Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240868866_240871449del	CA2741808836	AGXT	c.1_524del n.21_544del	ClinVar
2	g.240869303_240869311dup	CA352232	AGXT	c.299_307dup (p.Val102_Gly103insValLeuVal) n.319_327dup n.405+922_405+930dup	ClinVar dbSNP
2	g.[240869303_240869311dup;240869312G>A]	CA352236	AGXT	c.[299_307dup;308G>A] (p.[Val102_Gly103insValLeuVal;Gly103Glu]) n.[319_327dup;328G>A] n.[405+921C>T;405+922_405+930dup]	ClinVar
2	g.240869310T>A	CA432021917	AGXT	c.306T>A (p.Val102=) n.326T>A n.405+923A>T
2	g.240869310T>C	CA68173864	AGXT	c.306T>C (p.Val102=) n.326T>C n.405+923A>G	dbSNP
2	g.240869310T>G	CA432021919	AGXT	c.306T>G (p.Val102=) n.326T>G n.405+923A>C
2	g.240869310T=	CA1339330990	AGXT	c.306T= (p.Val102=) n.326T= n.405+923A=
2	g.240869311G>A	CA351313777	AGXT	c.307G>A (p.Gly103Arg) n.327G>A n.405+922C>T	ClinVar dbSNP COSMIC
2	g.240869311G>C	CA351313779	AGXT	c.307G>C (p.Gly103Arg) n.327G>C n.405+922C>G
2	g.240869311G>T	CA351313778	AGXT	c.307G>T (p.Gly103Trp) n.327G>T n.405+922C>A	ClinVar
2	g.240869316_240869332dup	CA1339330991	AGXT	c.312_328dup (p.Gln110ProfsTer16) n.332_348dup n.405+906_405+922dup	dbSNP
2	g.240869311_240869312insCAGGGGCT	CA2754891925	AGXT	c.307_308insCAGGGGCT (p.Gly103AlafsTer20) n.327_328insCAGGGGCT n.405+921_405+922insAGCCCCTG
2	g.240869312G>A	CA352234	AGXT	c.308G>A (p.Gly103Glu) n.328G>A n.405+921C>T	dbSNP gnomAD v4 COSMIC
2	g.240869312G>C	CA351313780	AGXT	c.308G>C (p.Gly103Ala) n.328G>C n.405+921C>G	gnomAD v4
2	g.240869312G=	CA1339330992	AGXT	c.308G= (p.Gly103=) n.328G= n.405+921C=
2	g.240869312G>T	CA351313782	AGXT	c.308G>T (p.Gly103Val) n.328G>T n.405+921C>A
2	g.240869312delinsTCCTGGTTGA	CA2586971632	AGXT	c.308delinsTCCTGGTTGA (p.Gly103delinsValLeuValGlu) n.328delinsTCCTGGTTGA n.405+921delinsTCAACCAGGA
2	g.240869313G>A	CA2209044	AGXT	c.309G>A (p.Gly103=) n.329G>A n.405+920C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240869313G>C	CA432021927	AGXT	c.309G>C (p.Gly103=) n.329G>C n.405+920C>G
2	g.240869313G=	CA1339330993	AGXT	c.309G= (p.Gly103=) n.329G= n.405+920C=
2	g.240869313G>T	CA432021928	AGXT	c.309G>T (p.Gly103=) n.329G>T n.405+920C>A	ClinVar dbSNP gnomAD v4
2	g.240869314G>A	CA351313787	AGXT	c.310G>A (p.Ala104Thr) n.330G>A n.405+919C>T
2	g.240869314G>C	CA351313792	AGXT	c.310G>C (p.Ala104Pro) n.330G>C n.405+919C>G
2	g.240869314G>T	CA351313790	AGXT	c.310G>T (p.Ala104Ser) n.330G>T n.405+919C>A
2	g.240869315C>A	CA351313795	AGXT	c.311C>A (p.Ala104Asp) n.331C>A n.405+918G>T
2	g.240869315C>G	CA351313797	AGXT	c.311C>G (p.Ala104Gly) n.331C>G n.405+918G>C
2	g.240869315C>T	CA351313799	AGXT	c.311C>T (p.Ala104Val) n.331C>T n.405+918G>A
2	g.240869316C>A	CA432021934	AGXT	c.312C>A (p.Ala104=) n.332C>A n.405+917G>T
2	g.240869316C=	CA1339330994	AGXT	c.312C= (p.Ala104=) n.332C= n.405+917G=
2	g.240869316C>G	CA432021936	AGXT	c.312C>G (p.Ala104=) n.332C>G n.405+917G>C
2	g.240869316C>T	CA432021938	AGXT	c.312C>T (p.Ala104=) n.332C>T n.405+917G>A	dbSNP
2	g.240869317A=	CA1339330995	AGXT	c.313A= (p.Asn105=) n.333A= n.405+916T=
2	g.240869317A>C	CA351313802	AGXT	c.313A>C (p.Asn105His) n.333A>C n.405+916T>G	dbSNP gnomAD v3 gnomAD v4
2	g.240869317A>G	CA351313804	AGXT	c.313A>G (p.Asn105Asp) n.333A>G n.405+916T>C
2	g.240869317A>T	CA351313806	AGXT	c.313A>T (p.Asn105Tyr) n.333A>T n.405+916T>A
2	g.240869318A=	CA1339330996	AGXT	c.314A= (p.Asn105=) n.334A= n.405+915T=
2	g.240869318A>C	CA351313810	AGXT	c.314A>C (p.Asn105Thr) n.334A>C n.405+915T>G
2	g.240869318A>G	CA2209045	AGXT	c.314A>G (p.Asn105Ser) n.334A>G n.405+915T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240869318A>T	CA351313808	AGXT	c.314A>T (p.Asn105Ile) n.334A>T n.405+915T>A
2	g.240869319T>A	CA351313812	AGXT	c.315T>A (p.Asn105Lys) n.335T>A n.405+914A>T
2	g.240869319T>C	CA432021947	AGXT	c.315T>C (p.Asn105=) n.335T>C n.405+914A>G	gnomAD v4
2	g.240869319T>G	CA351313814	AGXT	c.315T>G (p.Asn105Lys) n.335T>G n.405+914A>C
2	g.240869320G>A	CA351313817	AGXT	c.316G>A (p.Gly106Ser) n.336G>A n.405+913C>T	gnomAD v4
2	g.240869320G>C	CA351313819	AGXT	c.316G>C (p.Gly106Arg) n.336G>C n.405+913C>G
2	g.240869320G>T	CA351313820	AGXT	c.316G>T (p.Gly106Cys) n.336G>T n.405+913C>A
2	g.240869321G>A	CA351313822	AGXT	c.317G>A (p.Gly106Asp) n.337G>A n.405+912C>T	gnomAD v4 COSMIC
2	g.240869321G>C	CA351313827	AGXT	c.317G>C (p.Gly106Ala) n.337G>C n.405+912C>G
2	g.240869321G>T	CA351313824	AGXT	c.317G>T (p.Gly106Val) n.337G>T n.405+912C>A
2	g.240869322C>A	CA432021955	AGXT	c.318C>A (p.Gly106=) n.338C>A n.405+911G>T
2	g.240869322C>G	CA432021956	AGXT	c.318C>G (p.Gly106=) n.338C>G n.405+911G>C

Number of alleles fetched