406T>G (p.Cys136Gly)	gnomAD v4
2	g.222297037A>G	CA351113474	PAX3	c.262T>C (p.Cys88Arg) n.643T>C c.406T>C (p.Cys136Arg)
2	g.222297037A>T	CA351113475	PAX3	c.262T>A (p.Cys88Ser) n.643T>A c.406T>A (p.Cys136Ser)
2	g.222297038C>A	CA431575913	PAX3	c.261G>T (p.Leu87=) n.642G>T c.405G>T (p.Leu135=)
2	g.222297038C=	CA1330546508	PAX3	c.261G= (p.Leu87=) n.642G= c.405G= (p.Leu135=)
2	g.222297038C>G	CA431575915	PAX3	c.261G>C (p.Leu87=) n.642G>C c.405G>C (p.Leu135=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.222297038C>T	CA431575914	PAX3	c.261G>A (p.Leu87=) n.642G>A c.405G>A (p.Leu135=)	dbSNP
2	g.222297039del	CA2586971545	PAX3	c.260del (p.Leu87ArgfsTer23) n.641del c.260del (p.Leu87ArgfsTer22) c.404del (p.Leu135ArgfsTer23)
2	g.222297039A>C	CA351113478	PAX3	c.260T>G (p.Leu87Arg) n.641T>G c.404T>G (p.Leu135Arg)
2	g.222297039A>G	CA351113477	PAX3	c.260T>C (p.Leu87Pro) n.641T>C c.404T>C (p.Leu135Pro)
2	g.222297039A>T	CA351113476	PAX3	c.260T>A (p.Leu87Gln) n.641T>A c.404T>A (p.Leu135Gln)
2	g.222297040G>A	CA431575916	PAX3	c.259C>T (p.Leu87=) n.640C>T c.403C>T (p.Leu135=)
2	g.222297040G>C	CA351113480	PAX3	c.259C>G (p.Leu87Val) n.640C>G c.403C>G (p.Leu135Val)
2	g.222297040G>T	CA351113479	PAX3	c.259C>A (p.Leu87Met) n.640C>A c.403C>A (p.Leu135Met)
2	g.222297041G>A	CA431575917	PAX3	c.258C>T (p.Ile86=) n.639C>T c.402C>T (p.Ile134=)
2	g.222297041G>C	CA351113481	PAX3	c.258C>G (p.Ile86Met) n.639C>G c.402C>G (p.Ile134Met)
2	g.222297041G>T	CA431575918	PAX3	c.258C>A (p.Ile86=) n.639C>A c.402C>A (p.Ile134=)
2	g.222297042A>C	CA351113482	PAX3	c.257T>G (p.Ile86Ser) n.638T>G c.401T>G (p.Ile134Ser)
2	g.222297042A>G	CA351113483	PAX3	c.257T>C (p.Ile86Thr) n.638T>C c.401T>C (p.Ile134Thr)
2	g.222297042A>T	CA351113484	PAX3	c.257T>A (p.Ile86Asn) n.638T>A c.401T>A (p.Ile134Asn)
2	g.222297043T>A	CA351113485	PAX3	c.256A>T (p.Ile86Phe) n.637A>T c.400A>T (p.Ile134Phe)	ClinVar dbSNP
2	g.222297043T>C	CA351113486	PAX3	c.256A>G (p.Ile86Val) n.637A>G c.400A>G (p.Ile134Val)
2	g.222297043T>G	CA351113487	PAX3	c.256A>C (p.Ile86Leu) n.637A>C c.400A>C (p.Ile134Leu)
2	g.222297043T=	CA1330546509	PAX3	c.256A= (p.Ile86=) n.637A= c.400A= (p.Ile134=)
2	g.222297044C>A	CA351113488	PAX3	c.255G>T (p.Lys85Asn) n.636G>T c.399G>T (p.Lys133Asn)
2	g.222297044C>G	CA351113489	PAX3	c.255G>C (p.Lys85Asn) n.636G>C c.399G>C (p.Lys133Asn)	ClinVar dbSNP
2	g.222297044C>T	CA431575919	PAX3	c.255G>A (p.Lys85=) n.636G>A c.399G>A (p.Lys133=)
2	g.222297045T>A	CA351113490	PAX3	c.254A>T (p.Lys85Met) n.635A>T c.398A>T (p.Lys133Met)
2	g.222297045T>C	CA351113491	PAX3	c.254A>G (p.Lys85Arg) n.635A>G c.398A>G (p.Lys133Arg)
2	g.222297045T>G	CA351113492	PAX3	c.254A>C (p.Lys85Thr) n.635A>C c.398A>C (p.Lys133Thr)
2	g.222297046T>A	CA351113495	PAX3	c.253A>T (p.Lys85Ter) n.634A>T c.397A>T (p.Lys133Ter)
2	g.222297046T>C	CA351113493	PAX3	c.253A>G (p.Lys85Glu) n.634A>G c.397A>G (p.Lys133Glu)
2	g.222297046T>G	CA351113494	PAX3	c.253A>C (p.Lys85Gln) n.634A>C c.397A>C (p.Lys133Gln)
2	g.222297047G>A	CA431575920	PAX3	c.252C>T (p.Ser84=) n.633C>T c.396C>T (p.Ser132=)	gnomAD v4
2	g.222297047G>C	CA431575921	PAX3	c.252C>G (p.Ser84=) n.633C>G c.396C>G (p.Ser132=)
2	g.222297047G>T	CA431575922	PAX3	c.252C>A (p.Ser84=) n.633C>A c.396C>A (p.Ser132=)
2	g.222297048G>A	CA116691	PAX3	c.251C>T (p.Ser84Phe) n.632C>T c.395C>T (p.Ser132Phe)	ClinVar dbSNP
2	g.222297048G>C	CA351113496	PAX3	c.251C>G (p.Ser84Cys) n.632C>G c.395C>G (p.Ser132Cys)
2	g.222297048G=	CA1330546510	PAX3	c.251C= (p.Ser84=) n.632C= c.395C= (p.Ser132=)
2	g.222297048G>T	CA351113497	PAX3	c.251C>A (p.Ser84Tyr) n.632C>A c.395C>A (p.Ser132Tyr)
2	g.222297049A>C	CA351113498	PAX3	c.250T>G (p.Ser84Ala) n.631T>G c.394T>G (p.Ser132Ala)
2	g.222297049A>G	CA351113499	PAX3	c.250T>C (p.Ser84Pro) n.631T>C c.394T>C (p.Ser132Pro)
2	g.222297049A>T	CA351113500	PAX3	c.250T>A (p.Ser84Thr) n.631T>A c.394T>A (p.Ser132Thr)
2	g.222297050G>A	CA431575923	PAX3	c.249C>T (p.Val83=) n.630C>T c.393C>T (p.Val131=)
2	g.222297050G>C	CA431575924	PAX3	c.249C>G (p.Val83=) n.630C>G c.393C>G (p.Val131=)
2	g.222297050G>T	CA431575925	PAX3	c.249C>A (p.Val83=) n.630C>A c.393C>A (p.Val131=)
2	g.222297051A>C	CA351113501	PAX3	c.248T>G (p.Val83Gly) n.629T>G c.392T>G (p.Val131Gly)
2	g.222297051A>G	CA351113502	PAX3	c.248T>C (p.Val83Ala) n.629T>C c.392T>C (p.Val131Ala)
2	g.222297051A>T	CA351113503	PAX3	c.248T>A (p.Val83Asp) n.629T>A c.392T>A (p.Val131Asp)
2	g.222297052C>A	CA351113504	PAX3	c.247G>T (p.Val83Phe) n.628G>T c.391G>T (p.Val131Phe)	dbSNP
2	g.222297052C=	CA1330546511	PAX3	c.247G= (p.Val83=) n.628G= c.391G= (p.Val131=)
2	g.222297052C>G	CA351113505	PAX3	c.247G>C (p.Val83Leu) n.628G>C c.391G>C (p.Val131Leu)
2	g.222297052C>T	CA351113506	PAX3	c.247G>A (p.Val83Ile) n.628G>A c.391G>A (p.Val131Ile)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2	g.222297053G>A	CA2135791	PAX3	c.246C>T (p.Cys82=) n.627C>T c.390C>T (p.Cys130=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.222297053G>C	CA351113508	PAX3	c.246C>G (p.Cys82Trp) n.627C>G c.390C>G (p.Cys130Trp)	ClinVar dbSNP
2	g.222297053G=	CA1330546512	PAX3	c.246C= (p.Cys82=) n.627C= c.390C= (p.Cys130=)
2	g.222297053G>T	CA351113507	PAX3	c.246C>A (p.Cys82Ter) n.627C>A c.390C>A (p.Cys130Ter)	ClinVar dbSNP
2	g.222297054C>A	CA351113509	PAX3	c.245G>T (p.Cys82Phe) n.626G>T c.389G>T (p.Cys130Phe)
2	g.222297054C>G	CA351113510	PAX3	c.245G>C (p.Cys82Ser) n.626G>C c.389G>C (p.Cys130Ser)
2	g.222297054C>T	CA351113511	PAX3	c.245G>A (p.Cys82Tyr) n.626G>A c.389G>A (p.Cys130Tyr)
2	g.222297055A>C	CA351113512	PAX3	c.244T>G (p.Cys82Gly) n.625T>G c.388T>G (p.Cys130Gly)
2	g.222297055A>G	CA351113513	PAX3	c.244T>C (p.Cys82Arg) n.625T>C c.388T>C (p.Cys130Arg)
2	g.222297055A>T	CA351113514	PAX3	c.244T>A (p.Cys82Ser) n.625T>A c.388T>A (p.Cys130Ser)
2	g.222297056G>A	CA431575926	PAX3	c.243C>T (p.Gly81=) n.624C>T c.387C>T (p.Gly129=)
2	g.222297056G>C	CA431575927	PAX3	c.243C>G (p.Gly81=) n.624C>G c.387C>G (p.Gly129=)
2	g.222297056G>T	CA431575928	PAX3	c.243C>A (p.Gly81=) n.624C>A c.387C>A (p.Gly129=)
2	g.222297057C>A	CA351113516	PAX3	c.242G>T (p.Gly81Val) n.623G>T c.386G>T (p.Gly129Val)
2	g.222297057C=	CA1330546513	PAX3	c.242G= (p.Gly81=) n.623G= c.386G= (p.Gly129=)
2	g.222297057C>G	CA253049	PAX3	c.242G>C (p.Gly81Ala) n.623G>C c.386G>C (p.Gly129Ala)	ClinVar dbSNP gnomAD v4
2	g.222297057C>T	CA351113515	PAX3	c.242G>A (p.Gly81Asp) n.623G>A c.386G>A (p.Gly129Asp)	ClinVar dbSNP
2	g.222297058C>A	CA269911	PAX3	c.241G>T (p.Gly81Cys) n.622G>T c.385G>T (p.Gly129Cys)	ClinVar dbSNP
2	g.222297058C=	CA1330546514	PAX3	c.241G= (p.Gly81=) n.622G= c.385G= (p.Gly129=)
2	g.222297058C>G	CA2135792	PAX3	c.241G>C (p.Gly81Arg) n.622G>C c.385G>C (p.Gly129Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.222297058C>T	CA351113517	PAX3	c.241G>A (p.Gly81Ser) n.622G>A c.385G>A (p.Gly129Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.222297059G>A	CA431575929	PAX3	c.240C>T (p.His80=) n.621C>T c.384C>T (p.His128=)	dbSNP gnomAD v4
2	g.222297059G>C	CA351113518	PAX3	c.240C>G (p.His80Gln) n.621C>G c.384C>G (p.His128Gln)
2	g.222297059G=	CA1330546515	PAX3	c.240C= (p.His80=) n.621C= c.384C= (p.His128=)
2	g.222297059G>T	CA351113519	PAX3	c.240C>A (p.His80Gln) n.621C>A c.384C>A (p.His128Gln)
2	g.222297060T>A	CA351113522	PAX3	c.239A>T (p.His80Leu) n.620A>T c.383A>T (p.His128Leu)
2	g.222297060T>C	CA351113520	PAX3	c.239A>G (p.His80Arg) n.620A>G c.383A>G (p.His128Arg)	ClinVar dbSNP
2	g.222297060T>G	CA351113521	PAX3	c.239A>C (p.His80Pro) n.620A>C c.383A>C (p.His128Pro)
2	g.222297060T=	CA1330546516	PAX3	c.239A= (p.His80=) n.620A= c.383A= (p.His128=)
2	g.222297061G>A	CA351113523	PAX3	c.238C>T (p.His80Tyr) n.619C>T c.382C>T (p.His128Tyr)	ClinVar
2	g.222297061G>C	CA259837	PAX3	c.238C>G (p.His80Asp) n.619C>G c.382C>G (p.His128Asp)	ClinVar dbSNP
2	g.222297061G=	CA1330546517	PAX3	c.238C= (p.His80=) n.619C= c.382C= (p.His128=)
2	g.222297061G>T	CA351113524	PAX3	c.238C>A (p.His80Asn) n.619C>A c.382C>A (p.His128Asn)
2	g.222297062G>A	CA431575930	PAX3	c.237C>T (p.Ser79=) n.618C>T c.381C>T (p.Ser127=)
2	g.222297062G>C	CA431575931	PAX3	c.237C>G (p.Ser79=) n.618C>G c.381C>G (p.Ser127=)
2	g.222297062G>T	CA431575932	PAX3	c.237C>A (p.Ser79=) n.618C>A c.381C>A (p.Ser127=)
2	g.222297063G>A	CA351113525	PAX3	c.236C>T (p.Ser79Phe) n.617C>T c.380C>T (p.Ser127Phe)
2	g.222297063G>C	CA351113526	PAX3	c.236C>G (p.Ser79Cys) n.617C>G c.380C>G (p.Ser127Cys)
2	g.222297063G>T	CA351113527	PAX3	c.236C>A (p.Ser79Tyr) n.617C>A c.380C>A (p.Ser127Tyr)
2	g.222297064A>C	CA351113528	PAX3	c.235T>G (p.Ser79Ala) n.616T>G c.379T>G (p.Ser127Ala)
2	g.222297064A>G	CA351113529	PAX3	c.235T>C (p.Ser79Pro) n.616T>C c.379T>C (p.Ser127Pro)
2	g.222297064A>T	CA351113530	PAX3	c.235T>A (p.Ser79Thr) n.616T>A c.379T>A (p.Ser127Thr)
2	g.222297065C>A	CA431575933	PAX3	c.234G>T (p.Val78=) n.615G>T c.378G>T (p.Val126=)
2	g.222297065C=	CA1330546518	PAX3	c.234G= (p.Val78=) n.615G= c.378G= (p.Val126=)
2	g.222297065C>G	CA431575934	PAX3	c.234G>C (p.Val78=) n.615G>C c.378G>C (p.Val126=)
2	g.222297065C>T	CA431575935	PAX3	c.234G>A (p.Val78=) n.615G>A c.378G>A (p.Val126=)	dbSNP gnomAD v2 gnomAD v4
2	g.222297066A>C	CA351113531	PAX3	c.233T>G (p.Val78Gly) n.614T>G c.377T>G (p.Val126Gly)
2	g.222297066A>G	CA351113532	PAX3	c.233T>C (p.Val78Ala) n.614T>C c.377T>C (p.Val126Ala)
2	g.222297066A>T	CA351113533	PAX3	c.233T>A (p.Val78Glu) n.614T>A c.377T>A (p.Val126Glu)	ClinVar dbSNP
2	g.222297067C>A	CA351113534	PAX3	c.232G>T (p.Val78Leu) n.613G>T c.376G>T (p.Val126Leu)	ClinVar dbSNP
2	g.222297067C=	CA1330546519	PAX3	c.232G= (p.Val78=) n.613G= c.376G= (p.Val126=)
2	g.222297067C>G	CA351113536	PAX3	c.232G>C (p.Val78Leu) n.613G>C c.376G>C (p.Val126Leu)
2	g.222297067C>T	CA351113535	PAX3	c.232G>A (p.Val78Met) n.613G>A c.376G>A (p.Val126Met)
2	g.222297068G>A	CA431575936	PAX3	c.231C>T (p.Arg77=) n.612C>T c.375C>T (p.Arg125=)
2	g.222297068G>C	CA431575937	PAX3	c.231C>G (p.Arg77=) n.612C>G c.375C>G (p.Arg125=)	COSMIC COSMIC COSMIC COSMIC
2	g.222297068G=	CA1330546520	PAX3	c.231C= (p.Arg77=) n.612C= c.375C= (p.Arg125=)
2	g.222297068G>T	CA2135793	PAX3	c.231C>A (p.Arg77=) n.612C>A c.375C>A (p.Arg125=)	dbSNP ExAC gnomAD v2
2	g.222297069C>A	CA351113537	PAX3	c.230G>T (p.Arg77Leu) n.611G>T c.374G>T (p.Arg125Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.222297069C=	CA1330546521	PAX3	c.230G= (p.Arg77=) n.611G= c.374G= (p.Arg125=)
2	g.222297069C>G	CA351113538	PAX3	c.230G>C (p.Arg77Pro) n.611G>C c.374G>C (p.Arg125Pro)
2	g.222297069C>T	CA351113539	PAX3	c.230G>A (p.Arg77His) n.611G>A c.374G>A (p.Arg125His)	COSMIC COSMIC COSMIC COSMIC
2	g.222297070G>A	CA351113540	PAX3	c.229C>T (p.Arg77Cys) n.610C>T c.373C>T (p.Arg125Cys)	gnomAD v4
2	g.222297070G>C	CA351113541	PAX3	c.229C>G (p.Arg77Gly) n.610C>G c.373C>G (p.Arg125Gly)
2	g.222297070G>T	CA351113542	PAX3	c.229C>A (p.Arg77Ser) n.610C>A c.373C>A (p.Arg125Ser)
2	g.222297071C>A	CA431575938	PAX3	c.228G>T (p.Leu76=) n.609G>T c.372G>T (p.Leu124=)
2	g.222297071C>G	CA431575939	PAX3	c.228G>C (p.Leu76=) n.609G>C c.372G>C (p.Leu124=)
2	g.222297071C>T	CA431575940	PAX3	c.228G>A (p.Leu76=) n.609G>A c.372G>A (p.Leu124=)
2	g.222297072A=	CA1330546522	PAX3	c.227T= (p.Leu76=) n.608T= c.371T= (p.Leu124=)
2	g.222297072A>C	CA351113543	PAX3	c.227T>G (p.Leu76Arg) n.608T>G c.371T>G (p.Leu124Arg)	ClinVar dbSNP
2	g.222297072A>G	CA351113544	PAX3	c.227T>C (p.Leu76Pro) n.608T>C c.371T>C (p.Leu124Pro)
2	g.222297072A>T	CA351113545	PAX3	c.227T>A (p.Leu76Gln) n.608T>A c.371T>A (p.Leu124Gln)
2	g.222297073G>A	CA431575941	PAX3	c.226C>T (p.Leu76=) n.607C>T c.370C>T (p.Leu124=)
2	g.222297073G>C	CA351113546	PAX3	c.226C>G (p.Leu76Val) n.607C>G c.370C>G (p.Leu124Val)
2	g.222297073G>T	CA351113547	PAX3	c.226C>A (p.Leu76Met) n.607C>A c.370C>A (p.Leu124Met)
2	g.222297074C>A	CA351113549	PAX3	c.225G>T (p.Gln75His) n.606G>T c.369G>T (p.Gln123His)	gnomAD v4
2	g.222297074C>G	CA351113548	PAX3	c.225G>C (p.Gln75His) n.606G>C c.369G>C (p.Gln123His)	gnomAD v4
2	g.222297074C>T	CA431575942	PAX3	c.225G>A (p.Gln75=) n.606G>A c.369G>A (p.Gln123=)
2	g.222297075T>A	CA351113550	PAX3	c.224A>T (p.Gln75Leu) n.605A>T c.368A>T (p.Gln123Leu)
2	g.222297075T>C	CA351113551	PAX3	c.224A>G (p.Gln75Arg) n.605A>G c.368A>G (p.Gln123Arg)
2	g.222297075T>G	CA351113552	PAX3	c.224A>C (p.Gln75Pro) n.605A>C c.368A>C (p.Gln123Pro)
2	g.222297076G>A	CA351113553	PAX3	c.223C>T (p.Gln75Ter) n.604C>T c.367C>T (p.Gln123Ter)
2	g.222297076G>C	CA351113554	PAX3	c.223C>G (p.Gln75Glu) n.604C>G c.367C>G (p.Gln123Glu)
2	g.222297076G>T	CA351113555	PAX3	c.223C>A (p.Gln75Lys) n.604C>A c.367C>A (p.Gln123Lys)
2	g.222297077G>A	CA431575943	PAX3	c.222C>T (p.Arg74=) n.603C>T c.366C>T (p.Arg122=)
2	g.222297077G>C	CA431575944	PAX3	c.222C>G (p.Arg74=) n.603C>G c.366C>G (p.Arg122=)
