Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6057853G>A	CA478103993	VWF	c.1725C>T (p.Arg575=) n.420+52662C>T
12	g.6057853G>C	CA478103992	VWF	c.1725C>G (p.Arg575=) n.420+52662C>G
12	g.6057853G>T	CA478103991	VWF	c.1725C>A (p.Arg575=) n.420+52662C>A
12	g.6057854C>A	CA383497829	VWF	c.1724G>T (p.Arg575Leu) n.420+52661G>T	gnomAD v4
12	g.6057854C>G	CA383497832	VWF	c.1724G>C (p.Arg575Pro) n.420+52661G>C
12	g.6057854C>T	CA383497842	VWF	c.1724G>A (p.Arg575His) n.420+52661G>A	gnomAD v4
12	g.6057855G>A	CA383497845	VWF	c.1723C>T (p.Arg575Cys) n.420+52660C>T	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.6057855G>C	CA6403296	VWF	c.1723C>G (p.Arg575Gly) n.420+52660C>G	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057855G=	CA2013891869	VWF	c.1723C= (p.Arg575=) n.420+52660C=
12	g.6057855G>T	CA383497848	VWF	c.1723C>A (p.Arg575Ser) n.420+52660C>A	dbSNP gnomAD v4
12	g.6057856del	CA2617232668	VWF	c.1722del (p.Arg575AlafsTer2) n.420+52659del	gnomAD v4
12	g.6057856C>A	CA478103994	VWF	c.1722G>T (p.Pro574=) n.420+52659G>T	dbSNP gnomAD v4
12	g.6057856C=	CA2013891876	VWF	c.1722G= (p.Pro574=) n.420+52659G=
12	g.6057856C>G	CA478103995	VWF	c.1722G>C (p.Pro574=) n.420+52659G>C
12	g.6057856C>T	CA6403297	VWF	c.1722G>A (p.Pro574=) n.420+52659G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.6057857_6057897dup	CA2617232667	VWF	c.1682_1722dup (p.Arg575ThrfsTer16) n.420+52619_420+52659dup	gnomAD v4
12	g.6057857G>A	CA383497853	VWF	c.1721C>T (p.Pro574Leu) n.420+52658C>T	dbSNP gnomAD v4
12	g.6057857G>C	CA383497856	VWF	c.1721C>G (p.Pro574Arg) n.420+52658C>G
12	g.6057857G=	CA2013891880	VWF	c.1721C= (p.Pro574=) n.420+52658C=
12	g.6057857G>T	CA383497858	VWF	c.1721C>A (p.Pro574Gln) n.420+52658C>A
12	g.6057858G>A	CA383497862	VWF	c.1720C>T (p.Pro574Ser) n.420+52657C>T	dbSNP gnomAD v4
12	g.6057858G>C	CA383497865	VWF	c.1720C>G (p.Pro574Ala) n.420+52657C>G
12	g.6057858G>T	CA383497875	VWF	c.1720C>A (p.Pro574Thr) n.420+52657C>A	gnomAD v4
12	g.6057859G>A	CA478103996	VWF	c.1719C>T (p.Asn573=) n.420+52656C>T	dbSNP
12	g.6057859G>C	CA383497882	VWF	c.1719C>G (p.Asn573Lys) n.420+52656C>G	gnomAD v4
12	g.6057859G=	CA2013891882	VWF	c.1719C= (p.Asn573=) n.420+52656C=
12	g.6057859G>T	CA383497879	VWF	c.1719C>A (p.Asn573Lys) n.420+52656C>A
12	g.6057860T>A	CA383497885	VWF	c.1718A>T (p.Asn573Ile) n.420+52655A>T
12	g.6057860T>C	CA383497888	VWF	c.1718A>G (p.Asn573Ser) n.420+52655A>G
12	g.6057860T>G	CA383497894	VWF	c.1718A>C (p.Asn573Thr) n.420+52655A>C
12	g.6057861T>A	CA383497897	VWF	c.1717A>T (p.Asn573Tyr) n.420+52654A>T
12	g.6057861T>C	CA383497900	VWF	c.1717A>G (p.Asn573Asp) n.420+52654A>G
12	g.6057861T>G	CA383497903	VWF	c.1717A>C (p.Asn573His) n.420+52654A>C
12	g.6057862G>A	CA478103997	VWF	c.1716C>T (p.Leu572=) n.420+52653C>T
12	g.6057862G>C	CA478103998	VWF	c.1716C>G (p.Leu572=) n.420+52653C>G
12	g.6057862G>T	CA478103999	VWF	c.1716C>A (p.Leu572=) n.420+52653C>A
12	g.6057863A>C	CA383497906	VWF	c.1715T>G (p.Leu572Arg) n.420+52652T>G
12	g.6057863A>G	CA383497907	VWF	c.1715T>C (p.Leu572Pro) n.420+52652T>C	gnomAD v4
12	g.6057863A>T	CA383497909	VWF	c.1715T>A (p.Leu572His) n.420+52652T>A
12	g.6057864G>A	CA383497912	VWF	c.1714C>T (p.Leu572Phe) n.420+52651C>T	gnomAD v4
12	g.6057864G>C	CA383497915	VWF	c.1714C>G (p.Leu572Val) n.420+52651C>G
12	g.6057864G>T	CA383497919	VWF	c.1714C>A (p.Leu572Ile) n.420+52651C>A
12	g.6057865G>A	CA478104000	VWF	c.1713C>T (p.Ala571=) n.420+52650C>T	dbSNP gnomAD v2 gnomAD v4
12	g.6057865G>C	CA478104002	VWF	c.1713C>G (p.Ala571=) n.420+52650C>G	gnomAD v4
12	g.6057865G=	CA2013891884	VWF	c.1713C= (p.Ala571=) n.420+52650C=
12	g.6057865G>T	CA478104001	VWF	c.1713C>A (p.Ala571=) n.420+52650C>A
12	g.6057866G>A	CA383497922	VWF	c.1712C>T (p.Ala571Val) n.420+52649C>T	dbSNP gnomAD v4
12	g.6057866G>C	CA383497926	VWF	c.1712C>G (p.Ala571Gly) n.420+52649C>G
12	g.6057866G=	CA2013891888	VWF	c.1712C= (p.Ala571=) n.420+52649C=
12	g.6057866G>T	CA383497924	VWF	c.1712C>A (p.Ala571Asp) n.420+52649C>A
12	g.6057867C>A	CA383497928	VWF	c.1711G>T (p.Ala571Ser) n.420+52648G>T	gnomAD v4
12	g.6057867C=	CA2013891891	VWF	c.1711G= (p.Ala571=) n.420+52648G=
12	g.6057867C>G	CA6403298	VWF	c.1711G>C (p.Ala571Pro) n.420+52648G>C	dbSNP ExAC gnomAD v2
12	g.6057867C>T	CA383497931	VWF	c.1711G>A (p.Ala571Thr) n.420+52648G>A	dbSNP
12	g.6057868G>A	CA478104003	VWF	c.1710C>T (p.Cys570=) n.420+52647C>T	gnomAD v4 COSMIC
12	g.6057868G>C	CA383497936	VWF	c.1710C>G (p.Cys570Trp) n.420+52647C>G
12	g.6057868G>T	CA383497938	VWF	c.1710C>A (p.Cys570Ter) n.420+52647C>A	gnomAD v4
12	g.6057869C>A	CA383497939	VWF	c.1709G>T (p.Cys570Phe) n.420+52646G>T
12	g.6057869C=	CA2013891895	VWF	c.1709G= (p.Cys570=) n.420+52646G=
12	g.6057869C>G	CA228280	VWF	c.1709G>C (p.Cys570Ser) n.420+52646G>C	ClinVar dbSNP
12	g.6057869C>T	CA383497944	VWF	c.1709G>A (p.Cys570Tyr) n.420+52646G>A
12	g.6057870A>C	CA383497947	VWF	c.1708T>G (p.Cys570Gly) n.420+52645T>G
12	g.6057870A>G	CA383497949	VWF	c.1708T>C (p.Cys570Arg) n.420+52645T>C	ClinVar dbSNP
12	g.6057870A>T	CA383497951	VWF	c.1708T>A (p.Cys570Ser) n.420+52645T>A
12	g.6057871G>A	CA478104005	VWF	c.1707C>T (p.Pro569=) n.420+52644C>T	dbSNP gnomAD v3 gnomAD v4
12	g.6057871G>C	CA478104006	VWF	c.1707C>G (p.Pro569=) n.420+52644C>G
12	g.6057871G=	CA2013891900	VWF	c.1707C= (p.Pro569=) n.420+52644C=
12	g.6057871G>T	CA478104007	VWF	c.1707C>A (p.Pro569=) n.420+52644C>A
12	g.6057872G>A	CA6403299	VWF	c.1706C>T (p.Pro569Leu) n.420+52643C>T	dbSNP ExAC gnomAD v2
12	g.6057872G>C	CA383497954	VWF	c.1706C>G (p.Pro569Arg) n.420+52643C>G
12	g.6057872G=	CA2013891903	VWF	c.1706C= (p.Pro569=) n.420+52643C=
12	g.6057872G>T	CA383497957	VWF	c.1706C>A (p.Pro569His) n.420+52643C>A
12	g.6057873G>A	CA383497963	VWF	c.1705C>T (p.Pro569Ser) n.420+52642C>T
12	g.6057873G>C	CA383497965	VWF	c.1705C>G (p.Pro569Ala) n.420+52642C>G	gnomAD v4
12	g.6057873G>T	CA383497971	VWF	c.1705C>A (p.Pro569Thr) n.420+52642C>A	gnomAD v4
12	g.6057874A=	CA2013891906	VWF	c.1704T= (p.Asp568=) n.420+52641T=
12	g.6057874A>C	CA383497976	VWF	c.1704T>G (p.Asp568Glu) n.420+52641T>G
12	g.6057874A>G	CA478104008	VWF	c.1704T>C (p.Asp568=) n.420+52641T>C	dbSNP
12	g.6057874A>T	CA383497975	VWF	c.1704T>A (p.Asp568Glu) n.420+52641T>A
12	g.6057875T>A	CA383497979	VWF	c.1703A>T (p.Asp568Val) n.420+52640A>T
12	g.6057875T>C	CA383497981	VWF	c.1703A>G (p.Asp568Gly) n.420+52640A>G
12	g.6057875T>G	CA383497983	VWF	c.1703A>C (p.Asp568Ala) n.420+52640A>C
12	g.6057876C>A	CA383497985	VWF	c.1702G>T (p.Asp568Tyr) n.420+52639G>T
12	g.6057876C=	CA2013891909	VWF	c.1702G= (p.Asp568=) n.420+52639G=
12	g.6057876C>G	CA383497987	VWF	c.1702G>C (p.Asp568His) n.420+52639G>C
12	g.6057876C>T	CA383497988	VWF	c.1702G>A (p.Asp568Asn) n.420+52639G>A	dbSNP gnomAD v3 gnomAD v4
12	g.6057877G>A	CA478104009	VWF	c.1701C>T (p.Ser567=) n.420+52638C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057877G>C	CA232310558	VWF	c.1701C>G (p.Ser567Arg) n.420+52638C>G	dbSNP gnomAD v3 gnomAD v4
12	g.6057877G=	CA2013891913	VWF	c.1701C= (p.Ser567=) n.420+52638C=
12	g.6057877G>T	CA383497991	VWF	c.1701C>A (p.Ser567Arg) n.420+52638C>A
12	g.6057878C>A	CA383497993	VWF	c.1700G>T (p.Ser567Ile) n.420+52637G>T	COSMIC
12	g.6057878C>G	CA383497995	VWF	c.1700G>C (p.Ser567Thr) n.420+52637G>C
12	g.6057878C>T	CA383497997	VWF	c.1700G>A (p.Ser567Asn) n.420+52637G>A
12	g.6057879T>A	CA383498003	VWF	c.1699A>T (p.Ser567Cys) n.420+52636A>T	dbSNP gnomAD v2 gnomAD v4
12	g.6057879T>C	CA383498002	VWF	c.1699A>G (p.Ser567Gly) n.420+52636A>G
12	g.6057879T>G	CA383498000	VWF	c.1699A>C (p.Ser567Arg) n.420+52636A>C
12	g.6057879T=	CA2013891916	VWF	c.1699A= (p.Ser567=) n.420+52636A=
12	g.6057880G>A	CA478104011	VWF	c.1698C>T (p.His566=) n.420+52635C>T
12	g.6057880G>C	CA383498005	VWF	c.1698C>G (p.His566Gln) n.420+52635C>G
12	g.6057880G>T	CA383498007	VWF	c.1698C>A (p.His566Gln) n.420+52635C>A
12	g.6057881T>A	CA383498009	VWF	c.1697A>T (p.His566Leu) n.420+52634A>T
12	g.6057881T>C	CA232310560	VWF	c.1697A>G (p.His566Arg) n.420+52634A>G	dbSNP gnomAD v3 gnomAD v4
12	g.6057881T>G	CA383498011	VWF	c.1697A>C (p.His566Pro) n.420+52634A>C
12	g.6057881T=	CA2013891918	VWF	c.1697A= (p.His566=) n.420+52634A=
12	g.6057882G>A	CA383498014	VWF	c.1696C>T (p.His566Tyr) n.420+52633C>T
12	g.6057882G>C	CA383498016	VWF	c.1696C>G (p.His566Asp) n.420+52633C>G
12	g.6057882G>T	CA383498017	VWF	c.1696C>A (p.His566Asn) n.420+52633C>A	COSMIC
12	g.6057882dup	CA6403300	VWF	c.1696dup (p.His566ProfsTer?) n.420+52633dup	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057883C>A	CA383498019	VWF	c.1695G>T (p.Gln565His) n.420+52632G>T
12	g.6057883C>G	CA383498021	VWF	c.1695G>C (p.Gln565His) n.420+52632G>C
12	g.6057883C>T	CA478104012	VWF	c.1695G>A (p.Gln565=) n.420+52632G>A	gnomAD v4
12	g.6057884T>A	CA383498028	VWF	c.1694A>T (p.Gln565Leu) n.420+52631A>T
12	g.6057884T>C	CA383498024	VWF	c.1694A>G (p.Gln565Arg) n.420+52631A>G	gnomAD v4
12	g.6057884T>G	CA383498023	VWF	c.1694A>C (p.Gln565Pro) n.420+52631A>C
12	g.6057885G>A	CA383498030	VWF	c.1693C>T (p.Gln565Ter) n.420+52630C>T	ClinVar dbSNP gnomAD v4
12	g.6057885G>C	CA6403301	VWF	c.1693C>G (p.Gln565Glu) n.420+52630C>G	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057885G=	CA2013891927	VWF	c.1693C= (p.Gln565=) n.420+52630C=
12	g.6057885G>T	CA383498033	VWF	c.1693C>A (p.Gln565Lys) n.420+52630C>A
12	g.6057890_6057919del	CA2499307018	VWF	c.1664_1693del (p.Leu555_Lys564del) n.420+52601_420+52630del	gnomAD v4
12	g.6057886C>A	CA383498036	VWF	c.1692G>T (p.Lys564Asn) n.420+52629G>T
12	g.6057886C>G	CA383498038	VWF	c.1692G>C (p.Lys564Asn) n.420+52629G>C
12	g.6057886C>T	CA478104013	VWF	c.1692G>A (p.Lys564=) n.420+52629G>A
12	g.6057887T>A	CA383498040	VWF	c.1691A>T (p.Lys564Met) n.420+52628A>T
12	g.6057887T>C	CA383498042	VWF	c.1691A>G (p.Lys564Arg) n.420+52628A>G
12	g.6057887T>G	CA383498044	VWF	c.1691A>C (p.Lys564Thr) n.420+52628A>C
12	g.6057888T>A	CA383498046	VWF	c.1690A>T (p.Lys564Ter) n.420+52627A>T
12	g.6057888T>C	CA383498048	VWF	c.1690A>G (p.Lys564Glu) n.420+52627A>G	COSMIC
12	g.6057888T>G	CA6403302	VWF	c.1690A>C (p.Lys564Gln) n.420+52627A>C	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057888T=	CA2013891930	VWF	c.1690A= (p.Lys564=) n.420+52627A=
12	g.6057889C>A	CA383498051	VWF	c.1689G>T (p.Gln563His) n.420+52626G>T
12	g.6057889C>G	CA383498053	VWF	c.1689G>C (p.Gln563His) n.420+52626G>C
12	g.6057889C>T	CA478104014	VWF	c.1689G>A (p.Gln563=) n.420+52626G>A	gnomAD v4
12	g.6057890T>A	CA383498058	VWF	c.1688A>T (p.Gln563Leu) n.420+52625A>T
12	g.6057890T>C	CA383498060	VWF	c.1688A>G (p.Gln563Arg) n.420+52625A>G
12	g.6057890T>G	CA383498056	VWF	c.1688A>C (p.Gln563Pro) n.420+52625A>C
12	g.6057891G>A	CA383498066	VWF	c.1687C>T (p.Gln563Ter) n.420+52624C>T
12	g.6057891G>C	CA383498063	VWF	c.1687C>G (p.Gln563Glu) n.420+52624C>G	gnomAD v4
12	g.6057891G>T	CA383498064	VWF	c.1687C>A (p.Gln563Lys) n.420+52624C>A
12	g.6057892C>A	CA478104015	VWF	c.1686G>T (p.Leu562=) n.420+52623G>T	gnomAD v4
12	g.6057892C>G	CA478104016	VWF	c.1686G>C (p.Leu562=) n.420+52623G>C
12	g.6057892C>T	CA478104017	VWF	c.1686G>A (p.Leu562=) n.420+52623G>A	gnomAD v4
12	g.6057893A>C	CA383498067	VWF	c.1685T>G (p.Leu562Arg) n.420+52622T>G
12	g.6057893A>G	CA383498069	VWF	c.1685T>C (p.Leu562Pro) n.420+52622T>C
12	g.6057893A>T	CA383498071	VWF	c.1685T>A (p.Leu562Gln) n.420+52622T>A	gnomAD v4
12	g.6057894G>A	CA478104018	VWF	c.1684C>T (p.Leu562=) n.420+52621C>T
12	g.6057894G>C	CA383498073	VWF	c.1684C>G (p.Leu562Val) n.420+52621C>G
12	g.6057894G=	CA2013891932	VWF	c.1684C= (p.Leu562=) n.420+52621C=
12	g.6057894G>T	CA383498075	VWF	c.1684C>A (p.Leu562Met) n.420+52621C>A	dbSNP gnomAD v2 gnomAD v4
12	g.6057895G>A	CA478104019	VWF	c.1683C>T (p.Asp561=) n.420+52620C>T	dbSNP gnomAD v3 gnomAD v4
12	g.6057895G>C	CA383498078	VWF	c.1683C>G (p.Asp561Glu) n.420+52620C>G
12	g.6057895G=	CA2013891934	VWF	c.1683C= (p.Asp561=) n.420+52620C=
12	g.6057895G>T	CA383498079	VWF	c.1683C>A (p.Asp561Glu) n.420+52620C>A
12	g.6057896T>A	CA383498081	VWF	c.1682A>T (p.Asp561Val) n.420+52619A>T
12	g.6057896T>C	CA383498083	VWF	c.1682A>G (p.Asp561Gly) n.420+52619A>G
12	g.6057896T>G	CA383498085	VWF	c.1682A>C (p.Asp561Ala) n.420+52619A>C
12	g.6057897C>A	CA6403303	VWF	c.1681G>T (p.Asp561Tyr) n.420+52618G>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057897C=	CA2013891937	VWF	c.1681G= (p.Asp561=) n.420+52618G=
12	g.6057897C>G	CA383498089	VWF	c.1681G>C (p.Asp561His) n.420+52618G>C
12	g.6057897C>T	CA6403304	VWF	c.1681G>A (p.Asp561Asn) n.420+52618G>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057898C>A	CA383498091	VWF	c.1680G>T (p.Gln560His) n.420+52617G>T
12	g.6057898C>G	CA383498093	VWF	c.1680G>C (p.Gln560His) n.420+52617G>C
12	g.6057898C>T	CA478104020	VWF	c.1680G>A (p.Gln560=) n.420+52617G>A
12	g.6057899T>A	CA383498095	VWF	c.1679A>T (p.Gln560Leu) n.420+52616A>T
12	g.6057899T>C	CA6403305	VWF	c.1679A>G (p.Gln560Arg) n.420+52616A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057899T>G	CA383498098	VWF	c.1679A>C (p.Gln560Pro) n.420+52616A>C
12	g.6057899T=	CA2013891942	VWF	c.1679A= (p.Gln560=) n.420+52616A=
12	g.6057900G>A	CA383498104	VWF	c.1678C>T (p.Gln560Ter) n.420+52615C>T
12	g.6057900G>C	CA383498100	VWF	c.1678C>G (p.Gln560Glu) n.420+52615C>G
12	g.6057900G>T	CA383498102	VWF	c.1678C>A (p.Gln560Lys) n.420+52615C>A
12	g.6057901_6057910dup	CA2617232669	VWF	c.1669_1678dup (p.Gln560ArgfsTer?) n.420+52606_420+52615dup	gnomAD v4
12	g.6057901G>A	CA478104021	VWF	c.1677C>T (p.Cys559=) n.420+52614C>T
12	g.6057901G>C	CA383498106	VWF	c.1677C>G (p.Cys559Trp) n.420+52614C>G
12	g.6057901G>T	CA383498108	VWF	c.1677C>A (p.Cys559Ter) n.420+52614C>A	gnomAD v4
12	g.6057902C>A	CA383498109	VWF	c.1676G>T (p.Cys559Phe) n.420+52613G>T
12	g.6057902C=	CA2013891944	VWF	c.1676G= (p.Cys559=) n.420+52613G=
12	g.6057902C>G	CA232310581	VWF	c.1676G>C (p.Cys559Ser) n.420+52613G>C	dbSNP gnomAD v3 gnomAD v4
12	g.6057902C>T	CA383498112	VWF	c.1676G>A (p.Cys559Tyr) n.420+52613G>A
12	g.6057903A>C	CA383498118	VWF	c.1675T>G (p.Cys559Gly) n.420+52612T>G
12	g.6057903A>G	CA383498116	VWF	c.1675T>C (p.Cys559Arg) n.420+52612T>C
12	g.6057903A>T	CA383498114	VWF	c.1675T>A (p.Cys559Ser) n.420+52612T>A
12	g.6057904G>A	CA6403306	VWF	c.1674C>T (p.Asp558=) n.420+52611C>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057904G>C	CA383498121	VWF	c.1674C>G (p.Asp558Glu) n.420+52611C>G
12	g.6057904G=	CA2013891947	VWF	c.1674C= (p.Asp558=) n.420+52611C=
12	g.6057904G>T	CA383498123	VWF	c.1674C>A (p.Asp558Glu) n.420+52611C>A
12	g.6057905T>A	CA383498124	VWF	c.1673A>T (p.Asp558Val) n.420+52610A>T
12	g.6057905T>C	CA383498125	VWF	c.1673A>G (p.Asp558Gly) n.420+52610A>G
12	g.6057905T>G	CA383498126	VWF	c.1673A>C (p.Asp558Ala) n.420+52610A>C
12	g.6057906C>A	CA383498127	VWF	c.1672G>T (p.Asp558Tyr) n.420+52609G>T	dbSNP gnomAD v3 gnomAD v4
12	g.6057906C=	CA2013891951	VWF	c.1672G= (p.Asp558=) n.420+52609G=
12	g.6057906C>G	CA383498128	VWF	c.1672G>C (p.Asp558His) n.420+52609G>C	gnomAD v4
12	g.6057906C>T	CA383498129	VWF	c.1672G>A (p.Asp558Asn) n.420+52609G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057907C>A	CA478104022	VWF	c.1671G>T (p.Gly557=) n.420+52608G>T
12	g.6057907C=	CA2013891955	VWF	c.1671G= (p.Gly557=) n.420+52608G=
12	g.6057907C>G	CA6403307	VWF	c.1671G>C (p.Gly557=) n.420+52608G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057907C>T	CA478104023	VWF	c.1671G>A (p.Gly557=) n.420+52608G>A
12	g.6057908C>A	CA383498130	VWF	c.1670G>T (p.Gly557Val) n.420+52607G>T
12	g.6057908C=	CA2013891956	VWF	c.1670G= (p.Gly557=) n.420+52607G=
12	g.6057908C>G	CA383498131	VWF	c.1670G>C (p.Gly557Ala) n.420+52607G>C
12	g.6057908C>T	CA383498132	VWF	c.1670G>A (p.Gly557Glu) n.420+52607G>A	dbSNP gnomAD v3 gnomAD v4
12	g.6057909C>A	CA383498134	VWF	c.1669G>T (p.Gly557Trp) n.420+52606G>T	COSMIC
12	g.6057909C=	CA2013891958	VWF	c.1669G= (p.Gly557=) n.420+52606G=
12	g.6057909C>G	CA383498133	VWF	c.1669G>C (p.Gly557Arg) n.420+52606G>C	gnomAD v4
12	g.6057909C>T	CA232310589	VWF	c.1669G>A (p.Gly557Arg) n.420+52606G>A	ClinVar dbSNP gnomAD v4 COSMIC
12	g.6057910del	CA2617232670	VWF	c.1668del (p.His556GlnfsTer21) n.420+52605del	gnomAD v4
12	g.6057910G>A	CA6403308	VWF	c.1668C>T (p.His556=) n.420+52605C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057910G>C	CA383498135	VWF	c.1668C>G (p.His556Gln) n.420+52605C>G
12	g.6057910G=	CA2013891964	VWF	c.1668C= (p.His556=) n.420+52605C=
12	g.6057910G>T	CA383498136	VWF	c.1668C>A (p.His556Gln) n.420+52605C>A
12	g.6057911T>A	CA383498137	VWF	c.1667A>T (p.His556Leu) n.420+52604A>T
12	g.6057911T>C	CA383498138	VWF	c.1667A>G (p.His556Arg) n.420+52604A>G
12	g.6057911T>G	CA383498139	VWF	c.1667A>C (p.His556Pro) n.420+52604A>C
12	g.6057912G>A	CA383498140	VWF	c.1666C>T (p.His556Tyr) n.420+52603C>T	dbSNP gnomAD v3 gnomAD v4
12	g.6057912G>C	CA383498141	VWF	c.1666C>G (p.His556Asp) n.420+52603C>G	dbSNP gnomAD v3 gnomAD v4
12	g.6057912G=	CA2013891970	VWF	c.1666C= (p.His556=) n.420+52603C=
12	g.6057912G>T	CA383498142	VWF	c.1666C>A (p.His556Asn) n.420+52603C>A
12	g.6057913C>A	CA478104024	VWF	c.1665G>T (p.Leu555=) n.420+52602G>T	dbSNP gnomAD v2 gnomAD v4
12	g.6057913C=	CA2013891972	VWF	c.1665G= (p.Leu555=) n.420+52602G=
12	g.6057913C>G	CA478104025	VWF	c.1665G>C (p.Leu555=) n.420+52602G>C
12	g.6057913C>T	CA478104026	VWF	c.1665G>A (p.Leu555=) n.420+52602G>A	dbSNP
12	g.6057914A>C	CA383498143	VWF	c.1664T>G (p.Leu555Arg) n.420+52601T>G
12	g.6057914A>G	CA383498144	VWF	c.1664T>C (p.Leu555Pro) n.420+52601T>C
12	g.6057914A>T	CA383498145	VWF	c.1664T>A (p.Leu555Gln) n.420+52601T>A
12	g.6057915G>A	CA6403309	VWF	c.1663C>T (p.Leu555=) n.420+52600C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057915G>C	CA6403310	VWF	c.1663C>G (p.Leu555Val) n.420+52600C>G	dbSNP ExAC gnomAD v4
12	g.6057915G=	CA2013891976	VWF	c.1663C= (p.Leu555=) n.420+52600C=
12	g.6057915G>T	CA383498146	VWF	c.1663C>A (p.Leu555Met) n.420+52600C>A
12	g.6057916C>A	CA383498147	VWF	c.1662G>T (p.Lys554Asn) n.420+52599G>T
12	g.6057916C=	CA2013891979	VWF	c.1662G= (p.Lys554=) n.420+52599G=
12	g.6057916C>G	CA383498148	VWF	c.1662G>C (p.Lys554Asn) n.420+52599G>C
12	g.6057916C>T	CA478104027	VWF	c.1662G>A (p.Lys554=) n.420+52599G>A	dbSNP
12	g.6057917T>A	CA383498149	VWF	c.1661A>T (p.Lys554Met) n.420+52598A>T
12	g.6057917T>C	CA383498150	VWF	c.1661A>G (p.Lys554Arg) n.420+52598A>G	gnomAD v4
12	g.6057917T>G	CA383498151	VWF	c.1661A>C (p.Lys554Thr) n.420+52598A>C
12	g.6057918del	CA2617232671	VWF	c.1661del (p.Lys554SerfsTer23) n.420+52598del	gnomAD v4
12	g.6057918T>A	CA383498152	VWF	c.1660A>T (p.Lys554Ter) n.420+52597A>T
12	g.6057918T>C	CA383498153	VWF	c.1660A>G (p.Lys554Glu) n.420+52597A>G
12	g.6057918T>G	CA6403311	VWF	c.1660A>C (p.Lys554Gln) n.420+52597A>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057918T=	CA2013891981	VWF	c.1660A= (p.Lys554=) n.420+52597A=
12	g.6057919C>A	CA383498154	VWF	c.1659G>T (p.Trp553Cys) n.420+52596G>T
12	g.6057919C>G	CA383498155	VWF	c.1659G>C (p.Trp553Cys) n.420+52596G>C
12	g.6057919C>T	CA383498156	VWF	c.1659G>A (p.Trp553Ter) n.420+52596G>A	ClinVar dbSNP gnomAD v4
12	g.6057920C>A	CA383498157	VWF	c.1658G>T (p.Trp553Leu) n.420+52595G>T
12	g.6057920C=	CA2013891982	VWF	c.1658G= (p.Trp553=) n.420+52595G=
12	g.6057920C>G	CA383498158	VWF	c.1658G>C (p.Trp553Ser) n.420+52595G>C
12	g.6057920C>T	CA383498159	VWF	c.1658G>A (p.Trp553Ter) n.420+52595G>A	gnomAD v4
12	g.6057921A>C	CA383498162	VWF	c.1657T>G (p.Trp553Gly) n.420+52594T>G
12	g.6057921A>G	CA383498161	VWF	c.1657T>C (p.Trp553Arg) n.420+52594T>C	gnomAD v4
12	g.6057921A>T	CA383498160	VWF	c.1657T>A (p.Trp553Arg) n.420+52594T>A
12	g.6057921dup	CA228279	VWF	c.1657dup (p.Trp553LeufsTer?) n.420+52594dup	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057922G>A	CA478104030	VWF	c.1656C>T (p.Ala552=) n.420+52593C>T	gnomAD v4
12	g.6057922G>C	CA478104028	VWF	c.1656C>G (p.Ala552=) n.420+52593C>G
12	g.6057922G>T	CA478104029	VWF	c.1656C>A (p.Ala552=) n.420+52593C>A
12	g.6057923G>A	CA383498163	VWF	c.1655C>T (p.Ala552Val) n.420+52592C>T	dbSNP gnomAD v2 gnomAD v4
12	g.6057923G>C	CA383498164	VWF	c.1655C>G (p.Ala552Gly) n.420+52592C>G
12	g.6057923G=	CA2013891989	VWF	c.1655C= (p.Ala552=) n.420+52592C=
12	g.6057923G>T	CA383498165	VWF	c.1655C>A (p.Ala552Asp) n.420+52592C>A
12	g.6057924C>A	CA383498166	VWF	c.1654G>T (p.Ala552Ser) n.420+52591G>T	dbSNP gnomAD v2 gnomAD v4
12	g.6057924C=	CA2013891992	VWF	c.1654G= (p.Ala552=) n.420+52591G=
12	g.6057924C>G	CA383498167	VWF	c.1654G>C (p.Ala552Pro) n.420+52591G>C
12	g.6057924C>T	CA6403312	VWF	c.1654G>A (p.Ala552Thr) n.420+52591G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.6057925G>A	CA478104032	VWF	c.1653C>T (p.Asn551=) n.420+52590C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057925G>C	CA383498168	VWF	c.1653C>G (p.Asn551Lys) n.420+52590C>G	gnomAD v4
12	g.6057925G=	CA2013891996	VWF	c.1653C= (p.Asn551=) n.420+52590C=
12	g.6057925G>T	CA383498169	VWF	c.1653C>A (p.Asn551Lys) n.420+52590C>A	dbSNP gnomAD v2 gnomAD v4
12	g.6057926T>A	CA383498170	VWF	c.1652A>T (p.Asn551Ile) n.420+52589A>T
12	g.6057926T>C	CA383498171	VWF	c.1652A>G (p.Asn551Ser) n.420+52589A>G
12	g.6057926T>G	CA383498172	VWF	c.1652A>C (p.Asn551Thr) n.420+52589A>C
12	g.6057927T>A	CA383498173	VWF	c.1651A>T (p.Asn551Tyr) n.420+52588A>T
12	g.6057927T>C	CA383498174	VWF	c.1651A>G (p.Asn551Asp) n.420+52588A>G	gnomAD v4
12	g.6057927T>G	CA383498175	VWF	c.1651A>C (p.Asn551His) n.420+52588A>C
12	g.6057927T=	CA2013891999	VWF	c.1651A= (p.Asn551=) n.420+52588A=
12	g.6057928C>A	CA478104033	VWF	c.1650G>T (p.Gly550=) n.420+52587G>T	dbSNP gnomAD v3 gnomAD v4
12	g.6057928C=	CA2013892003	VWF	c.1650G= (p.Gly550=) n.420+52587G=
12	g.6057928C>G	CA478104034	VWF	c.1650G>C (p.Gly550=) n.420+52587G>C
12	g.6057928C>T	CA478104035	VWF	c.1650G>A (p.Gly550=) n.420+52587G>A	dbSNP gnomAD v2 gnomAD v4
12	g.6057930dup	CA232310611	VWF	c.1650dup (p.Asn551GlufsTer?) n.420+52587dup	dbSNP
12	g.6057929C>A	CA383498178	VWF	c.1649G>T (p.Gly550Val) n.420+52586G>T
12	g.6057929C>G	CA383498177	VWF	c.1649G>C (p.Gly550Ala) n.420+52586G>C
12	g.6057929C>T	CA383498176	VWF	c.1649G>A (p.Gly550Glu) n.420+52586G>A	gnomAD v4
12	g.6057930C>A	CA383498179	VWF	c.1648G>T (p.Gly550Trp) n.420+52585G>T	gnomAD v4
12	g.6057930C=	CA2013892007	VWF	c.1648G= (p.Gly550=) n.420+52585G=
12	g.6057930C>G	CA383498180	VWF	c.1648G>C (p.Gly550Arg) n.420+52585G>C	dbSNP gnomAD v3 gnomAD v4
12	g.6057930C>T	CA114156	VWF	c.1648G>A (p.Gly550Arg) n.420+52585G>A	ClinVar dbSNP gnomAD v4 COSMIC
12	g.6057931del	CA2575054075	VWF	c.1647del (p.Phe549LeufsTer28) n.420+52584del
12	g.6057931G>A	CA232310614	VWF	c.1647C>T (p.Phe549=) n.420+52584C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057931G>C	CA383498181	VWF	c.1647C>G (p.Phe549Leu) n.420+52584C>G
12	g.6057931G=	CA2013892014	VWF	c.1647C= (p.Phe549=) n.420+52584C=
12	g.6057931G>T	CA383498182	VWF	c.1647C>A (p.Phe549Leu) n.420+52584C>A	gnomAD v4
12	g.6057932A>C	CA383498183	VWF	c.1646T>G (p.Phe549Cys) n.420+52583T>G
12	g.6057932A>G	CA383498184	VWF	c.1646T>C (p.Phe549Ser) n.420+52583T>C
12	g.6057932A>T	CA383498185	VWF	c.1646T>A (p.Phe549Tyr) n.420+52583T>A
12	g.6057933A>C	CA383498186	VWF	c.1645T>G (p.Phe549Val) n.420+52582T>G
12	g.6057933A>G	CA383498187	VWF	c.1645T>C (p.Phe549Leu) n.420+52582T>C
12	g.6057933A>T	CA383498188	VWF	c.1645T>A (p.Phe549Ile) n.420+52582T>A
12	g.6057934G>A	CA478104036	VWF	c.1644C>T (p.Asp548=) n.420+52581C>T	gnomAD v4
12	g.6057934G>C	CA383498189	VWF	c.1644C>G (p.Asp548Glu) n.420+52581C>G	ClinVar gnomAD v4
12	g.6057934G>T	CA383498190	VWF	c.1644C>A (p.Asp548Glu) n.420+52581C>A
12	g.6057935T>A	CA383498193	VWF	c.1643A>T (p.Asp548Val) n.420+52580A>T
12	g.6057935T>C	CA383498191	VWF	c.1643A>G (p.Asp548Gly) n.420+52580A>G	dbSNP gnomAD v4
12	g.6057935T>G	CA383498192	VWF	c.1643A>C (p.Asp548Ala) n.420+52580A>C
12	g.6057935T=	CA2013892017	VWF	c.1643A= (p.Asp548=) n.420+52580A=
12	g.6057938_6057940dup	CA2617232672	VWF	c.1641_1643dup (p.Glu547_Asp548insGlu) n.420+52578_420+52580dup	gnomAD v4
12	g.6057936C>A	CA383498194	VWF	c.1642G>T (p.Asp548Tyr) n.420+52579G>T
12	g.6057936C>G	CA383498195	VWF	c.1642G>C (p.Asp548His) n.420+52579G>C
12	g.6057936C>T	CA383498196	VWF	c.1642G>A (p.Asp548Asn) n.420+52579G>A
12	g.6057937C>A	CA383498197	VWF	c.1641G>T (p.Glu547Asp) n.420+52578G>T
12	g.6057937C>G	CA383498198	VWF	c.1641G>C (p.Glu547Asp) n.420+52578G>C
12	g.6057937C>T	CA478104037	VWF	c.1641G>A (p.Glu547=) n.420+52578G>A
12	g.6057938T>A	CA383498199	VWF	c.1640A>T (p.Glu547Val) n.420+52577A>T
12	g.6057938T>C	CA383498200	VWF	c.1640A>G (p.Glu547Gly) n.420+52577A>G
12	g.6057938T>G	CA383498201	VWF	c.1640A>C (p.Glu547Ala) n.420+52577A>C	dbSNP
12	g.6057938T=	CA2013892019	VWF	c.1640A= (p.Glu547=) n.420+52577A=
12	g.6057939C>A	CA383498202	VWF	c.1639G>T (p.Glu547Ter) n.420+52576G>T
12	g.6057939C>G	CA383498203	VWF	c.1639G>C (p.Glu547Gln) n.420+52576G>C
12	g.6057939C>T	CA383498204	VWF	c.1639G>A (p.Glu547Lys) n.420+52576G>A
12	g.6057940C>A	CA478104038	VWF	c.1638G>T (p.Val546=) n.420+52575G>T
12	g.6057940C=	CA2013892021	VWF	c.1638G= (p.Val546=) n.420+52575G=
12	g.6057940C>G	CA478104039	VWF	c.1638G>C (p.Val546=) n.420+52575G>C
12	g.6057940C>T	CA232310615	VWF	c.1638G>A (p.Val546=) n.420+52575G>A	dbSNP gnomAD v3 gnomAD v4
12	g.6057941A=	CA2013892025	VWF	c.1637T= (p.Val546=) n.420+52574T=
12	g.6057941A>C	CA383498205	VWF	c.1637T>G (p.Val546Gly) n.420+52574T>G	gnomAD v4
12	g.6057941A>G	CA232310616	VWF	c.1637T>C (p.Val546Ala) n.420+52574T>C	dbSNP
12	g.6057941A>T	CA383498206	VWF	c.1637T>A (p.Val546Glu) n.420+52574T>A	gnomAD v4
12	g.6057942C>A	CA6403313	VWF	c.1636G>T (p.Val546Leu) n.420+52573G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057942C=	CA2013892028	VWF	c.1636G= (p.Val546=) n.420+52573G=
12	g.6057942C>G	CA383498207	VWF	c.1636G>C (p.Val546Leu) n.420+52573G>C
12	g.6057942C>T	CA383498208	VWF	c.1636G>A (p.Val546Met) n.420+52573G>A	dbSNP gnomAD v4
12	g.6057943C>A	CA478104041	VWF	c.1635G>T (p.Arg545=) n.420+52572G>T	dbSNP gnomAD v3 gnomAD v4
12	g.6057943C=	CA2013892034	VWF	c.1635G= (p.Arg545=) n.420+52572G=
12	g.6057943C>G	CA6403314	VWF	c.1635G>C (p.Arg545=) n.420+52572G>C	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057943C>T	CA478104040	VWF	c.1635G>A (p.Arg545=) n.420+52572G>A
12	g.6057944C>A	CA383498209	VWF	c.1634G>T (p.Arg545Leu) n.420+52571G>T
12	g.6057944C=	CA2013892036	VWF	c.1634G= (p.Arg545=) n.420+52571G=
12	g.6057944C>G	CA6403315	VWF	c.1634G>C (p.Arg545Pro) n.420+52571G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057944C>T	CA383498210	VWF	c.1634G>A (p.Arg545Gln) n.420+52571G>A
12	g.6057945G>A	CA383498212	VWF	c.1633C>T (p.Arg545Trp) n.420+52570C>T	gnomAD v4
12	g.6057945G>C	CA383498211	VWF	c.1633C>G (p.Arg545Gly) n.420+52570C>G	dbSNP gnomAD v2 gnomAD v4
12	g.6057945G=	CA2013892040	VWF	c.1633C= (p.Arg545=) n.420+52570C=
12	g.6057945G>T	CA478104042	VWF	c.1633C>A (p.Arg545=) n.420+52570C>A
12	g.6057948del	CA2617232673	VWF	c.1633del (p.Arg545GlyfsTer?) n.420+52570del	gnomAD v4
12	g.6057946G>A	CA478104043	VWF	c.1632C>T (p.Pro544=) n.420+52569C>T
12	g.6057946G>C	CA478104044	VWF	c.1632C>G (p.Pro544=) n.420+52569C>G
12	g.6057946G>T	CA478104045	VWF	c.1632C>A (p.Pro544=) n.420+52569C>A
12	g.6057947G>A	CA6403316	VWF	c.1631C>T (p.Pro544Leu) n.420+52568C>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057947G>C	CA383498213	VWF	c.1631C>G (p.Pro544Arg) n.420+52568C>G
12	g.6057947G=	CA2013892043	VWF	c.1631C= (p.Pro544=) n.420+52568C=
12	g.6057947G>T	CA383498214	VWF	c.1631C>A (p.Pro544His) n.420+52568C>A
12	g.6057948G>A	CA383498215	VWF	c.1630C>T (p.Pro544Ser) n.420+52567C>T	dbSNP gnomAD v2 gnomAD v4
12	g.6057948G>C	CA383498216	VWF	c.1630C>G (p.Pro544Ala) n.420+52567C>G
12	g.6057948G=	CA2013892046	VWF	c.1630C= (p.Pro544=) n.420+52567C=
12	g.6057948G>T	CA383498217	VWF	c.1630C>A (p.Pro544Thr) n.420+52567C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.6057949C>A	CA383498218	VWF	c.1629G>T (p.Glu543Asp) n.420+52566G>T	gnomAD v4
12	g.6057949C=	CA2013892052	VWF	c.1629G= (p.Glu543=) n.420+52566G=
12	g.6057949C>G	CA383498219	VWF	c.1629G>C (p.Glu543Asp) n.420+52566G>C
12	g.6057949C>T	CA6403317	VWF	c.1629G>A (p.Glu543=) n.420+52566G>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6057950T>A	CA383498220	VWF	c.1628A>T (p.Glu543Val) n.420+52565A>T
12	g.6057950T>C	CA383498221	VWF	c.1628A>G (p.Glu543Gly) n.420+52565A>G
12	g.6057950T>G	CA383498222	VWF	c.1628A>C (p.Glu543Ala) n.420+52565A>C
12	g.6057951C>A	CA383498223	VWF	c.1627G>T (p.Glu543Ter) n.420+52564G>T
12	g.6057951C>G	CA383498224	VWF	c.1627G>C (p.Glu543Gln) n.420+52564G>C
12	g.6057951C>T	CA383498225	VWF	c.1627G>A (p.Glu543Lys) n.420+52564G>A
12	g.6057952C>A	CA478104046	VWF	c.1626G>T (p.Ala542=) n.420+52563G>T
12	g.6057952C=	CA2013892058	VWF	c.1626G= (p.Ala542=) n.420+52563G=
12	g.6057952C>G	CA232310631	VWF	c.1626G>C (p.Ala542=) n.420+52563G>C	dbSNP
12	g.6057952C>T	CA6403318	VWF	c.1626G>A (p.Ala542=) n.420+52563G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057953G>A	CA232310640	VWF	c.1625C>T (p.Ala542Val) n.420+52562C>T	dbSNP gnomAD v4
12	g.6057953G>C	CA6403319	VWF	c.1625C>G (p.Ala542Gly) n.420+52562C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6057953G=	CA2013892066	VWF	c.1625C= (p.Ala542=) n.420+52562C=
12	g.6057953G>T	CA383498226	VWF	c.1625C>A (p.Ala542Glu) n.420+52562C>A	gnomAD v4 COSMIC

Number of alleles fetched