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.240875147_240875149del	CA2664009026	AGXT	c.719_721del (p.Phe240del) n.371_373del	gnomAD v4
2	g.240875149T>A	CA351318100	AGXT	c.721T>A (p.Tyr241Asn) n.373T>A
2	g.240875149T>C	CA2209219	AGXT	c.721T>C (p.Tyr241His) n.373T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875149T>G	CA351318099	AGXT	c.721T>G (p.Tyr241Asp) n.373T>G
2	g.240875149T=	CA1339334185	AGXT	c.721T= (p.Tyr241=) n.373T=
2	g.240875150A>C	CA351318101	AGXT	c.722A>C (p.Tyr241Ser) n.374A>C
2	g.240875150A>G	CA351318102	AGXT	c.722A>G (p.Tyr241Cys) n.374A>G
2	g.240875150A>T	CA351318103	AGXT	c.722A>T (p.Tyr241Phe) n.374A>T
2	g.240875151C>A	CA351318104	AGXT	c.723C>A (p.Tyr241Ter) n.375C>A
2	g.240875151C=	CA1339334186	AGXT	c.723C= (p.Tyr241=) n.375C=
2	g.240875151C>G	CA351318114	AGXT	c.723C>G (p.Tyr241Ter) n.375C>G
2	g.240875151C>T	CA68179712	AGXT	c.723C>T (p.Tyr241=) n.375C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240875152C>A	CA351318118	AGXT	c.724C>A (p.Leu242Met) n.376C>A
2	g.240875152C=	CA1339334187	AGXT	c.724C= (p.Leu242=) n.376C=
2	g.240875152C>G	CA351318120	AGXT	c.724C>G (p.Leu242Val) n.376C>G	gnomAD v4
2	g.240875152C>T	CA432024395	AGXT	c.724C>T (p.Leu242=) n.376C>T	ClinVar
2	g.240875153T>A	CA351318122	AGXT	c.725T>A (p.Leu242Gln) n.377T>A
2	g.240875153T>C	CA351318129	AGXT	c.725T>C (p.Leu242Pro) n.377T>C
2	g.240875153T>G	CA351318128	AGXT	c.725T>G (p.Leu242Arg) n.377T>G
2	g.240875153dup	CA275849	AGXT	c.725dup (p.Asp243GlyfsTer12) n.377dup	ClinVar dbSNP
2	g.240875154G>A	CA432024400	AGXT	c.726G>A (p.Leu242=) n.378G>A	ClinVar
2	g.240875154G>C	CA432024399	AGXT	c.726G>C (p.Leu242=) n.378G>C
2	g.240875154G>T	CA432024398	AGXT	c.726G>T (p.Leu242=) n.378G>T
2	g.240875155G>A	CA351318131	AGXT	c.727G>A (p.Asp243Asn) n.379G>A
2	g.240875155G>C	CA275733	AGXT	c.727G>C (p.Asp243His) n.379G>C	ClinVar dbSNP COSMIC
2	g.240875155G=	CA1339334188	AGXT	c.727G= (p.Asp243=) n.379G=
2	g.240875155G>T	CA351318133	AGXT	c.727G>T (p.Asp243Tyr) n.379G>T	dbSNP
2	g.240875156A=	CA1339334189	AGXT	c.728A= (p.Asp243=) n.380A=
2	g.240875156A>C	CA351318134	AGXT	c.728A>C (p.Asp243Ala) n.380A>C
2	g.240875156A>G	CA2209220	AGXT	c.728A>G (p.Asp243Gly) n.380A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875156A>T	CA351318136	AGXT	c.728A>T (p.Asp243Val) n.380A>T
2	g.240875157C>A	CA351318138	AGXT	c.729C>A (p.Asp243Glu) n.381C>A
2	g.240875157C=	CA1339334190	AGXT	c.729C= (p.Asp243=) n.381C=
2	g.240875157C>G	CA351318140	AGXT	c.729C>G (p.Asp243Glu) n.381C>G
2	g.240875157C>T	CA432024403	AGXT	c.729C>T (p.Asp243=) n.381C>T	ClinVar dbSNP gnomAD v4
2	g.240875158A=	CA1339334191	AGXT	c.730A= (p.Ile244=) n.382A=
2	g.240875158A>C	CA351318141	AGXT	c.730A>C (p.Ile244Leu) n.382A>C
2	g.240875158A>G	CA2209221	AGXT	c.730A>G (p.Ile244Val) n.382A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875158A>T	CA351318144	AGXT	c.730A>T (p.Ile244Phe) n.382A>T
2	g.240875159T>A	CA351318146	AGXT	c.731T>A (p.Ile244Asn) n.383T>A	ClinVar
2	g.240875159T>C	CA340445	AGXT	c.731T>C (p.Ile244Thr) n.383T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875159T>G	CA351318148	AGXT	c.731T>G (p.Ile244Ser) n.383T>G
2	g.240875159T=	CA1339334192	AGXT	c.731T= (p.Ile244=) n.383T=
2	g.240875160C>A	CA2209222	AGXT	c.732C>A (p.Ile244=) n.384C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875160C=	CA1339334193	AGXT	c.732C= (p.Ile244=) n.384C=
2	g.240875160C>G	CA68179721	AGXT	c.732C>G (p.Ile244Met) n.384C>G	dbSNP gnomAD v4
2	g.240875160C>T	CA432024405	AGXT	c.732C>T (p.Ile244=) n.384C>T
2	g.240875161A>C	CA351318155	AGXT	c.733A>C (p.Lys245Gln) n.385A>C

Number of alleles fetched