Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6023635C>A	CA6402767	VWF	c.3375G>T (p.Leu1125Phe) n.421-29701G>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6023635C=	CA2013874858	VWF	c.3375G= (p.Leu1125=) n.421-29701G=
12	g.6023635C>G	CA383511795	VWF	c.3375G>C (p.Leu1125Phe) n.421-29701G>C
12	g.6023635C>T	CA6402768	VWF	c.3375G>A (p.Leu1125=) n.421-29701G>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6023636A=	CA2013874859	VWF	c.3374T= (p.Leu1125=) n.421-29702T=
12	g.6023636A>C	CA383511798	VWF	c.3374T>G (p.Leu1125Trp) n.421-29702T>G	dbSNP gnomAD v2 gnomAD v4
12	g.6023636A>G	CA383511801	VWF	c.3374T>C (p.Leu1125Ser) n.421-29702T>C	dbSNP gnomAD v3 gnomAD v4
12	g.6023636A>T	CA383511804	VWF	c.3374T>A (p.Leu1125Ter) n.421-29702T>A
12	g.6023637A>C	CA383511809	VWF	c.3373T>G (p.Leu1125Val) n.421-29703T>G
12	g.6023637A>G	CA478101492	VWF	c.3373T>C (p.Leu1125=) n.421-29703T>C	gnomAD v4
12	g.6023637A>T	CA383511806	VWF	c.3373T>A (p.Leu1125Met) n.421-29703T>A
12	g.6023638T>A	CA478101493	VWF	c.3372A>T (p.Thr1124=) n.421-29704A>T
12	g.6023638T>C	CA478101494	VWF	c.3372A>G (p.Thr1124=) n.421-29704A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6023638T>G	CA478101495	VWF	c.3372A>C (p.Thr1124=) n.421-29704A>C
12	g.6023638T=	CA2013874860	VWF	c.3372A= (p.Thr1124=) n.421-29704A=
12	g.6023639G>A	CA383511813	VWF	c.3371C>T (p.Thr1124Ile) n.421-29705C>T	gnomAD v4
12	g.6023639G>C	CA383511815	VWF	c.3371C>G (p.Thr1124Arg) n.421-29705C>G
12	g.6023639G>T	CA383511816	VWF	c.3371C>A (p.Thr1124Lys) n.421-29705C>A
12	g.6023640T>A	CA383511820	VWF	c.3370A>T (p.Thr1124Ser) n.421-29706A>T	gnomAD v4
12	g.6023640T>C	CA6402769	VWF	c.3370A>G (p.Thr1124Ala) n.421-29706A>G	dbSNP ExAC gnomAD v2
12	g.6023640T>G	CA383511825	VWF	c.3370A>C (p.Thr1124Pro) n.421-29706A>C
12	g.6023640T=	CA2013874861	VWF	c.3370A= (p.Thr1124=) n.421-29706A=
12	g.6023641G>A	CA478101497	VWF	c.3369C>T (p.Ala1123=) n.421-29707C>T
12	g.6023641G>C	CA478101498	VWF	c.3369C>G (p.Ala1123=) n.421-29707C>G
12	g.6023641G>T	CA478101499	VWF	c.3369C>A (p.Ala1123=) n.421-29707C>A
12	g.6023642G>A	CA383511836	VWF	c.3368C>T (p.Ala1123Val) n.421-29708C>T	gnomAD v4
12	g.6023642G>C	CA383511829	VWF	c.3368C>G (p.Ala1123Gly) n.421-29708C>G
12	g.6023642G>T	CA383511832	VWF	c.3368C>A (p.Ala1123Asp) n.421-29708C>A
12	g.6023643C>A	CA383511839	VWF	c.3367G>T (p.Ala1123Ser) n.421-29709G>T
12	g.6023643C=	CA2013874862	VWF	c.3367G= (p.Ala1123=) n.421-29709G=
12	g.6023643C>G	CA383511848	VWF	c.3367G>C (p.Ala1123Pro) n.421-29709G>C
12	g.6023643C>T	CA232298109	VWF	c.3367G>A (p.Ala1123Thr) n.421-29709G>A	dbSNP
12	g.6023644C>A	CA478101503	VWF	c.3366G>T (p.Thr1122=) n.421-29710G>T
12	g.6023644C=	CA2013874863	VWF	c.3366G= (p.Thr1122=) n.421-29710G=
12	g.6023644C>G	CA478101504	VWF	c.3366G>C (p.Thr1122=) n.421-29710G>C
12	g.6023644C>T	CA232298110	VWF	c.3366G>A (p.Thr1122=) n.421-29710G>A	dbSNP gnomAD v3 gnomAD v4
12	g.6023645G>A	CA6402770	VWF	c.3365C>T (p.Thr1122Met) n.421-29711C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6023645G>C	CA383511858	VWF	c.3365C>G (p.Thr1122Arg) n.421-29711C>G
12	g.6023645G=	CA2013874864	VWF	c.3365C= (p.Thr1122=) n.421-29711C=
12	g.6023645G>T	CA383511859	VWF	c.3365C>A (p.Thr1122Lys) n.421-29711C>A
12	g.6023646T>A	CA383511864	VWF	c.3364A>T (p.Thr1122Ser) n.421-29712A>T
12	g.6023646T>C	CA383511868	VWF	c.3364A>G (p.Thr1122Ala) n.421-29712A>G
12	g.6023646T>G	CA383511871	VWF	c.3364A>C (p.Thr1122Pro) n.421-29712A>C
12	g.6023647C>A	CA383511875	VWF	c.3363G>T (p.Arg1121Ser) n.421-29713G>T
12	g.6023647C>G	CA383511877	VWF	c.3363G>C (p.Arg1121Ser) n.421-29713G>C
12	g.6023647C>T	CA478101510	VWF	c.3363G>A (p.Arg1121=) n.421-29713G>A
12	g.6023648dup	CA2575053935	VWF	c.3363dup (p.Thr1122AspfsTer20) n.421-29713dup
12	g.6023648C>A	CA383511879	VWF	c.3362G>T (p.Arg1121Met) n.421-29714G>T
12	g.6023648C>G	CA383511884	VWF	c.3362G>C (p.Arg1121Thr) n.421-29714G>C
12	g.6023648C>T	CA383511881	VWF	c.3362G>A (p.Arg1121Lys) n.421-29714G>A

Number of alleles fetched