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
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
2	g.240875179T>G	CA351318220	AGXT	c.751T>G (p.Trp251Gly) n.403T>G
2	g.240875179T=	CA1339334203	AGXT	c.751T= (p.Trp251=) n.403T=
2	g.240875179_240875180delinsAA	CA275851	AGXT	c.751_752delinsAA (p.Trp251Lys) n.403_404delinsAA	ClinVar dbSNP
2	g.240875179_240875180delinsTG	CA1339334202	AGXT	c.751_752delinsTG (p.Trp251=) n.403_404delinsTG
2	g.240875180G>A	CA274094	AGXT	c.752G>A (p.Trp251Ter) n.404G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.240875180G>C	CA351318222	AGXT	c.752G>C (p.Trp251Ser) n.404G>C	gnomAD v4
2	g.240875180G=	CA1339334204	AGXT	c.752G= (p.Trp251=) n.404G=
2	g.240875180G>T	CA351318221	AGXT	c.752G>T (p.Trp251Leu) n.404G>T
2	g.240875181G>A	CA275734	AGXT	c.753G>A (p.Trp251Ter) n.405G>A	ClinVar dbSNP
2	g.240875181G>C	CA351318223	AGXT	c.753G>C (p.Trp251Cys) n.405G>C
2	g.240875181G=	CA1339334205	AGXT	c.753G= (p.Trp251=) n.405G=
2	g.240875181G>T	CA351318224	AGXT	c.753G>T (p.Trp251Cys) n.405G>T
2	g.240875182G>A	CA351318225	AGXT	c.754G>A (p.Gly252Ser) n.406G>A	dbSNP gnomAD v3 gnomAD v4
2	g.240875182G>C	CA351318226	AGXT	c.754G>C (p.Gly252Arg) n.406G>C
2	g.240875182G=	CA1339334206	AGXT	c.754G= (p.Gly252=) n.406G=
2	g.240875182G>T	CA351318227	AGXT	c.754G>T (p.Gly252Cys) n.406G>T
2	g.240875183G>A	CA351318228	AGXT	c.755G>A (p.Gly252Asp) n.407G>A
2	g.240875183G>C	CA351318230	AGXT	c.755G>C (p.Gly252Ala) n.407G>C
2	g.240875183G>T	CA351318229	AGXT	c.755G>T (p.Gly252Val) n.407G>T	gnomAD v4
2	g.240875184C>A	CA432024419	AGXT	c.756C>A (p.Gly252=) n.408C>A
2	g.240875184C>G	CA432024421	AGXT	c.756C>G (p.Gly252=) n.408C>G
2	g.240875184C>T	CA432024418	AGXT	c.756C>T (p.Gly252=) n.408C>T
2	g.240875185T>A	CA351318231	AGXT	c.757T>A (p.Cys253Ser) n.409T>A
2	g.240875185T>C	CA275736	AGXT	c.757T>C (p.Cys253Arg) n.409T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875185T>G	CA351318232	AGXT	c.757T>G (p.Cys253Gly) n.409T>G
2	g.240875185T=	CA1339334207	AGXT	c.757T= (p.Cys253=) n.409T=
2	g.240875187_240875188del	CA2577302676	AGXT	c.759_760del (p.Cys253Ter) n.411_412del
2	g.240875186G>A	CA351318233	AGXT	c.758G>A (p.Cys253Tyr) n.410G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240875186G>C	CA2209227	AGXT	c.758G>C (p.Cys253Ser) n.410G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875186G=	CA1339334208	AGXT	c.758G= (p.Cys253=) n.410G=
2	g.240875186G>T	CA351318234	AGXT	c.758G>T (p.Cys253Phe) n.410G>T	COSMIC
2	g.240875187T>A	CA351318235	AGXT	c.759T>A (p.Cys253Ter) n.411T>A
2	g.240875187T>C	CA432024422	AGXT	c.759T>C (p.Cys253=) n.411T>C	ClinVar dbSNP gnomAD v4
2	g.240875187T>G	CA351318236	AGXT	c.759T>G (p.Cys253Trp) n.411T>G
2	g.240875188G>A	CA351318237	AGXT	c.760G>A (p.Asp254Asn) n.412G>A	dbSNP gnomAD v3 gnomAD v4
2	g.240875188G>C	CA351318238	AGXT	c.760G>C (p.Asp254His) n.412G>C
2	g.240875188G=	CA1339334209	AGXT	c.760G= (p.Asp254=) n.412G=
2	g.240875188G>T	CA351318239	AGXT	c.760G>T (p.Asp254Tyr) n.412G>T
2	g.240875188_240875189insT	CA2697550618	AGXT	c.760_761insT (p.Asp254ValfsTer?) n.412_413insT	ClinVar
2	g.240875189A=	CA1339334210	AGXT	c.761A= (p.Asp254=) n.413A=
2	g.240875189A>C	CA351318242	AGXT	c.761A>C (p.Asp254Ala) n.413A>C	dbSNP
2	g.240875189A>G	CA351318241	AGXT	c.761A>G (p.Asp254Gly) n.413A>G
2	g.240875189A>T	CA351318240	AGXT	c.761A>T (p.Asp254Val) n.413A>T
2	g.240875190C>A	CA351318243	AGXT	c.762C>A (p.Asp254Glu) n.414C>A
2	g.240875190C=	CA1339334211	AGXT	c.762C= (p.Asp254=) n.414C=
2	g.240875190C>G	CA351318244	AGXT	c.762C>G (p.Asp254Glu) n.414C>G
2	g.240875190C>T	CA2209228	AGXT	c.762C>T (p.Asp254=) n.414C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875191G>A	CA2209229	AGXT	c.763G>A (p.Asp255Asn) n.415G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875191G>C	CA351318245	AGXT	c.763G>C (p.Asp255His) n.415G>C
2	g.240875191G=	CA1339334212	AGXT	c.763G= (p.Asp255=) n.415G=
2	g.240875191G>T	CA351318246	AGXT	c.763G>T (p.Asp255Tyr) n.415G>T	gnomAD v4
2	g.240875192A>C	CA351318247	AGXT	c.764A>C (p.Asp255Ala) n.416A>C
2	g.240875192A>G	CA351318248	AGXT	c.764A>G (p.Asp255Gly) n.416A>G	gnomAD v4
2	g.240875192A>T	CA351318249	AGXT	c.764A>T (p.Asp255Val) n.416A>T
2	g.240875193C>A	CA351318250	AGXT	c.765C>A (p.Asp255Glu) n.417C>A
2	g.240875193C=	CA1339334213	AGXT	c.765C= (p.Asp255=) n.417C=
2	g.240875193C>G	CA351318251	AGXT	c.765C>G (p.Asp255Glu) n.417C>G
2	g.240875193C>T	CA432024426	AGXT	c.765C>T (p.Asp255=) n.417C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240875194del	CA2586971641	AGXT	c.766del (p.Gln256SerfsTer17) n.418del	ClinVar
2	g.240875194C>A	CA351318252	AGXT	c.766C>A (p.Gln256Lys) n.418C>A
2	g.240875194C>G	CA351318253	AGXT	c.766C>G (p.Gln256Glu) n.418C>G
2	g.240875194C>T	CA351318254	AGXT	c.766C>T (p.Gln256Ter) n.418C>T
2	g.240875195A>C	CA351318257	AGXT	c.767A>C (p.Gln256Pro) n.419A>C
2	g.240875195A>G	CA351318256	AGXT	c.767A>G (p.Gln256Arg) n.419A>G
2	g.240875195A>T	CA351318255	AGXT	c.767A>T (p.Gln256Leu) n.419A>T
2	g.240875196G>A	CA432024429	AGXT	c.768G>A (p.Gln256=) n.420G>A
2	g.240875196G>C	CA351318258	AGXT	c.768G>C (p.Gln256His) n.420G>C
2	g.240875196G>T	CA351318259	AGXT	c.768G>T (p.Gln256His) n.420G>T	gnomAD v4
2	g.240875197C>A	CA351318260	AGXT	c.769C>A (p.Pro257Thr) n.421C>A
2	g.240875197C>G	CA351318261	AGXT	c.769C>G (p.Pro257Ala) n.421C>G
2	g.240875197C>T	CA351318262	AGXT	c.769C>T (p.Pro257Ser) n.421C>T
2	g.240875198C>A	CA2209230	AGXT	c.770C>A (p.Pro257His) n.422C>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875198C=	CA1339334214	AGXT	c.770C= (p.Pro257=) n.422C=
2	g.240875198C>G	CA351318263	AGXT	c.770C>G (p.Pro257Arg) n.422C>G
2	g.240875198C>T	CA351318264	AGXT	c.770C>T (p.Pro257Leu) n.422C>T	dbSNP
2	g.240875199C>A	CA432024432	AGXT	c.771C>A (p.Pro257=) n.423C>A	ClinVar
2	g.240875199C=	CA1339334215	AGXT	c.771C= (p.Pro257=) n.423C=
2	g.240875199C>G	CA432024433	AGXT	c.771C>G (p.Pro257=) n.423C>G	dbSNP gnomAD v2 gnomAD v4
2	g.240875199C>T	CA432024434	AGXT	c.771C>T (p.Pro257=) n.423C>T	gnomAD v4
2	g.240875200A>C	CA432024435	AGXT	c.772A>C (p.Arg258=) n.424A>C
2	g.240875200A>G	CA351318265	AGXT	c.772A>G (p.Arg258Gly) n.424A>G	gnomAD v4
2	g.240875200A>T	CA351318266	AGXT	c.772A>T (p.Arg258Trp) n.424A>T
2	g.240875201G>A	CA351318267	AGXT	c.773G>A (p.Arg258Lys) n.425G>A
2	g.240875201G>C	CA351318268	AGXT	c.773G>C (p.Arg258Thr) n.425G>C	gnomAD v4
2	g.240875201G>T	CA351318269	AGXT	c.773G>T (p.Arg258Met) n.425G>T
2	g.240875202G>A	CA432024439	AGXT	c.774G>A (p.Arg258=) n.426G>A	ClinVar gnomAD v4 COSMIC
2	g.240875202G>C	CA351318270	AGXT	c.774G>C (p.Arg258Ser) n.426G>C
2	g.240875202G=	CA1339334216	AGXT	c.774G= (p.Arg258=) n.426G=
2	g.240875202G>T	CA2209231	AGXT	c.774G>T (p.Arg258Ser) n.426G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875203A=	CA1339334217	AGXT	c.775A= (p.Met259=) n.427A=
2	g.240875203A>C	CA68179741	AGXT	c.775A>C (p.Met259Leu) n.427A>C	dbSNP gnomAD v4
2	g.240875203A>G	CA351318272	AGXT	c.775A>G (p.Met259Val) n.427A>G
2	g.240875203A>T	CA351318271	AGXT	c.775A>T (p.Met259Leu) n.427A>T
2	g.240875204T>A	CA351318273	AGXT	c.776T>A (p.Met259Lys) n.428T>A
2	g.240875204T>C	CA351318275	AGXT	c.776T>C (p.Met259Thr) n.428T>C	dbSNP gnomAD v4
2	g.240875204T>G	CA351318274	AGXT	c.776T>G (p.Met259Arg) n.428T>G
2	g.240875204T=	CA1339334218	AGXT	c.776T= (p.Met259=) n.428T=
2	g.240875205G>A	CA275797	AGXT	c.776+1G>A (n.776+1G>A) n.428+1G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240875205G>C	CA275798	AGXT	c.776+1G>C (n.776+1G>C) n.428+1G>C	ClinVar dbSNP gnomAD v4
2	g.240875205G=	CA1339334219	AGXT	c.776+1G= (n.776+1G=) n.428+1G=
2	g.240875205G>T	CA351318276	AGXT	c.776+1G>T (n.776+1G>T) n.428+1G>T
