Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6057921A>CCA383498162VWFc.1657T>G (p.Trp553Gly)
n.420+52594T>G
12g.6057921A>GCA383498161VWFc.1657T>C (p.Trp553Arg)
n.420+52594T>C
gnomAD v4
12g.6057921A>TCA383498160VWFc.1657T>A (p.Trp553Arg)
n.420+52594T>A
12g.6057921dupCA228279VWFc.1657dup (p.Trp553LeufsTer?)
n.420+52594dup
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057922G>ACA478104030VWFc.1656C>T (p.Ala552=)
n.420+52593C>T
gnomAD v4
12g.6057922G>CCA478104028VWFc.1656C>G (p.Ala552=)
n.420+52593C>G
12g.6057922G>TCA478104029VWFc.1656C>A (p.Ala552=)
n.420+52593C>A
12g.6057923G>ACA383498163VWFc.1655C>T (p.Ala552Val)
n.420+52592C>T
dbSNP gnomAD v2 gnomAD v4
12g.6057923G>CCA383498164VWFc.1655C>G (p.Ala552Gly)
n.420+52592C>G
12g.6057923G=CA2013891989VWFc.1655C= (p.Ala552=)
n.420+52592C=
12g.6057923G>TCA383498165VWFc.1655C>A (p.Ala552Asp)
n.420+52592C>A
12g.6057924C>ACA383498166VWFc.1654G>T (p.Ala552Ser)
n.420+52591G>T
dbSNP gnomAD v2 gnomAD v4
12g.6057924C=CA2013891992VWFc.1654G= (p.Ala552=)
n.420+52591G=
12g.6057924C>GCA383498167VWFc.1654G>C (p.Ala552Pro)
n.420+52591G>C
12g.6057924C>TCA6403312VWFc.1654G>A (p.Ala552Thr)
n.420+52591G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6057925G>ACA478104032VWFc.1653C>T (p.Asn551=)
n.420+52590C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057925G>CCA383498168VWFc.1653C>G (p.Asn551Lys)
n.420+52590C>G
gnomAD v4
12g.6057925G=CA2013891996VWFc.1653C= (p.Asn551=)
n.420+52590C=
12g.6057925G>TCA383498169VWFc.1653C>A (p.Asn551Lys)
n.420+52590C>A
dbSNP gnomAD v2 gnomAD v4
12g.6057926T>ACA383498170VWFc.1652A>T (p.Asn551Ile)
n.420+52589A>T
12g.6057926T>CCA383498171VWFc.1652A>G (p.Asn551Ser)
n.420+52589A>G
12g.6057926T>GCA383498172VWFc.1652A>C (p.Asn551Thr)
n.420+52589A>C
12g.6057927T>ACA383498173VWFc.1651A>T (p.Asn551Tyr)
n.420+52588A>T
12g.6057927T>CCA383498174VWFc.1651A>G (p.Asn551Asp)
n.420+52588A>G
gnomAD v4
12g.6057927T>GCA383498175VWFc.1651A>C (p.Asn551His)
n.420+52588A>C
12g.6057927T=CA2013891999VWFc.1651A= (p.Asn551=)
n.420+52588A=
12g.6057928C>ACA478104033VWFc.1650G>T (p.Gly550=)
n.420+52587G>T
dbSNP gnomAD v3 gnomAD v4
12g.6057928C=CA2013892003VWFc.1650G= (p.Gly550=)
n.420+52587G=
12g.6057928C>GCA478104034VWFc.1650G>C (p.Gly550=)
n.420+52587G>C
12g.6057928C>TCA478104035VWFc.1650G>A (p.Gly550=)
n.420+52587G>A
dbSNP gnomAD v2 gnomAD v4
12g.6057930dupCA232310611VWFc.1650dup (p.Asn551GlufsTer?)
n.420+52587dup
dbSNP
12g.6057929C>ACA383498178VWFc.1649G>T (p.Gly550Val)
n.420+52586G>T
12g.6057929C>GCA383498177VWFc.1649G>C (p.Gly550Ala)
n.420+52586G>C
12g.6057929C>TCA383498176VWFc.1649G>A (p.Gly550Glu)
n.420+52586G>A
gnomAD v4
12g.6057930C>ACA383498179VWFc.1648G>T (p.Gly550Trp)
n.420+52585G>T
gnomAD v4
12g.6057930C=CA2013892007VWFc.1648G= (p.Gly550=)
n.420+52585G=
12g.6057930C>GCA383498180VWFc.1648G>C (p.Gly550Arg)
n.420+52585G>C
dbSNP gnomAD v3 gnomAD v4
12g.6057930C>TCA114156VWFc.1648G>A (p.Gly550Arg)
n.420+52585G>A
ClinVar dbSNP gnomAD v4 COSMIC
12g.6057931delCA2575054075VWFc.1647del (p.Phe549LeufsTer28)
n.420+52584del
12g.6057931G>ACA232310614VWFc.1647C>T (p.Phe549=)
n.420+52584C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057931G>CCA383498181VWFc.1647C>G (p.Phe549Leu)
n.420+52584C>G
12g.6057931G=CA2013892014VWFc.1647C= (p.Phe549=)
n.420+52584C=
12g.6057931G>TCA383498182VWFc.1647C>A (p.Phe549Leu)
n.420+52584C>A
gnomAD v4
12g.6057932A>CCA383498183VWFc.1646T>G (p.Phe549Cys)
n.420+52583T>G
12g.6057932A>GCA383498184VWFc.1646T>C (p.Phe549Ser)
n.420+52583T>C
12g.6057932A>TCA383498185VWFc.1646T>A (p.Phe549Tyr)
n.420+52583T>A
