Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240874541_240875273delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC	CA1339333857	AGXT	c.680+479_776+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC n.333-568_428+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC
2	g.240874542_240875273delinsTGAGA	CA275848	AGXT	c.680+480_776+69delinsTGAGA n.333-567_428+69delinsTGAGA	ClinVar dbSNP
2	g.240875101_240875148dup	CA540536870	AGXT	c.681-8_720dup n.333-8_372dup	dbSNP gnomAD v2 gnomAD v4
2	g.240875117_240875134del	CA2577302675	AGXT	c.689_706del (p.Met230_Thr235del) n.341_358del
2	g.240875125C>A	CA351317985	AGXT	c.697C>A (p.Arg233Ser) n.349C>A	gnomAD v4
2	g.240875125C=	CA1339334172	AGXT	c.697C= (p.Arg233=) n.349C=
2	g.240875125C>G	CA351317989	AGXT	c.697C>G (p.Arg233Gly) n.349C>G
2	g.240875125C>T	CA340446	AGXT	c.697C>T (p.Arg233Cys) n.349C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875126G>A	CA253545	AGXT	c.698G>A (p.Arg233His) n.350G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875126G>C	CA2209211	AGXT	c.698G>C (p.Arg233Pro) n.350G>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875126G=	CA1339334173	AGXT	c.698G= (p.Arg233=) n.350G=
2	g.240875126G>T	CA275732	AGXT	c.698G>T (p.Arg233Leu) n.350G>T	ClinVar dbSNP gnomAD v4 COSMIC
2	g.240875127C>A	CA432024377	AGXT	c.699C>A (p.Arg233=) n.351C>A
2	g.240875127C=	CA1339334174	AGXT	c.699C= (p.Arg233=) n.351C=
2	g.240875127C>G	CA432024378	AGXT	c.699C>G (p.Arg233=) n.351C>G
2	g.240875127C>T	CA432024379	AGXT	c.699C>T (p.Arg233=) n.351C>T	dbSNP gnomAD v3 gnomAD v4
2	g.240875128A>C	CA351318002	AGXT	c.700A>C (p.Lys234Gln) n.352A>C
2	g.240875128A>G	CA351318007	AGXT	c.700A>G (p.Lys234Glu) n.352A>G
2	g.240875128A>T	CA351318005	AGXT	c.700A>T (p.Lys234Ter) n.352A>T
2	g.240875129A=	CA1339334175	AGXT	c.701A= (p.Lys234=) n.353A=
2	g.240875129A>C	CA351318009	AGXT	c.701A>C (p.Lys234Thr) n.353A>C	dbSNP gnomAD v4
2	g.240875129A>G	CA2209212	AGXT	c.701A>G (p.Lys234Arg) n.353A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875129A>T	CA351318012	AGXT	c.701A>T (p.Lys234Met) n.353A>T
2	g.240875130G>A	CA432024381	AGXT	c.702G>A (p.Lys234=) n.354G>A	gnomAD v4 COSMIC
2	g.240875130G>C	CA351318017	AGXT	c.702G>C (p.Lys234Asn) n.354G>C
2	g.240875130G=	CA1339334176	AGXT	c.702G= (p.Lys234=) n.354G=
2	g.240875130G>T	CA351318020	AGXT	c.702G>T (p.Lys234Asn) n.354G>T	dbSNP gnomAD v3 gnomAD v4
2	g.240875131A>C	CA351318023	AGXT	c.703A>C (p.Thr235Pro) n.355A>C
2	g.240875131A>G	CA351318025	AGXT	c.703A>G (p.Thr235Ala) n.355A>G
2	g.240875131A>T	CA351318027	AGXT	c.703A>T (p.Thr235Ser) n.355A>T	gnomAD v4
2	g.240875132C>A	CA351318029	AGXT	c.704C>A (p.Thr235Lys) n.356C>A
2	g.240875132C=	CA1339334177	AGXT	c.704C= (p.Thr235=) n.356C=
2	g.240875132C>G	CA351318031	AGXT	c.704C>G (p.Thr235Arg) n.356C>G
2	g.240875132C>T	CA2209213	AGXT	c.704C>T (p.Thr235Met) n.356C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875133G>A	CA275585	AGXT	c.705G>A (p.Thr235=) n.357G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875133G>C	CA432024384	AGXT	c.705G>C (p.Thr235=) n.357G>C
2	g.240875133G=	CA1339334178	AGXT	c.705G= (p.Thr235=) n.357G=
2	g.240875133G>T	CA432024385	AGXT	c.705G>T (p.Thr235=) n.357G>T	gnomAD v4
2	g.240875134A>C	CA351318037	AGXT	c.706A>C (p.Lys236Gln) n.358A>C
2	g.240875134A>G	CA351318038	AGXT	c.706A>G (p.Lys236Glu) n.358A>G
2	g.240875134A>T	CA351318041	AGXT	c.706A>T (p.Lys236Ter) n.358A>T	ClinVar
2	g.240875135A>C	CA351318043	AGXT	c.707A>C (p.Lys236Thr) n.359A>C
2	g.240875135A>G	CA351318047	AGXT	c.707A>G (p.Lys236Arg) n.359A>G
2	g.240875135A>T	CA351318046	AGXT	c.707A>T (p.Lys236Met) n.359A>T
2	g.240875136G>A	CA432024386	AGXT	c.708G>A (p.Lys236=) n.360G>A	gnomAD v4
2	g.240875136G>C	CA351318049	AGXT	c.708G>C (p.Lys236Asn) n.360G>C
2	g.240875136G>T	CA351318050	AGXT	c.708G>T (p.Lys236Asn) n.360G>T
2	g.240875137C>A	CA351318053	AGXT	c.709C>A (p.Pro237Thr) n.361C>A
2	g.240875137C=	CA1339334179	AGXT	c.709C= (p.Pro237=) n.361C=
2	g.240875137C>G	CA2209214	AGXT	c.709C>G (p.Pro237Ala) n.361C>G	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched