Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.47286384_47286386delinsGGT	CA2262606016	ITGB3	c.739_741delinsGGT (p.Gly247=) c.704_706delinsGGT
17	g.47286385G>A	CA123256	ITGB3	c.740G>A (p.Gly247Asp) c.705G>A	ClinVar dbSNP
17	g.47286385G>C	CA400023630	ITGB3	c.740G>C (p.Gly247Ala) c.705G>C
17	g.47286385G=	CA2262606017	ITGB3	c.740G= (p.Gly247=) c.705G=
17	g.47286385G>T	CA400023631	ITGB3	c.740G>T (p.Gly247Val) c.705G>T
17	g.47286386_47286387del	CA626684841	ITGB3	c.741_742del (p.Gly248LeufsTer2) c.706_707del	dbSNP gnomAD v2 gnomAD v4
17	g.47286386T>A	CA500432029	ITGB3	c.741T>A (p.Gly247=) c.706T>A
17	g.47286386T>C	CA500432030	ITGB3	c.741T>C (p.Gly247=) c.706T>C
17	g.47286386T>G	CA500432031	ITGB3	c.741T>G (p.Gly247=) c.706T>G
17	g.47286387G>A	CA400023632	ITGB3	c.742G>A (p.Gly248Ser) c.707G>A	gnomAD v4
17	g.47286387G>C	CA400023633	ITGB3	c.742G>C (p.Gly248Arg) c.707G>C
17	g.47286387G>T	CA400023634	ITGB3	c.742G>T (p.Gly248Cys) c.707G>T
17	g.47286388G>A	CA400023637	ITGB3	c.743G>A (p.Gly248Asp) c.708G>A	gnomAD v4
17	g.47286388G>C	CA400023636	ITGB3	c.743G>C (p.Gly248Ala) c.708G>C
17	g.47286388G>T	CA400023635	ITGB3	c.743G>T (p.Gly248Val) c.708G>T
17	g.47286389C>A	CA500432032	ITGB3	c.744C>A (p.Gly248=) c.709C>A
17	g.47286389C=	CA2262606018	ITGB3	c.744C= (p.Gly248=) c.709C=
17	g.47286389C>G	CA500432033	ITGB3	c.744C>G (p.Gly248=) c.709C>G
17	g.47286389C>T	CA8623032	ITGB3	c.744C>T (p.Gly248=) c.709C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.47286389_47286393delinsCTTTG	CA2262606019	ITGB3	c.744_748delinsCTTTG (p.Gly248=) c.709_713delinsCTTTG
17	g.47286390T>A	CA400023638	ITGB3	c.745T>A (p.Phe249Ile) c.710T>A
17	g.47286390T>C	CA400023639	ITGB3	c.745T>C (p.Phe249Leu) c.710T>C
17	g.47286390T>G	CA400023640	ITGB3	c.745T>G (p.Phe249Val) c.710T>G
17	g.47286390_47286393del	CA626684842	ITGB3	c.745_748del (p.Phe249MetfsTer?) c.710_713del	dbSNP gnomAD v2 gnomAD v4
17	g.47286391T>A	CA400023641	ITGB3	c.746T>A (p.Phe249Tyr) c.711T>A	dbSNP
17	g.47286391T>C	CA400023642	ITGB3	c.746T>C (p.Phe249Ser) c.711T>C
17	g.47286391T>G	CA400023643	ITGB3	c.746T>G (p.Phe249Cys) c.711T>G
17	g.47286391T=	CA2262606020	ITGB3	c.746T= (p.Phe249=) c.711T=
17	g.47286392T>A	CA400023644	ITGB3	c.747T>A (p.Phe249Leu) c.712T>A
17	g.47286392T>C	CA500432034	ITGB3	c.747T>C (p.Phe249=) c.712T>C
17	g.47286392T>G	CA400023645	ITGB3	c.747T>G (p.Phe249Leu) c.712T>G
17	g.47286393G>A	CA400023646	ITGB3	c.748G>A (p.Asp250Asn) c.713G>A
17	g.47286393G>C	CA400023647	ITGB3	c.748G>C (p.Asp250His) c.713G>C	ClinVar
17	g.47286393G>T	CA400023648	ITGB3	c.748G>T (p.Asp250Tyr) c.713G>T
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

Number of alleles fetched