2	g.222297077G>T	CA431575945	PAX3	c.222C>A (p.Arg74=) n.603C>A c.366C>A (p.Arg122=)
2	g.222297078C>A	CA351113556	PAX3	c.221G>T (p.Arg74Leu) n.602G>T c.365G>T (p.Arg122Leu)
2	g.222297078C>G	CA351113557	PAX3	c.221G>C (p.Arg74Pro) n.602G>C c.365G>C (p.Arg122Pro)
2	g.222297078C>T	CA351113558	PAX3	c.221G>A (p.Arg74His) n.602G>A c.365G>A (p.Arg122His)
2	g.222297079G>A	CA351113559	PAX3	c.220C>T (p.Arg74Cys) n.601C>T c.364C>T (p.Arg122Cys)
2	g.222297079G>C	CA351113560	PAX3	c.220C>G (p.Arg74Gly) n.601C>G c.364C>G (p.Arg122Gly)
2	g.222297079G>T	CA351113561	PAX3	c.220C>A (p.Arg74Ser) n.601C>A c.364C>A (p.Arg122Ser)
2	g.222297080C>A	CA431575946	PAX3	c.219G>T (p.Ser73=) n.600G>T c.363G>T (p.Ser121=)	dbSNP gnomAD v4
2	g.222297080C=	CA1330546523	PAX3	c.219G= (p.Ser73=) n.600G= c.363G= (p.Ser121=)
2	g.222297080C>G	CA431575947	PAX3	c.219G>C (p.Ser73=) n.600G>C c.363G>C (p.Ser121=)
2	g.222297080C>T	CA431575948	PAX3	c.219G>A (p.Ser73=) n.600G>A c.363G>A (p.Ser121=)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2	g.222297081G>A	CA351113563	PAX3	c.218C>T (p.Ser73Leu) n.599C>T c.362C>T (p.Ser121Leu)	ClinVar dbSNP
2	g.222297081G>C	CA351113564	PAX3	c.218C>G (p.Ser73Trp) n.599C>G c.362C>G (p.Ser121Trp)	ClinVar
2	g.222297081G=	CA1330546524	PAX3	c.218C= (p.Ser73=) n.599C= c.362C= (p.Ser121=)
2	g.222297081G>T	CA351113562	PAX3	c.218C>A (p.Ser73Ter) n.599C>A c.362C>A (p.Ser121Ter)
2	g.222297082A>C	CA351113565	PAX3	c.217T>G (p.Ser73Ala) n.598T>G c.361T>G (p.Ser121Ala)
2	g.222297082A>G	CA351113566	PAX3	c.217T>C (p.Ser73Pro) n.598T>C c.361T>C (p.Ser121Pro)
2	g.222297082A>T	CA351113567	PAX3	c.217T>A (p.Ser73Thr) n.598T>A c.361T>A (p.Ser121Thr)
2	g.222297083G>A	CA431575949	PAX3	c.216C>T (p.Ile72=) n.597C>T c.360C>T (p.Ile120=)
2	g.222297083G>C	CA351113568	PAX3	c.216C>G (p.Ile72Met) n.597C>G c.360C>G (p.Ile120Met)
2	g.222297083G>T	CA431575950	PAX3	c.216C>A (p.Ile72=) n.597C>A c.360C>A (p.Ile120=)
2	g.222297084A=	CA1330546525	PAX3	c.215T= (p.Ile72=) n.596T= c.359T= (p.Ile120=)
2	g.222297084A>C	CA351113569	PAX3	c.215T>G (p.Ile72Ser) n.596T>G c.359T>G (p.Ile120Ser)
2	g.222297084A>G	CA351113570	PAX3	c.215T>C (p.Ile72Thr) n.596T>C c.359T>C (p.Ile120Thr)	ClinVar dbSNP
2	g.222297084A>T	CA351113571	PAX3	c.215T>A (p.Ile72Asn) n.596T>A c.359T>A (p.Ile120Asn)
2	g.222297085T>A	CA351113572	PAX3	c.214A>T (p.Ile72Phe) n.595A>T c.358A>T (p.Ile120Phe)
2	g.222297085T>C	CA351113573	PAX3	c.214A>G (p.Ile72Val) n.595A>G c.358A>G (p.Ile120Val)
2	g.222297085T>G	CA351113574	PAX3	c.214A>C (p.Ile72Leu) n.595A>C c.358A>C (p.Ile120Leu)