2	g.240875206T>A	CA351318277	AGXT	c.776+2T>A (n.776+2T>A) n.428+2T>A
2	g.240875206T>C	CA351318279	AGXT	c.776+2T>C (n.776+2T>C) n.428+2T>C
2	g.240875206T>G	CA351318278	AGXT	c.776+2T>G (n.776+2T>G) n.428+2T>G	ClinVar dbSNP gnomAD v4
2	g.240875206T=	CA1339334220	AGXT	c.776+2T= (n.776+2T=) n.428+2T=
2	g.240875207del	CA2577302677	AGXT	c.776+3del (n.776+3del) n.428+3del	ClinVar
2	g.240875209G=	CA1339334221	AGXT	c.776+5G= (n.776+5G=) n.428+5G=
2	g.240875209G>T	CA2209232	AGXT	c.776+5G>T (n.776+5G>T) n.428+5G>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875210G>A	CA2664009078	AGXT	c.776+6G>A (n.776+6G>A) n.428+6G>A	gnomAD v4
2	g.240875211C>A	CA2580068038	AGXT	c.776+7C>A (n.776+7C>A) n.428+7C>A	ClinVar
2	g.240875212C>T	CA2577302678	AGXT	c.776+8C>T (n.776+8C>T) n.428+8C>T
2	g.240875214G>T	CA2664009079	AGXT	c.776+10G>T (n.776+10G>T) n.428+10G>T	gnomAD v4
2	g.240875215G>A	CA68179746	AGXT	c.776+11G>A (n.776+11G>A) n.428+11G>A	dbSNP
2	g.240875215G=	CA1339334222	AGXT	c.776+11G= (n.776+11G=) n.428+11G=
2	g.240875215G>T	CA540536936	AGXT	c.776+11G>T (n.776+11G>T) n.428+11G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875216C>A	CA766965078	AGXT	c.776+12C>A (n.776+12C>A) n.428+12C>A	dbSNP gnomAD v4
2	g.240875216C=	CA1339334223	AGXT	c.776+12C= (n.776+12C=) n.428+12C=
2	g.240875216C>G	CA2664009080	AGXT	c.776+12C>G (n.776+12C>G) n.428+12C>G	gnomAD v4
2	g.240875216C>T	CA2664009081	AGXT	c.776+12C>T (n.776+12C>T) n.428+12C>T	gnomAD v4
2	g.240875218G>A	CA2664009082	AGXT	c.776+14G>A (n.776+14G>A) n.428+14G>A	gnomAD v4
2	g.240875219G>A	CA2664009083	AGXT	c.776+15G>A (n.776+15G>A) n.428+15G>A	ClinVar gnomAD v4
2	g.240875220G>A	CA540536939	AGXT	c.776+16G>A (n.776+16G>A) n.428+16G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875220G=	CA1339334224	AGXT	c.776+16G= (n.776+16G=) n.428+16G=
2	g.240875222T>C	CA2664009084	AGXT	c.776+18T>C (n.776+18T>C) n.428+18T>C	gnomAD v4
2	g.240875222_240875223delinsTG	CA1339334225	AGXT	c.776+18_776+19delinsTG (n.776+18_776+19delinsTG) n.428+18_428+19delinsTG
2	g.240875223G>A	CA2577302679	AGXT	c.776+19G>A (n.776+19G>A) n.428+19G>A
2	g.240875225del	CA2209233	AGXT	c.776+21del (n.776+21del) n.428+21del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875224G>A	CA540536945	AGXT	c.776+20G>A (n.776+20G>A) n.428+20G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240875224G=	CA1339334226	AGXT	c.776+20G= (n.776+20G=) n.428+20G=
2	g.240875225G>C	CA2577302680	AGXT	c.776+21G>C (n.776+21G>C) n.428+21G>C
