Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.47286394A=	CA2262606021	ITGB3	c.749A= (p.Asp250=) c.714A=
17	g.47286394A>C	CA400023650	ITGB3	c.749A>C (p.Asp250Ala) c.714A>C
17	g.47286394A>G	CA16043530	ITGB3	c.749A>G (p.Asp250Gly) c.714A>G	ClinVar dbSNP
17	g.47286394A>T	CA400023649	ITGB3	c.749A>T (p.Asp250Val) c.714A>T	dbSNP
17	g.47286395T>A	CA400023651	ITGB3	c.750T>A (p.Asp250Glu) c.715T>A	dbSNP
17	g.47286395T>C	CA500432035	ITGB3	c.750T>C (p.Asp250=) c.715T>C	gnomAD v4
17	g.47286395T>G	CA400023652	ITGB3	c.750T>G (p.Asp250Glu) c.715T>G	gnomAD v4
17	g.47286395T=	CA2262606022	ITGB3	c.750T= (p.Asp250=) c.715T=
17	g.47286395_47286397dup	CA2576302256	ITGB3	c.750_752dup (p.Ala251_Ile252insAla) c.715_717dup
17	g.47286396G>A	CA400023653	ITGB3	c.751G>A (p.Ala251Thr) c.716G>A
17	g.47286396G>C	CA400023654	ITGB3	c.751G>C (p.Ala251Pro) c.716G>C
17	g.47286396G=	CA2262606023	ITGB3	c.751G= (p.Ala251=) c.716G=
17	g.47286396G>T	CA400023655	ITGB3	c.751G>T (p.Ala251Ser) c.716G>T	dbSNP gnomAD v2
17	g.47286396_47286397insTAG	CA626684843	ITGB3	c.751_752insTAG (p.Asp250_Ala251insVal) c.716_717insTAG	dbSNP gnomAD v2 gnomAD v4
17	g.47286397C>A	CA400023656	ITGB3	c.752C>A (p.Ala251Asp) c.717C>A
17	g.47286397C>G	CA400023657	ITGB3	c.752C>G (p.Ala251Gly) c.717C>G
17	g.47286397C>T	CA400023658	ITGB3	c.752C>T (p.Ala251Val) c.717C>T
17	g.47286398C>A	CA500432038	ITGB3	c.753C>A (p.Ala251=) c.718C>A
17	g.47286398C>G	CA500432036	ITGB3	c.753C>G (p.Ala251=) c.718C>G
17	g.47286398C>T	CA500432037	ITGB3	c.753C>T (p.Ala251=) c.718C>T
17	g.47286399A=	CA2262606024	ITGB3	c.754A= (p.Ile252=) c.719A=
17	g.47286399A>C	CA400023659	ITGB3	c.754A>C (p.Ile252Leu) c.719A>C
17	g.47286399A>G	CA8623033	ITGB3	c.754A>G (p.Ile252Val) c.719A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.47286399A>T	CA400023660	ITGB3	c.754A>T (p.Ile252Phe) c.719A>T
17	g.47286400T>A	CA400023661	ITGB3	c.755T>A (p.Ile252Asn) c.720T>A	gnomAD v4
17	g.47286400T>C	CA400023662	ITGB3	c.755T>C (p.Ile252Thr) c.720T>C
17	g.47286400T>G	CA400023663	ITGB3	c.755T>G (p.Ile252Ser) c.720T>G
17	g.47286401del	CA923726221	ITGB3	c.756del (p.Met253CysfsTer?) c.721del	ClinVar dbSNP
17	g.47286401C>A	CA500432039	ITGB3	c.756C>A (p.Ile252=) c.721C>A
17	g.47286401C=	CA2262606025	ITGB3	c.756C= (p.Ile252=) c.721C=
17	g.47286401C>G	CA400023664	ITGB3	c.756C>G (p.Ile252Met) c.721C>G
17	g.47286401C>T	CA500432040	ITGB3	c.756C>T (p.Ile252=) c.721C>T	dbSNP
17	g.47286402A=	CA2262606026	ITGB3	c.757A= (p.Met253=) c.722A=
17	g.47286402A>C	CA400023665	ITGB3	c.757A>C (p.Met253Leu) c.722A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.47286402A>G	CA400023666	ITGB3	c.757A>G (p.Met253Val) c.722A>G	gnomAD v4
17	g.47286402A>T	CA400023667	ITGB3	c.757A>T (p.Met253Leu) c.722A>T	dbSNP gnomAD v2 gnomAD v4
17	g.47286403T>A	CA400023668	ITGB3	c.758T>A (p.Met253Lys) c.723T>A
17	g.47286403T>C	CA400023669	ITGB3	c.758T>C (p.Met253Thr) c.723T>C	gnomAD v4
17	g.47286403T>G	CA400023670	ITGB3	c.758T>G (p.Met253Arg) c.723T>G
17	g.47286404G>A	CA400023671	ITGB3	c.759G>A (p.Met253Ile) c.724G>A
17	g.47286404G>C	CA400023672	ITGB3	c.759G>C (p.Met253Ile) c.724G>C
17	g.47286404G>T	CA400023673	ITGB3	c.759G>T (p.Met253Ile) c.724G>T
17	g.47286405C>A	CA400023674	ITGB3	c.760C>A (p.Gln254Lys) c.725C>A	ClinVar dbSNP
17	g.47286405C=	CA2262606027	ITGB3	c.760C= (p.Gln254=) c.725C=
17	g.47286405C>G	CA400023675	ITGB3	c.760C>G (p.Gln254Glu) c.725C>G	gnomAD v4
17	g.47286405C>T	CA400023676	ITGB3	c.760C>T (p.Gln254Ter) c.725C>T
17	g.47286406A=	CA2262606028	ITGB3	c.761A= (p.Gln254=) c.726A=
17	g.47286406A>C	CA400023679	ITGB3	c.761A>C (p.Gln254Pro) c.726A>C
17	g.47286406A>G	CA400023678	ITGB3	c.761A>G (p.Gln254Arg) c.726A>G	ClinVar dbSNP
17	g.47286406A>T	CA400023677	ITGB3	c.761A>T (p.Gln254Leu) c.726A>T

Number of alleles fetched