12g.6057933A>CCA383498186VWFc.1645T>G (p.Phe549Val)
n.420+52582T>G
12g.6057933A>GCA383498187VWFc.1645T>C (p.Phe549Leu)
n.420+52582T>C
12g.6057933A>TCA383498188VWFc.1645T>A (p.Phe549Ile)
n.420+52582T>A
12g.6057934G>ACA478104036VWFc.1644C>T (p.Asp548=)
n.420+52581C>T
gnomAD v4
12g.6057934G>CCA383498189VWFc.1644C>G (p.Asp548Glu)
n.420+52581C>G
ClinVar gnomAD v4
12g.6057934G>TCA383498190VWFc.1644C>A (p.Asp548Glu)
n.420+52581C>A
12g.6057935T>ACA383498193VWFc.1643A>T (p.Asp548Val)
n.420+52580A>T
12g.6057935T>CCA383498191VWFc.1643A>G (p.Asp548Gly)
n.420+52580A>G
dbSNP gnomAD v4
12g.6057935T>GCA383498192VWFc.1643A>C (p.Asp548Ala)
n.420+52580A>C
12g.6057935T=CA2013892017VWFc.1643A= (p.Asp548=)
n.420+52580A=
12g.6057938_6057940dupCA2617232672VWFc.1641_1643dup (p.Glu547_Asp548insGlu)
n.420+52578_420+52580dup
gnomAD v4
12g.6057936C>ACA383498194VWFc.1642G>T (p.Asp548Tyr)
n.420+52579G>T
12g.6057936C>GCA383498195VWFc.1642G>C (p.Asp548His)
n.420+52579G>C
12g.6057936C>TCA383498196VWFc.1642G>A (p.Asp548Asn)
n.420+52579G>A
12g.6057937C>ACA383498197VWFc.1641G>T (p.Glu547Asp)
n.420+52578G>T
12g.6057937C>GCA383498198VWFc.1641G>C (p.Glu547Asp)
n.420+52578G>C
12g.6057937C>TCA478104037VWFc.1641G>A (p.Glu547=)
n.420+52578G>A
12g.6057938T>ACA383498199VWFc.1640A>T (p.Glu547Val)
n.420+52577A>T
12g.6057938T>CCA383498200VWFc.1640A>G (p.Glu547Gly)
n.420+52577A>G
12g.6057938T>GCA383498201VWFc.1640A>C (p.Glu547Ala)
n.420+52577A>C
dbSNP
12g.6057938T=CA2013892019VWFc.1640A= (p.Glu547=)
n.420+52577A=
12g.6057939C>ACA383498202VWFc.1639G>T (p.Glu547Ter)
n.420+52576G>T
12g.6057939C>GCA383498203VWFc.1639G>C (p.Glu547Gln)
n.420+52576G>C
12g.6057939C>TCA383498204VWFc.1639G>A (p.Glu547Lys)
n.420+52576G>A
12g.6057940C>ACA478104038VWFc.1638G>T (p.Val546=)
n.420+52575G>T
12g.6057940C=CA2013892021VWFc.1638G= (p.Val546=)
n.420+52575G=
12g.6057940C>GCA478104039VWFc.1638G>C (p.Val546=)
n.420+52575G>C
12g.6057940C>TCA232310615VWFc.1638G>A (p.Val546=)
n.420+52575G>A
dbSNP gnomAD v3 gnomAD v4
12g.6057941A=CA2013892025VWFc.1637T= (p.Val546=)
n.420+52574T=
12g.6057941A>CCA383498205VWFc.1637T>G (p.Val546Gly)
n.420+52574T>G
gnomAD v4
12g.6057941A>GCA232310616VWFc.1637T>C (p.Val546Ala)
n.420+52574T>C
dbSNP
12g.6057941A>TCA383498206VWFc.1637T>A (p.Val546Glu)
n.420+52574T>A
gnomAD v4
12g.6057942C>ACA6403313VWFc.1636G>T (p.Val546Leu)
n.420+52573G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057942C=CA2013892028VWFc.1636G= (p.Val546=)
n.420+52573G=
12g.6057942C>GCA383498207VWFc.1636G>C (p.Val546Leu)
n.420+52573G>C
12g.6057942C>TCA383498208VWFc.1636G>A (p.Val546Met)
n.420+52573G>A
dbSNP gnomAD v4
12g.6057943C>ACA478104041VWFc.1635G>T (p.Arg545=)
n.420+52572G>T
dbSNP gnomAD v3 gnomAD v4
12g.6057943C=CA2013892034VWFc.1635G= (p.Arg545=)
n.420+52572G=
12g.6057943C>GCA6403314VWFc.1635G>C (p.Arg545=)
n.420+52572G>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057943C>TCA478104040VWFc.1635G>A (p.Arg545=)
n.420+52572G>A
12g.6057944C>ACA383498209VWFc.1634G>T (p.Arg545Leu)
n.420+52571G>T
12g.6057944C=CA2013892036VWFc.1634G= (p.Arg545=)
n.420+52571G=
12g.6057944C>GCA6403315VWFc.1634G>C (p.Arg545Pro)
n.420+52571G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057944C>TCA383498210VWFc.1634G>A (p.Arg545Gln)
n.420+52571G>A
12g.6057945G>ACA383498212VWFc.1633C>T (p.Arg545Trp)
n.420+52570C>T
gnomAD v4
12g.6057945G>CCA383498211VWFc.1633C>G (p.Arg545Gly)
n.420+52570C>G
dbSNP gnomAD v2 gnomAD v4
12g.6057945G=CA2013892040VWFc.1633C= (p.Arg545=)
n.420+52570C=
12g.6057945G>TCA478104042VWFc.1633C>A (p.Arg545=)
n.420+52570C>A
12g.6057948delCA2617232673VWFc.1633del (p.Arg545GlyfsTer?)
n.420+52570del
gnomAD v4
12g.6057946G>ACA478104043VWFc.1632C>T (p.Pro544=)
n.420+52569C>T
12g.6057946G>CCA478104044VWFc.1632C>G (p.Pro544=)
n.420+52569C>G
12g.6057946G>TCA478104045VWFc.1632C>A (p.Pro544=)
n.420+52569C>A
12g.6057947G>ACA6403316VWFc.1631C>T (p.Pro544Leu)
n.420+52568C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057947G>CCA383498213VWFc.1631C>G (p.Pro544Arg)
n.420+52568C>G
12g.6057947G=CA2013892043VWFc.1631C= (p.Pro544=)
n.420+52568C=
12g.6057947G>TCA383498214VWFc.1631C>A (p.Pro544His)
n.420+52568C>A
12g.6057948G>ACA383498215VWFc.1630C>T (p.Pro544Ser)
n.420+52567C>T
dbSNP gnomAD v2 gnomAD v4
12g.6057948G>CCA383498216VWFc.1630C>G (p.Pro544Ala)
n.420+52567C>G
12g.6057948G=CA2013892046VWFc.1630C= (p.Pro544=)
n.420+52567C=
12g.6057948G>TCA383498217VWFc.1630C>A (p.Pro544Thr)
n.420+52567C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.6057949C>ACA383498218VWFc.1629G>T (p.Glu543Asp)
n.420+52566G>T
gnomAD v4
12g.6057949C=CA2013892052VWFc.1629G= (p.Glu543=)
n.420+52566G=
12g.6057949C>GCA383498219VWFc.1629G>C (p.Glu543Asp)
n.420+52566G>C
12g.6057949C>TCA6403317VWFc.1629G>A (p.Glu543=)
n.420+52566G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057950T>ACA383498220VWFc.1628A>T (p.Glu543Val)
n.420+52565A>T
12g.6057950T>CCA383498221VWFc.1628A>G (p.Glu543Gly)
n.420+52565A>G
12g.6057950T>GCA383498222VWFc.1628A>C (p.Glu543Ala)
n.420+52565A>C
12g.6057951C>ACA383498223VWFc.1627G>T (p.Glu543Ter)
n.420+52564G>T
12g.6057951C>GCA383498224VWFc.1627G>C (p.Glu543Gln)
n.420+52564G>C
12g.6057951C>TCA383498225VWFc.1627G>A (p.Glu543Lys)
n.420+52564G>A
12g.6057952C>ACA478104046VWFc.1626G>T (p.Ala542=)
n.420+52563G>T
12g.6057952C=CA2013892058VWFc.1626G= (p.Ala542=)
n.420+52563G=
12g.6057952C>GCA232310631VWFc.1626G>C (p.Ala542=)
n.420+52563G>C
dbSNP
12g.6057952C>TCA6403318VWFc.1626G>A (p.Ala542=)
n.420+52563G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057953G>ACA232310640VWFc.1625C>T (p.Ala542Val)
n.420+52562C>T
dbSNP gnomAD v4
12g.6057953G>CCA6403319VWFc.1625C>G (p.Ala542Gly)
n.420+52562C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057953G=CA2013892066VWFc.1625C= (p.Ala542=)
n.420+52562C=
12g.6057953G>TCA383498226VWFc.1625C>A (p.Ala542Glu)
n.420+52562C>A
gnomAD v4 COSMIC
12g.6057954C>ACA383498227VWFc.1624G>T (p.Ala542Ser)
n.420+52561G>T
12g.6057954C=CA2013892072VWFc.1624G= (p.Ala542=)
n.420+52561G=
12g.6057954C>GCA383498228VWFc.1624G>C (p.Ala542Pro)
n.420+52561G>C
dbSNP
12g.6057954C>TCA6403320VWFc.1624G>A (p.Ala542Thr)
n.420+52561G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057955C>ACA478104047VWFc.1623G>T (p.Leu541=)
n.420+52560G>T
12g.6057955C=CA2013892076VWFc.1623G= (p.Leu541=)
n.420+52560G=
12g.6057955C>GCA6403321VWFc.1623G>C (p.Leu541=)
n.420+52560G>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057955C>TCA478104048VWFc.1623G>A (p.Leu541=)
n.420+52560G>A
12g.6057956A>CCA383498229VWFc.1622T>G (p.Leu541Arg)
n.420+52559T>G
12g.6057956A>GCA383498230VWFc.1622T>C (p.Leu541Pro)
n.420+52559T>C
12g.6057956A>TCA383498231VWFc.1622T>A (p.Leu541Gln)
n.420+52559T>A
12g.6057957G>ACA478104050VWFc.1621C>T (p.Leu541=)
n.420+52558C>T
gnomAD v4
12g.6057957G>CCA383498232VWFc.1621C>G (p.Leu541Val)
n.420+52558C>G
12g.6057957G>TCA383498233VWFc.1621C>A (p.Leu541Met)
n.420+52558C>A
12g.6057958C>ACA478104051VWFc.1620G>T (p.Gly540=)
n.420+52557G>T
12g.6057958C>GCA478104052VWFc.1620G>C (p.Gly540=)
n.420+52557G>C
gnomAD v4
12g.6057958C>TCA478104053VWFc.1620G>A (p.Gly540=)
n.420+52557G>A
gnomAD v4
12g.6057959C>ACA383498234VWFc.1619G>T (p.Gly540Val)
n.420+52556G>T
12g.6057959C>GCA383498235VWFc.1619G>C (p.Gly540Ala)
n.420+52556G>C
12g.6057959C>TCA383498236VWFc.1619G>A (p.Gly540Glu)
n.420+52556G>A
12g.6057960C>ACA383498237VWFc.1618G>T (p.Gly540Trp)
n.420+52555G>T
12g.6057960C=CA2013892078VWFc.1618G= (p.Gly540=)
n.420+52555G=
12g.6057960C>GCA383498238VWFc.1618G>C (p.Gly540Arg)
n.420+52555G>C
12g.6057960C>TCA383498239VWFc.1618G>A (p.Gly540Arg)
n.420+52555G>A
dbSNP gnomAD v2 gnomAD v4
12g.6057961A=CA2013892100VWFc.1617T= (p.Ser539=)
n.420+52554T=
12g.6057961A>CCA478104054VWFc.1617T>G (p.Ser539=)
n.420+52554T>G
12g.6057961A>GCA6403322VWFc.1617T>C (p.Ser539=)
n.420+52554T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057961A>TCA478104055VWFc.1617T>A (p.Ser539=)
n.420+52554T>A
12g.6057962G>ACA6403323VWFc.1616C>T (p.Ser539Phe)
n.420+52553C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057962G>CCA383498241VWFc.1616C>G (p.Ser539Cys)
n.420+52553C>G
COSMIC
12g.6057962G=CA2013892105VWFc.1616C= (p.Ser539=)
n.420+52553C=
12g.6057962G>TCA383498240VWFc.1616C>A (p.Ser539Tyr)
n.420+52553C>A
12g.6057963A=CA2013892110VWFc.1615T= (p.Ser539=)
n.420+52552T=
12g.6057963A>CCA383498242VWFc.1615T>G (p.Ser539Ala)
n.420+52552T>G
12g.6057963A>GCA383498243VWFc.1615T>C (p.Ser539Pro)
n.420+52552T>C
12g.6057963A>TCA383498244VWFc.1615T>A (p.Ser539Thr)
n.420+52552T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057963_6057964delinsAGCA2013892108VWFc.1614_1615delinsCT (p.Pro538=)
n.420+52551_420+52552delinsCT
12g.6057964G>ACA6403325VWFc.1614C>T (p.Pro538=)
n.420+52551C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057964G>CCA478104057VWFc.1614C>G (p.Pro538=)
n.420+52551C>G
12g.6057964G=CA2013892117VWFc.1614C= (p.Pro538=)
n.420+52551C=
12g.6057964G>TCA478104056VWFc.1614C>A (p.Pro538=)
n.420+52551C>A
12g.6057968delCA6403324VWFc.1614del (p.Ser539LeufsTer?)
n.420+52551del
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057965G>ACA6403326VWFc.1613C>T (p.Pro538Leu)
n.420+52550C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057965G>CCA6403327VWFc.1613C>G (p.Pro538Arg)
n.420+52550C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057965G=CA2013892123VWFc.1613C= (p.Pro538=)
n.420+52550C=
12g.6057965G>TCA6403328VWFc.1613C>A (p.Pro538His)
n.420+52550C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057966G>ACA6403329VWFc.1612C>T (p.Pro538Ser)
n.420+52549C>T
dbSNP ExAC gnomAD v2
12g.6057966G>CCA383498245VWFc.1612C>G (p.Pro538Ala)
n.420+52549C>G
12g.6057966G=CA2013892130VWFc.1612C= (p.Pro538=)
n.420+52549C=
12g.6057966G>TCA383498246VWFc.1612C>A (p.Pro538Thr)
n.420+52549C>A
12g.6057967G>ACA6403330VWFc.1611C>T (p.Thr537=)
n.420+52548C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057967G>CCA478104059VWFc.1611C>G (p.Thr537=)
n.420+52548C>G
12g.6057967G=CA2013892131VWFc.1611C= (p.Thr537=)
n.420+52548C=
12g.6057967G>TCA232310681VWFc.1611C>A (p.Thr537=)
n.420+52548C>A
dbSNP gnomAD v4
12g.6057968G>ACA6403331VWFc.1610C>T (p.Thr537Ile)
n.420+52547C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057968G>CCA383498248VWFc.1610C>G (p.Thr537Ser)
n.420+52547C>G
12g.6057968G=CA2013892133VWFc.1610C= (p.Thr537=)
n.420+52547C=
12g.6057968G>TCA383498247VWFc.1610C>A (p.Thr537Asn)
n.420+52547C>A
gnomAD v4
12g.6057969T>ACA383498249VWFc.1609A>T (p.Thr537Ser)
n.420+52546A>T
12g.6057969T>CCA383498250VWFc.1609A>G (p.Thr537Ala)
n.420+52546A>G
12g.6057969T>GCA232310687VWFc.1609A>C (p.Thr537Pro)
n.420+52546A>C
dbSNP COSMIC
12g.6057969T=CA2013892135VWFc.1609A= (p.Thr537=)
n.420+52546A=
12g.6057970A=CA2013892139VWFc.1608T= (p.Leu536=)
n.420+52545T=
12g.6057970A>CCA478104060VWFc.1608T>G (p.Leu536=)
n.420+52545T>G
12g.6057970A>GCA478104061VWFc.1608T>C (p.Leu536=)
n.420+52545T>C
dbSNP gnomAD v3 gnomAD v4
12g.6057970A>TCA478104062VWFc.1608T>A (p.Leu536=)
n.420+52545T>A
12g.6057971A=CA2013892143VWFc.1607T= (p.Leu536=)
n.420+52544T=
12g.6057971A>CCA383498251VWFc.1607T>G (p.Leu536Arg)
n.420+52544T>G
12g.6057971A>GCA383498252VWFc.1607T>C (p.Leu536Pro)
n.420+52544T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.6057971A>TCA383498253VWFc.1607T>A (p.Leu536His)
n.420+52544T>A
12g.6057972G>ACA6403332VWFc.1606C>T (p.Leu536Phe)
n.420+52543C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057972G>CCA383498254VWFc.1606C>G (p.Leu536Val)
n.420+52543C>G
12g.6057972G=CA2013892149VWFc.1606C= (p.Leu536=)
n.420+52543C=
12g.6057972G>TCA383498255VWFc.1606C>A (p.Leu536Ile)
n.420+52543C>A
12g.6057972_6057973delCA2617232674VWFc.1605_1606del (p.Leu536TyrfsTer?)
