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.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
2	g.240875161A>G	CA351318157	AGXT	c.733A>G (p.Lys245Glu) n.385A>G
2	g.240875161A>T	CA351318158	AGXT	c.733A>T (p.Lys245Ter) n.385A>T
2	g.240875161_240875162del	CA915940274	AGXT	c.733_734del (p.Lys245ValfsTer9) n.385_386del	ClinVar
2	g.240875162A>C	CA351318161	AGXT	c.734A>C (p.Lys245Thr) n.386A>C
2	g.240875162A>G	CA351318162	AGXT	c.734A>G (p.Lys245Arg) n.386A>G
2	g.240875162A>T	CA351318164	AGXT	c.734A>T (p.Lys245Met) n.386A>T
2	g.240875163G>A	CA2209223	AGXT	c.735G>A (p.Lys245=) n.387G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875163G>C	CA351318167	AGXT	c.735G>C (p.Lys245Asn) n.387G>C
2	g.240875163G=	CA1339334194	AGXT	c.735G= (p.Lys245=) n.387G=
2	g.240875163G>T	CA351318169	AGXT	c.735G>T (p.Lys245Asn) n.387G>T
2	g.240875164T>A	CA351318170	AGXT	c.736T>A (p.Trp246Arg) n.388T>A
2	g.240875164T>C	CA351318171	AGXT	c.736T>C (p.Trp246Arg) n.388T>C	gnomAD v4
2	g.240875164T>G	CA351318173	AGXT	c.736T>G (p.Trp246Gly) n.388T>G
2	g.240875165G>A	CA274296	AGXT	c.737G>A (p.Trp246Ter) n.389G>A	ClinVar dbSNP
2	g.240875165G>C	CA351318175	AGXT	c.737G>C (p.Trp246Ser) n.389G>C
2	g.240875165G=	CA1339334195	AGXT	c.737G= (p.Trp246=) n.389G=
2	g.240875165G>T	CA351318174	AGXT	c.737G>T (p.Trp246Leu) n.389G>T
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

Number of alleles fetched