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.240875166G>A	CA340447	AGXT	c.738G>A (p.Trp246Ter) n.390G>A	ClinVar dbSNP gnomAD v4
2	g.240875166G>C	CA351318176	AGXT	c.738G>C (p.Trp246Cys) n.390G>C
2	g.240875166G=	CA1339334196	AGXT	c.738G= (p.Trp246=) n.390G=
2	g.240875166G>T	CA351318177	AGXT	c.738G>T (p.Trp246Cys) n.390G>T
2	g.240875167C>A	CA351318179	AGXT	c.739C>A (p.Leu247Met) n.391C>A
2	g.240875167C>G	CA351318181	AGXT	c.739C>G (p.Leu247Val) n.391C>G
2	g.240875167C>T	CA432024407	AGXT	c.739C>T (p.Leu247=) n.391C>T
2	g.240875168T>A	CA351318184	AGXT	c.740T>A (p.Leu247Gln) n.392T>A
2	g.240875168T>C	CA351318185	AGXT	c.740T>C (p.Leu247Pro) n.392T>C
2	g.240875168T>G	CA2209224	AGXT	c.740T>G (p.Leu247Arg) n.392T>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875168T=	CA1339334197	AGXT	c.740T= (p.Leu247=) n.392T=
2	g.240875169G>A	CA432024409	AGXT	c.741G>A (p.Leu247=) n.393G>A	ClinVar dbSNP
2	g.240875169G>C	CA432024411	AGXT	c.741G>C (p.Leu247=) n.393G>C
2	g.240875169G>T	CA432024410	AGXT	c.741G>T (p.Leu247=) n.393G>T
2	g.240875170G>A	CA68179728	AGXT	c.742G>A (p.Ala248Thr) n.394G>A	dbSNP
2	g.240875170G>C	CA351318189	AGXT	c.742G>C (p.Ala248Pro) n.394G>C
2	g.240875170G=	CA1339334199	AGXT	c.742G= (p.Ala248=) n.394G=
2	g.240875170G>T	CA275588	AGXT	c.742G>T (p.Ala248Ser) n.394G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875170_240875171delinsGC	CA1339334198	AGXT	c.742_743delinsGC (p.Ala248=) n.394_395delinsGC
2	g.240875171C>A	CA351318193	AGXT	c.743C>A (p.Ala248Asp) n.395C>A	gnomAD v4
2	g.240875171C=	CA1339334200	AGXT	c.743C= (p.Ala248=) n.395C=
2	g.240875171C>G	CA351318192	AGXT	c.743C>G (p.Ala248Gly) n.395C>G	dbSNP gnomAD v4
2	g.240875171C>T	CA2209225	AGXT	c.743C>T (p.Ala248Val) n.395C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875172del	CA275850	AGXT	c.744del (p.Asn249ThrfsTer24) n.396del	ClinVar dbSNP
2	g.240875172C>A	CA432024412	AGXT	c.744C>A (p.Ala248=) n.396C>A
2	g.240875172C>G	CA432024413	AGXT	c.744C>G (p.Ala248=) n.396C>G
2	g.240875172C>T	CA432024414	AGXT	c.744C>T (p.Ala248=) n.396C>T
2	g.240875173A=	CA1339334201	AGXT	c.745A= (p.Asn249=) n.397A=
2	g.240875173A>C	CA351318196	AGXT	c.745A>C (p.Asn249His) n.397A>C	dbSNP
2	g.240875173A>G	CA351318199	AGXT	c.745A>G (p.Asn249Asp) n.397A>G	gnomAD v4
2	g.240875173A>T	CA351318201	AGXT	c.745A>T (p.Asn249Tyr) n.397A>T
2	g.240875174A>C	CA351318203	AGXT	c.746A>C (p.Asn249Thr) n.398A>C
2	g.240875174A>G	CA351318206	AGXT	c.746A>G (p.Asn249Ser) n.398A>G
2	g.240875174A>T	CA351318207	AGXT	c.746A>T (p.Asn249Ile) n.398A>T
2	g.240875175C>A	CA351318209	AGXT	c.747C>A (p.Asn249Lys) n.399C>A
2	g.240875175C>G	CA351318210	AGXT	c.747C>G (p.Asn249Lys) n.399C>G
2	g.240875175C>T	CA432024415	AGXT	c.747C>T (p.Asn249=) n.399C>T
2	g.240875176T>A	CA351318211	AGXT	c.748T>A (p.Phe250Ile) n.400T>A
2	g.240875176T>C	CA351318212	AGXT	c.748T>C (p.Phe250Leu) n.400T>C
2	g.240875176T>G	CA351318213	AGXT	c.748T>G (p.Phe250Val) n.400T>G	COSMIC
2	g.240875177T>A	CA351318215	AGXT	c.749T>A (p.Phe250Tyr) n.401T>A
2	g.240875177T>C	CA351318216	AGXT	c.749T>C (p.Phe250Ser) n.401T>C
2	g.240875177T>G	CA351318214	AGXT	c.749T>G (p.Phe250Cys) n.401T>G
2	g.240875178C>A	CA351318218	AGXT	c.750C>A (p.Phe250Leu) n.402C>A
2	g.240875178C>G	CA351318217	AGXT	c.750C>G (p.Phe250Leu) n.402C>G
2	g.240875178C>T	CA432024416	AGXT	c.750C>T (p.Phe250=) n.402C>T
2	g.240875179T>A	CA351318219	AGXT	c.751T>A (p.Trp251Arg) n.403T>A	dbSNP gnomAD v3 gnomAD v4
2	g.240875179T>C	CA2209226	AGXT	c.751T>C (p.Trp251Arg) n.403T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched