Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240878000C>A	CA2209354	AGXT	c.943-22C>A (n.943-22C>A) n.721-22C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878000C=	CA1339335732	AGXT	c.943-22C= (n.943-22C=) n.721-22C=
2	g.240878000C>G	CA2664011709	AGXT	c.943-22C>G (n.943-22C>G) n.721-22C>G	gnomAD v4
2	g.240878000C>T	CA2209353	AGXT	c.943-22C>T (n.943-22C>T) n.721-22C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878001T>A	CA2664011714	AGXT	c.943-21T>A (n.943-21T>A) n.721-21T>A	gnomAD v4
2	g.240878002G>A	CA2209355	AGXT	c.943-20G>A (n.943-20G>A) n.721-20G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878002G>C	CA2740381936	AGXT	c.943-20G>C (n.943-20G>C) n.721-20G>C
2	g.240878002G=	CA1339335733	AGXT	c.943-20G= (n.943-20G=) n.721-20G=
2	g.240878002G>T	CA2664011716	AGXT	c.943-20G>T (n.943-20G>T) n.721-20G>T	gnomAD v4
2	g.240878004G>A	CA2739279277	AGXT	c.943-18G>A (n.943-18G>A) n.721-18G>A	ClinVar
2	g.240878004G=	CA1339335734	AGXT	c.943-18G= (n.943-18G=) n.721-18G=
2	g.240878004G>T	CA1339335735	AGXT	c.943-18G>T (n.943-18G>T) n.721-18G>T	dbSNP
2	g.240878005C>A	CA2664011718	AGXT	c.943-17C>A (n.943-17C>A) n.721-17C>A	ClinVar gnomAD v4
2	g.240878005C>T	CA2664011720	AGXT	c.943-17C>T (n.943-17C>T) n.721-17C>T	gnomAD v4
2	g.240878009G>A	CA540538500	AGXT	c.943-13G>A (n.943-13G>A) n.721-13G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240878009G=	CA1339335736	AGXT	c.943-13G= (n.943-13G=) n.721-13G=
2	g.240878009_240878012delinsGCCC	CA1339335737	AGXT	c.943-13_943-10delinsGCCC (n.943-13_943-10delinsGCCC) n.721-13_721-10delinsGCCC
2	g.240878009_240878013del	CA2664011724	AGXT	c.943-13_943-9del (n.943-13_943-9del) n.721-13_721-9del	gnomAD v4
2	g.240878010C=	CA1339335739	AGXT	c.943-12C= (n.943-12C=) n.721-12C=
2	g.240878010C>T	CA540538502	AGXT	c.943-12C>T (n.943-12C>T) n.721-12C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878011_240878013del	CA1339335738	AGXT	c.943-11_943-9del (n.943-11_943-9del) n.721-11_721-9del	dbSNP
2	g.240878011C>T	CA2664011755	AGXT	c.943-11C>T (n.943-11C>T) n.721-11C>T	gnomAD v4
2	g.240878012C=	CA1339335740	AGXT	c.943-10C= (n.943-10C=) n.721-10C=
2	g.240878012C>G	CA2664011764	AGXT	c.943-10C>G (n.943-10C>G) n.721-10C>G	ClinVar gnomAD v4
2	g.240878012C>T	CA540538506	AGXT	c.943-10C>T (n.943-10C>T) n.721-10C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878014T>C	CA2209356	AGXT	c.943-8T>C (n.943-8T>C) n.721-8T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878014T=	CA1339335741	AGXT	c.943-8T= (n.943-8T=) n.721-8T=
2	g.240878015_240878021del	CA2664011773	AGXT	c.943-7_943-1del (n.943-7_943-1del) n.721-7_721-1del	gnomAD v4
2	g.240878016C=	CA1339335742	AGXT	c.943-6C= (n.943-6C=) n.721-6C=
2	g.240878016C>T	CA540538516	AGXT	c.943-6C>T (n.943-6C>T) n.721-6C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878017T>C	CA1339335744	AGXT	c.943-5T>C (n.943-5T>C) n.721-5T>C	ClinVar dbSNP gnomAD v4
2	g.240878017T=	CA1339335743	AGXT	c.943-5T= (n.943-5T=) n.721-5T=
2	g.240878018G>A	CA2664011784	AGXT	c.943-4G>A (n.943-4G>A) n.721-4G>A	gnomAD v4
2	g.240878019C>T	CA2577302761	AGXT	c.943-3C>T (n.943-3C>T) n.721-3C>T	gnomAD v4
2	g.240878020A=	CA1339335745	AGXT	c.943-2A= (n.943-2A=) n.721-2A=
2	g.240878020A>C	CA68180804	AGXT	c.943-2A>C (n.943-2A>C) n.721-2A>C	dbSNP
2	g.240878020A>G	CA351319457	AGXT	c.943-2A>G (n.943-2A>G) n.721-2A>G
2	g.240878020A>T	CA68180806	AGXT	c.943-2A>T (n.943-2A>T) n.721-2A>T	dbSNP
2	g.240878021G>A	CA275811	AGXT	c.943-1G>A (n.943-1G>A) n.721-1G>A	ClinVar dbSNP gnomAD v4
2	g.240878021G>C	CA351319458	AGXT	c.943-1G>C (n.943-1G>C) n.721-1G>C
2	g.240878021G=	CA1339335746	AGXT	c.943-1G= (n.943-1G=) n.721-1G=
2	g.240878021G>T	CA275810	AGXT	c.943-1G>T (n.943-1G>T) n.721-1G>T	ClinVar dbSNP COSMIC
2	g.240878022G>A	CA2209357	AGXT	c.943G>A (p.Ala315Thr) n.721G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878022G>C	CA351319459	AGXT	c.943G>C (p.Ala315Pro) n.721G>C
2	g.240878022G=	CA1339335747	AGXT	c.943G= (p.Ala315=) n.721G=
2	g.240878022G>T	CA351319460	AGXT	c.943G>T (p.Ala315Ser) n.721G>T	gnomAD v4
2	g.240878023C>A	CA351319461	AGXT	c.944C>A (p.Ala315Glu) n.722C>A
2	g.240878023C=	CA1339335748	AGXT	c.944C= (p.Ala315=) n.722C=
2	g.240878023C>G	CA351319462	AGXT	c.944C>G (p.Ala315Gly) n.722C>G
2	g.240878023C>T	CA2209358	AGXT	c.944C>T (p.Ala315Val) n.722C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878024G>A	CA2209359	AGXT	c.945G>A (p.Ala315=) n.723G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878024G>C	CA2209360	AGXT	c.945G>C (p.Ala315=) n.723G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878024G=	CA1339335749	AGXT	c.945G= (p.Ala315=) n.723G=
2	g.240878024G>T	CA432026089	AGXT	c.945G>T (p.Ala315=) n.723G>T	dbSNP gnomAD v4
2	g.240878025C>A	CA351319465	AGXT	c.946C>A (p.Leu316Ile) n.724C>A
2	g.240878025C>G	CA351319464	AGXT	c.946C>G (p.Leu316Val) n.724C>G
2	g.240878025C>T	CA351319463	AGXT	c.946C>T (p.Leu316Phe) n.724C>T
2	g.240878026T>A	CA351319466	AGXT	c.947T>A (p.Leu316His) n.725T>A
2	g.240878026T>C	CA275765	AGXT	c.947T>C (p.Leu316Pro) n.725T>C	ClinVar dbSNP
2	g.240878026T>G	CA351319467	AGXT	c.947T>G (p.Leu316Arg) n.725T>G
2	g.240878026T=	CA1339335750	AGXT	c.947T= (p.Leu316=) n.725T=
2	g.240878027C>A	CA432026097	AGXT	c.948C>A (p.Leu316=) n.726C>A
2	g.240878027C=	CA1339335751	AGXT	c.948C= (p.Leu316=) n.726C=
2	g.240878027C>G	CA432026098	AGXT	c.948C>G (p.Leu316=) n.726C>G
2	g.240878027C>T	CA2209361	AGXT	c.948C>T (p.Leu316=) n.726C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878028C>A	CA432026102	AGXT	c.949C>A (p.Arg317=) n.727C>A
2	g.240878028C=	CA1339335752	AGXT	c.949C= (p.Arg317=) n.727C=
2	g.240878028C>G	CA351319468	AGXT	c.949C>G (p.Arg317Gly) n.727C>G
2	g.240878028C>T	CA2209362	AGXT	c.949C>T (p.Arg317Trp) n.727C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878029G>A	CA2209364	AGXT	c.950G>A (p.Arg317Gln) n.728G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878029G>C	CA2209363	AGXT	c.950G>C (p.Arg317Pro) n.728G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878029G=	CA1339335753	AGXT	c.950G= (p.Arg317=) n.728G=
2	g.240878029G>T	CA351319469	AGXT	c.950G>T (p.Arg317Leu) n.728G>T	gnomAD v4
2	g.240878030G>A	CA432026110	AGXT	c.951G>A (p.Arg317=) n.729G>A	dbSNP gnomAD v2 gnomAD v4
2	g.240878030G>C	CA432026112	AGXT	c.951G>C (p.Arg317=) n.729G>C	gnomAD v4
2	g.240878030G=	CA1339335754	AGXT	c.951G= (p.Arg317=) n.729G=
2	g.240878030G>T	CA432026113	AGXT	c.951G>T (p.Arg317=) n.729G>T	gnomAD v4
2	g.240878031C>A	CA351319470	AGXT	c.952C>A (p.Leu318Ile) n.730C>A
2	g.240878031C>G	CA351319471	AGXT	c.952C>G (p.Leu318Val) n.730C>G	gnomAD v4
2	g.240878031C>T	CA351319472	AGXT	c.952C>T (p.Leu318Phe) n.730C>T
2	g.240878032T>A	CA351319473	AGXT	c.953T>A (p.Leu318His) n.731T>A
2	g.240878032T>C	CA351319475	AGXT	c.953T>C (p.Leu318Pro) n.731T>C
2	g.240878032T>G	CA351319474	AGXT	c.953T>G (p.Leu318Arg) n.731T>G
2	g.240878033T>A	CA432026119	AGXT	c.954T>A (p.Leu318=) n.732T>A
2	g.240878033T>C	CA432026120	AGXT	c.954T>C (p.Leu318=) n.732T>C
2	g.240878033T>G	CA432026121	AGXT	c.954T>G (p.Leu318=) n.732T>G
2	g.240878034C>A	CA351319476	AGXT	c.955C>A (p.Pro319Thr) n.733C>A
2	g.240878034C>G	CA351319478	AGXT	c.955C>G (p.Pro319Ala) n.733C>G
2	g.240878034C>T	CA351319477	AGXT	c.955C>T (p.Pro319Ser) n.733C>T
2	g.240878035C>A	CA351319479	AGXT	c.956C>A (p.Pro319His) n.734C>A
2	g.240878035C=	CA1339335755	AGXT	c.956C= (p.Pro319=) n.734C=
2	g.240878035C>G	CA351319480	AGXT	c.956C>G (p.Pro319Arg) n.734C>G
2	g.240878035C>T	CA275767	AGXT	c.956C>T (p.Pro319Leu) n.734C>T	ClinVar dbSNP
2	g.240878035_240878037delinsCCA	CA1339335756	AGXT	c.956_958delinsCCA (p.Pro319=) n.734_736delinsCCA
2	g.240878036C>A	CA432026133	AGXT	c.957C>A (p.Pro319=) n.735C>A	gnomAD v4
2	g.240878036C=	CA1339335757	AGXT	c.957C= (p.Pro319=) n.735C=
2	g.240878036C>G	CA432026129	AGXT	c.957C>G (p.Pro319=) n.735C>G
2	g.240878036C>T	CA432026131	AGXT	c.957C>T (p.Pro319=) n.735C>T	ClinVar dbSNP gnomAD v4
2	g.240878038_240878039del	CA275861	AGXT	c.959_960del (p.Thr320SerfsTer11) n.737_738del	ClinVar dbSNP gnomAD v4
2	g.240878037A=	CA1339335758	AGXT	c.958A= (p.Thr320=) n.736A=
2	g.240878037A>C	CA68180825	AGXT	c.958A>C (p.Thr320Pro) n.736A>C	dbSNP
2	g.240878037A>G	CA351319481	AGXT	c.958A>G (p.Thr320Ala) n.736A>G
2	g.240878037A>T	CA351319482	AGXT	c.958A>T (p.Thr320Ser) n.736A>T
2	g.240878038C>A	CA351319483	AGXT	c.959C>A (p.Thr320Lys) n.737C>A
2	g.240878038C>G	CA351319484	AGXT	c.959C>G (p.Thr320Arg) n.737C>G
2	g.240878038C>T	CA351319485	AGXT	c.959C>T (p.Thr320Ile) n.737C>T	COSMIC
2	g.240878039del	CA2739279278	AGXT	c.960del (p.Val321SerfsTer20) n.738del	ClinVar
2	g.240878039A=	CA1339335759	AGXT	c.960A= (p.Thr320=) n.738A=
2	g.240878039A>C	CA432026145	AGXT	c.960A>C (p.Thr320=) n.738A>C
2	g.240878039A>G	CA432026147	AGXT	c.960A>G (p.Thr320=) n.738A>G	ClinVar dbSNP
2	g.240878039A>T	CA432026149	AGXT	c.960A>T (p.Thr320=) n.738A>T
2	g.240878040G>A	CA351319488	AGXT	c.961G>A (p.Val321Ile) n.739G>A
2	g.240878040G>C	CA351319487	AGXT	c.961G>C (p.Val321Leu) n.739G>C
2	g.240878040G>T	CA351319486	AGXT	c.961G>T (p.Val321Phe) n.739G>T	ClinVar dbSNP
2	g.240878041T>A	CA351319489	AGXT	c.962T>A (p.Val321Asp) n.740T>A
2	g.240878041T>C	CA351319490	AGXT	c.962T>C (p.Val321Ala) n.740T>C
2	g.240878041T>G	CA351319491	AGXT	c.962T>G (p.Val321Gly) n.740T>G
2	g.240878042C>A	CA432026158	AGXT	c.963C>A (p.Val321=) n.741C>A
2	g.240878042C>G	CA432026161	AGXT	c.963C>G (p.Val321=) n.741C>G
2	g.240878042C>T	CA432026162	AGXT	c.963C>T (p.Val321=) n.741C>T	gnomAD v4
2	g.240878043A=	CA1339335760	AGXT	c.964A= (p.Thr322=) n.742A=
2	g.240878043A>C	CA351319492	AGXT	c.964A>C (p.Thr322Pro) n.742A>C	dbSNP
2	g.240878043A>G	CA351319493	AGXT	c.964A>G (p.Thr322Ala) n.742A>G
2	g.240878043A>T	CA351319494	AGXT	c.964A>T (p.Thr322Ser) n.742A>T
2	g.240878044C>A	CA351319495	AGXT	c.965C>A (p.Thr322Asn) n.743C>A
2	g.240878044C>G	CA351319496	AGXT	c.965C>G (p.Thr322Ser) n.743C>G	gnomAD v4
2	g.240878044C>T	CA351319497	AGXT	c.965C>T (p.Thr322Ile) n.743C>T	gnomAD v4
2	g.240878045C>A	CA432026170	AGXT	c.966C>A (p.Thr322=) n.744C>A
2	g.240878045C>G	CA432026172	AGXT	c.966C>G (p.Thr322=) n.744C>G
2	g.240878045C>T	CA432026173	AGXT	c.966C>T (p.Thr322=) n.744C>T	dbSNP
2	g.240878046A>C	CA351319498	AGXT	c.967A>C (p.Thr323Pro) n.745A>C
2	g.240878046A>G	CA351319499	AGXT	c.967A>G (p.Thr323Ala) n.745A>G
2	g.240878046A>T	CA351319500	AGXT	c.967A>T (p.Thr323Ser) n.745A>T
2	g.240878047C>A	CA351319502	AGXT	c.968C>A (p.Thr323Asn) n.746C>A
2	g.240878047C>G	CA351319503	AGXT	c.968C>G (p.Thr323Ser) n.746C>G
2	g.240878047C>T	CA351319501	AGXT	c.968C>T (p.Thr323Ile) n.746C>T	gnomAD v4
2	g.240878047_240878049delinsCTG	CA1339335761	AGXT	c.968_970delinsCTG (p.Thr323=) n.746_748delinsCTG
2	g.240878048T>A	CA432026185	AGXT	c.969T>A (p.Thr323=) n.747T>A
2	g.240878048T>C	CA432026186	AGXT	c.969T>C (p.Thr323=) n.747T>C
2	g.240878048T>G	CA432026188	AGXT	c.969T>G (p.Thr323=) n.747T>G
2	g.240878050_240878051del	CA275862	AGXT	c.971_972del (p.Val324GlyfsTer7) n.749_750del	ClinVar dbSNP
2	g.240878049G>A	CA351319504	AGXT	c.970G>A (p.Val324Met) n.748G>A
2	g.240878049G>C	CA351319505	AGXT	c.970G>C (p.Val324Leu) n.748G>C
2	g.240878049G>T	CA351319506	AGXT	c.970G>T (p.Val324Leu) n.748G>T
2	g.240878050T>A	CA351319507	AGXT	c.971T>A (p.Val324Glu) n.749T>A
2	g.240878050T>C	CA351319508	AGXT	c.971T>C (p.Val324Ala) n.749T>C	dbSNP gnomAD v2 gnomAD v4
2	g.240878050T>G	CA351319509	AGXT	c.971T>G (p.Val324Gly) n.749T>G	gnomAD v4
2	g.240878050T=	CA1339335762	AGXT	c.971T= (p.Val324=) n.749T=
2	g.240878050_240878051delinsTG	CA1339335763	AGXT	c.971_972delinsTG (p.Val324=) n.749_750delinsTG
2	g.240878051G>A	CA432026199	AGXT	c.972G>A (p.Val324=) n.750G>A	ClinVar
2	g.240878051G>C	CA432026195	AGXT	c.972G>C (p.Val324=) n.750G>C
2	g.240878051G>T	CA432026198	AGXT	c.972G>T (p.Val324=) n.750G>T
2	g.240878052del	CA1139655794	AGXT	c.973del (p.Ala325LeufsTer16) n.751del	ClinVar dbSNP
2	g.240878052G>A	CA2209365	AGXT	c.973G>A (p.Ala325Thr) n.751G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878052G>C	CA351319510	AGXT	c.973G>C (p.Ala325Pro) n.751G>C
2	g.240878052G=	CA1339335764	AGXT	c.973G= (p.Ala325=) n.751G=
2	g.240878052G>T	CA351319511	AGXT	c.973G>T (p.Ala325Ser) n.751G>T
2	g.240878053C>A	CA351319512	AGXT	c.974C>A (p.Ala325Asp) n.752C>A
2	g.240878053C>G	CA351319513	AGXT	c.974C>G (p.Ala325Gly) n.752C>G
2	g.240878053C>T	CA351319514	AGXT	c.974C>T (p.Ala325Val) n.752C>T	gnomAD v4
2	g.240878054T>A	CA432026201	AGXT	c.975T>A (p.Ala325=) n.753T>A
2	g.240878054T>C	CA432026202	AGXT	c.975T>C (p.Ala325=) n.753T>C	ClinVar
2	g.240878054T>G	CA432026203	AGXT	c.975T>G (p.Ala325=) n.753T>G
2	g.240878054_240878055delinsTG	CA1339335765	AGXT	c.975_976delinsTG (p.Ala325=) n.753_754delinsTG
