Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240878060C>A	CA432026222	AGXT	c.981C>A (p.Pro327=) n.759C>A	gnomAD v4
2	g.240878060C=	CA1339335769	AGXT	c.981C= (p.Pro327=) n.759C=
2	g.240878060C>G	CA432026224	AGXT	c.981C>G (p.Pro327=) n.759C>G
2	g.240878060C>T	CA2209366	AGXT	c.981C>T (p.Pro327=) n.759C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878061G>A	CA2209367	AGXT	c.982G>A (p.Ala328Thr) n.760G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878061G>C	CA351319528	AGXT	c.982G>C (p.Ala328Pro) n.760G>C	dbSNP
2	g.240878061G=	CA1339335771	AGXT	c.982G= (p.Ala328=) n.760G=
2	g.240878061G>T	CA351319527	AGXT	c.982G>T (p.Ala328Ser) n.760G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878061_240878067delinsGCTGGCT	CA1339335770	AGXT	c.982_988delinsGCTGGCT (p.Ala328=) n.760_766delinsGCTGGCT
2	g.240878062C>A	CA351319529	AGXT	c.983C>A (p.Ala328Asp) n.761C>A
2	g.240878062C>G	CA351319530	AGXT	c.983C>G (p.Ala328Gly) n.761C>G
2	g.240878062C>T	CA351319531	AGXT	c.983C>T (p.Ala328Val) n.761C>T
2	g.240878062dup	CA2580068044	AGXT	c.983dup (p.Gly329TrpfsTer3) n.761dup	ClinVar
2	g.240878062_240878067del	CA275863	AGXT	c.983_988del (p.Ala328_Tyr330delinsAsp) n.761_766del	ClinVar dbSNP
2	g.240878063T>A	CA432026227	AGXT	c.984T>A (p.Ala328=) n.762T>A
2	g.240878063T>C	CA432026229	AGXT	c.984T>C (p.Ala328=) n.762T>C	ClinVar
2	g.240878063T>G	CA432026231	AGXT	c.984T>G (p.Ala328=) n.762T>G	ClinVar dbSNP gnomAD v4
2	g.240878063T=	CA1339335772	AGXT	c.984T= (p.Ala328=) n.762T=
2	g.240878064G>A	CA2209368	AGXT	c.985G>A (p.Gly329Ser) n.763G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878064G>C	CA351319532	AGXT	c.985G>C (p.Gly329Arg) n.763G>C
2	g.240878064G=	CA1339335773	AGXT	c.985G= (p.Gly329=) n.763G=
2	g.240878064G>T	CA351319533	AGXT	c.985G>T (p.Gly329Cys) n.763G>T
2	g.240878065G>A	CA351319534	AGXT	c.986G>A (p.Gly329Asp) n.764G>A
2	g.240878065G>C	CA351319535	AGXT	c.986G>C (p.Gly329Ala) n.764G>C
2	g.240878065G>T	CA351319536	AGXT	c.986G>T (p.Gly329Val) n.764G>T
2	g.240878066C>A	CA432026240	AGXT	c.987C>A (p.Gly329=) n.765C>A
2	g.240878066C=	CA1339335774	AGXT	c.987C= (p.Gly329=) n.765C=
2	g.240878066C>G	CA68180834	AGXT	c.987C>G (p.Gly329=) n.765C>G	dbSNP
2	g.240878066C>T	CA2209369	AGXT	c.987C>T (p.Gly329=) n.765C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878067T>A	CA351319539	AGXT	c.988T>A (p.Tyr330Asn) n.766T>A
2	g.240878067T>C	CA351319537	AGXT	c.988T>C (p.Tyr330His) n.766T>C
2	g.240878067T>G	CA351319538	AGXT	c.988T>G (p.Tyr330Asp) n.766T>G
2	g.240878068A=	CA1339335775	AGXT	c.989A= (p.Tyr330=) n.767A=
2	g.240878068A>C	CA351319540	AGXT	c.989A>C (p.Tyr330Ser) n.767A>C
2	g.240878068A>G	CA351319541	AGXT	c.989A>G (p.Tyr330Cys) n.767A>G	dbSNP gnomAD v3 gnomAD v4
2	g.240878068A>T	CA351319542	AGXT	c.989A>T (p.Tyr330Phe) n.767A>T
2	g.240878069T>A	CA351319543	AGXT	c.990T>A (p.Tyr330Ter) n.768T>A
2	g.240878069T>C	CA432026243	AGXT	c.990T>C (p.Tyr330=) n.768T>C	dbSNP gnomAD v3 gnomAD v4
2	g.240878069T>G	CA68180837	AGXT	c.990T>G (p.Tyr330Ter) n.768T>G	dbSNP
2	g.240878069T=	CA1339335776	AGXT	c.990T= (p.Tyr330=) n.768T=
2	g.240878070G>A	CA351319544	AGXT	c.991G>A (p.Asp331Asn) n.769G>A
2	g.240878070G>C	CA351319546	AGXT	c.991G>C (p.Asp331His) n.769G>C
2	g.240878070G>T	CA351319545	AGXT	c.991G>T (p.Asp331Tyr) n.769G>T	gnomAD v4
2	g.240878071A>C	CA351319547	AGXT	c.992A>C (p.Asp331Ala) n.770A>C
2	g.240878071A>G	CA351319548	AGXT	c.992A>G (p.Asp331Gly) n.770A>G
2	g.240878071A>T	CA351319549	AGXT	c.992A>T (p.Asp331Val) n.770A>T
2	g.240878072C>A	CA351319550	AGXT	c.993C>A (p.Asp331Glu) n.771C>A
2	g.240878072C>G	CA351319551	AGXT	c.993C>G (p.Asp331Glu) n.771C>G
2	g.240878072C>T	CA432026256	AGXT	c.993C>T (p.Asp331=) n.771C>T	gnomAD v4
2	g.240878073T>A	CA351319552	AGXT	c.994T>A (p.Trp332Arg) n.772T>A

Number of alleles fetched