Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6034718G>A	CA478102961	VWF	c.2655C>T (p.Phe885=) n.421-40784C>T	dbSNP
12	g.6034718G>C	CA383520025	VWF	c.2655C>G (p.Phe885Leu) n.421-40784C>G	dbSNP gnomAD v2 gnomAD v4
12	g.6034718G=	CA2013880111	VWF	c.2655C= (p.Phe885=) n.421-40784C=
12	g.6034718G>T	CA383520026	VWF	c.2655C>A (p.Phe885Leu) n.421-40784C>A
12	g.6034719A=	CA2013880113	VWF	c.2654T= (p.Phe885=) n.421-40785T=
12	g.6034719A>C	CA383520027	VWF	c.2654T>G (p.Phe885Cys) n.421-40785T>G
12	g.6034719A>G	CA232299274	VWF	c.2654T>C (p.Phe885Ser) n.421-40785T>C	dbSNP
12	g.6034719A>T	CA383520029	VWF	c.2654T>A (p.Phe885Tyr) n.421-40785T>A
12	g.6034720A=	CA2013880115	VWF	c.2653T= (p.Phe885=) n.421-40786T=
12	g.6034720A>C	CA383520030	VWF	c.2653T>G (p.Phe885Val) n.421-40786T>G	dbSNP gnomAD v3 gnomAD v4
12	g.6034720A>G	CA6402996	VWF	c.2653T>C (p.Phe885Leu) n.421-40786T>C	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6034720A>T	CA383520031	VWF	c.2653T>A (p.Phe885Ile) n.421-40786T>A
12	g.6034721C>A	CA478102965	VWF	c.2652G>T (p.Leu884=) n.421-40787G>T
12	g.6034721C=	CA2013880116	VWF	c.2652G= (p.Leu884=) n.421-40787G=
12	g.6034721C>G	CA478102964	VWF	c.2652G>C (p.Leu884=) n.421-40787G>C	gnomAD v4
12	g.6034721C>T	CA6402997	VWF	c.2652G>A (p.Leu884=) n.421-40787G>A	dbSNP ExAC gnomAD v2
12	g.6034722A=	CA2013880117	VWF	c.2651T= (p.Leu884=) n.421-40788T=
12	g.6034722A>C	CA6402998	VWF	c.2651T>G (p.Leu884Arg) n.421-40788T>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6034722A>G	CA383520032	VWF	c.2651T>C (p.Leu884Pro) n.421-40788T>C	gnomAD v4
12	g.6034722A>T	CA383520033	VWF	c.2651T>A (p.Leu884Gln) n.421-40788T>A
12	g.6034723G>A	CA478102967	VWF	c.2650C>T (p.Leu884=) n.421-40789C>T
12	g.6034723G>C	CA383520034	VWF	c.2650C>G (p.Leu884Val) n.421-40789C>G
12	g.6034723G=	CA2013880118	VWF	c.2650C= (p.Leu884=) n.421-40789C=
12	g.6034723G>T	CA383520035	VWF	c.2650C>A (p.Leu884Met) n.421-40789C>A	COSMIC
12	g.6034723_6034724insCAAA	CA915947877	VWF	c.2649_2650insTTTG (p.Leu884PhefsTer19) n.421-40790_421-40789insTTTG	ClinVar dbSNP
12	g.6034724G>A	CA478102968	VWF	c.2649C>T (p.Tyr883=) n.421-40790C>T
12	g.6034724G>C	CA383520036	VWF	c.2649C>G (p.Tyr883Ter) n.421-40790C>G	dbSNP gnomAD v2 gnomAD v4
12	g.6034724G=	CA2013880119	VWF	c.2649C= (p.Tyr883=) n.421-40790C=
12	g.6034724G>T	CA383520037	VWF	c.2649C>A (p.Tyr883Ter) n.421-40790C>A
12	g.6034725T>A	CA383520038	VWF	c.2648A>T (p.Tyr883Phe) n.421-40791A>T
12	g.6034725T>C	CA383520039	VWF	c.2648A>G (p.Tyr883Cys) n.421-40791A>G
12	g.6034725T>G	CA383520040	VWF	c.2648A>C (p.Tyr883Ser) n.421-40791A>C
12	g.6034726A>C	CA383520041	VWF	c.2647T>G (p.Tyr883Asp) n.421-40792T>G
12	g.6034726A>G	CA383520043	VWF	c.2647T>C (p.Tyr883His) n.421-40792T>C
12	g.6034726A>T	CA383520042	VWF	c.2647T>A (p.Tyr883Asn) n.421-40792T>A
12	g.6034727T>A	CA383520044	VWF	c.2646A>T (p.Lys882Asn) n.421-40793A>T
12	g.6034727T>C	CA478102972	VWF	c.2646A>G (p.Lys882=) n.421-40793A>G	gnomAD v4
12	g.6034727T>G	CA383520045	VWF	c.2646A>C (p.Lys882Asn) n.421-40793A>C
12	g.6034729dup	CA2739271829	VWF	c.2646dup (p.Tyr883IlefsTer19) n.421-40793dup	ClinVar
12	g.6034728T>A	CA383520046	VWF	c.2645A>T (p.Lys882Ile) n.421-40794A>T
12	g.6034728T>C	CA383520047	VWF	c.2645A>G (p.Lys882Arg) n.421-40794A>G
12	g.6034728T>G	CA383520048	VWF	c.2645A>C (p.Lys882Thr) n.421-40794A>C
12	g.6034729T>A	CA383520049	VWF	c.2644A>T (p.Lys882Ter) n.421-40795A>T
12	g.6034729T>C	CA383520050	VWF	c.2644A>G (p.Lys882Glu) n.421-40795A>G	gnomAD v4
12	g.6034729T>G	CA383520051	VWF	c.2644A>C (p.Lys882Gln) n.421-40795A>C
12	g.6034730G>A	CA478102975	VWF	c.2643C>T (p.Leu881=) n.421-40796C>T	gnomAD v4
12	g.6034730G>C	CA478102976	VWF	c.2643C>G (p.Leu881=) n.421-40796C>G	dbSNP gnomAD v2
12	g.6034730G=	CA2013880120	VWF	c.2643C= (p.Leu881=) n.421-40796C=
12	g.6034730G>T	CA478102977	VWF	c.2643C>A (p.Leu881=) n.421-40796C>A
12	g.6034731A=	CA2013880122	VWF	c.2642T= (p.Leu881=) n.421-40797T=

Number of alleles fetched