2	g.240878055del	CA274440	AGXT	c.976del (p.Val326TyrfsTer15) n.754del	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240878055G>A	CA275602	AGXT	c.976G>A (p.Val326Ile) n.754G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878055G>C	CA351319515	AGXT	c.976G>C (p.Val326Leu) n.754G>C
2	g.240878055G=	CA1339335766	AGXT	c.976G= (p.Val326=) n.754G=
2	g.240878055G>T	CA351319516	AGXT	c.976G>T (p.Val326Leu) n.754G>T	gnomAD v4
2	g.240878056del	CA351319520	AGXT	c.977del (p.Val326AspfsTer15) n.755del
2	g.240878056T>A	CA351319517	AGXT	c.977T>A (p.Val326Glu) n.755T>A
2	g.240878056T>C	CA351319518	AGXT	c.977T>C (p.Val326Ala) n.755T>C	dbSNP gnomAD v3 gnomAD v4
2	g.240878056T>G	CA351319519	AGXT	c.977T>G (p.Val326Gly) n.755T>G
2	g.240878056T=	CA1339335767	AGXT	c.977T= (p.Val326=) n.755T=
2	g.240878057A>C	CA432026213	AGXT	c.978A>C (p.Val326=) n.756A>C
2	g.240878057A>G	CA432026215	AGXT	c.978A>G (p.Val326=) n.756A>G
2	g.240878057A>T	CA432026216	AGXT	c.978A>T (p.Val326=) n.756A>T	ClinVar dbSNP
2	g.240878058C>A	CA351319521	AGXT	c.979C>A (p.Pro327Thr) n.757C>A
2	g.240878058C=	CA1339335768	AGXT	c.979C= (p.Pro327=) n.757C=
2	g.240878058C>G	CA351319522	AGXT	c.979C>G (p.Pro327Ala) n.757C>G
2	g.240878058C>T	CA351319523	AGXT	c.979C>T (p.Pro327Ser) n.757C>T	dbSNP
2	g.240878059C>A	CA351319524	AGXT	c.980C>A (p.Pro327His) n.758C>A
2	g.240878059C>G	CA351319525	AGXT	c.980C>G (p.Pro327Arg) n.758C>G
2	g.240878059C>T	CA351319526	AGXT	c.980C>T (p.Pro327Leu) n.758C>T
2	g.240878060C>A	CA432026222	AGXT	c.981C>A (p.Pro327=) n.759C>A	gnomAD v4
2	g.240878060C=	CA1339335769	AGXT	c.981C= (p.Pro327=) n.759C=
2	g.240878060C>G	CA432026224	AGXT	c.981C>G (p.Pro327=) n.759C>G
2	g.240878060C>T	CA2209366	AGXT	c.981C>T (p.Pro327=) n.759C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878061G>A	CA2209367	AGXT	c.982G>A (p.Ala328Thr) n.760G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878061G>C	CA351319528	AGXT	c.982G>C (p.Ala328Pro) n.760G>C	dbSNP
2	g.240878061G=	CA1339335771	AGXT	c.982G= (p.Ala328=) n.760G=
2	g.240878061G>T	CA351319527	AGXT	c.982G>T (p.Ala328Ser) n.760G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878061_240878067delinsGCTGGCT	CA1339335770	AGXT	c.982_988delinsGCTGGCT (p.Ala328=) n.760_766delinsGCTGGCT
2	g.240878062C>A	CA351319529	AGXT	c.983C>A (p.Ala328Asp) n.761C>A
2	g.240878062C>G	CA351319530	AGXT	c.983C>G (p.Ala328Gly) n.761C>G
2	g.240878062C>T	CA351319531	AGXT	c.983C>T (p.Ala328Val) n.761C>T
2	g.240878062dup	CA2580068044	AGXT	c.983dup (p.Gly329TrpfsTer3) n.761dup	ClinVar
2	g.240878062_240878067del	CA275863	AGXT	c.983_988del (p.Ala328_Tyr330delinsAsp) n.761_766del	ClinVar dbSNP
2	g.240878063T>A	CA432026227	AGXT	c.984T>A (p.Ala328=) n.762T>A
2	g.240878063T>C	CA432026229	AGXT	c.984T>C (p.Ala328=) n.762T>C	ClinVar
2	g.240878063T>G	CA432026231	AGXT	c.984T>G (p.Ala328=) n.762T>G	ClinVar dbSNP gnomAD v4
2	g.240878063T=	CA1339335772	AGXT	c.984T= (p.Ala328=) n.762T=
2	g.240878064G>A	CA2209368	AGXT	c.985G>A (p.Gly329Ser) n.763G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878064G>C	CA351319532	AGXT	c.985G>C (p.Gly329Arg) n.763G>C
