Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240876650_240877771del	CA275856	AGXT	c.846+646_942+139del	ClinVar
2	g.240877556_240877571del	CA2577302731	AGXT	c.866_881del (p.Arg289ProfsTer18) n.644_659del
2	g.240877556G>A	CA247930	AGXT	c.866G>A (p.Arg289His) n.644G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240877556G>C	CA351319101	AGXT	c.866G>C (p.Arg289Pro) n.644G>C	dbSNP
2	g.240877556G=	CA1339335510	AGXT	c.866G= (p.Arg289=) n.644G=
2	g.240877556G>T	CA351319102	AGXT	c.866G>T (p.Arg289Leu) n.644G>T
2	g.240877559_240877572dup	CA2664011206	AGXT	c.869_882dup (p.Ala295SerfsTer22) n.647_660dup	gnomAD v4
2	g.240877557C>A	CA432025345	AGXT	c.867C>A (p.Arg289=) n.645C>A
2	g.240877557C>G	CA432025346	AGXT	c.867C>G (p.Arg289=) n.645C>G
2	g.240877557C>T	CA432025343	AGXT	c.867C>T (p.Arg289=) n.645C>T	gnomAD v4
2	g.240877558C>A	CA351319103	AGXT	c.868C>A (p.Gln290Lys) n.646C>A	gnomAD v4
2	g.240877558C>G	CA351319104	AGXT	c.868C>G (p.Gln290Glu) n.646C>G
2	g.240877558C>T	CA351319105	AGXT	c.868C>T (p.Gln290Ter) n.646C>T	gnomAD v4
2	g.240877559A=	CA1339335511	AGXT	c.869A= (p.Gln290=) n.647A=
2	g.240877559A>C	CA351319106	AGXT	c.869A>C (p.Gln290Pro) n.647A>C	dbSNP gnomAD v2 gnomAD v4
2	g.240877559A>G	CA351319107	AGXT	c.869A>G (p.Gln290Arg) n.647A>G
2	g.240877559A>T	CA351319108	AGXT	c.869A>T (p.Gln290Leu) n.647A>T
2	g.240877560G>A	CA432025361	AGXT	c.870G>A (p.Gln290=) n.648G>A	gnomAD v4
2	g.240877560G>C	CA351319109	AGXT	c.870G>C (p.Gln290His) n.648G>C
2	g.240877560G>T	CA351319110	AGXT	c.870G>T (p.Gln290His) n.648G>T	gnomAD v4
2	g.240877561C>A	CA351319113	AGXT	c.871C>A (p.His291Asn) n.649C>A	gnomAD v4
2	g.240877561C>G	CA351319111	AGXT	c.871C>G (p.His291Asp) n.649C>G
2	g.240877561C>T	CA351319112	AGXT	c.871C>T (p.His291Tyr) n.649C>T
2	g.240877562A>C	CA351319114	AGXT	c.872A>C (p.His291Pro) n.650A>C
2	g.240877562A>G	CA351319115	AGXT	c.872A>G (p.His291Arg) n.650A>G
2	g.240877562A>T	CA351319116	AGXT	c.872A>T (p.His291Leu) n.650A>T
2	g.240877563C>A	CA351319117	AGXT	c.873C>A (p.His291Gln) n.651C>A
2	g.240877563C=	CA1339335512	AGXT	c.873C= (p.His291=) n.651C=
2	g.240877563C>G	CA351319119	AGXT	c.873C>G (p.His291Gln) n.651C>G
2	g.240877563C>T	CA2209326	AGXT	c.873C>T (p.His291=) n.651C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877564C>A	CA351319121	AGXT	c.874C>A (p.Arg292Ser) n.652C>A	gnomAD v4
2	g.240877564C=	CA1339335513	AGXT	c.874C= (p.Arg292=) n.652C=
2	g.240877564C>G	CA351319128	AGXT	c.874C>G (p.Arg292Gly) n.652C>G
2	g.240877564C>T	CA351319131	AGXT	c.874C>T (p.Arg292Cys) n.652C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877565G>A	CA68180593	AGXT	c.875G>A (p.Arg292His) n.653G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877565G>C	CA351319134	AGXT	c.875G>C (p.Arg292Pro) n.653G>C	gnomAD v4
2	g.240877565G=	CA1339335514	AGXT	c.875G= (p.Arg292=) n.653G=
2	g.240877565G>T	CA351319136	AGXT	c.875G>T (p.Arg292Leu) n.653G>T	gnomAD v4
2	g.240877566C>A	CA2209327	AGXT	c.876C>A (p.Arg292=) n.654C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877566C=	CA1339335515	AGXT	c.876C= (p.Arg292=) n.654C=
2	g.240877566C>G	CA432025377	AGXT	c.876C>G (p.Arg292=) n.654C>G	ClinVar dbSNP gnomAD v4
2	g.240877566C>T	CA2209328	AGXT	c.876C>T (p.Arg292=) n.654C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240877567G>A	CA2209329	AGXT	c.877G>A (p.Glu293Lys) n.655G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877567G>C	CA68180598	AGXT	c.877G>C (p.Glu293Gln) n.655G>C	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.240877567G=	CA1339335516	AGXT	c.877G= (p.Glu293=) n.655G=
2	g.240877567G>T	CA351319143	AGXT	c.877G>T (p.Glu293Ter) n.655G>T	gnomAD v4
2	g.240877568A>C	CA351319147	AGXT	c.878A>C (p.Glu293Ala) n.656A>C
2	g.240877568A>G	CA351319148	AGXT	c.878A>G (p.Glu293Gly) n.656A>G
2	g.240877568A>T	CA351319150	AGXT	c.878A>T (p.Glu293Val) n.656A>T
2	g.240877569G>A	CA432025393	AGXT	c.879G>A (p.Glu293=) n.657G>A	ClinVar

Number of alleles fetched