n.420+52542_420+52543del
gnomAD v4
12g.6057973G>ACA478104063VWFc.1605C>T (p.Phe535=)
n.420+52542C>T
gnomAD v4
12g.6057973G>CCA383498256VWFc.1605C>G (p.Phe535Leu)
n.420+52542C>G
12g.6057973G>TCA383498257VWFc.1605C>A (p.Phe535Leu)
n.420+52542C>A
12g.6057974A>CCA383498258VWFc.1604T>G (p.Phe535Cys)
n.420+52541T>G
12g.6057974A>GCA383498259VWFc.1604T>C (p.Phe535Ser)
n.420+52541T>C
gnomAD v4 COSMIC
12g.6057974A>TCA383498260VWFc.1604T>A (p.Phe535Tyr)
n.420+52541T>A
12g.6057975A>CCA383498263VWFc.1603T>G (p.Phe535Val)
n.420+52540T>G
12g.6057975A>GCA383498261VWFc.1603T>C (p.Phe535Leu)
n.420+52540T>C
12g.6057975A>TCA383498262VWFc.1603T>A (p.Phe535Ile)
n.420+52540T>A
12g.6057976G>ACA478104064VWFc.1602C>T (p.Asp534=)
n.420+52539C>T
12g.6057976G>CCA383498264VWFc.1602C>G (p.Asp534Glu)
n.420+52539C>G
12g.6057976G>TCA383498265VWFc.1602C>A (p.Asp534Glu)
n.420+52539C>A
12g.6057977T>ACA383498266VWFc.1601A>T (p.Asp534Val)
n.420+52538A>T
12g.6057977T>CCA383498267VWFc.1601A>G (p.Asp534Gly)
n.420+52538A>G
12g.6057977T>GCA383498268VWFc.1601A>C (p.Asp534Ala)
n.420+52538A>C
12g.6057978C>ACA383498269VWFc.1600G>T (p.Asp534Tyr)
n.420+52537G>T
12g.6057978C=CA2013892152VWFc.1600G= (p.Asp534=)
n.420+52537G=
12g.6057978C>GCA383498270VWFc.1600G>C (p.Asp534His)
n.420+52537G>C
12g.6057978C>TCA383498271VWFc.1600G>A (p.Asp534Asn)
n.420+52537G>A
ClinVar dbSNP gnomAD v4 COSMIC
12g.6057979G>ACA478104065VWFc.1599C>T (p.Asp533=)
n.420+52536C>T
dbSNP gnomAD v4 COSMIC
12g.6057979G>CCA383498272VWFc.1599C>G (p.Asp533Glu)
n.420+52536C>G
dbSNP gnomAD v4
12g.6057979G=CA2013892156VWFc.1599C= (p.Asp533=)
n.420+52536C=
12g.6057979G>TCA383498273VWFc.1599C>A (p.Asp533Glu)
n.420+52536C>A
12g.6057980T>ACA383498275VWFc.1598A>T (p.Asp533Val)
n.420+52535A>T
12g.6057980T>CCA383498276VWFc.1598A>G (p.Asp533Gly)
n.420+52535A>G
gnomAD v4
12g.6057980T>GCA383498274VWFc.1598A>C (p.Asp533Ala)
n.420+52535A>C
12g.6057981C>ACA383498277VWFc.1597G>T (p.Asp533Tyr)
n.420+52534G>T
12g.6057981C>GCA383498278VWFc.1597G>C (p.Asp533His)
n.420+52534G>C
12g.6057981C>TCA383498279VWFc.1597G>A (p.Asp533Asn)
n.420+52534G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.6057982G>ACA6403333VWFc.1596C>T (p.Gly532=)
n.420+52533C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6057982G>CCA6403334VWFc.1596C>G (p.Gly532=)
n.420+52533C>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6057982G=CA2013892161VWFc.1596C= (p.Gly532=)
n.420+52533C=
12g.6057982G>TCA232310700VWFc.1596C>A (p.Gly532=)
n.420+52533C>A
dbSNP
12g.6057983C>ACA383498282VWFc.1595G>T (p.Gly532Val)
n.420+52532G>T
12g.6057983C=CA2013892166VWFc.1595G= (p.Gly532=)
n.420+52532G=
12g.6057983C>GCA383498280VWFc.1595G>C (p.Gly532Ala)
n.420+52532G>C
12g.6057983C>TCA383498281VWFc.1595G>A (p.Gly532Asp)
n.420+52532G>A
dbSNP gnomAD v4
12g.6057984C>ACA383498283VWFc.1594G>T (p.Gly532Cys)
n.420+52531G>T
12g.6057984C=CA2013892169VWFc.1594G= (p.Gly532=)
n.420+52531G=
12g.6057984C>GCA232310706VWFc.1594G>C (p.Gly532Arg)
n.420+52531G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057984C>TCA383498284VWFc.1594G>A (p.Gly532Ser)
n.420+52531G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057985C>ACA383498285VWFc.1593G>T (p.Gln531His)
n.420+52530G>T
12g.6057985C>GCA383498286VWFc.1593G>C (p.Gln531His)
n.420+52530G>C
12g.6057985C>TCA478104066VWFc.1593G>A (p.Gln531=)
n.420+52530G>A
COSMIC
12g.6057986T>ACA383498287VWFc.1592A>T (p.Gln531Leu)
n.420+52529A>T
gnomAD v4
12g.6057986T>CCA383498289VWFc.1592A>G (p.Gln531Arg)
n.420+52529A>G
12g.6057986T>GCA383498288VWFc.1592A>C (p.Gln531Pro)
n.420+52529A>C
12g.6057987G>ACA383498290VWFc.1591C>T (p.Gln531Ter)
n.420+52528C>T
dbSNP
12g.6057987G>CCA383498291VWFc.1591C>G (p.Gln531Glu)
n.420+52528C>G
dbSNP
12g.6057987G=CA2013892174VWFc.1591C= (p.Gln531=)
n.420+52528C=
12g.6057987G>TCA383498292VWFc.1591C>A (p.Gln531Lys)
n.420+52528C>A
12g.6057988G>ACA478104067VWFc.1590C>T (p.Asn530=)
n.420+52527C>T
gnomAD v4
12g.6057988G>CCA383498293VWFc.1590C>G (p.Asn530Lys)
n.420+52527C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.6057988G=CA2013892179VWFc.1590C= (p.Asn530=)
n.420+52527C=
12g.6057988G>TCA6403335VWFc.1590C>A (p.Asn530Lys)
n.420+52527C>A
dbSNP ExAC gnomAD v4
12g.6057989T>ACA383498294VWFc.1589A>T (p.Asn530Ile)
n.420+52526A>T
12g.6057989T>CCA383498295VWFc.1589A>G (p.Asn530Ser)
n.420+52526A>G
dbSNP gnomAD v2 gnomAD v4
12g.6057989T>GCA383498296VWFc.1589A>C (p.Asn530Thr)
n.420+52526A>C
gnomAD v4
12g.6057989T=CA2013892183VWFc.1589A= (p.Asn530=)
n.420+52526A=
12g.6057990T>ACA383498297VWFc.1588A>T (p.Asn530Tyr)
n.420+52525A>T
12g.6057990T>CCA383498298VWFc.1588A>G (p.Asn530Asp)
n.420+52525A>G
ClinVar dbSNP
12g.6057990T>GCA383498299VWFc.1588A>C (p.Asn530His)
n.420+52525A>C
12g.6057990T=CA2013892186VWFc.1588A= (p.Asn530=)
n.420+52525A=
12g.6057991G>ACA478104068VWFc.1587C>T (p.Gly529=)
n.420+52524C>T
dbSNP gnomAD v2 gnomAD v4
12g.6057991G>CCA478104069VWFc.1587C>G (p.Gly529=)
n.420+52524C>G
12g.6057991G=CA2013892188VWFc.1587C= (p.Gly529=)
n.420+52524C=
12g.6057991G>TCA478104070VWFc.1587C>A (p.Gly529=)
n.420+52524C>A
12g.6057992C>ACA383498302VWFc.1586G>T (p.Gly529Val)
n.420+52523G>T
gnomAD v4
12g.6057992C=CA2013892191VWFc.1586G= (p.Gly529=)
n.420+52523G=
12g.6057992C>GCA383498301VWFc.1586G>C (p.Gly529Ala)
n.420+52523G>C
12g.6057992C>TCA383498300VWFc.1586G>A (p.Gly529Asp)
n.420+52523G>A
dbSNP gnomAD v2 gnomAD v4
12g.6057993C>ACA383498303VWFc.1585G>T (p.Gly529Cys)
n.420+52522G>T
12g.6057993C>GCA383498305VWFc.1585G>C (p.Gly529Arg)
n.420+52522G>C
12g.6057993C>TCA383498304VWFc.1585G>A (p.Gly529Ser)
n.420+52522G>A
12g.6057994A=CA2013892194VWFc.1584T= (p.Asn528=)
n.420+52521T=
12g.6057994A>CCA383498306VWFc.1584T>G (p.Asn528Lys)
n.420+52521T>G
12g.6057994A>GCA478104071VWFc.1584T>C (p.Asn528=)
n.420+52521T>C
dbSNP gnomAD v3 gnomAD v4
12g.6057994A>TCA383498307VWFc.1584T>A (p.Asn528Lys)
n.420+52521T>A
12g.6057995T>ACA383498308VWFc.1583A>T (p.Asn528Ile)
n.420+52520A>T
12g.6057995T>CCA114178VWFc.1583A>G (p.Asn528Ser)
n.420+52520A>G
ClinVar dbSNP ExAC gnomAD v2
12g.6057995T>GCA383498309VWFc.1583A>C (p.Asn528Thr)
n.420+52520A>C
12g.6057995T=CA2013892198VWFc.1583A= (p.Asn528=)
n.420+52520A=
12g.6057996T>ACA383498310VWFc.1582A>T (p.Asn528Tyr)
n.420+52519A>T
12g.6057996T>CCA383498311VWFc.1582A>G (p.Asn528Asp)
n.420+52519A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6057996T>GCA383498312VWFc.1582A>C (p.Asn528His)
