Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240878798C>A	CA351319872	AGXT	c.1156C>A (p.His386Asn) n.934C>A	dbSNP gnomAD v2 gnomAD v4
2	g.240878798C=	CA1339336173	AGXT	c.1156C= (p.His386=) n.934C=
2	g.240878798C>G	CA351319873	AGXT	c.1156C>G (p.His386Asp) n.934C>G
2	g.240878798C>T	CA351319874	AGXT	c.1156C>T (p.His386Tyr) n.934C>T	gnomAD v4
2	g.240878799del	CA2586971638	AGXT	c.1157del (p.His386ProfsTer?) n.935del
2	g.240878799A>C	CA351319875	AGXT	c.1157A>C (p.His386Pro) n.935A>C
2	g.240878799A>G	CA351319876	AGXT	c.1157A>G (p.His386Arg) n.935A>G	gnomAD v4
2	g.240878799A>T	CA351319877	AGXT	c.1157A>T (p.His386Leu) n.935A>T
2	g.240878800C>A	CA351319878	AGXT	c.1158C>A (p.His386Gln) n.936C>A	gnomAD v4
2	g.240878800C>G	CA351319879	AGXT	c.1158C>G (p.His386Gln) n.936C>G
2	g.240878800C>T	CA432027224	AGXT	c.1158C>T (p.His386=) n.936C>T	gnomAD v4
2	g.240878801T>A	CA351319880	AGXT	c.1159T>A (p.Cys387Ser) n.937T>A
2	g.240878801T>C	CA351319881	AGXT	c.1159T>C (p.Cys387Arg) n.937T>C
2	g.240878801T>G	CA351319882	AGXT	c.1159T>G (p.Cys387Gly) n.937T>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878801T=	CA1339336174	AGXT	c.1159T= (p.Cys387=) n.937T=
2	g.240878802G>A	CA351319884	AGXT	c.1160G>A (p.Cys387Tyr) n.938G>A	gnomAD v4
2	g.240878802G>C	CA351319885	AGXT	c.1160G>C (p.Cys387Ser) n.938G>C
2	g.240878802G>T	CA351319883	AGXT	c.1160G>T (p.Cys387Phe) n.938G>T	gnomAD v4
2	g.240878803C>A	CA351319886	AGXT	c.1161C>A (p.Cys387Ter) n.939C>A	ClinVar gnomAD v4
2	g.240878803C>G	CA351319887	AGXT	c.1161C>G (p.Cys387Trp) n.939C>G
2	g.240878803C>T	CA432027236	AGXT	c.1161C>T (p.Cys387=) n.939C>T	gnomAD v4
2	g.240878806del	CA2664012541	AGXT	c.1164del (p.Lys389ArgfsTer?) n.942del	gnomAD v4
2	g.240878804C>A	CA351319888	AGXT	c.1162C>A (p.Pro388Thr) n.940C>A	gnomAD v4
2	g.240878804C>G	CA351319889	AGXT	c.1162C>G (p.Pro388Ala) n.940C>G
2	g.240878804C>T	CA351319890	AGXT	c.1162C>T (p.Pro388Ser) n.940C>T	gnomAD v4
2	g.240878805C>A	CA351319891	AGXT	c.1163C>A (p.Pro388His) n.941C>A	gnomAD v4
2	g.240878805C>G	CA351319892	AGXT	c.1163C>G (p.Pro388Arg) n.941C>G
2	g.240878805C>T	CA351319893	AGXT	c.1163C>T (p.Pro388Leu) n.941C>T
2	g.240878806C>A	CA432027243	AGXT	c.1164C>A (p.Pro388=) n.942C>A	gnomAD v4
2	g.240878806C=	CA1339336175	AGXT	c.1164C= (p.Pro388=) n.942C=
2	g.240878806C>G	CA432027245	AGXT	c.1164C>G (p.Pro388=) n.942C>G	gnomAD v4
2	g.240878806C>T	CA2209435	AGXT	c.1164C>T (p.Pro388=) n.942C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878807A>C	CA351319894	AGXT	c.1165A>C (p.Lys389Gln) n.943A>C
2	g.240878807A>G	CA351319895	AGXT	c.1165A>G (p.Lys389Glu) n.943A>G	gnomAD v4
2	g.240878807A>T	CA351319896	AGXT	c.1165A>T (p.Lys389Ter) n.943A>T
2	g.240878808A>C	CA351319898	AGXT	c.1166A>C (p.Lys389Thr) n.944A>C
2	g.240878808A>G	CA351319899	AGXT	c.1166A>G (p.Lys389Arg) n.944A>G
2	g.240878808A>T	CA351319897	AGXT	c.1166A>T (p.Lys389Met) n.944A>T
2	g.240878809G>A	CA432027253	AGXT	c.1167G>A (p.Lys389=) n.945G>A
2	g.240878809G>C	CA351319900	AGXT	c.1167G>C (p.Lys389Asn) n.945G>C
2	g.240878809G>T	CA351319901	AGXT	c.1167G>T (p.Lys389Asn) n.945G>T	gnomAD v4
2	g.240878810A=	CA1339336176	AGXT	c.1168A= (p.Lys390=) n.946A=
2	g.240878810A>C	CA351319902	AGXT	c.1168A>C (p.Lys390Gln) n.946A>C	dbSNP gnomAD v2 gnomAD v4
2	g.240878810A>G	CA351319903	AGXT	c.1168A>G (p.Lys390Glu) n.946A>G
2	g.240878810A>T	CA351319904	AGXT	c.1168A>T (p.Lys390Ter) n.946A>T
2	g.240878810_240878811del	CA2580067997	AGXT	c.1168_1169del (p.Lys390GlufsTer22) n.946_947del	ClinVar
2	g.240878811A>C	CA351319907	AGXT	c.1169A>C (p.Lys390Thr) n.947A>C
2	g.240878811A>G	CA351319905	AGXT	c.1169A>G (p.Lys390Arg) n.947A>G
2	g.240878811A>T	CA351319906	AGXT	c.1169A>T (p.Lys390Met) n.947A>T
2	g.240878812G>A	CA68181118	AGXT	c.1170G>A (p.Lys390=) n.948G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched