Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240873993A>C	CA351316805	AGXT	c.611A>C (p.Tyr204Ser) n.332+944A>C
2	g.240873993A>G	CA351316809	AGXT	c.611A>G (p.Tyr204Cys) n.332+944A>G	gnomAD v4
2	g.240873993A>T	CA351316806	AGXT	c.611A>T (p.Tyr204Phe) n.332+944A>T
2	g.240873994C>A	CA275718	AGXT	c.612C>A (p.Tyr204Ter) n.332+945C>A	ClinVar dbSNP gnomAD v4
2	g.240873994C=	CA1339333563	AGXT	c.612C= (p.Tyr204=) n.332+945C=
2	g.240873994C>G	CA351316812	AGXT	c.612C>G (p.Tyr204Ter) n.332+945C>G
2	g.240873994C>T	CA432024119	AGXT	c.612C>T (p.Tyr204=) n.332+945C>T	ClinVar dbSNP gnomAD v4
2	g.240873995T>A	CA351316814	AGXT	c.613T>A (p.Ser205Thr) n.332+946T>A
2	g.240873995T>C	CA340441	AGXT	c.613T>C (p.Ser205Pro) n.332+946T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240873995T>G	CA351316816	AGXT	c.613T>G (p.Ser205Ala) n.332+946T>G
2	g.240873995T=	CA1339333564	AGXT	c.613T= (p.Ser205=) n.332+946T=
2	g.240873996C>A	CA275723	AGXT	c.614C>A (p.Ser205Ter) n.332+947C>A	ClinVar dbSNP
2	g.240873996C=	CA1339333565	AGXT	c.614C= (p.Ser205=) n.332+947C=
2	g.240873996C>G	CA351316819	AGXT	c.614C>G (p.Ser205Trp) n.332+947C>G	dbSNP
2	g.240873996C>T	CA275721	AGXT	c.614C>T (p.Ser205Leu) n.332+947C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.240873997G>A	CA2209173	AGXT	c.615G>A (p.Ser205=) n.332+948G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240873997G>C	CA432024124	AGXT	c.615G>C (p.Ser205=) n.332+948G>C	ClinVar dbSNP gnomAD v2
2	g.240873997G=	CA1339333566	AGXT	c.615G= (p.Ser205=) n.332+948G=
2	g.240873997G>T	CA432024125	AGXT	c.615G>T (p.Ser205=) n.332+948G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240873998G>A	CA351316823	AGXT	c.616G>A (p.Gly206Ser) n.332+949G>A
2	g.240873998G>C	CA351316825	AGXT	c.616G>C (p.Gly206Arg) n.332+949G>C
2	g.240873998G>T	CA351316827	AGXT	c.616G>T (p.Gly206Cys) n.332+949G>T
2	g.240873999G>A	CA351316829	AGXT	c.617G>A (p.Gly206Asp) n.332+950G>A
2	g.240873999G>C	CA351316831	AGXT	c.617G>C (p.Gly206Ala) n.332+950G>C
2	g.240873999G>T	CA351316833	AGXT	c.617G>T (p.Gly206Val) n.332+950G>T
2	g.240874000C>A	CA432024127	AGXT	c.618C>A (p.Gly206=) n.332+951C>A
2	g.240874000C=	CA1339333567	AGXT	c.618C= (p.Gly206=) n.332+951C=
2	g.240874000C>G	CA432024128	AGXT	c.618C>G (p.Gly206=) n.332+951C>G
2	g.240874000C>T	CA432024129	AGXT	c.618C>T (p.Gly206=) n.332+951C>T	dbSNP gnomAD v2 gnomAD v4
2	g.240874001T>A	CA351316834	AGXT	c.619T>A (p.Ser207Thr) n.332+952T>A
2	g.240874001T>C	CA351316839	AGXT	c.619T>C (p.Ser207Pro) n.332+952T>C
2	g.240874001T>G	CA351316837	AGXT	c.619T>G (p.Ser207Ala) n.332+952T>G
2	g.240874002C>A	CA351316841	AGXT	c.620C>A (p.Ser207Tyr) n.332+953C>A
2	g.240874002C>G	CA351316843	AGXT	c.620C>G (p.Ser207Cys) n.332+953C>G
2	g.240874002C>T	CA351316845	AGXT	c.620C>T (p.Ser207Phe) n.332+953C>T
2	g.240874003C>A	CA432024133	AGXT	c.621C>A (p.Ser207=) n.332+954C>A
2	g.240874003C>G	CA432024134	AGXT	c.621C>G (p.Ser207=) n.332+954C>G
2	g.240874003C>T	CA432024136	AGXT	c.621C>T (p.Ser207=) n.332+954C>T
2	g.240874004C>A	CA2209174	AGXT	c.622C>A (p.Gln208Lys) n.332+955C>A	dbSNP ExAC gnomAD v2
2	g.240874004C=	CA1339333568	AGXT	c.622C= (p.Gln208=) n.332+955C=