n.420+52519A>C
12g.6057996T=CA2013892204VWFc.1582A= (p.Asn528=)
n.420+52519A=
12g.6057997delCA2499221825VWFc.1581del (p.Tyr527Ter)
n.420+52518del
ClinVar dbSNP
12g.6057997G>ACA478104072VWFc.1581C>T (p.Tyr527=)
n.420+52518C>T
12g.6057997G>CCA383498313VWFc.1581C>G (p.Tyr527Ter)
n.420+52518C>G
dbSNP gnomAD v2 gnomAD v4
12g.6057997G=CA2013892206VWFc.1581C= (p.Tyr527=)
n.420+52518C=
12g.6057997G>TCA383498314VWFc.1581C>A (p.Tyr527Ter)
n.420+52518C>A
12g.6057998T>ACA383498315VWFc.1580A>T (p.Tyr527Phe)
n.420+52517A>T
12g.6057998T>CCA383498316VWFc.1580A>G (p.Tyr527Cys)
n.420+52517A>G
12g.6057998T>GCA383498317VWFc.1580A>C (p.Tyr527Ser)
n.420+52517A>C
12g.6057999A>CCA383498318VWFc.1579T>G (p.Tyr527Asp)
n.420+52516T>G
12g.6057999A>GCA383498320VWFc.1579T>C (p.Tyr527His)
n.420+52516T>C
12g.6057999A>TCA383498319VWFc.1579T>A (p.Tyr527Asn)
n.420+52516T>A
12g.6058000A>CCA383498321VWFc.1578T>G (p.Asn526Lys)
n.420+52515T>G
12g.6058000A>GCA478104073VWFc.1578T>C (p.Asn526=)
n.420+52515T>C
12g.6058000A>TCA383498322VWFc.1578T>A (p.Asn526Lys)
n.420+52515T>A
12g.6058001T>ACA383498323VWFc.1577A>T (p.Asn526Ile)
n.420+52514A>T
12g.6058001T>CCA383498324VWFc.1577A>G (p.Asn526Ser)
n.420+52514A>G
12g.6058001T>GCA383498325VWFc.1577A>C (p.Asn526Thr)
n.420+52514A>C
12g.6058002T>ACA383498326VWFc.1576A>T (p.Asn526Tyr)
n.420+52513A>T
12g.6058002T>CCA383498327VWFc.1576A>G (p.Asn526Asp)
n.420+52513A>G
12g.6058002T>GCA383498328VWFc.1576A>C (p.Asn526His)
n.420+52513A>C
12g.6058003C>ACA6403337VWFc.1575G>T (p.Gly525=)
n.420+52512G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6058003C=CA2013892209VWFc.1575G= (p.Gly525=)
n.420+52512G=
12g.6058003C>GCA478104074VWFc.1575G>C (p.Gly525=)
n.420+52512G>C
12g.6058003C>TCA6403336VWFc.1575G>A (p.Gly525=)
n.420+52512G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6058004C>ACA383498331VWFc.1574G>T (p.Gly525Val)
n.420+52511G>T
12g.6058004C>GCA383498330VWFc.1574G>C (p.Gly525Ala)
n.420+52511G>C
12g.6058004C>TCA383498329VWFc.1574G>A (p.Gly525Glu)
n.420+52511G>A
ClinVar dbSNP
12g.6058005C>ACA383498332VWFc.1573G>T (p.Gly525Trp)
n.420+52510G>T
gnomAD v4
12g.6058005C=CA2013892212VWFc.1573G= (p.Gly525=)
n.420+52510G=
12g.6058005C>GCA383498333VWFc.1573G>C (p.Gly525Arg)
n.420+52510G>C
ClinVar
12g.6058005C>TCA228277VWFc.1573G>A (p.Gly525Arg)
n.420+52510G>A
ClinVar dbSNP
12g.6058006A>CCA383498334VWFc.1572T>G (p.Cys524Trp)
n.420+52509T>G
12g.6058006A>GCA478104075VWFc.1572T>C (p.Cys524=)
n.420+52509T>C
gnomAD v4
12g.6058006A>TCA383498335VWFc.1572T>A (p.Cys524Ter)
n.420+52509T>A
12g.6058007C>ACA383498336VWFc.1571G>T (p.Cys524Phe)
n.420+52508G>T
12g.6058007C=CA2013892217VWFc.1571G= (p.Cys524=)
n.420+52508G=
12g.6058007C>GCA383498337VWFc.1571G>C (p.Cys524Ser)
n.420+52508G>C
12g.6058007C>TCA232310729VWFc.1571G>A (p.Cys524Tyr)
n.420+52508G>A
dbSNP gnomAD v3 gnomAD v4
12g.6058008A>CCA383498338VWFc.1570T>G (p.Cys524Gly)
n.420+52507T>G
12g.6058008A>GCA383498339VWFc.1570T>C (p.Cys524Arg)
n.420+52507T>C
12g.6058008A>TCA383498340VWFc.1570T>A (p.Cys524Ser)
n.420+52507T>A
12g.6058009C>ACA478104076VWFc.1569G>T (p.Leu523=)
n.420+52506G>T
12g.6058009C=CA2013892219VWFc.1569G= (p.Leu523=)
n.420+52506G=
12g.6058009C>GCA478104077VWFc.1569G>C (p.Leu523=)
n.420+52506G>C
dbSNP gnomAD v2 gnomAD v4
12g.6058009C>TCA478104078VWFc.1569G>A (p.Leu523=)
n.420+52506G>A
12g.6058010A>CCA383498341VWFc.1568T>G (p.Leu523Arg)
n.420+52505T>G
12g.6058010A>GCA383498342VWFc.1568T>C (p.Leu523Pro)
n.420+52505T>C
12g.6058010A>TCA383498343VWFc.1568T>A (p.Leu523Gln)
n.420+52505T>A
12g.6058011G>ACA478104079VWFc.1567C>T (p.Leu523=)
n.420+52504C>T
12g.6058011G>CCA383498344VWFc.1567C>G (p.Leu523Val)
n.420+52504C>G
12g.6058011G>TCA383498345VWFc.1567C>A (p.Leu523Met)
n.420+52504C>A
12g.6058012G>ACA478104080VWFc.1566C>T (p.Gly522=)
n.420+52503C>T
12g.6058012G>CCA478104081VWFc.1566C>G (p.Gly522=)
n.420+52503C>G
12g.6058012G>TCA478104082VWFc.1566C>A (p.Gly522=)
n.420+52503C>A
12g.6058013C>ACA383498346VWFc.1565G>T (p.Gly522Val)
n.420+52502G>T
12g.6058013C>GCA383498347VWFc.1565G>C (p.Gly522Ala)
n.420+52502G>C
12g.6058013C>TCA383498348VWFc.1565G>A (p.Gly522Asp)
n.420+52502G>A
12g.6058014C>ACA383498349VWFc.1564G>T (p.Gly522Cys)
n.420+52501G>T
12g.6058014C>GCA383498350VWFc.1564G>C (p.Gly522Arg)
n.420+52501G>C
12g.6058014C>TCA383498351VWFc.1564G>A (p.Gly522Ser)
n.420+52501G>A
gnomAD v4
12g.6058015G>ACA6403338VWFc.1563C>T (p.Cys521=)
n.420+52500C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6058015G>CCA383498352VWFc.1563C>G (p.Cys521Trp)
n.420+52500C>G
12g.6058015G=CA2013892230VWFc.1563C= (p.Cys521=)
n.420+52500C=
12g.6058015G>TCA383498353VWFc.1563C>A (p.Cys521Ter)
n.420+52500C>A
12g.6058015_6058016delinsAGCA645509534VWFc.1562_1563delinsCT (p.Cys521Ser)
n.420+52499_420+52500delinsCT
ClinVar dbSNP
12g.6058015_6058016delinsGCCA2013892226VWFc.1562_1563delinsGC (p.Cys521=)
n.420+52499_420+52500delinsGC
12g.6058016C>ACA383498354VWFc.1562G>T (p.Cys521Phe)
n.420+52499G>T
12g.6058016C=CA2013892236VWFc.1562G= (p.Cys521=)
n.420+52499G=
12g.6058016C>GCA6403339VWFc.1562G>C (p.Cys521Ser)
n.420+52499G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6058016C>TCA383498355VWFc.1562G>A (p.Cys521Tyr)
n.420+52499G>A
12g.6058017A>CCA383498357VWFc.1561T>G (p.Cys521Gly)
n.420+52498T>G
gnomAD v4
12g.6058017A>GCA383498358VWFc.1561T>C (p.Cys521Arg)
n.420+52498T>C
gnomAD v4
12g.6058017A>TCA383498356VWFc.1561T>A (p.Cys521Ser)
n.420+52498T>A
12g.6058018G>ACA478104083VWFc.1560C>T (p.Thr520=)
n.420+52497C>T
dbSNP
12g.6058018G>CCA478104084VWFc.1560C>G (p.Thr520=)
n.420+52497C>G
12g.6058018G=CA2013892240VWFc.1560C= (p.Thr520=)
n.420+52497C=
12g.6058018G>TCA478104085VWFc.1560C>A (p.Thr520=)
n.420+52497C>A
12g.6058019G>ACA383498360VWFc.1559C>T (p.Thr520Ile)
n.420+52496C>T
12g.6058019G>CCA383498359VWFc.1559C>G (p.Thr520Ser)
n.420+52496C>G
12g.6058019G>TCA383498361VWFc.1559C>A (p.Thr520Asn)
n.420+52496C>A
12g.6058020T>ACA383498362VWFc.1558A>T (p.Thr520Ser)
n.420+52495A>T
12g.6058020T>CCA383498364VWFc.1558A>G (p.Thr520Ala)
n.420+52495A>G
12g.6058020T>GCA383498363VWFc.1558A>C (p.Thr520Pro)
n.420+52495A>C
12g.6058021C>ACA383498365VWFc.1557G>T (p.Lys519Asn)
n.420+52494G>T
12g.6058021C>GCA383498366VWFc.1557G>C (p.Lys519Asn)
n.420+52494G>C
gnomAD v4
12g.6058021C>TCA478104086VWFc.1557G>A (p.Lys519=)
n.420+52494G>A

Number of alleles fetched