Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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

Number of alleles fetched