2	g.240874004C>G	CA351316848	AGXT	c.622C>G (p.Gln208Glu) n.332+955C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874004C>T	CA351316850	AGXT	c.622C>T (p.Gln208Ter) n.332+955C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874005A=	CA1339333569	AGXT	c.623A= (p.Gln208=) n.332+956A=
2	g.240874005A>C	CA351316852	AGXT	c.623A>C (p.Gln208Pro) n.332+956A>C
2	g.240874005A>G	CA2209175	AGXT	c.623A>G (p.Gln208Arg) n.332+956A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874005A>T	CA351316854	AGXT	c.623A>T (p.Gln208Leu) n.332+956A>T
2	g.240874006G>A	CA432024140	AGXT	c.624G>A (p.Gln208=) n.332+957G>A	ClinVar dbSNP
2	g.240874006G>C	CA351316856	AGXT	c.624G>C (p.Gln208His) n.332+957G>C	COSMIC
2	g.240874006G>T	CA351316858	AGXT	c.624G>T (p.Gln208His) n.332+957G>T
2	g.240874007A>C	CA351316861	AGXT	c.625A>C (p.Lys209Gln) n.332+958A>C
2	g.240874007A>G	CA351316865	AGXT	c.625A>G (p.Lys209Glu) n.332+958A>G	gnomAD v4 COSMIC
2	g.240874007A>T	CA351316862	AGXT	c.625A>T (p.Lys209Ter) n.332+958A>T
2	g.240874008del	CA2697550616	AGXT	c.626del (p.Lys209ArgfsTer3) n.332+959del	ClinVar
2	g.240874008A>C	CA351316867	AGXT	c.626A>C (p.Lys209Thr) n.332+959A>C	gnomAD v4
2	g.240874008A>G	CA351316869	AGXT	c.626A>G (p.Lys209Arg) n.332+959A>G	COSMIC
2	g.240874008A>T	CA351316871	AGXT	c.626A>T (p.Lys209Met) n.332+959A>T
2	g.240874009G>A	CA432024144	AGXT	c.627G>A (p.Lys209=) n.332+960G>A	ClinVar COSMIC
2	g.240874009G>C	CA351316873	AGXT	c.627G>C (p.Lys209Asn) n.332+960G>C
2	g.240874009G=	CA1339333570	AGXT	c.627G= (p.Lys209=) n.332+960G=
2	g.240874009G>T	CA351316875	AGXT	c.627G>T (p.Lys209Asn) n.332+960G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240874010G>A	CA351316878	AGXT	c.628G>A (p.Ala210Thr) n.332+961G>A	gnomAD v4
2	g.240874010G>C	CA275726	AGXT	c.628G>C (p.Ala210Pro) n.332+961G>C	ClinVar dbSNP
2	g.240874010G=	CA1339333571	AGXT	c.628G= (p.Ala210=) n.332+961G=
2	g.240874010G>T	CA351316881	AGXT	c.628G>T (p.Ala210Ser) n.332+961G>T
2	g.240874011C>A	CA351316883	AGXT	c.629C>A (p.Ala210Asp) n.332+962C>A
2	g.240874011C>G	CA351316885	AGXT	c.629C>G (p.Ala210Gly) n.332+962C>G
2	g.240874011C>T	CA351316887	AGXT	c.629C>T (p.Ala210Val) n.332+962C>T	gnomAD v4
2	g.240874012C>A	CA432024154	AGXT	c.630C>A (p.Ala210=) n.332+963C>A
2	g.240874012C=	CA1339333572	AGXT	c.630C= (p.Ala210=) n.332+963C=
2	g.240874012C>G	CA432024155	AGXT	c.630C>G (p.Ala210=) n.332+963C>G	gnomAD v4
2	g.240874012C>T	CA432024156	AGXT	c.630C>T (p.Ala210=) n.332+963C>T	ClinVar dbSNP gnomAD v4
2	g.240874013C>A	CA351316889	AGXT	c.631C>A (p.Leu211Met) n.332+964C>A
2	g.240874013C>G	CA351316890	AGXT	c.631C>G (p.Leu211Val) n.332+964C>G
2	g.240874013C>T	CA432024157	AGXT	c.631C>T (p.Leu211=) n.332+964C>T	COSMIC
2	g.240874014T>A	CA351316893	AGXT	c.632T>A (p.Leu211Gln) n.332+965T>A
2	g.240874014T>C	CA351316897	AGXT	c.632T>C (p.Leu211Pro) n.332+965T>C
2	g.240874014T>G	CA351316895	AGXT	c.632T>G (p.Leu211Arg) n.332+965T>G	ClinVar
2	g.240874015G>A	CA432024159	AGXT	c.633G>A (p.Leu211=) n.332+966G>A
2	g.240874015G>C	CA432024160	AGXT	c.633G>C (p.Leu211=) n.332+966G>C
2	g.240874015G>T	CA432024162	AGXT	c.633G>T (p.Leu211=) n.332+966G>T
2	g.240874016A>C	CA351316899	AGXT	c.634A>C (p.Asn212His) n.332+967A>C	gnomAD v4
2	g.240874016A>G	CA351316901	AGXT	c.634A>G (p.Asn212Asp) n.332+967A>G
2	g.240874016A>T	CA351316903	AGXT	c.634A>T (p.Asn212Tyr) n.332+967A>T
2	g.240874017A=	CA1339333573	AGXT	c.635A= (p.Asn212=) n.332+968A=
2	g.240874017A>C	CA351316908	AGXT	c.635A>C (p.Asn212Thr) n.332+968A>C
2	g.240874017A>G	CA2209176	AGXT	c.635A>G (p.Asn212Ser) n.332+968A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874017A>T	CA351316911	AGXT	c.635A>T (p.Asn212Ile) n.332+968A>T
2	g.240874018C>A	CA351316918	AGXT	c.636C>A (p.Asn212Lys) n.332+969C>A	gnomAD v4
2	g.240874018C=	CA1339333574	AGXT	c.636C= (p.Asn212=) n.332+969C=
2	g.240874018C>G	CA351316920	AGXT	c.636C>G (p.Asn212Lys) n.332+969C>G
2	g.240874018C>T	CA2209177	AGXT	c.636C>T (p.Asn212=) n.332+969C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240874019G>A	CA351316926	AGXT	c.637G>A (p.Ala213Thr) n.332+970G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240874019G>C	CA351316924	AGXT	c.637G>C (p.Ala213Pro) n.332+970G>C
2	g.240874019G=	CA1339333575	AGXT	c.637G= (p.Ala213=) n.332+970G=
2	g.240874019G>T	CA351316923	AGXT	c.637G>T (p.Ala213Ser) n.332+970G>T	dbSNP gnomAD v3 gnomAD v4
2	g.240874020C>A	CA351316927	AGXT	c.638C>A (p.Ala213Asp) n.332+971C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874020C=	CA1339333576	AGXT	c.638C= (p.Ala213=) n.332+971C=
2	g.240874020C>G	CA351316928	AGXT	c.638C>G (p.Ala213Gly) n.332+971C>G
2	g.240874020C>T	CA2209178	AGXT	c.638C>T (p.Ala213Val) n.332+971C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240874021C>A	CA432024174	AGXT	c.639C>A (p.Ala213=) n.332+972C>A	gnomAD v4
2	g.240874021C=	CA1339333577	AGXT	c.639C= (p.Ala213=) n.332+972C=
2	g.240874021C>G	CA432024175	AGXT	c.639C>G (p.Ala213=) n.332+972C>G
2	g.240874021C>T	CA2209179	AGXT	c.639C>T (p.Ala213=) n.332+972C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874022C>A	CA351316931	AGXT	c.640C>A (p.Pro214Thr) n.332+973C>A
2	g.240874022C>G	CA351316933	AGXT	c.640C>G (p.Pro214Ala) n.332+973C>G
2	g.240874022C>T	CA351316935	AGXT	c.640C>T (p.Pro214Ser) n.332+973C>T
2	g.240874023C>A	CA351316937	AGXT	c.641C>A (p.Pro214His) n.332+974C>A
2	g.240874023C>G	CA351316939	AGXT	c.641C>G (p.Pro214Arg) n.332+974C>G
2	g.240874023C>T	CA351316941	AGXT	c.641C>T (p.Pro214Leu) n.332+974C>T
2	g.240874023_240874027delinsCTCCA	CA1339333578	AGXT	c.641_645delinsCTCCA (p.Pro214=) n.332+974_332+978delinsCTCCA
2	g.240874024del	CA2573051906	AGXT	c.642del (p.Pro215GlnfsTer?) n.332+975del	ClinVar dbSNP
2	g.240874024T>A	CA432024179	AGXT	c.642T>A (p.Pro214=) n.332+975T>A
2	g.240874024T>C	CA432024180	AGXT	c.642T>C (p.Pro214=) n.332+975T>C
2	g.240874024T>G	CA432024181	AGXT	c.642T>G (p.Pro214=) n.332+975T>G
2	g.240874024_240874027del	CA275844	AGXT	c.642_645del (p.Pro215GlyfsTer?) n.332+975_332+978del	ClinVar dbSNP
2	g.240874025C>A	CA351316944	AGXT	c.643C>A (p.Pro215Thr) n.332+976C>A
2	g.240874025C=	CA1339333579	AGXT	c.643C= (p.Pro215=) n.332+976C=
2	g.240874025C>G	CA68179273	AGXT	c.643C>G (p.Pro215Ala) n.332+976C>G	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.240874025C>T	CA351316946	AGXT	c.643C>T (p.Pro215Ser) n.332+976C>T
