Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6018593del	CA2617230156	VWF	c.4826del (p.Gly1609GlufsTer?) n.421-24658del	gnomAD v4
12	g.6018593C>A	CA383499040	VWF	c.4825G>T (p.Gly1609Ter) n.421-24659G>T
12	g.6018593C=	CA2013872588	VWF	c.4825G= (p.Gly1609=) n.421-24659G=
12	g.6018593C>G	CA383499042	VWF	c.4825G>C (p.Gly1609Arg) n.421-24659G>C
12	g.6018593C>T	CA228665	VWF	c.4825G>A (p.Gly1609Arg) n.421-24659G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.6018594G>A	CA6402453	VWF	c.4824C>T (p.Thr1608=) n.421-24660C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018594G>C	CA6402452	VWF	c.4824C>G (p.Thr1608=) n.421-24660C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018594G=	CA2013872589	VWF	c.4824C= (p.Thr1608=) n.421-24660C=
12	g.6018594G>T	CA478501917	VWF	c.4824C>A (p.Thr1608=) n.421-24660C>A
12	g.6018595G>A	CA383499052	VWF	c.4823C>T (p.Thr1608Ile) n.421-24661C>T
12	g.6018595G>C	CA383499051	VWF	c.4823C>G (p.Thr1608Ser) n.421-24661C>G
12	g.6018595G>T	CA383499050	VWF	c.4823C>A (p.Thr1608Asn) n.421-24661C>A
12	g.6018596T>A	CA383499053	VWF	c.4822A>T (p.Thr1608Ser) n.421-24662A>T
12	g.6018596T>C	CA383499055	VWF	c.4822A>G (p.Thr1608Ala) n.421-24662A>G	COSMIC
12	g.6018596T>G	CA383499057	VWF	c.4822A>C (p.Thr1608Pro) n.421-24662A>C
12	g.6018597G>A	CA478501928	VWF	c.4821C>T (p.Val1607=) n.421-24663C>T
12	g.6018597G>C	CA478501926	VWF	c.4821C>G (p.Val1607=) n.421-24663C>G	gnomAD v4
12	g.6018597G>T	CA478501925	VWF	c.4821C>A (p.Val1607=) n.421-24663C>A
12	g.6018598A=	CA2013872590	VWF	c.4820T= (p.Val1607=) n.421-24664T=
12	g.6018598A>C	CA383499060	VWF	c.4820T>G (p.Val1607Gly) n.421-24664T>G
12	g.6018598A>G	CA383499063	VWF	c.4820T>C (p.Val1607Ala) n.421-24664T>C
12	g.6018598A>T	CA114119	VWF	c.4820T>A (p.Val1607Asp) n.421-24664T>A	ClinVar dbSNP
12	g.6018599C>A	CA383499070	VWF	c.4819G>T (p.Val1607Phe) n.421-24665G>T
12	g.6018599C>G	CA383499079	VWF	c.4819G>C (p.Val1607Leu) n.421-24665G>C
12	g.6018599C>T	CA383499077	VWF	c.4819G>A (p.Val1607Ile) n.421-24665G>A
12	g.6018600C>A	CA383499083	VWF	c.4818G>T (p.Met1606Ile) n.421-24666G>T
12	g.6018600C>G	CA383499085	VWF	c.4818G>C (p.Met1606Ile) n.421-24666G>C
12	g.6018600C>T	CA383499086	VWF	c.4818G>A (p.Met1606Ile) n.421-24666G>A
12	g.6018601A>C	CA383499090	VWF	c.4817T>G (p.Met1606Arg) n.421-24667T>G
12	g.6018601A>G	CA383499094	VWF	c.4817T>C (p.Met1606Thr) n.421-24667T>C	gnomAD v4
12	g.6018601A>T	CA383499097	VWF	c.4817T>A (p.Met1606Lys) n.421-24667T>A
12	g.6018602T>A	CA383499099	VWF	c.4816A>T (p.Met1606Leu) n.421-24668A>T
12	g.6018602T>C	CA6402454	VWF	c.4816A>G (p.Met1606Val) n.421-24668A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6018602T>G	CA383499104	VWF	c.4816A>C (p.Met1606Leu) n.421-24668A>C
12	g.6018602T=	CA2013872591	VWF	c.4816A= (p.Met1606=) n.421-24668A=
12	g.6018603G>A	CA478501945	VWF	c.4815C>T (p.Tyr1605=) n.421-24669C>T
12	g.6018603G>C	CA383499108	VWF	c.4815C>G (p.Tyr1605Ter) n.421-24669C>G
12	g.6018603G>T	CA383499115	VWF	c.4815C>A (p.Tyr1605Ter) n.421-24669C>A
12	g.6018604T>A	CA383499127	VWF	c.4814A>T (p.Tyr1605Phe) n.421-24670A>T
12	g.6018604T>C	CA383499123	VWF	c.4814A>G (p.Tyr1605Cys) n.421-24670A>G	gnomAD v4
12	g.6018604T>G	CA383499120	VWF	c.4814A>C (p.Tyr1605Ser) n.421-24670A>C
12	g.6018605A>C	CA383499133	VWF	c.4813T>G (p.Tyr1605Asp) n.421-24671T>G
12	g.6018605A>G	CA383499137	VWF	c.4813T>C (p.Tyr1605His) n.421-24671T>C
12	g.6018605A>T	CA383499135	VWF	c.4813T>A (p.Tyr1605Asn) n.421-24671T>A
12	g.6018606G>A	CA478501952	VWF	c.4812C>T (p.Val1604=) n.421-24672C>T
12	g.6018606G>C	CA478501953	VWF	c.4812C>G (p.Val1604=) n.421-24672C>G
12	g.6018606G>T	CA478501954	VWF	c.4812C>A (p.Val1604=) n.421-24672C>A
12	g.6018607A>C	CA383499140	VWF	c.4811T>G (p.Val1604Gly) n.421-24673T>G	gnomAD v4
12	g.6018607A>G	CA383499141	VWF	c.4811T>C (p.Val1604Ala) n.421-24673T>C
12	g.6018607A>T	CA383499144	VWF	c.4811T>A (p.Val1604Asp) n.421-24673T>A

Number of alleles fetched