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.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
2	g.240875137C>T	CA351318056	AGXT	c.709C>T (p.Pro237Ser) n.361C>T
2	g.240875138C>A	CA351318058	AGXT	c.710C>A (p.Pro237His) n.362C>A
2	g.240875138C=	CA1339334180	AGXT	c.710C= (p.Pro237=) n.362C=
2	g.240875138C>G	CA351318059	AGXT	c.710C>G (p.Pro237Arg) n.362C>G
2	g.240875138C>T	CA2209215	AGXT	c.710C>T (p.Pro237Leu) n.362C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875139C>A	CA432024387	AGXT	c.711C>A (p.Pro237=) n.363C>A	dbSNP
2	g.240875139C=	CA1339334181	AGXT	c.711C= (p.Pro237=) n.363C=
2	g.240875139C>G	CA2209216	AGXT	c.711C>G (p.Pro237=) n.363C>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875139C>T	CA432024388	AGXT	c.711C>T (p.Pro237=) n.363C>T	ClinVar dbSNP gnomAD v4
2	g.240875140T>A	CA351318065	AGXT	c.712T>A (p.Phe238Ile) n.364T>A
2	g.240875140T>C	CA351318068	AGXT	c.712T>C (p.Phe238Leu) n.364T>C	gnomAD v4
2	g.240875140T>G	CA68179707	AGXT	c.712T>G (p.Phe238Val) n.364T>G	dbSNP
2	g.240875140T=	CA1339334182	AGXT	c.712T= (p.Phe238=) n.364T=
2	g.240875141T>A	CA351318070	AGXT	c.713T>A (p.Phe238Tyr) n.365T>A
2	g.240875141T>C	CA351318071	AGXT	c.713T>C (p.Phe238Ser) n.365T>C
2	g.240875141T>G	CA351318072	AGXT	c.713T>G (p.Phe238Cys) n.365T>G
2	g.240875142C>A	CA351318075	AGXT	c.714C>A (p.Phe238Leu) n.366C>A
2	g.240875142C>G	CA351318077	AGXT	c.714C>G (p.Phe238Leu) n.366C>G
2	g.240875142C>T	CA432024390	AGXT	c.714C>T (p.Phe238=) n.366C>T	gnomAD v4
2	g.240875142dup	CA2664009013	AGXT	c.714dup (p.Ser239LeufsTer16) n.366dup	gnomAD v4
2	g.240875144_240875146del	CA2695197716	AGXT	c.716_718del (p.Ser239del) n.368_370del	ClinVar
2	g.240875143T>A	CA351318079	AGXT	c.715T>A (p.Ser239Thr) n.367T>A
2	g.240875143T>C	CA351318081	AGXT	c.715T>C (p.Ser239Pro) n.367T>C
2	g.240875143T>G	CA351318083	AGXT	c.715T>G (p.Ser239Ala) n.367T>G
2	g.240875144C>A	CA351318085	AGXT	c.716C>A (p.Ser239Tyr) n.368C>A
2	g.240875144C>G	CA351318086	AGXT	c.716C>G (p.Ser239Cys) n.368C>G
2	g.240875144C>T	CA351318087	AGXT	c.716C>T (p.Ser239Phe) n.368C>T
2	g.240875145dup	CA2664009019	AGXT	c.717dup (p.Phe240LeufsTer15) n.369dup	gnomAD v4
2	g.240875145C>A	CA432024392	AGXT	c.717C>A (p.Ser239=) n.369C>A
2	g.240875145C=	CA1339334183	AGXT	c.717C= (p.Ser239=) n.369C=
2	g.240875145C>G	CA432024391	AGXT	c.717C>G (p.Ser239=) n.369C>G
2	g.240875145C>T	CA2209217	AGXT	c.717C>T (p.Ser239=) n.369C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240875147_240875149del	CA2664009026	AGXT	c.719_721del (p.Phe240del) n.371_373del	gnomAD v4
2	g.240875146T>A	CA2209218	AGXT	c.718T>A (p.Phe240Ile) n.370T>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875146T>C	CA351318090	AGXT	c.718T>C (p.Phe240Leu) n.370T>C
2	g.240875146T>G	CA351318088	AGXT	c.718T>G (p.Phe240Val) n.370T>G
2	g.240875146T=	CA1339334184	AGXT	c.718T= (p.Phe240=) n.370T=
2	g.240875147T>A	CA351318092	AGXT	c.719T>A (p.Phe240Tyr) n.371T>A
2	g.240875147T>C	CA351318093	AGXT	c.719T>C (p.Phe240Ser) n.371T>C
2	g.240875147T>G	CA351318094	AGXT	c.719T>G (p.Phe240Cys) n.371T>G
2	g.240875148C>A	CA351318096	AGXT	c.720C>A (p.Phe240Leu) n.372C>A

Number of alleles fetched