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.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
2	g.240875059C=	CA1339334133	AGXT	c.681-50C= (n.681-50C=) n.333-50C=
2	g.240875059C>T	CA2664008756	AGXT	c.681-50C>T (n.681-50C>T) n.333-50C>T	gnomAD v4
2	g.240875060T>C	CA2664008759	AGXT	c.681-49T>C (n.681-49T>C) n.333-49T>C	gnomAD v4
2	g.240875062C>A	CA2577302668	AGXT	c.681-47C>A (n.681-47C>A) n.333-47C>A
2	g.240875062C=	CA1339334135	AGXT	c.681-47C= (n.681-47C=) n.333-47C=
2	g.240875062C>T	CA1339334136	AGXT	c.681-47C>T (n.681-47C>T) n.333-47C>T	dbSNP
2	g.240875063A=	CA1339334137	AGXT	c.681-46A= (n.681-46A=) n.333-46A=
2	g.240875063A>G	CA2209198	AGXT	c.681-46A>G (n.681-46A>G) n.333-46A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875064G>A	CA2664008763	AGXT	c.681-45G>A (n.681-45G>A) n.333-45G>A	gnomAD v4
2	g.240875065C>A	CA2577302669	AGXT	c.681-44C>A (n.681-44C>A) n.333-44C>A	gnomAD v4
2	g.240875068A=	CA1339334138	AGXT	c.681-41A= (n.681-41A=) n.333-41A=
2	g.240875068A>T	CA2209199	AGXT	c.681-41A>T (n.681-41A>T) n.333-41A>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875069A=	CA1339334139	AGXT	c.681-40A= (n.681-40A=) n.333-40A=
2	g.240875069A>T	CA1339334140	AGXT	c.681-40A>T (n.681-40A>T) n.333-40A>T	dbSNP gnomAD v4
2	g.240875070A=	CA1339334141	AGXT	c.681-39A= (n.681-39A=) n.333-39A=
2	g.240875070A>G	CA2209200	AGXT	c.681-39A>G (n.681-39A>G) n.333-39A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875071C=	CA1339334142	AGXT	c.681-38C= (n.681-38C=) n.333-38C=
2	g.240875071C>G	CA2754892322	AGXT	c.681-38C>G (n.681-38C>G) n.333-38C>G
2	g.240875071C>T	CA540536863	AGXT	c.681-38C>T (n.681-38C>T) n.333-38C>T	dbSNP gnomAD v2 gnomAD v4
2	g.240875072T>A	CA2209201	AGXT	c.681-37T>A (n.681-37T>A) n.333-37T>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875072T>G	CA2577302670	AGXT	c.681-37T>G (n.681-37T>G) n.333-37T>G	gnomAD v4
2	g.240875072T=	CA1339334143	AGXT	c.681-37T= (n.681-37T=) n.333-37T=
2	g.240875073G>C	CA1339334144	AGXT	c.681-36G>C (n.681-36G>C) n.333-36G>C	dbSNP gnomAD v4
2	g.240875073G=	CA1339334145	AGXT	c.681-36G= (n.681-36G=) n.333-36G=
2	g.240875073G>T	CA2664008814	AGXT	c.681-36G>T (n.681-36G>T) n.333-36G>T	gnomAD v4
2	g.240875075G>A	CA540536867	AGXT	c.681-34G>A (n.681-34G>A) n.333-34G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240875075G=	CA1339334146	AGXT	c.681-34G= (n.681-34G=) n.333-34G=
2	g.240875076A>G	CA2577302671	AGXT	c.681-33A>G (n.681-33A>G) n.333-33A>G
2	g.240875077G>A	CA2664008817	AGXT	c.681-32G>A (n.681-32G>A) n.333-32G>A	gnomAD v4
2	g.240875079C>T	CA2664008818	AGXT	c.681-30C>T (n.681-30C>T) n.333-30C>T	gnomAD v4
2	g.240875080T>C	CA2664008819	AGXT	c.681-29T>C (n.681-29T>C) n.333-29T>C	gnomAD v4
2	g.240875082G>A	CA68179674	AGXT	c.681-27G>A (n.681-27G>A) n.333-27G>A	dbSNP
2	g.240875082G>C	CA2664008821	AGXT	c.681-27G>C (n.681-27G>C) n.333-27G>C	gnomAD v4
2	g.240875082G=	CA1339334147	AGXT	c.681-27G= (n.681-27G=) n.333-27G=
2	g.240875083T>C	CA2664008827	AGXT	c.681-26T>C (n.681-26T>C) n.333-26T>C	gnomAD v4
2	g.240875083T>G	CA2209202	AGXT	c.681-26T>G (n.681-26T>G) n.333-26T>G	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.240875083T=	CA1339334148	AGXT	c.681-26T= (n.681-26T=) n.333-26T=
2	g.240875085C=	CA1339334149	AGXT	c.681-24C= (n.681-24C=) n.333-24C=
2	g.240875085C>G	CA2209203	AGXT	c.681-24C>G (n.681-24C>G) n.333-24C>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875085C>T	CA68179679	AGXT	c.681-24C>T (n.681-24C>T) n.333-24C>T	dbSNP gnomAD v4
2	g.240875087C>A	CA2577302672	AGXT	c.681-22C>A (n.681-22C>A) n.333-22C>A	gnomAD v4
2	g.240875089G>A	CA2697550617	AGXT	c.681-20G>A (n.681-20G>A) n.333-20G>A	ClinVar
2	g.240875089G>C	CA2739279215	AGXT	c.681-20G>C (n.681-20G>C) n.333-20G>C	ClinVar
2	g.240875090C>A	CA2664008838	AGXT	c.681-19C>A (n.681-19C>A) n.333-19C>A	gnomAD v4
2	g.240875091C=	CA1339334150	AGXT	c.681-18C= (n.681-18C=) n.333-18C=
2	g.240875091C>G	CA68179682	AGXT	c.681-18C>G (n.681-18C>G) n.333-18C>G	dbSNP gnomAD v4
2	g.240875091C>T	CA1339334151	AGXT	c.681-18C>T (n.681-18C>T) n.333-18C>T	ClinVar dbSNP
2	g.240875092T>A	CA2577302673	AGXT	c.681-17T>A (n.681-17T>A) n.333-17T>A
2	g.240875092T>C	CA2664008841	AGXT	c.681-17T>C (n.681-17T>C) n.333-17T>C	gnomAD v4
2	g.240875093G>A	CA2209204	AGXT	c.681-16G>A (n.681-16G>A) n.333-16G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875093G>C	CA2664008845	AGXT	c.681-16G>C (n.681-16G>C) n.333-16G>C	gnomAD v4
2	g.240875093G=	CA1339334152	AGXT	c.681-16G= (n.681-16G=) n.333-16G=
2	g.240875094C>A	CA2664008848	AGXT	c.681-15C>A (n.681-15C>A) n.333-15C>A	gnomAD v4
2	g.240875094C=	CA1339334153	AGXT	c.681-15C= (n.681-15C=) n.333-15C=
2	g.240875094C>T	CA1339334154	AGXT	c.681-15C>T (n.681-15C>T) n.333-15C>T	dbSNP
2	g.240875095T>C	CA2664008850	AGXT	c.681-14T>C (n.681-14T>C) n.333-14T>C	gnomAD v4
2	g.240875096T>C	CA2664008852	AGXT	c.681-13T>C (n.681-13T>C) n.333-13T>C	ClinVar gnomAD v4
2	g.240875096T>G	CA540536868	AGXT	c.681-13T>G (n.681-13T>G) n.333-13T>G	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240875096T=	CA1339334155	AGXT	c.681-13T= (n.681-13T=) n.333-13T=
2	g.240875097C>A	CA540536869	AGXT	c.681-12C>A (n.681-12C>A) n.333-12C>A	dbSNP gnomAD v2 gnomAD v4
2	g.240875097C=	CA1339334156	AGXT	c.681-12C= (n.681-12C=) n.333-12C=
2	g.240875098T>C	CA2664008862	AGXT	c.681-11T>C (n.681-11T>C) n.333-11T>C	gnomAD v4
2	g.240875100del	CA2664008859	AGXT	c.681-9del (n.681-9del) n.333-9del	gnomAD v4
2	g.240875099T>A	CA2664008863	AGXT	c.681-10T>A (n.681-10T>A) n.333-10T>A	gnomAD v4
