Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6036395dup	CA228350	VWF	c.2540dup (p.Asn847LysfsTer18) n.421-42460dup	ClinVar dbSNP
12	g.6036395T>A	CA383520286	VWF	c.2539A>T (p.Asn847Tyr) n.421-42461A>T
12	g.6036395T>C	CA383520287	VWF	c.2539A>G (p.Asn847Asp) n.421-42461A>G
12	g.6036395T>G	CA383520288	VWF	c.2539A>C (p.Asn847His) n.421-42461A>C
12	g.6036396G>A	CA478103083	VWF	c.2538C>T (p.Cys846=) n.421-42462C>T
12	g.6036396G>C	CA383520289	VWF	c.2538C>G (p.Cys846Trp) n.421-42462C>G
12	g.6036396G>T	CA383520290	VWF	c.2538C>A (p.Cys846Ter) n.421-42462C>A
12	g.6036397C>A	CA383520291	VWF	c.2537G>T (p.Cys846Phe) n.421-42463G>T	gnomAD v4
12	g.6036397C>G	CA383520292	VWF	c.2537G>C (p.Cys846Ser) n.421-42463G>C
12	g.6036397C>T	CA383520293	VWF	c.2537G>A (p.Cys846Tyr) n.421-42463G>A
12	g.6036398A=	CA2013880912	VWF	c.2536T= (p.Cys846=) n.421-42464T=
12	g.6036398A>C	CA6403045	VWF	c.2536T>G (p.Cys846Gly) n.421-42464T>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6036398A>G	CA383520295	VWF	c.2536T>C (p.Cys846Arg) n.421-42464T>C	gnomAD v4
12	g.6036398A>T	CA383520294	VWF	c.2536T>A (p.Cys846Ser) n.421-42464T>A	gnomAD v4
12	g.6036399G>A	CA232299460	VWF	c.2535C>T (p.Gly845=) n.421-42465C>T	dbSNP gnomAD v4
12	g.6036399G>C	CA478103088	VWF	c.2535C>G (p.Gly845=) n.421-42465C>G
12	g.6036399G=	CA2013880913	VWF	c.2535C= (p.Gly845=) n.421-42465C=
12	g.6036399G>T	CA478103089	VWF	c.2535C>A (p.Gly845=) n.421-42465C>A
12	g.6036400C>A	CA383520298	VWF	c.2534G>T (p.Gly845Val) n.421-42466G>T
12	g.6036400C=	CA2013880914	VWF	c.2534G= (p.Gly845=) n.421-42466G=
12	g.6036400C>G	CA383520296	VWF	c.2534G>C (p.Gly845Ala) n.421-42466G>C
12	g.6036400C>T	CA383520297	VWF	c.2534G>A (p.Gly845Asp) n.421-42466G>A	dbSNP gnomAD v2
12	g.6036401C>A	CA383520299	VWF	c.2533G>T (p.Gly845Cys) n.421-42467G>T
12	g.6036401C>G	CA383520300	VWF	c.2533G>C (p.Gly845Arg) n.421-42467G>C
12	g.6036401C>T	CA383520301	VWF	c.2533G>A (p.Gly845Ser) n.421-42467G>A
12	g.6036402A>C	CA383520302	VWF	c.2532T>G (p.Ile844Met) n.421-42468T>G
12	g.6036402A>G	CA478103091	VWF	c.2532T>C (p.Ile844=) n.421-42468T>C
12	g.6036402A>T	CA478103095	VWF	c.2532T>A (p.Ile844=) n.421-42468T>A	dbSNP
12	g.6036403A>C	CA383520305	VWF	c.2531T>G (p.Ile844Ser) n.421-42469T>G
12	g.6036403A>G	CA383520303	VWF	c.2531T>C (p.Ile844Thr) n.421-42469T>C
12	g.6036403A>T	CA383520304	VWF	c.2531T>A (p.Ile844Asn) n.421-42469T>A
12	g.6036404T>A	CA383520306	VWF	c.2530A>T (p.Ile844Phe) n.421-42470A>T	dbSNP gnomAD v2 gnomAD v4
12	g.6036404T>C	CA383520307	VWF	c.2530A>G (p.Ile844Val) n.421-42470A>G
12	g.6036404T>G	CA383520308	VWF	c.2530A>C (p.Ile844Leu) n.421-42470A>C
12	g.6036404T=	CA2013880915	VWF	c.2530A= (p.Ile844=) n.421-42470A=
12	g.6036405C>A	CA383520309	VWF	c.2529G>T (p.Lys843Asn) n.421-42471G>T	dbSNP gnomAD v2 gnomAD v4
12	g.6036405C=	CA2013880916	VWF	c.2529G= (p.Lys843=) n.421-42471G=
12	g.6036405C>G	CA383520310	VWF	c.2529G>C (p.Lys843Asn) n.421-42471G>C
12	g.6036405C>T	CA478103097	VWF	c.2529G>A (p.Lys843=) n.421-42471G>A
12	g.6036406T>A	CA383520311	VWF	c.2528A>T (p.Lys843Met) n.421-42472A>T
12	g.6036406T>C	CA383520312	VWF	c.2528A>G (p.Lys843Arg) n.421-42472A>G	dbSNP gnomAD v2 gnomAD v4
12	g.6036406T>G	CA232299461	VWF	c.2528A>C (p.Lys843Thr) n.421-42472A>C	dbSNP gnomAD v4
12	g.6036406T=	CA2013880917	VWF	c.2528A= (p.Lys843=) n.421-42472A=
12	g.6036407T>A	CA383520313	VWF	c.2527A>T (p.Lys843Ter) n.421-42473A>T
12	g.6036407T>C	CA383520314	VWF	c.2527A>G (p.Lys843Glu) n.421-42473A>G
12	g.6036407T>G	CA383520315	VWF	c.2527A>C (p.Lys843Gln) n.421-42473A>C
12	g.6036408C>A	CA478103101	VWF	c.2526G>T (p.Val842=) n.421-42474G>T
12	g.6036408C>G	CA478103102	VWF	c.2526G>C (p.Val842=) n.421-42474G>C
12	g.6036408C>T	CA478103103	VWF	c.2526G>A (p.Val842=) n.421-42474G>A
12	g.6036409A=	CA2013880918	VWF	c.2525T= (p.Val842=) n.421-42475T=

Number of alleles fetched