Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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.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)

Number of alleles fetched