2	g.240875100T=	CA1339334157	AGXT	c.681-9T= (n.681-9T=) n.333-9T=
2	g.240875101C>T	CA2573135691	AGXT	c.681-8C>T (n.681-8C>T) n.333-8C>T	ClinVar dbSNP
2	g.240875101_240875148dup	CA540536870	AGXT	c.681-8_720dup n.333-8_372dup	dbSNP gnomAD v2 gnomAD v4
2	g.240875102_240875103delinsTC	CA1339334158	AGXT	c.681-7_681-6delinsTC (n.681-7_681-6delinsTC) n.333-7_333-6delinsTC
2	g.240875103C>T	CA2664008879	AGXT	c.681-6C>T (n.681-6C>T) n.333-6C>T	gnomAD v4
2	g.240875106del	CA1339334159	AGXT	c.681-3del (n.681-3del) n.333-3del	dbSNP gnomAD v4
2	g.240875105C>A	CA2577302674	AGXT	c.681-4C>A (n.681-4C>A) n.333-4C>A	gnomAD v4
2	g.240875105C=	CA1339334160	AGXT	c.681-4C= (n.681-4C=) n.333-4C=
2	g.240875105C>G	CA1339334161	AGXT	c.681-4C>G (n.681-4C>G) n.333-4C>G	dbSNP
2	g.240875105C>T	CA540536874	AGXT	c.681-4C>T (n.681-4C>T) n.333-4C>T	dbSNP gnomAD v2 gnomAD v4
2	g.240875106C>A	CA2664008894	AGXT	c.681-3C>A (n.681-3C>A) n.333-3C>A	gnomAD v4
2	g.240875106C=	CA1339334162	AGXT	c.681-3C= (n.681-3C=) n.333-3C=
2	g.240875106C>G	CA2209205	AGXT	c.681-3C>G (n.681-3C>G) n.333-3C>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875107A>C	CA351317846	AGXT	c.681-2A>C (n.681-2A>C) n.333-2A>C	gnomAD v4
2	g.240875107A>G	CA351317849	AGXT	c.681-2A>G (n.681-2A>G) n.333-2A>G
2	g.240875107A>T	CA351317852	AGXT	c.681-2A>T (n.681-2A>T) n.333-2A>T
2	g.240875108G>A	CA2209207	AGXT	c.681-1G>A (n.681-1G>A) n.333-1G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875108G>C	CA68179687	AGXT	c.681-1G>C (n.681-1G>C) n.333-1G>C	dbSNP
2	g.240875108G=	CA1339334163	AGXT	c.681-1G= (n.681-1G=) n.333-1G=
2	g.240875108G>T	CA2209206	AGXT	c.681-1G>T (n.681-1G>T) n.333-1G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875109A>C	CA351317862	AGXT	c.681A>C (p.Lys227Asn) n.333A>C
2	g.240875109A>G	CA432024361	AGXT	c.681A>G (p.Lys227=) n.333A>G
2	g.240875109A>T	CA351317858	AGXT	c.681A>T (p.Lys227Asn) n.333A>T
2	g.240875111dup	CA913090178	AGXT	c.683dup (p.Lys229GlufsTer26) n.335dup
2	g.240875110_240875111del	CA2695197715	AGXT	c.682_683del (p.Lys228GlufsTer26) n.334_335del	ClinVar
2	g.240875109_240875112delinsAAAG	CA1339334164	AGXT	c.681_684delinsAAAG (p.Lys227=) n.333_336delinsAAAG
2	g.240875110A>C	CA351317864	AGXT	c.682A>C (p.Lys228Gln) n.334A>C	COSMIC
2	g.240875110A>G	CA351317865	AGXT	c.682A>G (p.Lys228Glu) n.334A>G
2	g.240875110A>T	CA351317866	AGXT	c.682A>T (p.Lys228Ter) n.334A>T	COSMIC
2	g.240875114_240875116dup	CA658821246	AGXT	c.686_688dup (p.Lys229_Met230insLys) n.338_340dup	ClinVar dbSNP
2	g.240875114_240875116del	CA915941796	AGXT	c.686_688del (p.Lys229del) n.338_340del	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.240875111A=	CA1339334165	AGXT	c.683A= (p.Lys228=) n.335A=
2	g.240875111A>C	CA351317867	AGXT	c.683A>C (p.Lys228Thr) n.335A>C
2	g.240875111A>G	CA351317868	AGXT	c.683A>G (p.Lys228Arg) n.335A>G	dbSNP
2	g.240875111A>T	CA2209208	AGXT	c.683A>T (p.Lys228Met) n.335A>T	dbSNP ExAC gnomAD v4
2	g.240875112G>A	CA432024365	AGXT	c.684G>A (p.Lys228=) n.336G>A
2	g.240875112G>C	CA351317869	AGXT	c.684G>C (p.Lys228Asn) n.336G>C
2	g.240875112G>T	CA351317871	AGXT	c.684G>T (p.Lys228Asn) n.336G>T
2	g.240875113A>C	CA351317872	AGXT	c.685A>C (p.Lys229Gln) n.337A>C
2	g.240875113A>G	CA351317874	AGXT	c.685A>G (p.Lys229Glu) n.337A>G	gnomAD v4
2	g.240875113A>T	CA351317877	AGXT	c.685A>T (p.Lys229Ter) n.337A>T
2	g.240875114A>C	CA351317879	AGXT	c.686A>C (p.Lys229Thr) n.338A>C
2	g.240875114A>G	CA351317882	AGXT	c.686A>G (p.Lys229Arg) n.338A>G
2	g.240875114A>T	CA351317884	AGXT	c.686A>T (p.Lys229Met) n.338A>T
2	g.240875115G>A	CA432024367	AGXT	c.687G>A (p.Lys229=) n.339G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.240875115G>C	CA351317887	AGXT	c.687G>C (p.Lys229Asn) n.339G>C
2	g.240875115G=	CA1339334166	AGXT	c.687G= (p.Lys229=) n.339G=
2	g.240875115G>T	CA2209209	AGXT	c.687G>T (p.Lys229Asn) n.339G>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875117_240875134del	CA2577302675	AGXT	c.689_706del (p.Met230_Thr235del) n.341_358del
2	g.240875116A=	CA1339334167	AGXT	c.688A= (p.Met230=) n.340A=
2	g.240875116A>C	CA351317897	AGXT	c.688A>C (p.Met230Leu) n.340A>C
2	g.240875116A>G	CA351317904	AGXT	c.688A>G (p.Met230Val) n.340A>G	dbSNP gnomAD v4
2	g.240875116A>T	CA351317901	AGXT	c.688A>T (p.Met230Leu) n.340A>T
2	g.240875117T>A	CA351317907	AGXT	c.689T>A (p.Met230Lys) n.341T>A
2	g.240875117T>C	CA2209210	AGXT	c.689T>C (p.Met230Thr) n.341T>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875117T>G	CA351317911	AGXT	c.689T>G (p.Met230Arg) n.341T>G	dbSNP gnomAD v2 gnomAD v4
2	g.240875117T=	CA1339334168	AGXT	c.689T= (p.Met230=) n.341T=
2	g.240875118G>A	CA351317917	AGXT	c.690G>A (p.Met230Ile) n.342G>A	gnomAD v4
2	g.240875118G>C	CA351317920	AGXT	c.690G>C (p.Met230Ile) n.342G>C
2	g.240875118G>T	CA351317924	AGXT	c.690G>T (p.Met230Ile) n.342G>T
2	g.240875119T>A	CA351317926	AGXT	c.691T>A (p.Tyr231Asn) n.343T>A
2	g.240875119T>C	CA351317930	AGXT	c.691T>C (p.Tyr231His) n.343T>C
2	g.240875119T>G	CA351317931	AGXT	c.691T>G (p.Tyr231Asp) n.343T>G
2	g.240875120A>C	CA351317932	AGXT	c.692A>C (p.Tyr231Ser) n.344A>C
2	g.240875120A>G	CA351317933	AGXT	c.692A>G (p.Tyr231Cys) n.344A>G
2	g.240875120A>T	CA351317935	AGXT	c.692A>T (p.Tyr231Phe) n.344A>T
2	g.240875121C>A	CA351317946	AGXT	c.693C>A (p.Tyr231Ter) n.345C>A
2	g.240875121C=	CA1339334169	AGXT	c.693C= (p.Tyr231=) n.345C=
2	g.240875121C>G	CA351317951	AGXT	c.693C>G (p.Tyr231Ter) n.345C>G	ClinVar
2	g.240875121C>T	CA432024372	AGXT	c.693C>T (p.Tyr231=) n.345C>T	dbSNP gnomAD v2 gnomAD v4
2	g.240875122T>A	CA351317958	AGXT	c.694T>A (p.Ser232Thr) n.346T>A
2	g.240875122T>C	CA351317960	AGXT	c.694T>C (p.Ser232Pro) n.346T>C	dbSNP gnomAD v4
2	g.240875122T>G	CA351317962	AGXT	c.694T>G (p.Ser232Ala) n.346T>G	gnomAD v4
2	g.240875122T=	CA1339334170	AGXT	c.694T= (p.Ser232=) n.346T=
2	g.240875123C>A	CA351317976	AGXT	c.695C>A (p.Ser232Tyr) n.347C>A
2	g.240875123C=	CA1339334171	AGXT	c.695C= (p.Ser232=) n.347C=
2	g.240875123C>G	CA351317978	AGXT	c.695C>G (p.Ser232Cys) n.347C>G	dbSNP
2	g.240875123C>T	CA351317981	AGXT	c.695C>T (p.Ser232Phe) n.347C>T
2	g.240875124C>A	CA432024374	AGXT	c.696C>A (p.Ser232=) n.348C>A
2	g.240875124C>G	CA432024375	AGXT	c.696C>G (p.Ser232=) n.348C>G	ClinVar
2	g.240875124C>T	CA432024376	AGXT	c.696C>T (p.Ser232=) n.348C>T
2	g.240875125C>A	CA351317985	AGXT	c.697C>A (p.Arg233Ser) n.349C>A	gnomAD v4
2	g.240875125C=	CA1339334172	AGXT	c.697C= (p.Arg233=) n.349C=
2	g.240875125C>G	CA351317989	AGXT	c.697C>G (p.Arg233Gly) n.349C>G
2	g.240875125C>T	CA340446	AGXT	c.697C>T (p.Arg233Cys) n.349C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875126G>A	CA253545	AGXT	c.698G>A (p.Arg233His) n.350G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875126G>C	CA2209211	AGXT	c.698G>C (p.Arg233Pro) n.350G>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240875126G=	CA1339334173	AGXT	c.698G= (p.Arg233=) n.350G=
2	g.240875126G>T	CA275732	AGXT	c.698G>T (p.Arg233Leu) n.350G>T	ClinVar dbSNP gnomAD v4 COSMIC
2	g.240875127C>A	CA432024377	AGXT	c.699C>A (p.Arg233=) n.351C>A
2	g.240875127C=	CA1339334174	AGXT	c.699C= (p.Arg233=) n.351C=
2	g.240875127C>G	CA432024378	AGXT	c.699C>G (p.Arg233=) n.351C>G
2	g.240875127C>T	CA432024379	AGXT	c.699C>T (p.Arg233=) n.351C>T	dbSNP gnomAD v3 gnomAD v4
2	g.240875128A>C	CA351318002	AGXT	c.700A>C (p.Lys234Gln) n.352A>C
2	g.240875128A>G	CA351318007	AGXT	c.700A>G (p.Lys234Glu) n.352A>G
2	g.240875128A>T	CA351318005	AGXT	c.700A>T (p.Lys234Ter) n.352A>T
2	g.240875129A=	CA1339334175	AGXT	c.701A= (p.Lys234=) n.353A=
2	g.240875129A>C	CA351318009	AGXT	c.701A>C (p.Lys234Thr) n.353A>C	dbSNP gnomAD v4
2	g.240875129A>G	CA2209212	AGXT	c.701A>G (p.Lys234Arg) n.353A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875129A>T	CA351318012	AGXT	c.701A>T (p.Lys234Met) n.353A>T
2	g.240875130G>A	CA432024381	AGXT	c.702G>A (p.Lys234=) n.354G>A	ClinVar gnomAD v4 COSMIC
2	g.240875130G>C	CA351318017	AGXT	c.702G>C (p.Lys234Asn) n.354G>C
2	g.240875130G=	CA1339334176	AGXT	c.702G= (p.Lys234=) n.354G=
2	g.240875130G>T	CA351318020	AGXT	c.702G>T (p.Lys234Asn) n.354G>T	dbSNP gnomAD v3 gnomAD v4
2	g.240875131A>C	CA351318023	AGXT	c.703A>C (p.Thr235Pro) n.355A>C
2	g.240875131A>G	CA351318025	AGXT	c.703A>G (p.Thr235Ala) n.355A>G
