Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6018501C>A	CA478494023	VWF	c.4917G>T (p.Leu1639=) n.421-24567G>T
12	g.6018501C=	CA2013872546	VWF	c.4917G= (p.Leu1639=) n.421-24567G=
12	g.6018501C>G	CA478494024	VWF	c.4917G>C (p.Leu1639=) n.421-24567G>C
12	g.6018501C>T	CA6402440	VWF	c.4917G>A (p.Leu1639=) n.421-24567G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018502A=	CA2013872547	VWF	c.4916T= (p.Leu1639=) n.421-24568T=
12	g.6018502A>C	CA383498701	VWF	c.4916T>G (p.Leu1639Arg) n.421-24568T>G
12	g.6018502A>G	CA228678	VWF	c.4916T>C (p.Leu1639Pro) n.421-24568T>C	ClinVar dbSNP
12	g.6018502A>T	CA383498702	VWF	c.4916T>A (p.Leu1639Gln) n.421-24568T>A
12	g.6018503G>A	CA478494025	VWF	c.4915C>T (p.Leu1639=) n.421-24569C>T	dbSNP gnomAD v3 gnomAD v4
12	g.6018503G>C	CA383498703	VWF	c.4915C>G (p.Leu1639Val) n.421-24569C>G
12	g.6018503G=	CA2013872548	VWF	c.4915C= (p.Leu1639=) n.421-24569C=
12	g.6018503G>T	CA383498704	VWF	c.4915C>A (p.Leu1639Met) n.421-24569C>A
12	g.6018504C>A	CA383498706	VWF	c.4914G>T (p.Glu1638Asp) n.421-24570G>T	gnomAD v4
12	g.6018504C>G	CA383498705	VWF	c.4914G>C (p.Glu1638Asp) n.421-24570G>C	gnomAD v4
12	g.6018504C>T	CA478494026	VWF	c.4914G>A (p.Glu1638=) n.421-24570G>A
12	g.6018505T>A	CA383498707	VWF	c.4913A>T (p.Glu1638Val) n.421-24571A>T
12	g.6018505T>C	CA383498708	VWF	c.4913A>G (p.Glu1638Gly) n.421-24571A>G
12	g.6018505T>G	CA383498709	VWF	c.4913A>C (p.Glu1638Ala) n.421-24571A>C
12	g.6018505_6018526delinsCAAT	CA2695196767	VWF	c.4892_4913delinsATTG (p.Gly1631_Glu1638delinsAspTrp) n.421-24592_421-24571delinsATTG
12	g.6018506C>A	CA383498710	VWF	c.4912G>T (p.Glu1638Ter) n.421-24572G>T
12	g.6018506C=	CA2013872549	VWF	c.4912G= (p.Glu1638=) n.421-24572G=
12	g.6018506C>G	CA232297755	VWF	c.4912G>C (p.Glu1638Gln) n.421-24572G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.6018506C>T	CA228676	VWF	c.4912G>A (p.Glu1638Lys) n.421-24572G>A	ClinVar dbSNP gnomAD v4
12	g.6018507C>A	CA383498712	VWF	c.4911G>T (p.Gln1637His) n.421-24573G>T
12	g.6018507C>G	CA383498711	VWF	c.4911G>C (p.Gln1637His) n.421-24573G>C
12	g.6018507C>T	CA478494027	VWF	c.4911G>A (p.Gln1637=) n.421-24573G>A
12	g.6018508T>A	CA383498713	VWF	c.4910A>T (p.Gln1637Leu) n.421-24574A>T
12	g.6018508T>C	CA383498714	VWF	c.4910A>G (p.Gln1637Arg) n.421-24574A>G
12	g.6018508T>G	CA383498715	VWF	c.4910A>C (p.Gln1637Pro) n.421-24574A>C	gnomAD v4
12	g.6018509G>A	CA383498716	VWF	c.4909C>T (p.Gln1637Ter) n.421-24575C>T
12	g.6018509G>C	CA383498717	VWF	c.4909C>G (p.Gln1637Glu) n.421-24575C>G
12	g.6018509G>T	CA383498718	VWF	c.4909C>A (p.Gln1637Lys) n.421-24575C>A	gnomAD v4
12	g.6018510C>A	CA478494028	VWF	c.4908G>T (p.Val1636=) n.421-24576G>T
12	g.6018510C>G	CA478494029	VWF	c.4908G>C (p.Val1636=) n.421-24576G>C
12	g.6018510C>T	CA478494030	VWF	c.4908G>A (p.Val1636=) n.421-24576G>A
12	g.6018511A=	CA2013872550	VWF	c.4907T= (p.Val1636=) n.421-24577T=
12	g.6018511A>C	CA383498719	VWF	c.4907T>G (p.Val1636Gly) n.421-24577T>G
12	g.6018511A>G	CA383498721	VWF	c.4907T>C (p.Val1636Ala) n.421-24577T>C	gnomAD v4
12	g.6018511A>T	CA383498720	VWF	c.4907T>A (p.Val1636Glu) n.421-24577T>A
12	g.6018512C>A	CA383498722	VWF	c.4906G>T (p.Val1636Leu) n.421-24578G>T
12	g.6018512C=	CA2013872551	VWF	c.4906G= (p.Val1636=) n.421-24578G=
12	g.6018512C>G	CA383498723	VWF	c.4906G>C (p.Val1636Leu) n.421-24578G>C	gnomAD v4
12	g.6018512C>T	CA6402441	VWF	c.4906G>A (p.Val1636Met) n.421-24578G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018513G>A	CA6402442	VWF	c.4905C>T (p.Asn1635=) n.421-24579C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018513G>C	CA383498724	VWF	c.4905C>G (p.Asn1635Lys) n.421-24579C>G
12	g.6018513G=	CA2013872552	VWF	c.4905C= (p.Asn1635=) n.421-24579C=
12	g.6018513G>T	CA383498725	VWF	c.4905C>A (p.Asn1635Lys) n.421-24579C>A
12	g.6018514T>A	CA6402443	VWF	c.4904A>T (p.Asn1635Ile) n.421-24580A>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6018514T>C	CA383498726	VWF	c.4904A>G (p.Asn1635Ser) n.421-24580A>G
12	g.6018514T>G	CA383498727	VWF	c.4904A>C (p.Asn1635Thr) n.421-24580A>C

Number of alleles fetched