Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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

Number of alleles fetched