2	g.240875131A>T	CA351318027	AGXT	c.703A>T (p.Thr235Ser) n.355A>T	gnomAD v4
2	g.240875132C>A	CA351318029	AGXT	c.704C>A (p.Thr235Lys) n.356C>A
2	g.240875132C=	CA1339334177	AGXT	c.704C= (p.Thr235=) n.356C=
2	g.240875132C>G	CA351318031	AGXT	c.704C>G (p.Thr235Arg) n.356C>G
2	g.240875132C>T	CA2209213	AGXT	c.704C>T (p.Thr235Met) n.356C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875133G>A	CA275585	AGXT	c.705G>A (p.Thr235=) n.357G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875133G>C	CA432024384	AGXT	c.705G>C (p.Thr235=) n.357G>C
2	g.240875133G=	CA1339334178	AGXT	c.705G= (p.Thr235=) n.357G=
2	g.240875133G>T	CA432024385	AGXT	c.705G>T (p.Thr235=) n.357G>T	gnomAD v4
2	g.240875134A>C	CA351318037	AGXT	c.706A>C (p.Lys236Gln) n.358A>C
2	g.240875134A>G	CA351318038	AGXT	c.706A>G (p.Lys236Glu) n.358A>G
2	g.240875134A>T	CA351318041	AGXT	c.706A>T (p.Lys236Ter) n.358A>T	ClinVar
2	g.240875135A>C	CA351318043	AGXT	c.707A>C (p.Lys236Thr) n.359A>C
2	g.240875135A>G	CA351318047	AGXT	c.707A>G (p.Lys236Arg) n.359A>G
2	g.240875135A>T	CA351318046	AGXT	c.707A>T (p.Lys236Met) n.359A>T
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	ClinVar 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
2	g.240875148C>G	CA351318098	AGXT	c.720C>G (p.Phe240Leu) n.372C>G	gnomAD v4
2	g.240875148C>T	CA432024393	AGXT	c.720C>T (p.Phe240=) n.372C>T
2	g.240875149T>A	CA351318100	AGXT	c.721T>A (p.Tyr241Asn) n.373T>A
2	g.240875149T>C	CA2209219	AGXT	c.721T>C (p.Tyr241His) n.373T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240875149T>G	CA351318099	AGXT	c.721T>G (p.Tyr241Asp) n.373T>G
2	g.240875149T=	CA1339334185	AGXT	c.721T= (p.Tyr241=) n.373T=
2	g.240875150A>C	CA351318101	AGXT	c.722A>C (p.Tyr241Ser) n.374A>C
2	g.240875150A>G	CA351318102	AGXT	c.722A>G (p.Tyr241Cys) n.374A>G
2	g.240875150A>T	CA351318103	AGXT	c.722A>T (p.Tyr241Phe) n.374A>T
2	g.240875151C>A	CA351318104	AGXT	c.723C>A (p.Tyr241Ter) n.375C>A
2	g.240875151C=	CA1339334186	AGXT	c.723C= (p.Tyr241=) n.375C=
2	g.240875151C>G	CA351318114	AGXT	c.723C>G (p.Tyr241Ter) n.375C>G
2	g.240875151C>T	CA68179712	AGXT	c.723C>T (p.Tyr241=) n.375C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240875152C>A	CA351318118	AGXT	c.724C>A (p.Leu242Met) n.376C>A
2	g.240875152C=	CA1339334187	AGXT	c.724C= (p.Leu242=) n.376C=
2	g.240875152C>G	CA351318120	AGXT	c.724C>G (p.Leu242Val) n.376C>G	gnomAD v4
2	g.240875152C>T	CA432024395	AGXT	c.724C>T (p.Leu242=) n.376C>T	ClinVar
2	g.240875153T>A	CA351318122	AGXT	c.725T>A (p.Leu242Gln) n.377T>A
2	g.240875153T>C	CA351318129	AGXT	c.725T>C (p.Leu242Pro) n.377T>C
2	g.240875153T>G	CA351318128	AGXT	c.725T>G (p.Leu242Arg) n.377T>G
2	g.240875153dup	CA275849	AGXT	c.725dup (p.Asp243GlyfsTer12) n.377dup	ClinVar dbSNP

Number of alleles fetched