2	g.240874026C>A	CA351316953	AGXT	c.644C>A (p.Pro215Gln) n.332+977C>A
2	g.240874026C>G	CA351316950	AGXT	c.644C>G (p.Pro215Arg) n.332+977C>G
2	g.240874026C>T	CA351316948	AGXT	c.644C>T (p.Pro215Leu) n.332+977C>T
2	g.240874027A>C	CA432024185	AGXT	c.645A>C (p.Pro215=) n.332+978A>C
2	g.240874027A>G	CA432024187	AGXT	c.645A>G (p.Pro215=) n.332+978A>G	ClinVar dbSNP
2	g.240874027A>T	CA432024189	AGXT	c.645A>T (p.Pro215=) n.332+978A>T
2	g.240874028G>A	CA275728	AGXT	c.646G>A (p.Gly216Arg) n.332+979G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874028G>C	CA351316956	AGXT	c.646G>C (p.Gly216Arg) n.332+979G>C
2	g.240874028G=	CA1339333580	AGXT	c.646G= (p.Gly216=) n.332+979G=
2	g.240874028G>T	CA351316958	AGXT	c.646G>T (p.Gly216Trp) n.332+979G>T
2	g.240874029G>A	CA2209180	AGXT	c.647G>A (p.Gly216Glu) n.332+980G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874029G>C	CA351316960	AGXT	c.647G>C (p.Gly216Ala) n.332+980G>C
2	g.240874029G=	CA1339333581	AGXT	c.647G= (p.Gly216=) n.332+980G=
2	g.240874029G>T	CA351316962	AGXT	c.647G>T (p.Gly216Val) n.332+980G>T
2	g.240874029_240874030delinsAA	CA645538649	AGXT	c.647_648delinsAA (p.Gly216Glu) n.332+980_332+981delinsAA	COSMIC
2	g.240874030G>A	CA432024194	AGXT	c.648G>A (p.Gly216=) n.332+981G>A
2	g.240874030G>C	CA2209181	AGXT	c.648G>C (p.Gly216=) n.332+981G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874030G=	CA1339333582	AGXT	c.648G= (p.Gly216=) n.332+981G=
2	g.240874030G>T	CA432024195	AGXT	c.648G>T (p.Gly216=) n.332+981G>T
2	g.240874031A>C	CA351316966	AGXT	c.649A>C (p.Thr217Pro) n.332+982A>C
2	g.240874031A>G	CA351316968	AGXT	c.649A>G (p.Thr217Ala) n.332+982A>G
2	g.240874031A>T	CA351316970	AGXT	c.649A>T (p.Thr217Ser) n.332+982A>T
2	g.240874032C>A	CA351316972	AGXT	c.650C>A (p.Thr217Asn) n.332+983C>A
2	g.240874032C>G	CA351316974	AGXT	c.650C>G (p.Thr217Ser) n.332+983C>G
2	g.240874032C>T	CA351316978	AGXT	c.650C>T (p.Thr217Ile) n.332+983C>T
2	g.240874033C>A	CA432024205	AGXT	c.651C>A (p.Thr217=) n.332+984C>A
2	g.240874033C=	CA1339333583	AGXT	c.651C= (p.Thr217=) n.332+984C=
2	g.240874033C>G	CA432024206	AGXT	c.651C>G (p.Thr217=) n.332+984C>G
2	g.240874033C>T	CA2209182	AGXT	c.651C>T (p.Thr217=) n.332+984C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874034T>A	CA351316983	AGXT	c.652T>A (p.Ser218Thr) n.332+985T>A
2	g.240874034T>C	CA351316980	AGXT	c.652T>C (p.Ser218Pro) n.332+985T>C
2	g.240874034T>G	CA351316981	AGXT	c.652T>G (p.Ser218Ala) n.332+985T>G
2	g.240874035C>A	CA351316985	AGXT	c.653C>A (p.Ser218Ter) n.332+986C>A	ClinVar dbSNP
2	g.240874035C=	CA1339333584	AGXT	c.653C= (p.Ser218=) n.332+986C=
2	g.240874035C>G	CA351316987	AGXT	c.653C>G (p.Ser218Trp) n.332+986C>G
2	g.240874035C>T	CA274210	AGXT	c.653C>T (p.Ser218Leu) n.332+986C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874036G>A	CA203191	AGXT	c.654G>A (p.Ser218=) n.332+987G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874036G>C	CA432024210	AGXT	c.654G>C (p.Ser218=) n.332+987G>C
2	g.240874036G=	CA1339333585	AGXT	c.654G= (p.Ser218=) n.332+987G=
2	g.240874036G>T	CA432024211	AGXT	c.654G>T (p.Ser218=) n.332+987G>T