2	g.222297086G>A	CA431575951	PAX3	c.213C>T (p.Val71=) n.594C>T c.357C>T (p.Val119=)
2	g.222297086G>C	CA431575952	PAX3	c.213C>G (p.Val71=) n.594C>G c.357C>G (p.Val119=)
2	g.222297086G=	CA1330546526	PAX3	c.213C= (p.Val71=) n.594C= c.357C= (p.Val119=)
2	g.222297086G>T	CA431575953	PAX3	c.213C>A (p.Val71=) n.594C>A c.357C>A (p.Val119=)	dbSNP gnomAD v3 gnomAD v4
2	g.222297087A=	CA1330546527	PAX3	c.212T= (p.Val71=) n.593T= c.356T= (p.Val119=)
2	g.222297087A>C	CA351113575	PAX3	c.212T>G (p.Val71Gly) n.593T>G c.356T>G (p.Val119Gly)	dbSNP
2	g.222297087A>G	CA351113576	PAX3	c.212T>C (p.Val71Ala) n.593T>C c.356T>C (p.Val119Ala)
2	g.222297087A>T	CA351113577	PAX3	c.212T>A (p.Val71Asp) n.593T>A c.356T>A (p.Val119Asp)
2	g.222297088C>A	CA66340692	PAX3	c.211G>T (p.Val71Phe) n.592G>T c.355G>T (p.Val119Phe)	dbSNP gnomAD v4
2	g.222297088C=	CA1330546528	PAX3	c.211G= (p.Val71=) n.592G= c.355G= (p.Val119=)
2	g.222297088C>G	CA351113579	PAX3	c.211G>C (p.Val71Leu) n.592G>C c.355G>C (p.Val119Leu)
2	g.222297088C>T	CA351113578	PAX3	c.211G>A (p.Val71Ile) n.592G>A c.355G>A (p.Val119Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2	g.222297089G>A	CA431575954	PAX3	c.210C>T (p.Cys70=) n.591C>T c.354C>T (p.Cys118=)	dbSNP gnomAD v2 gnomAD v4
2	g.222297089G>C	CA351113580	PAX3	c.210C>G (p.Cys70Trp) n.591C>G c.354C>G (p.Cys118Trp)
2	g.222297089G=	CA1330546529	PAX3	c.210C= (p.Cys70=) n.591C= c.354C= (p.Cys118=)
2	g.222297089G>T	CA351113581	PAX3	c.210C>A (p.Cys70Ter) n.591C>A c.354C>A (p.Cys118Ter)	ClinVar dbSNP
2	g.222297090C>A	CA351113582	PAX3	c.209G>T (p.Cys70Phe) n.590G>T c.353G>T (p.Cys118Phe)
2	g.222297090C>G	CA351113583	PAX3	c.209G>C (p.Cys70Ser) n.590G>C c.353G>C (p.Cys118Ser)
2	g.222297090C>T	CA351113584	PAX3	c.209G>A (p.Cys70Tyr) n.590G>A c.353G>A (p.Cys118Tyr)
2	g.222297091A>C	CA351113585	PAX3	c.208T>G (p.Cys70Gly) n.589T>G c.352T>G (p.Cys118Gly)
2	g.222297091A>G	CA351113586	PAX3	c.208T>C (p.Cys70Arg) n.589T>C c.352T>C (p.Cys118Arg)
2	g.222297091A>T	CA351113587	PAX3	c.208T>A (p.Cys70Ser) n.589T>A c.352T>A (p.Cys118Ser)
2	g.222297092G>A	CA2135794	PAX3	c.207C>T (p.Pro69=) n.588C>T c.351C>T (p.Pro117=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.222297092G>C	CA431575955	PAX3	c.207C>G (p.Pro69=) n.588C>G c.351C>G (p.Pro117=)	gnomAD v4
2	g.222297092G=	CA1330546530	PAX3	c.207C= (p.Pro69=) n.588C= c.351C= (p.Pro117=)
2	g.222297092G>T	CA431575956	PAX3	c.207C>A (p.Pro69=) n.588C>A c.351C>A (p.Pro117=)
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=)

Number of alleles fetched