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.240877559_240877572dup	CA2664011206	AGXT	c.869_882dup (p.Ala295SerfsTer22) n.647_660dup	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
2	g.240877569G>C	CA351319151	AGXT	c.879G>C (p.Glu293Asp) n.657G>C
2	g.240877569G>T	CA351319153	AGXT	c.879G>T (p.Glu293Asp) n.657G>T	gnomAD v4
2	g.240877570G>A	CA351319155	AGXT	c.880G>A (p.Ala294Thr) n.658G>A	gnomAD v4
2	g.240877570G>C	CA351319159	AGXT	c.880G>C (p.Ala294Pro) n.658G>C
2	g.240877570G>T	CA351319157	AGXT	c.880G>T (p.Ala294Ser) n.658G>T	gnomAD v4
2	g.240877571C>A	CA351319161	AGXT	c.881C>A (p.Ala294Asp) n.659C>A	gnomAD v4
2	g.240877571C=	CA1339335517	AGXT	c.881C= (p.Ala294=) n.659C=
2	g.240877571C>G	CA351319163	AGXT	c.881C>G (p.Ala294Gly) n.659C>G
2	g.240877571C>T	CA351319165	AGXT	c.881C>T (p.Ala294Val) n.659C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240877572C>A	CA432025402	AGXT	c.882C>A (p.Ala294=) n.660C>A
2	g.240877572C=	CA1339335518	AGXT	c.882C= (p.Ala294=) n.660C=
2	g.240877572C>G	CA432025403	AGXT	c.882C>G (p.Ala294=) n.660C>G
2	g.240877572C>T	CA68180601	AGXT	c.882C>T (p.Ala294=) n.660C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877572_240877575delinsCGCG	CA1339335519	AGXT	c.882_885delinsCGCG (p.Ala294=) n.660_663delinsCGCG
2	g.240877573G>A	CA275599	AGXT	c.883G>A (p.Ala295Thr) n.661G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877573G>C	CA351319172	AGXT	c.883G>C (p.Ala295Pro) n.661G>C
2	g.240877573G=	CA1339335520	AGXT	c.883G= (p.Ala295=) n.661G=
2	g.240877573G>T	CA351319170	AGXT	c.883G>T (p.Ala295Ser) n.661G>T	dbSNP gnomAD v4
2	g.240877576_240877578del	CA275858	AGXT	c.886_888del (p.Ala296del) n.664_666del	ClinVar dbSNP
2	g.240877574C>A	CA351319174	AGXT	c.884C>A (p.Ala295Glu) n.662C>A	gnomAD v4
2	g.240877574C=	CA1339335521	AGXT	c.884C= (p.Ala295=) n.662C=
2	g.240877574C>G	CA351319176	AGXT	c.884C>G (p.Ala295Gly) n.662C>G
2	g.240877574C>T	CA68180610	AGXT	c.884C>T (p.Ala295Val) n.662C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877575G>A	CA2209330	AGXT	c.885G>A (p.Ala295=) n.663G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240877575G>C	CA432025412	AGXT	c.885G>C (p.Ala295=) n.663G>C
2	g.240877575G=	CA1339335522	AGXT	c.885G= (p.Ala295=) n.663G=
2	g.240877575G>T	CA432025414	AGXT	c.885G>T (p.Ala295=) n.663G>T	gnomAD v4

Number of alleles fetched