2	g.240874037C>A	CA351316992	AGXT	c.655C>A (p.Leu219Ile) n.332+988C>A
2	g.240874037C=	CA1339333586	AGXT	c.655C= (p.Leu219=) n.332+988C=
2	g.240874037C>G	CA351316993	AGXT	c.655C>G (p.Leu219Val) n.332+988C>G
2	g.240874037C>T	CA351316999	AGXT	c.655C>T (p.Leu219Phe) n.332+988C>T	dbSNP gnomAD v2 gnomAD v4
2	g.240874038T>A	CA351317001	AGXT	c.656T>A (p.Leu219His) n.332+989T>A
2	g.240874038T>C	CA351317003	AGXT	c.656T>C (p.Leu219Pro) n.332+989T>C
2	g.240874038T>G	CA351317004	AGXT	c.656T>G (p.Leu219Arg) n.332+989T>G
2	g.240874039C>A	CA432024216	AGXT	c.657C>A (p.Leu219=) n.332+990C>A	COSMIC
2	g.240874039C>G	CA432024217	AGXT	c.657C>G (p.Leu219=) n.332+990C>G
2	g.240874039C>T	CA432024219	AGXT	c.657C>T (p.Leu219=) n.332+990C>T	gnomAD v4 COSMIC
2	g.240874040A>C	CA351317011	AGXT	c.658A>C (p.Ile220Leu) n.332+991A>C	gnomAD v4
2	g.240874040A>G	CA351317009	AGXT	c.658A>G (p.Ile220Val) n.332+991A>G	gnomAD v4
2	g.240874040A>T	CA351317007	AGXT	c.658A>T (p.Ile220Phe) n.332+991A>T	ClinVar
2	g.240874041T>A	CA351317013	AGXT	c.659T>A (p.Ile220Asn) n.332+992T>A
2	g.240874041T>C	CA68179282	AGXT	c.659T>C (p.Ile220Thr) n.332+992T>C	dbSNP
2	g.240874041T>G	CA351317015	AGXT	c.659T>G (p.Ile220Ser) n.332+992T>G
2	g.240874041T=	CA1339333587	AGXT	c.659T= (p.Ile220=) n.332+992T=
2	g.240874041_240874044delinsTCTC	CA1339333588	AGXT	c.659_662delinsTCTC (p.Ile220=) n.332+992_332+995delinsTCTC
2	g.240874042C>A	CA432024222	AGXT	c.660C>A (p.Ile220=) n.332+993C>A
2	g.240874042C=	CA1339333589	AGXT	c.660C= (p.Ile220=) n.332+993C=
2	g.240874042C>G	CA351317017	AGXT	c.660C>G (p.Ile220Met) n.332+993C>G
2	g.240874042C>T	CA2209183	AGXT	c.660C>T (p.Ile220=) n.332+993C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874044_240874046del	CA275845	AGXT	c.662_664del (p.Ser221del) n.332+995_332+997del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874043T>A	CA351317021	AGXT	c.661T>A (p.Ser221Thr) n.332+994T>A
2	g.240874043T>C	CA275730	AGXT	c.661T>C (p.Ser221Pro) n.332+994T>C	ClinVar dbSNP
2	g.240874043T>G	CA351317024	AGXT	c.661T>G (p.Ser221Ala) n.332+994T>G
2	g.240874043T=	CA1339333590	AGXT	c.661T= (p.Ser221=) n.332+994T=
2	g.240874044C>A	CA351317027	AGXT	c.662C>A (p.Ser221Tyr) n.332+995C>A
2	g.240874044C=	CA1339333591	AGXT	c.662C= (p.Ser221=) n.332+995C=
2	g.240874044C>G	CA351317028	AGXT	c.662C>G (p.Ser221Cys) n.332+995C>G	dbSNP gnomAD v2 gnomAD v4
2	g.240874044C>T	CA351317030	AGXT	c.662C>T (p.Ser221Phe) n.332+995C>T
2	g.240874045C>A	CA432024233	AGXT	c.663C>A (p.Ser221=) n.332+996C>A
2	g.240874045C=	CA1339333592	AGXT	c.663C= (p.Ser221=) n.332+996C=
2	g.240874045C>G	CA432024234	AGXT	c.663C>G (p.Ser221=) n.332+996C>G
2	g.240874045C>T	CA432024235	AGXT	c.663C>T (p.Ser221=) n.332+996C>T	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.240874046T>A	CA351317037	AGXT	c.664T>A (p.Phe222Ile) n.332+997T>A
2	g.240874046T>C	CA351317034	AGXT	c.664T>C (p.Phe222Leu) n.332+997T>C	dbSNP gnomAD v3 gnomAD v4
2	g.240874046T>G	CA351317032	AGXT	c.664T>G (p.Phe222Val) n.332+997T>G
2	g.240874046T=	CA1339333593	AGXT	c.664T= (p.Phe222=) n.332+997T=
2	g.240874047dup	CA2580068030	AGXT	c.665dup (p.Ser223GlnfsTer2) n.332+998dup	ClinVar
2	g.240874047T>A	CA351317039	AGXT	c.665T>A (p.Phe222Tyr) n.332+998T>A
2	g.240874047T>C	CA351317043	AGXT	c.665T>C (p.Phe222Ser) n.332+998T>C
2	g.240874047T>G	CA351317041	AGXT	c.665T>G (p.Phe222Cys) n.332+998T>G
2	g.240874048C>A	CA351317046	AGXT	c.666C>A (p.Phe222Leu) n.332+999C>A
2	g.240874048C>G	CA351317047	AGXT	c.666C>G (p.Phe222Leu) n.332+999C>G
2	g.240874048C>T	CA432024237	AGXT	c.666C>T (p.Phe222=) n.332+999C>T
2	g.240874049A>C	CA351317048	AGXT	c.667A>C (p.Ser223Arg) n.332+1000A>C	ClinVar
2	g.240874049A>G	CA351317049	AGXT	c.667A>G (p.Ser223Gly) n.332+1000A>G
2	g.240874049A>T	CA351317051	AGXT	c.667A>T (p.Ser223Cys) n.332+1000A>T
2	g.240874050G>A	CA351317053	AGXT	c.668G>A (p.Ser223Asn) n.332+1001G>A
2	g.240874050G>C	CA351317057	AGXT	c.668G>C (p.Ser223Thr) n.332+1001G>C
2	g.240874050G>T	CA351317059	AGXT	c.668G>T (p.Ser223Ile) n.332+1001G>T
2	g.240874051T>A	CA351317061	AGXT	c.669T>A (p.Ser223Arg) n.332+1002T>A
2	g.240874051T>C	CA432024244	AGXT	c.669T>C (p.Ser223=) n.332+1002T>C
2	g.240874051T>G	CA351317063	AGXT	c.669T>G (p.Ser223Arg) n.332+1002T>G
2	g.240874052G>A	CA351317065	AGXT	c.670G>A (p.Asp224Asn) n.332+1003G>A	dbSNP
2	g.240874052G>C	CA351317067	AGXT	c.670G>C (p.Asp224His) n.332+1003G>C
2	g.240874052G=	CA1339333594	AGXT	c.670G= (p.Asp224=) n.332+1003G=
2	g.240874052G>T	CA351317068	AGXT	c.670G>T (p.Asp224Tyr) n.332+1003G>T
2	g.240874053A=	CA1339333595	AGXT	c.671A= (p.Asp224=) n.332+1004A=
2	g.240874053A>C	CA351317074	AGXT	c.671A>C (p.Asp224Ala) n.332+1004A>C
2	g.240874053A>G	CA351317071	AGXT	c.671A>G (p.Asp224Gly) n.332+1004A>G	dbSNP
2	g.240874053A>T	CA351317073	AGXT	c.671A>T (p.Asp224Val) n.332+1004A>T
2	g.240874054C>A	CA351317075	AGXT	c.672C>A (p.Asp224Glu) n.332+1005C>A	COSMIC
2	g.240874054C>G	CA351317076	AGXT	c.672C>G (p.Asp224Glu) n.332+1005C>G
2	g.240874054C>T	CA432024249	AGXT	c.672C>T (p.Asp224=) n.332+1005C>T	ClinVar
2	g.240874054_240874058delinsCAAGG	CA1339333596	AGXT	c.672_676delinsCAAGG (p.Asp224=) n.332+1005_332+1009delinsCAAGG
2	g.240874055A>C	CA351317077	AGXT	c.673A>C (p.Lys225Gln) n.332+1006A>C
2	g.240874055A>G	CA351317078	AGXT	c.673A>G (p.Lys225Glu) n.332+1006A>G	COSMIC
2	g.240874055A>T	CA351317079	AGXT	c.673A>T (p.Lys225Ter) n.332+1006A>T	ClinVar
2	g.240874055_240874058del	CA16040868	AGXT	c.673_676del (p.Lys225ProfsTer?) n.332+1006_332+1009del	ClinVar dbSNP gnomAD v4
2	g.240874056A>C	CA351317080	AGXT	c.674A>C (p.Lys225Thr) n.332+1007A>C
2	g.240874056A>G	CA351317081	AGXT	c.674A>G (p.Lys225Arg) n.332+1007A>G
2	g.240874056A>T	CA351317082	AGXT	c.674A>T (p.Lys225Met) n.332+1007A>T
2	g.240874057G>A	CA432024252	AGXT	c.675G>A (p.Lys225=) n.332+1008G>A
2	g.240874057G>C	CA351317083	AGXT	c.675G>C (p.Lys225Asn) n.332+1008G>C
2	g.240874057G>T	CA351317084	AGXT	c.675G>T (p.Lys225Asn) n.332+1008G>T
2	g.240874058G>A	CA351317085	AGXT	c.676G>A (p.Ala226Thr) n.332+1009G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874058G>C	CA351317087	AGXT	c.676G>C (p.Ala226Pro) n.332+1009G>C
2	g.240874058G=	CA1339333597	AGXT	c.676G= (p.Ala226=) n.332+1009G=
2	g.240874058G>T	CA2209184	AGXT	c.676G>T (p.Ala226Ser) n.332+1009G>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874059C>A	CA351317089	AGXT	c.677C>A (p.Ala226Asp) n.332+1010C>A
