Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.26599491C>A	CA411027317	CRYBB1	c.758G>T (p.Ter253Leu)
22	g.26599491C>G	CA411027314	CRYBB1	c.758G>C (p.Ter253Ser)
22	g.26599491C>T	CA513921648	CRYBB1	c.758G>A (p.Ter253=)
22	g.26599492A=	CA2399267241	CRYBB1	c.757T= (p.Ter253=)
22	g.26599492A>C	CA411027319	CRYBB1	c.757T>G (p.Ter253Gly)
22	g.26599492A>G	CA411027322	CRYBB1	c.757T>C (p.Ter253Arg)	ClinVar dbSNP gnomAD v4
22	g.26599492A>T	CA411027324	CRYBB1	c.757T>A (p.Ter253Arg)
22	g.26599493C>A	CA411027327	CRYBB1	c.756G>T (p.Lys252Asn)
22	g.26599493C=	CA2399267242	CRYBB1	c.756G= (p.Lys252=)
22	g.26599493C>G	CA411027330	CRYBB1	c.756G>C (p.Lys252Asn)
22	g.26599493C>T	CA322860666	CRYBB1	c.756G>A (p.Lys252=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.26599494T>A	CA411027333	CRYBB1	c.755A>T (p.Lys252Met)
22	g.26599494T>C	CA10165350	CRYBB1	c.755A>G (p.Lys252Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.26599494T>G	CA411027336	CRYBB1	c.755A>C (p.Lys252Thr)
22	g.26599494T=	CA2399267243	CRYBB1	c.755A= (p.Lys252=)
22	g.26599495T>A	CA411027340	CRYBB1	c.754A>T (p.Lys252Ter)
22	g.26599495T>C	CA411027342	CRYBB1	c.754A>G (p.Lys252Glu)
22	g.26599495T>G	CA411027345	CRYBB1	c.754A>C (p.Lys252Gln)
22	g.26599496G>A	CA513921668	CRYBB1	c.753C>T (p.Pro251=)
22	g.26599496G>C	CA513921669	CRYBB1	c.753C>G (p.Pro251=)
22	g.26599496G=	CA2399267244	CRYBB1	c.753C= (p.Pro251=)
22	g.26599496G>T	CA10165351	CRYBB1	c.753C>A (p.Pro251=)	dbSNP ExAC gnomAD v3 gnomAD v4
22	g.26599501dup	CA645615945	CRYBB1	c.753dup (p.Lys252GlnfsTer?)	ClinVar gnomAD v4 COSMIC
22	g.26599497G>A	CA411027349	CRYBB1	c.752C>T (p.Pro251Leu)
22	g.26599497G>C	CA411027351	CRYBB1	c.752C>G (p.Pro251Arg)
22	g.26599497G>T	CA411027353	CRYBB1	c.752C>A (p.Pro251His)
22	g.26599498G>A	CA322860668	CRYBB1	c.751C>T (p.Pro251Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.26599498G>C	CA411027358	CRYBB1	c.751C>G (p.Pro251Ala)
22	g.26599498G=	CA2399267245	CRYBB1	c.751C= (p.Pro251=)
22	g.26599498G>T	CA411027361	CRYBB1	c.751C>A (p.Pro251Thr)
22	g.26599499G>A	CA10165352	CRYBB1	c.750C>T (p.Pro250=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22	g.26599499G>C	CA513921685	CRYBB1	c.750C>G (p.Pro250=)
22	g.26599499G=	CA2399267246	CRYBB1	c.750C= (p.Pro250=)
22	g.26599499G>T	CA513921687	CRYBB1	c.750C>A (p.Pro250=)
22	g.26599500G>A	CA411027366	CRYBB1	c.749C>T (p.Pro250Leu)
22	g.26599500G>C	CA411027370	CRYBB1	c.749C>G (p.Pro250Arg)
22	g.26599500G=	CA2399267247	CRYBB1	c.749C= (p.Pro250=)
22	g.26599500G>T	CA10165353	CRYBB1	c.749C>A (p.Pro250His)	dbSNP ExAC gnomAD v4
22	g.26599501G>A	CA411027372	CRYBB1	c.748C>T (p.Pro250Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.26599501G>C	CA10165354	CRYBB1	c.748C>G (p.Pro250Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.26599501G=	CA2399267248	CRYBB1	c.748C= (p.Pro250=)
22	g.26599501G>T	CA411027376	CRYBB1	c.748C>A (p.Pro250Thr)
22	g.26599502C>A	CA411027380	CRYBB1	c.747G>T (p.Glu249Asp)
22	g.26599502C>G	CA411027383	CRYBB1	c.747G>C (p.Glu249Asp)
22	g.26599502C>T	CA513921700	CRYBB1	c.747G>A (p.Glu249=)	gnomAD v4
22	g.26599503T>A	CA411027387	CRYBB1	c.746A>T (p.Glu249Val)
22	g.26599503T>C	CA411027388	CRYBB1	c.746A>G (p.Glu249Gly)
22	g.26599503T>G	CA411027389	CRYBB1	c.746A>C (p.Glu249Ala)
22	g.26599504C>A	CA411027392	CRYBB1	c.745G>T (p.Glu249Ter)
22	g.26599504C>G	CA411027395	CRYBB1	c.745G>C (p.Glu249Gln)

Number of alleles fetched