2	g.240878064G=	CA1339335773	AGXT	c.985G= (p.Gly329=) n.763G=
2	g.240878064G>T	CA351319533	AGXT	c.985G>T (p.Gly329Cys) n.763G>T
2	g.240878065G>A	CA351319534	AGXT	c.986G>A (p.Gly329Asp) n.764G>A
2	g.240878065G>C	CA351319535	AGXT	c.986G>C (p.Gly329Ala) n.764G>C
2	g.240878065G>T	CA351319536	AGXT	c.986G>T (p.Gly329Val) n.764G>T
2	g.240878066C>A	CA432026240	AGXT	c.987C>A (p.Gly329=) n.765C>A
2	g.240878066C=	CA1339335774	AGXT	c.987C= (p.Gly329=) n.765C=
2	g.240878066C>G	CA68180834	AGXT	c.987C>G (p.Gly329=) n.765C>G	dbSNP
2	g.240878066C>T	CA2209369	AGXT	c.987C>T (p.Gly329=) n.765C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878067T>A	CA351319539	AGXT	c.988T>A (p.Tyr330Asn) n.766T>A
2	g.240878067T>C	CA351319537	AGXT	c.988T>C (p.Tyr330His) n.766T>C
2	g.240878067T>G	CA351319538	AGXT	c.988T>G (p.Tyr330Asp) n.766T>G
2	g.240878068A=	CA1339335775	AGXT	c.989A= (p.Tyr330=) n.767A=
2	g.240878068A>C	CA351319540	AGXT	c.989A>C (p.Tyr330Ser) n.767A>C
2	g.240878068A>G	CA351319541	AGXT	c.989A>G (p.Tyr330Cys) n.767A>G	dbSNP gnomAD v3 gnomAD v4
2	g.240878068A>T	CA351319542	AGXT	c.989A>T (p.Tyr330Phe) n.767A>T
2	g.240878069T>A	CA351319543	AGXT	c.990T>A (p.Tyr330Ter) n.768T>A
2	g.240878069T>C	CA432026243	AGXT	c.990T>C (p.Tyr330=) n.768T>C	dbSNP gnomAD v3 gnomAD v4
2	g.240878069T>G	CA68180837	AGXT	c.990T>G (p.Tyr330Ter) n.768T>G	dbSNP
2	g.240878069T=	CA1339335776	AGXT	c.990T= (p.Tyr330=) n.768T=
2	g.240878070G>A	CA351319544	AGXT	c.991G>A (p.Asp331Asn) n.769G>A
2	g.240878070G>C	CA351319546	AGXT	c.991G>C (p.Asp331His) n.769G>C
2	g.240878070G>T	CA351319545	AGXT	c.991G>T (p.Asp331Tyr) n.769G>T	gnomAD v4
2	g.240878071A>C	CA351319547	AGXT	c.992A>C (p.Asp331Ala) n.770A>C
2	g.240878071A>G	CA351319548	AGXT	c.992A>G (p.Asp331Gly) n.770A>G
2	g.240878071A>T	CA351319549	AGXT	c.992A>T (p.Asp331Val) n.770A>T
2	g.240878072C>A	CA351319550	AGXT	c.993C>A (p.Asp331Glu) n.771C>A
2	g.240878072C>G	CA351319551	AGXT	c.993C>G (p.Asp331Glu) n.771C>G
2	g.240878072C>T	CA432026256	AGXT	c.993C>T (p.Asp331=) n.771C>T	gnomAD v4
2	g.240878073T>A	CA351319552	AGXT	c.994T>A (p.Trp332Arg) n.772T>A
2	g.240878073T>C	CA351319553	AGXT	c.994T>C (p.Trp332Arg) n.772T>C
2	g.240878073T>G	CA351319554	AGXT	c.994T>G (p.Trp332Gly) n.772T>G
2	g.240878073_240878074del	CA2695197712	AGXT	c.994_995del (p.Trp332GlufsTer14) n.772_773del	ClinVar
2	g.240878074G>A	CA351319555	AGXT	c.995G>A (p.Trp332Ter) n.773G>A	gnomAD v4
2	g.240878074G>C	CA351319556	AGXT	c.995G>C (p.Trp332Ser) n.773G>C
2	g.240878074G>T	CA351319557	AGXT	c.995G>T (p.Trp332Leu) n.773G>T
2	g.240878075G>A	CA275769	AGXT	c.996G>A (p.Trp332Ter) n.774G>A	ClinVar dbSNP gnomAD v4
2	g.240878075G>C	CA68180843	AGXT	c.996G>C (p.Trp332Cys) n.774G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878075G=	CA1339335777	AGXT	c.996G= (p.Trp332=) n.774G=
2	g.240878075G>T	CA351319558	AGXT	c.996G>T (p.Trp332Cys) n.774G>T
2	g.240878076A=	CA1339335778	AGXT	c.997A= (p.Arg333=) n.775A=
2	g.240878076A>C	CA432026262	AGXT	c.997A>C (p.Arg333=) n.775A>C	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240878076A>G	CA351319559	AGXT	c.997A>G (p.Arg333Gly) n.775A>G
2	g.240878076A>T	CA275772	AGXT	c.997A>T (p.Arg333Ter) n.775A>T	ClinVar dbSNP
2	g.240878077G>A	CA351319560	AGXT	c.998G>A (p.Arg333Lys) n.776G>A
2	g.240878077G>C	CA351319561	AGXT	c.998G>C (p.Arg333Thr) n.776G>C
2	g.240878077G>T	CA351319562	AGXT	c.998G>T (p.Arg333Ile) n.776G>T	gnomAD v4
2	g.240878078A>C	CA351319563	AGXT	c.999A>C (p.Arg333Ser) n.777A>C
2	g.240878078A>G	CA432026269	AGXT	c.999A>G (p.Arg333=) n.777A>G
2	g.240878078A>T	CA351319564	AGXT	c.999A>T (p.Arg333Ser) n.777A>T
2	g.240878079G>A	CA2209370	AGXT	c.1000G>A (p.Asp334Asn) n.778G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878079G>C	CA351319565	AGXT	c.1000G>C (p.Asp334His) n.778G>C	dbSNP
2	g.240878079G=	CA1339335779	AGXT	c.1000G= (p.Asp334=) n.778G=
2	g.240878079G>T	CA351319566	AGXT	c.1000G>T (p.Asp334Tyr) n.778G>T
2	g.240878080A=	CA1339335780	AGXT	c.1001A= (p.Asp334=) n.779A=
2	g.240878080A>C	CA351319567	AGXT	c.1001A>C (p.Asp334Ala) n.779A>C
2	g.240878080A>G	CA2209371	AGXT	c.1001A>G (p.Asp334Gly) n.779A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878080A>T	CA351319568	AGXT	c.1001A>T (p.Asp334Val) n.779A>T
2	g.240878081C>A	CA351319569	AGXT	c.1002C>A (p.Asp334Glu) n.780C>A
2	g.240878081C=	CA1339335781	AGXT	c.1002C= (p.Asp334=) n.780C=
2	g.240878081C>G	CA351319570	AGXT	c.1002C>G (p.Asp334Glu) n.780C>G
2	g.240878081C>T	CA2209372	AGXT	c.1002C>T (p.Asp334=) n.780C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878082A>C	CA351319571	AGXT	c.1003A>C (p.Ile335Leu) n.781A>C
2	g.240878082A>G	CA351319572	AGXT	c.1003A>G (p.Ile335Val) n.781A>G
2	g.240878082A>T	CA351319573	AGXT	c.1003A>T (p.Ile335Phe) n.781A>T
2	g.240878083T>A	CA351319574	AGXT	c.1004T>A (p.Ile335Asn) n.782T>A
2	g.240878083T>C	CA351319575	AGXT	c.1004T>C (p.Ile335Thr) n.782T>C
2	g.240878083T>G	CA351319576	AGXT	c.1004T>G (p.Ile335Ser) n.782T>G
2	g.240878084C>A	CA432026287	AGXT	c.1005C>A (p.Ile335=) n.783C>A	gnomAD v4
2	g.240878084C=	CA1339335782	AGXT	c.1005C= (p.Ile335=) n.783C=
2	g.240878084C>G	CA351319577	AGXT	c.1005C>G (p.Ile335Met) n.783C>G
2	g.240878084C>T	CA432026288	AGXT	c.1005C>T (p.Ile335=) n.783C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240878085G>A	CA2209373	AGXT	c.1006G>A (p.Val336Ile) n.784G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.240878085G>C	CA351319578	AGXT	c.1006G>C (p.Val336Leu) n.784G>C
2	g.240878085G=	CA1339335783	AGXT	c.1006G= (p.Val336=) n.784G=
2	g.240878085G>T	CA351319579	AGXT	c.1006G>T (p.Val336Phe) n.784G>T
2	g.240878086T>A	CA275775	AGXT	c.1007T>A (p.Val336Asp) n.785T>A	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.240878086T>C	CA351319581	AGXT	c.1007T>C (p.Val336Ala) n.785T>C	dbSNP
2	g.240878086T>G	CA351319580	AGXT	c.1007T>G (p.Val336Gly) n.785T>G
2	g.240878086T=	CA1339335784	AGXT	c.1007T= (p.Val336=) n.785T=
2	g.240878087C>A	CA432026299	AGXT	c.1008C>A (p.Val336=) n.786C>A	dbSNP
2	g.240878087C=	CA1339335785	AGXT	c.1008C= (p.Val336=) n.786C=
2	g.240878087C>G	CA432026301	AGXT	c.1008C>G (p.Val336=) n.786C>G
2	g.240878087C>T	CA432026297	AGXT	c.1008C>T (p.Val336=) n.786C>T
2	g.240878088A>C	CA351319584	AGXT	c.1009A>C (p.Ser337Arg) n.787A>C
2	g.240878088A>G	CA351319582	AGXT	c.1009A>G (p.Ser337Gly) n.787A>G
2	g.240878088A>T	CA351319583	AGXT	c.1009A>T (p.Ser337Cys) n.787A>T
2	g.240878089G>A	CA351319585	AGXT	c.1010G>A (p.Ser337Asn) n.788G>A
2	g.240878089G>C	CA351319586	AGXT	c.1010G>C (p.Ser337Thr) n.788G>C
2	g.240878089G>T	CA351319587	AGXT	c.1010G>T (p.Ser337Ile) n.788G>T
2	g.240878090C>A	CA351319588	AGXT	c.1011C>A (p.Ser337Arg) n.789C>A
2	g.240878090C>G	CA351319589	AGXT	c.1011C>G (p.Ser337Arg) n.789C>G
2	g.240878090C>T	CA432026311	AGXT	c.1011C>T (p.Ser337=) n.789C>T
2	g.240878091T>A	CA351319590	AGXT	c.1012T>A (p.Tyr338Asn) n.790T>A	dbSNP
2	g.240878091T>C	CA351319591	AGXT	c.1012T>C (p.Tyr338His) n.790T>C
2	g.240878091T>G	CA351319592	AGXT	c.1012T>G (p.Tyr338Asp) n.790T>G
2	g.240878091T=	CA1339335786	AGXT	c.1012T= (p.Tyr338=) n.790T=
2	g.240878092A=	CA1339335787	AGXT	c.1013A= (p.Tyr338=) n.791A=
2	g.240878092A>C	CA351319593	AGXT	c.1013A>C (p.Tyr338Ser) n.791A>C
2	g.240878092A>G	CA351319594	AGXT	c.1013A>G (p.Tyr338Cys) n.791A>G
2	g.240878092A>T	CA2209374	AGXT	c.1013A>T (p.Tyr338Phe) n.791A>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.240878093C>A	CA351319595	AGXT	c.1014C>A (p.Tyr338Ter) n.792C>A	ClinVar
2	g.240878093C=	CA1339335788	AGXT	c.1014C= (p.Tyr338=) n.792C=
2	g.240878093C>G	CA275776	AGXT	c.1014C>G (p.Tyr338Ter) n.792C>G	ClinVar dbSNP
2	g.240878093C>T	CA2209375	AGXT	c.1014C>T (p.Tyr338=) n.792C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878094del	CA2586971646	AGXT	c.1015del (p.Val339SerfsTer2) n.793del
2	g.240878094G>A	CA2209376	AGXT	c.1015G>A (p.Val339Ile) n.793G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878094G>C	CA351319596	AGXT	c.1015G>C (p.Val339Leu) n.793G>C
2	g.240878094G=	CA1339335789	AGXT	c.1015G= (p.Val339=) n.793G=
2	g.240878094G>T	CA351319597	AGXT	c.1015G>T (p.Val339Phe) n.793G>T
2	g.240878095T>A	CA351319598	AGXT	c.1016T>A (p.Val339Asp) n.794T>A
2	g.240878095T>C	CA351319599	AGXT	c.1016T>C (p.Val339Ala) n.794T>C	gnomAD v4
2	g.240878095T>G	CA351319600	AGXT	c.1016T>G (p.Val339Gly) n.794T>G
2	g.240878096C>A	CA432026326	AGXT	c.1017C>A (p.Val339=) n.795C>A
2	g.240878096C>G	CA432026328	AGXT	c.1017C>G (p.Val339=) n.795C>G
2	g.240878096C>T	CA432026329	AGXT	c.1017C>T (p.Val339=) n.795C>T	gnomAD v4
2	g.240878097A>C	CA351319601	AGXT	c.1018A>C (p.Ile340Leu) n.796A>C
2	g.240878097A>G	CA351319602	AGXT	c.1018A>G (p.Ile340Val) n.796A>G
2	g.240878097A>T	CA351319603	AGXT	c.1018A>T (p.Ile340Leu) n.796A>T
2	g.240878098T>A	CA351319604	AGXT	c.1019T>A (p.Ile340Lys) n.797T>A
2	g.240878098T>C	CA2209377	AGXT	c.1019T>C (p.Ile340Thr) n.797T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878098T>G	CA351319605	AGXT	c.1019T>G (p.Ile340Arg) n.797T>G
2	g.240878098T=	CA1339335790	AGXT	c.1019T= (p.Ile340=) n.797T=
2	g.240878099A=	CA1339335791	AGXT	c.1020A= (p.Ile340=) n.798A=
2	g.240878099A>C	CA432026339	AGXT	c.1020A>C (p.Ile340=) n.798A>C
2	g.240878099A>G	CA343786	AGXT	c.1020A>G (p.Ile340Met) n.798A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.240878099A>T	CA432026341	AGXT	c.1020A>T (p.Ile340=) n.798A>T
2	g.240878100G>A	CA351319608	AGXT	c.1021G>A (p.Asp341Asn) n.799G>A
2	g.240878100G>C	CA351319606	AGXT	c.1021G>C (p.Asp341His) n.799G>C
2	g.240878100G>T	CA351319607	AGXT	c.1021G>T (p.Asp341Tyr) n.799G>T

Number of alleles fetched