2	g.240874059C=	CA1339333598	AGXT	c.677C= (p.Ala226=) n.332+1010C=
2	g.240874059C>G	CA351317091	AGXT	c.677C>G (p.Ala226Gly) n.332+1010C>G	dbSNP
2	g.240874059C>T	CA351317093	AGXT	c.677C>T (p.Ala226Val) n.332+1010C>T
2	g.240874060C>A	CA432024256	AGXT	c.678C>A (p.Ala226=) n.332+1011C>A
2	g.240874060C>G	CA432024257	AGXT	c.678C>G (p.Ala226=) n.332+1011C>G
2	g.240874060C>T	CA432024258	AGXT	c.678C>T (p.Ala226=) n.332+1011C>T
2	g.240874060_240874064delinsCAAGT	CA1339333599	AGXT	c.678_680+2delinsCAAGT n.332+1011_332+1015delinsCAAGT
2	g.240874061A=	CA1339333600	AGXT	c.679A= (p.Lys227=) n.332+1012A=
2	g.240874061A>C	CA351317095	AGXT	c.679A>C (p.Lys227Gln) n.332+1012A>C
2	g.240874061A>G	CA2209185	AGXT	c.679A>G (p.Lys227Glu) n.332+1012A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874061A>T	CA351317097	AGXT	c.679A>T (p.Lys227Ter) n.332+1012A>T
2	g.240874061_240874062del	CA2586971640	AGXT	c.679_680del (p.Lys228GlufsTer26) n.332+1012_332+1013del
2	g.240874061_240874064del	CA275847	AGXT	c.679_680+2del n.332+1012_332+1015del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874062A>C	CA351317101	AGXT	c.680A>C (p.Lys227Thr) n.332+1013A>C
2	g.240874062A>G	CA351317102	AGXT	c.680A>G (p.Lys227Arg) n.332+1013A>G
2	g.240874062A>T	CA351317105	AGXT	c.680A>T (p.Lys227Ile) n.332+1013A>T
2	g.240874063G>A	CA275794	AGXT	c.680+1G>A (n.680+1G>A) n.332+1014G>A	ClinVar dbSNP gnomAD v4
2	g.240874063G>C	CA275793	AGXT	c.680+1G>C (n.680+1G>C) n.332+1014G>C	ClinVar dbSNP
2	g.240874063G=	CA1339333601	AGXT	c.680+1G= (n.680+1G=) n.332+1014G=
2	g.240874063G>T	CA351317110	AGXT	c.680+1G>T (n.680+1G>T) n.332+1014G>T	ClinVar
2	g.240874064T>A	CA275795	AGXT	c.680+2T>A (n.680+2T>A) n.332+1015T>A	ClinVar dbSNP
2	g.240874064T>C	CA351317114	AGXT	c.680+2T>C (n.680+2T>C) n.332+1015T>C
2	g.240874064T>G	CA351317112	AGXT	c.680+2T>G (n.680+2T>G) n.332+1015T>G
2	g.240874064T=	CA1339333602	AGXT	c.680+2T= (n.680+2T=) n.332+1015T=
2	g.240874065G>A	CA1339333603	AGXT	c.680+3G>A (n.680+3G>A) n.332+1016G>A	dbSNP gnomAD v4
2	g.240874065G>C	CA2740098051	AGXT	c.680+3G>C (n.680+3G>C) n.332+1016G>C	ClinVar
2	g.240874065G=	CA1339333604	AGXT	c.680+3G= (n.680+3G=) n.332+1016G=
2	g.240874066_240874068delinsAGT	CA1339333605	AGXT	c.680+4_680+6delinsAGT (n.680+4_680+6delinsAGT) n.332+1017_332+1019delinsAGT
2	g.240874067G>C	CA275796	AGXT	c.680+5G>C (n.680+5G>C) n.332+1018G>C	ClinVar dbSNP
2	g.240874067G=	CA1339333606	AGXT	c.680+5G= (n.680+5G=) n.332+1018G=
2	g.240874068_240874069del	CA2209186	AGXT	c.680+6_680+7del (n.680+6_680+7del) n.332+1019_332+1020del	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874068T>C	CA2664007938	AGXT	c.680+6T>C (n.680+6T>C) n.332+1019T>C	gnomAD v4
2	g.240874069G=	CA1339333607	AGXT	c.680+7G= (n.680+7G=) n.332+1020G=
2	g.240874069G>T	CA2209187	AGXT	c.680+7G>T (n.680+7G>T) n.332+1020G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874070A=	CA1339333608	AGXT	c.680+8A= (n.680+8A=) n.332+1021A=
2	g.240874071C>A	CA2664007943	AGXT	c.680+9C>A (n.680+9C>A) n.332+1022C>A	gnomAD v4
2	g.240874071C>T	CA2664007944	AGXT	c.680+9C>T (n.680+9C>T) n.332+1022C>T	gnomAD v4
2	g.240874073dup	CA540536291	AGXT	c.680+11dup (n.680+11dup) n.332+1024dup	dbSNP gnomAD v2 gnomAD v4
2	g.240874073C>T	CA2536380177	AGXT	c.680+11C>T (n.680+11C>T) n.332+1024C>T
2	g.240874074A>C	CA2664007950	AGXT	c.680+12A>C (n.680+12A>C) n.332+1025A>C	ClinVar gnomAD v4
2	g.240874075C=	CA1339333609	AGXT	c.680+13C= (n.680+13C=) n.332+1026C=
2	g.240874075C>G	CA68179299	AGXT	c.680+13C>G (n.680+13C>G) n.332+1026C>G	ClinVar dbSNP gnomAD v4
2	g.240874075C>T	CA2664007954	AGXT	c.680+13C>T (n.680+13C>T) n.332+1026C>T	gnomAD v4
2	g.240874079C>A	CA1339333611	AGXT	c.680+17C>A (n.680+17C>A) n.333-1030C>A	dbSNP gnomAD v3 gnomAD v4
2	g.240874079C=	CA1339333610	AGXT	c.680+17C= (n.680+17C=) n.333-1030C=
2	g.240874079C>G	CA1044068564	AGXT	c.680+17C>G (n.680+17C>G) n.333-1030C>G	gnomAD v3 gnomAD v4
2	g.240874079C>T	CA275581	AGXT	c.680+17C>T (n.680+17C>T) n.333-1030C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874081C>A	CA2664007962	AGXT	c.680+19C>A (n.680+19C>A) n.333-1028C>A	gnomAD v4
2	g.240874081C=	CA1339333612	AGXT	c.680+19C= (n.680+19C=) n.333-1028C=
2	g.240874081C>G	CA2664007963	AGXT	c.680+19C>G (n.680+19C>G) n.333-1028C>G	gnomAD v4
2	g.240874081C>T	CA68179303	AGXT	c.680+19C>T (n.680+19C>T) n.333-1028C>T	dbSNP gnomAD v2 gnomAD v4
2	g.240874083C=	CA1339333613	AGXT	c.680+21C= (n.680+21C=) n.333-1026C=
2	g.240874083C>T	CA1339333614	AGXT	c.680+21C>T (n.680+21C>T) n.333-1026C>T	dbSNP
2	g.240874084A=	CA1339333615	AGXT	c.680+22A= (n.680+22A=) n.333-1025A=
2	g.240874084A>C	CA2577302627	AGXT	c.680+22A>C (n.680+22A>C) n.333-1025A>C	gnomAD v4
2	g.240874084A>G	CA2209188	AGXT	c.680+22A>G (n.680+22A>G) n.333-1025A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874085C=	CA1339333616	AGXT	c.680+23C= (n.680+23C=) n.333-1024C=
2	g.240874085C>T	CA2209189	AGXT	c.680+23C>T (n.680+23C>T) n.333-1024C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240874086C>A	CA2577302628	AGXT	c.680+24C>A (n.680+24C>A) n.333-1023C>A	gnomAD v4
2	g.240874086C=	CA1339333617	AGXT	c.680+24C= (n.680+24C=) n.333-1023C=
2	g.240874086C>T	CA2209190	AGXT	c.680+24C>T (n.680+24C>T) n.333-1023C>T	dbSNP ExAC gnomAD v4
2	g.240874089T>A	CA2664007980	AGXT	c.680+27T>A (n.680+27T>A) n.333-1020T>A	gnomAD v4
2	g.240874090G>A	CA540536292	AGXT	c.680+28G>A (n.680+28G>A) n.333-1019G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240874090G>C	CA2664007982	AGXT	c.680+28G>C (n.680+28G>C) n.333-1019G>C	gnomAD v4
2	g.240874090G=	CA1339333618	AGXT	c.680+28G= (n.680+28G=) n.333-1019G=
2	g.240874090G>T	CA2664007985	AGXT	c.680+28G>T (n.680+28G>T) n.333-1019G>T	gnomAD v4
2	g.240874091T>C	CA2664007989	AGXT	c.680+29T>C (n.680+29T>C) n.333-1018T>C	gnomAD v4
2	g.240874092G>A	CA2209191	AGXT	c.680+30G>A (n.680+30G>A) n.333-1017G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240874092G=	CA1339333619	AGXT	c.680+30G= (n.680+30G=) n.333-1017G=
2	g.240874092G>T	CA540536293	AGXT	c.680+30G>T (n.680+30G>T) n.333-1017G>T	dbSNP gnomAD v2 gnomAD v4
2	g.240874093C=	CA1339333620	AGXT	c.680+31C= (n.680+31C=) n.333-1016C=
2	g.240874093C>T	CA2209192	AGXT	c.680+31C>T (n.680+31C>T) n.333-1016C>T	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched