Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6018397_6018423del	CA2617229996	VWF	c.5003_5029del (p.Arg1668_Gln1676del) n.421-24481_421-24455del	gnomAD v4
12	g.6018409C>A	CA383498507	VWF	c.5009G>T (p.Cys1670Phe) n.421-24475G>T	gnomAD v4
12	g.6018409C=	CA2013872501	VWF	c.5009G= (p.Cys1670=) n.421-24475G=
12	g.6018409C>G	CA6402425	VWF	c.5009G>C (p.Cys1670Ser) n.421-24475G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.6018409C>T	CA383498508	VWF	c.5009G>A (p.Cys1670Tyr) n.421-24475G>A	gnomAD v4
12	g.6018410A>C	CA383498509	VWF	c.5008T>G (p.Cys1670Gly) n.421-24476T>G
12	g.6018410A>G	CA383498510	VWF	c.5008T>C (p.Cys1670Arg) n.421-24476T>C	gnomAD v4
12	g.6018410A>T	CA383498511	VWF	c.5008T>A (p.Cys1670Ser) n.421-24476T>A
12	g.6018411G>A	CA478493965	VWF	c.5007C>T (p.Cys1669=) n.421-24477C>T	COSMIC
12	g.6018411G>C	CA383498512	VWF	c.5007C>G (p.Cys1669Trp) n.421-24477C>G	dbSNP gnomAD v2 gnomAD v4
12	g.6018411G=	CA2013872502	VWF	c.5007C= (p.Cys1669=) n.421-24477C=
12	g.6018411G>T	CA383498513	VWF	c.5007C>A (p.Cys1669Ter) n.421-24477C>A	gnomAD v4
12	g.6018412C>A	CA383498514	VWF	c.5006G>T (p.Cys1669Phe) n.421-24478G>T
12	g.6018412C>G	CA383498515	VWF	c.5006G>C (p.Cys1669Ser) n.421-24478G>C	gnomAD v4
12	g.6018412C>T	CA383498516	VWF	c.5006G>A (p.Cys1669Tyr) n.421-24478G>A
12	g.6018413A>C	CA383498519	VWF	c.5005T>G (p.Cys1669Gly) n.421-24479T>G
12	g.6018413A>G	CA383498518	VWF	c.5005T>C (p.Cys1669Arg) n.421-24479T>C
12	g.6018413A>T	CA383498517	VWF	c.5005T>A (p.Cys1669Ser) n.421-24479T>A
12	g.6018414C>A	CA228694	VWF	c.5004G>T (p.Arg1668Ser) n.421-24480G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018414C=	CA2013872503	VWF	c.5004G= (p.Arg1668=) n.421-24480G=
12	g.6018414C>G	CA383498520	VWF	c.5004G>C (p.Arg1668Ser) n.421-24480G>C
12	g.6018414C>T	CA6402426	VWF	c.5004G>A (p.Arg1668=) n.421-24480G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018415C>A	CA383498521	VWF	c.5003G>T (p.Arg1668Met) n.421-24481G>T
12	g.6018415C>G	CA383498523	VWF	c.5003G>C (p.Arg1668Thr) n.421-24481G>C
12	g.6018415C>T	CA383498522	VWF	c.5003G>A (p.Arg1668Lys) n.421-24481G>A	gnomAD v4
12	g.6018416T>A	CA383498524	VWF	c.5002A>T (p.Arg1668Trp) n.421-24482A>T
12	g.6018416T>C	CA383498525	VWF	c.5002A>G (p.Arg1668Gly) n.421-24482A>G
12	g.6018416T>G	CA478493966	VWF	c.5002A>C (p.Arg1668=) n.421-24482A>C	gnomAD v4
12	g.6018416dup	CA2617230086	VWF	c.5002dup (p.Arg1668LysfsTer18) n.421-24482dup	gnomAD v4
12	g.6018417C>A	CA383498526	VWF	c.5001G>T (p.Gln1667His) n.421-24483G>T	dbSNP gnomAD v2 gnomAD v4
12	g.6018417C=	CA2013872504	VWF	c.5001G= (p.Gln1667=) n.421-24483G=
12	g.6018417C>G	CA383498527	VWF	c.5001G>C (p.Gln1667His) n.421-24483G>C
12	g.6018417C>T	CA6402427	VWF	c.5001G>A (p.Gln1667=) n.421-24483G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018418T>A	CA383498528	VWF	c.5000A>T (p.Gln1667Leu) n.421-24484A>T
12	g.6018418T>C	CA383498530	VWF	c.5000A>G (p.Gln1667Arg) n.421-24484A>G	gnomAD v4
12	g.6018418T>G	CA383498529	VWF	c.5000A>C (p.Gln1667Pro) n.421-24484A>C
12	g.6018419G>A	CA383498531	VWF	c.4999C>T (p.Gln1667Ter) n.421-24485C>T	dbSNP gnomAD v2 gnomAD v4
12	g.6018419G>C	CA383498532	VWF	c.4999C>G (p.Gln1667Glu) n.421-24485C>G	dbSNP gnomAD v2 gnomAD v4
12	g.6018419G=	CA2013872505	VWF	c.4999C= (p.Gln1667=) n.421-24485C=
12	g.6018419G>T	CA383498533	VWF	c.4999C>A (p.Gln1667Lys) n.421-24485C>A	gnomAD v4
12	g.6018420C>A	CA478493967	VWF	c.4998G>T (p.Leu1666=) n.421-24486G>T
12	g.6018420C>G	CA478493968	VWF	c.4998G>C (p.Leu1666=) n.421-24486G>C
12	g.6018420C>T	CA478493969	VWF	c.4998G>A (p.Leu1666=) n.421-24486G>A	gnomAD v4
12	g.6018421A>C	CA383498534	VWF	c.4997T>G (p.Leu1666Arg) n.421-24487T>G
12	g.6018421A>G	CA383498535	VWF	c.4997T>C (p.Leu1666Pro) n.421-24487T>C
12	g.6018421A>T	CA383498536	VWF	c.4997T>A (p.Leu1666Gln) n.421-24487T>A
12	g.6018422G>A	CA478493970	VWF	c.4996C>T (p.Leu1666=) n.421-24488C>T	gnomAD v4
12	g.6018422G>C	CA383498538	VWF	c.4996C>G (p.Leu1666Val) n.421-24488C>G	COSMIC
12	g.6018422G>T	CA383498537	VWF	c.4996C>A (p.Leu1666Met) n.421-24488C>A
12	g.6018423C>A	CA478493973	VWF	c.4995G>T (p.Val1665=) n.421-24489G>T

Number of alleles fetched