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.240875036A=	CA1339334119	AGXT	c.681-73A= (n.681-73A=) n.333-73A=
2	g.240875036A>G	CA540536853	AGXT	c.681-73A>G (n.681-73A>G) n.333-73A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875037C>A	CA2577302663	AGXT	c.681-72C>A (n.681-72C>A) n.333-72C>A
2	g.240875037C=	CA1339334120	AGXT	c.681-72C= (n.681-72C=) n.333-72C=
2	g.240875037C>T	CA540536855	AGXT	c.681-72C>T (n.681-72C>T) n.333-72C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875038A=	CA1339334121	AGXT	c.681-71A= (n.681-71A=) n.333-71A=
2	g.240875038A>G	CA68179651	AGXT	c.681-71A>G (n.681-71A>G) n.333-71A>G	dbSNP gnomAD v4
2	g.240875039G>A	CA2577302664	AGXT	c.681-70G>A (n.681-70G>A) n.333-70G>A	gnomAD v4
2	g.240875040C>A	CA2664008714	AGXT	c.681-69C>A (n.681-69C>A) n.333-69C>A	gnomAD v4
2	g.240875040C>T	CA2664008715	AGXT	c.681-69C>T (n.681-69C>T) n.333-69C>T	gnomAD v4
2	g.240875041C>T	CA2664008716	AGXT	c.681-68C>T (n.681-68C>T) n.333-68C>T	gnomAD v4
2	g.240875042A=	CA1339334122	AGXT	c.681-67A= (n.681-67A=) n.333-67A=
2	g.240875042A>G	CA68179654	AGXT	c.681-67A>G (n.681-67A>G) n.333-67A>G	dbSNP gnomAD v4
2	g.240875043G>T	CA2664008720	AGXT	c.681-66G>T (n.681-66G>T) n.333-66G>T	gnomAD v4
2	g.240875044C>A	CA2664008723	AGXT	c.681-65C>A (n.681-65C>A) n.333-65C>A	gnomAD v4
2	g.240875044C=	CA1339334123	AGXT	c.681-65C= (n.681-65C=) n.333-65C=
2	g.240875044C>T	CA68179656	AGXT	c.681-65C>T (n.681-65C>T) n.333-65C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875045G>A	CA68179658	AGXT	c.681-64G>A (n.681-64G>A) n.333-64G>A	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.240875045G=	CA1339334124	AGXT	c.681-64G= (n.681-64G=) n.333-64G=
2	g.240875045G>T	CA2664008729	AGXT	c.681-64G>T (n.681-64G>T) n.333-64G>T	gnomAD v4
2	g.240875046A>G	CA2664008731	AGXT	c.681-63A>G (n.681-63A>G) n.333-63A>G	gnomAD v4
2	g.240875047G>A	CA2664008732	AGXT	c.681-62G>A (n.681-62G>A) n.333-62G>A	gnomAD v4
2	g.240875047G>C	CA2664008734	AGXT	c.681-62G>C (n.681-62G>C) n.333-62G>C	gnomAD v4
2	g.240875048A=	CA1339334125	AGXT	c.681-61A= (n.681-61A=) n.333-61A=
2	g.240875048A>C	CA1339334126	AGXT	c.681-61A>C (n.681-61A>C) n.333-61A>C	dbSNP
2	g.240875048A>T	CA68179661	AGXT	c.681-61A>T (n.681-61A>T) n.333-61A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875049C>A	CA2664008739	AGXT	c.681-60C>A (n.681-60C>A) n.333-60C>A	gnomAD v4
2	g.240875049C=	CA1339334127	AGXT	c.681-60C= (n.681-60C=) n.333-60C=
2	g.240875049C>T	CA766964818	AGXT	c.681-60C>T (n.681-60C>T) n.333-60C>T	dbSNP gnomAD v3 gnomAD v4
2	g.240875050T>C	CA1339334129	AGXT	c.681-59T>C (n.681-59T>C) n.333-59T>C	dbSNP gnomAD v4
2	g.240875050T=	CA1339334128	AGXT	c.681-59T= (n.681-59T=) n.333-59T=
2	g.240875051G=	CA1339334130	AGXT	c.681-58G= (n.681-58G=) n.333-58G=
2	g.240875051G>T	CA68179663	AGXT	c.681-58G>T (n.681-58G>T) n.333-58G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875052C>A	CA2664008745	AGXT	c.681-57C>A (n.681-57C>A) n.333-57C>A	gnomAD v4
2	g.240875052C>T	CA2664008746	AGXT	c.681-57C>T (n.681-57C>T) n.333-57C>T	gnomAD v4
2	g.240875054del	CA2664008744	AGXT	c.681-55del (n.681-55del) n.333-55del	gnomAD v4
2	g.240875053C>A	CA2664008748	AGXT	c.681-56C>A (n.681-56C>A) n.333-56C>A	gnomAD v4
2	g.240875053C=	CA1339334131	AGXT	c.681-56C= (n.681-56C=) n.333-56C=
2	g.240875053C>G	CA2577302665	AGXT	c.681-56C>G (n.681-56C>G) n.333-56C>G
2	g.240875053C>T	CA68179665	AGXT	c.681-56C>T (n.681-56C>T) n.333-56C>T	dbSNP
2	g.240875054C>T	CA2577302666	AGXT	c.681-55C>T (n.681-55C>T) n.333-55C>T
2	g.240875055_240875058dup	CA2572990170	AGXT	c.681-54_681-51dup (n.681-54_681-51dup) n.333-54_333-51dup
2	g.240875055T>C	CA2577302667	AGXT	c.681-54T>C (n.681-54T>C) n.333-54T>C	gnomAD v4
2	g.240875058C>A	CA2664008752	AGXT	c.681-51C>A (n.681-51C>A) n.333-51C>A	gnomAD v4
2	g.240875058C=	CA1339334132	AGXT	c.681-51C= (n.681-51C=) n.333-51C=
2	g.240875058C>G	CA2519856819	AGXT	c.681-51C>G (n.681-51C>G) n.333-51C>G
2	g.240875058C>T	CA2209197	AGXT	c.681-51C>T (n.681-51C>T) n.333-51C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875059C>A	CA1339334134	AGXT	c.681-50C>A (n.681-50C>A) n.333-50C>A	dbSNP

Number of alleles fetched