Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6018598A=CA2013872590VWFc.4820T= (p.Val1607=)
n.421-24664T=
12g.6018598A>CCA383499060VWFc.4820T>G (p.Val1607Gly)
n.421-24664T>G
12g.6018598A>GCA383499063VWFc.4820T>C (p.Val1607Ala)
n.421-24664T>C
12g.6018598A>TCA114119VWFc.4820T>A (p.Val1607Asp)
n.421-24664T>A
ClinVar dbSNP
12g.6018599C>ACA383499070VWFc.4819G>T (p.Val1607Phe)
n.421-24665G>T
12g.6018599C>GCA383499079VWFc.4819G>C (p.Val1607Leu)
n.421-24665G>C
12g.6018599C>TCA383499077VWFc.4819G>A (p.Val1607Ile)
n.421-24665G>A
12g.6018600C>ACA383499083VWFc.4818G>T (p.Met1606Ile)
n.421-24666G>T
12g.6018600C>GCA383499085VWFc.4818G>C (p.Met1606Ile)
n.421-24666G>C
12g.6018600C>TCA383499086VWFc.4818G>A (p.Met1606Ile)
n.421-24666G>A
12g.6018601A>CCA383499090VWFc.4817T>G (p.Met1606Arg)
n.421-24667T>G
12g.6018601A>GCA383499094VWFc.4817T>C (p.Met1606Thr)
n.421-24667T>C
gnomAD v4
12g.6018601A>TCA383499097VWFc.4817T>A (p.Met1606Lys)
n.421-24667T>A
12g.6018602T>ACA383499099VWFc.4816A>T (p.Met1606Leu)
n.421-24668A>T
12g.6018602T>CCA6402454VWFc.4816A>G (p.Met1606Val)
n.421-24668A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018602T>GCA383499104VWFc.4816A>C (p.Met1606Leu)
n.421-24668A>C
12g.6018602T=CA2013872591VWFc.4816A= (p.Met1606=)
n.421-24668A=
12g.6018603G>ACA478501945VWFc.4815C>T (p.Tyr1605=)
n.421-24669C>T
12g.6018603G>CCA383499108VWFc.4815C>G (p.Tyr1605Ter)
n.421-24669C>G
12g.6018603G>TCA383499115VWFc.4815C>A (p.Tyr1605Ter)
n.421-24669C>A
12g.6018604T>ACA383499127VWFc.4814A>T (p.Tyr1605Phe)
n.421-24670A>T
12g.6018604T>CCA383499123VWFc.4814A>G (p.Tyr1605Cys)
n.421-24670A>G
gnomAD v4
12g.6018604T>GCA383499120VWFc.4814A>C (p.Tyr1605Ser)
n.421-24670A>C
12g.6018605A>CCA383499133VWFc.4813T>G (p.Tyr1605Asp)
n.421-24671T>G
12g.6018605A>GCA383499137VWFc.4813T>C (p.Tyr1605His)
n.421-24671T>C
12g.6018605A>TCA383499135VWFc.4813T>A (p.Tyr1605Asn)
n.421-24671T>A
12g.6018606G>ACA478501952VWFc.4812C>T (p.Val1604=)
n.421-24672C>T
12g.6018606G>CCA478501953VWFc.4812C>G (p.Val1604=)
n.421-24672C>G
12g.6018606G>TCA478501954VWFc.4812C>A (p.Val1604=)
n.421-24672C>A
12g.6018607A>CCA383499140VWFc.4811T>G (p.Val1604Gly)
n.421-24673T>G
gnomAD v4
12g.6018607A>GCA383499141VWFc.4811T>C (p.Val1604Ala)
n.421-24673T>C
12g.6018607A>TCA383499144VWFc.4811T>A (p.Val1604Asp)
n.421-24673T>A
12g.6018608C>ACA228663VWFc.4810G>T (p.Val1604Phe)
n.421-24674G>T
ClinVar dbSNP
12g.6018608C=CA2013872592VWFc.4810G= (p.Val1604=)
n.421-24674G=
12g.6018608C>GCA383499150VWFc.4810G>C (p.Val1604Leu)
n.421-24674G>C
12g.6018608C>TCA383499153VWFc.4810G>A (p.Val1604Ile)
n.421-24674G>A
12g.6018609C>ACA478501966VWFc.4809G>T (p.Leu1603=)
n.421-24675G>T
12g.6018609C=CA2013872594VWFc.4809G= (p.Leu1603=)
n.421-24675G=
12g.6018609C>GCA478501962VWFc.4809G>C (p.Leu1603=)
n.421-24675G>C
dbSNP gnomAD v4
12g.6018609C>TCA478501964VWFc.4809G>A (p.Leu1603=)
n.421-24675G>A
12g.6018609_6018610delinsCACA2013872593VWFc.4808_4809delinsTG (p.Leu1603=)
n.421-24676_421-24675delinsTG
12g.6018610delCA690500583VWFc.4808del (p.Leu1603ArgfsTer?)
n.421-24676del
dbSNP gnomAD v3 gnomAD v4
12g.6018610A=CA2013872595VWFc.4808T= (p.Leu1603=)
n.421-24676T=
12g.6018610A>CCA383499156VWFc.4808T>G (p.Leu1603Arg)
n.421-24676T>G
12g.6018610A>GCA228661VWFc.4808T>C (p.Leu1603Pro)
n.421-24676T>C
ClinVar dbSNP
12g.6018610A>TCA383499161VWFc.4808T>A (p.Leu1603Gln)
n.421-24676T>A
12g.6018611G>ACA478501971VWFc.4807C>T (p.Leu1603=)
n.421-24677C>T
12g.6018611G>CCA383499164VWFc.4807C>G (p.Leu1603Val)
n.421-24677C>G
12g.6018611G>TCA383499166VWFc.4807C>A (p.Leu1603Met)
n.421-24677C>A
12g.6018612G>ACA478501973VWFc.4806C>T (p.Asn1602=)
n.421-24678C>T
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched