Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240878061_240878067delinsGCTGGCT	CA1339335770	AGXT	c.982_988delinsGCTGGCT (p.Ala328=) n.760_766delinsGCTGGCT
2	g.240878062_240878067del	CA275863	AGXT	c.983_988del (p.Ala328_Tyr330delinsAsp) n.761_766del	ClinVar dbSNP
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=

Number of alleles fetched