2	g.240875226A=	CA1339334227	AGXT	c.776+22A= (n.776+22A=) n.428+22A=
2	g.240875226A>T	CA1339334228	AGXT	c.776+22A>T (n.776+22A>T) n.428+22A>T	dbSNP
2	g.240875227del	CA2664009085	AGXT	c.776+23del (n.776+23del) n.428+23del	gnomAD v4
2	g.240875227A=	CA1339334229	AGXT	c.776+23A= (n.776+23A=) n.428+23A=
2	g.240875227A>G	CA540536947	AGXT	c.776+23A>G (n.776+23A>G) n.428+23A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875228G>A	CA2664009086	AGXT	c.776+24G>A (n.776+24G>A) n.428+24G>A	gnomAD v4
2	g.240875229G>A	CA2664009087	AGXT	c.776+25G>A (n.776+25G>A) n.428+25G>A	gnomAD v4
2	g.240875230T>G	CA1339334231	AGXT	c.776+26T>G (n.776+26T>G) n.428+26T>G	dbSNP
2	g.240875230T=	CA1339334230	AGXT	c.776+26T= (n.776+26T=) n.428+26T=
2	g.240875231G>A	CA1339334234	AGXT	c.776+27G>A (n.776+27G>A) n.428+27G>A	dbSNP gnomAD v4
2	g.240875231G=	CA1339334233	AGXT	c.776+27G= (n.776+27G=) n.428+27G=
2	g.240875231G>T	CA1339334232	AGXT	c.776+27G>T (n.776+27G>T) n.428+27G>T	dbSNP gnomAD v4
2	g.240875232G>A	CA2209234	AGXT	c.776+28G>A (n.776+28G>A) n.428+28G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875232G>C	CA540536948	AGXT	c.776+28G>C (n.776+28G>C) n.428+28G>C	dbSNP gnomAD v2 gnomAD v4
2	g.240875232G=	CA1339334235	AGXT	c.776+28G= (n.776+28G=) n.428+28G=
2	g.240875232G>T	CA2664009088	AGXT	c.776+28G>T (n.776+28G>T) n.428+28G>T	gnomAD v4
2	g.240875233A>G	CA2664009089	AGXT	c.776+29A>G (n.776+29A>G) n.428+29A>G	gnomAD v4
2	g.240875234G>A	CA2664009090	AGXT	c.776+30G>A (n.776+30G>A) n.428+30G>A	gnomAD v4
2	g.240875234G>T	CA2577302681	AGXT	c.776+30G>T (n.776+30G>T) n.428+30G>T	gnomAD v4
2	g.240875236G>A	CA1044068949	AGXT	c.776+32G>A (n.776+32G>A) n.428+32G>A	dbSNP gnomAD v3 gnomAD v4
2	g.240875236G=	CA1339334236	AGXT	c.776+32G= (n.776+32G=) n.428+32G=
2	g.240875237C>A	CA2664009091	AGXT	c.776+33C>A (n.776+33C>A) n.428+33C>A	gnomAD v4
2	g.240875237C=	CA1339334237	AGXT	c.776+33C= (n.776+33C=) n.428+33C=
2	g.240875237C>T	CA68179750	AGXT	c.776+33C>T (n.776+33C>T) n.428+33C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875238G>A	CA2209236	AGXT	c.776+34G>A (n.776+34G>A) n.428+34G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875238G>C	CA2209237	AGXT	c.776+34G>C (n.776+34G>C) n.428+34G>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875238G=	CA1339334238	AGXT	c.776+34G= (n.776+34G=) n.428+34G=
2	g.240875238G>T	CA2209235	AGXT	c.776+34G>T (n.776+34G>T) n.428+34G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875240T>A	CA2577302682	AGXT	c.776+36T>A (n.776+36T>A) n.428+36T>A
2	g.240875241G>A	CA540536957	AGXT	c.776+37G>A (n.776+37G>A) n.428+37G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875241G=	CA1339334239	AGXT	c.776+37G= (n.776+37G=) n.428+37G=
2	g.240875242G>A	CA766965093	AGXT	c.776+38G>A (n.776+38G>A) n.428+38G>A	dbSNP gnomAD v3 gnomAD v4
2	g.240875242G=	CA1339334240	AGXT	c.776+38G= (n.776+38G=) n.428+38G=
2	g.240875243G>A	CA766965095	AGXT	c.776+39G>A (n.776+39G>A) n.428+39G>A	dbSNP gnomAD v4
2	g.240875243G=	CA1339334241	AGXT	c.776+39G= (n.776+39G=) n.428+39G=
2	g.240875244C>A	CA2664009092	AGXT	c.776+40C>A (n.776+40C>A) n.428+40C>A	gnomAD v4
2	g.240875245A=	CA1339334242	AGXT	c.776+41A= (n.776+41A=) n.428+41A=
2	g.240875245A>G	CA2209238	AGXT	c.776+41A>G (n.776+41A>G) n.428+41A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875245A>T	CA2664009093	AGXT	c.776+41A>T (n.776+41A>T) n.428+41A>T	gnomAD v4
2	g.240875246T>C	CA2664009094	AGXT	c.776+42T>C (n.776+42T>C) n.428+42T>C	gnomAD v4
2	g.240875247G>A	CA68179757	AGXT	c.776+43G>A (n.776+43G>A) n.428+43G>A	dbSNP gnomAD v4
2	g.240875247G=	CA1339334243	AGXT	c.776+43G= (n.776+43G=) n.428+43G=
2	g.240875249C>A	CA2577302683	AGXT	c.776+45C>A (n.776+45C>A) n.428+45C>A	gnomAD v4
2	g.240875250T>G	CA2209239	AGXT	c.776+46T>G (n.776+46T>G) n.428+46T>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875250T=	CA1339334244	AGXT	c.776+46T= (n.776+46T=) n.428+46T=
2	g.240875251G>A	CA2577302684	AGXT	c.776+47G>A (n.776+47G>A) n.428+47G>A	gnomAD v4
2	g.240875253G>A	CA2209240	AGXT	c.776+49G>A (n.776+49G>A) n.428+49G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875253G=	CA1339334245	AGXT	c.776+49G= (n.776+49G=) n.428+49G=
2	g.240875257_240875267del	CA2664009095	AGXT	c.776+53_776+63del (n.776+53_776+63del) n.428+53_428+63del	gnomAD v4
2	g.240875256G>A	CA540536960	AGXT	c.776+52G>A (n.776+52G>A) n.428+52G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875256G=	CA1339334246	AGXT	c.776+52G= (n.776+52G=) n.428+52G=
2	g.240875257T>C	CA2664009096	AGXT	c.776+53T>C (n.776+53T>C) n.428+53T>C	gnomAD v4
2	g.240875257T>G	CA1339334247	AGXT	c.776+53T>G (n.776+53T>G) n.428+53T>G	dbSNP
2	g.240875257T=	CA1339334248	AGXT	c.776+53T= (n.776+53T=) n.428+53T=
2	g.240875257_240875258delinsTG	CA1339334249	AGXT	c.776+53_776+54delinsTG (n.776+53_776+54delinsTG) n.428+53_428+54delinsTG
2	g.240875258G>A	CA2577302685	AGXT	c.776+54G>A (n.776+54G>A) n.428+54G>A
2	g.240875261del	CA766965101	AGXT	c.776+57del (n.776+57del) n.428+57del	dbSNP gnomAD v3 gnomAD v4
2	g.240875259G>A	CA2664009097	AGXT	c.776+55G>A (n.776+55G>A) n.428+55G>A	gnomAD v4

Number of alleles fetched