Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240878806del	CA2664012541	AGXT	c.1164del (p.Lys389ArgfsTer?) n.942del	gnomAD v4
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
2	g.240878812G>C	CA351319908	AGXT	c.1170G>C (p.Lys390Asn) n.948G>C
2	g.240878812G=	CA1339336177	AGXT	c.1170G= (p.Lys390=) n.948G=
2	g.240878812G>T	CA351319909	AGXT	c.1170G>T (p.Lys390Asn) n.948G>T	gnomAD v4
2	g.240878813A>C	CA351319910	AGXT	c.1171A>C (p.Lys391Gln) n.949A>C
2	g.240878813A>G	CA351319911	AGXT	c.1171A>G (p.Lys391Glu) n.949A>G
2	g.240878813A>T	CA351319912	AGXT	c.1171A>T (p.Lys391Ter) n.949A>T
2	g.240878813_240878814del	CA2664012563	AGXT	c.1171_1172del (p.Lys391AlafsTer21) n.949_950del	gnomAD v4
2	g.240878814A>C	CA351319915	AGXT	c.1172A>C (p.Lys391Thr) n.950A>C
2	g.240878814A>G	CA351319914	AGXT	c.1172A>G (p.Lys391Arg) n.950A>G
2	g.240878814A>T	CA351319913	AGXT	c.1172A>T (p.Lys391Met) n.950A>T
2	g.240878815G>A	CA432027276	AGXT	c.1173G>A (p.Lys391=) n.951G>A	ClinVar dbSNP gnomAD v4
2	g.240878815G>C	CA351319916	AGXT	c.1173G>C (p.Lys391Asn) n.951G>C
2	g.240878815G>T	CA351319917	AGXT	c.1173G>T (p.Lys391Asn) n.951G>T	gnomAD v4
2	g.240878816C>A	CA351319918	AGXT	c.1174C>A (p.Leu392Met) n.952C>A	gnomAD v4
2	g.240878816C=	CA1339336178	AGXT	c.1174C= (p.Leu392=) n.952C=
2	g.240878816C>G	CA351319919	AGXT	c.1174C>G (p.Leu392Val) n.952C>G
2	g.240878816C>T	CA275607	AGXT	c.1174C>T (p.Leu392=) n.952C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878819_240878825del	CA2664012570	AGXT	c.1177_4del (n.[c.1177_4del;Ter393ProextTer?]) n.955_961del	gnomAD v4
2	g.240878817T>A	CA351319920	AGXT	c.1175T>A (p.Leu392Gln) n.953T>A
2	g.240878817T>C	CA351319922	AGXT	c.1175T>C (p.Leu392Pro) n.953T>C
2	g.240878817T>G	CA351319921	AGXT	c.1175T>G (p.Leu392Arg) n.953T>G
2	g.240878818G>A	CA432027284	AGXT	c.1176G>A (p.Leu392=) n.954G>A	gnomAD v4
2	g.240878818G>C	CA432027286	AGXT	c.1176G>C (p.Leu392=) n.954G>C	ClinVar gnomAD v4
2	g.240878818G>T	CA432027289	AGXT	c.1176G>T (p.Leu392=) n.954G>T	gnomAD v4
2	g.240878819T>A	CA351319923	AGXT	c.1177T>A (p.Ter393Arg) n.955T>A
2	g.240878819T>C	CA351319924	AGXT	c.1177T>C (p.Ter393Arg) n.955T>C	gnomAD v4
2	g.240878819T>G	CA351319925	AGXT	c.1177T>G (p.Ter393Gly) n.955T>G	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched