Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6018505_6018526delinsCAATCA2695196767VWFc.4892_4913delinsATTG (p.Gly1631_Glu1638delinsAspTrp)
n.421-24592_421-24571delinsATTG
12g.6018509G>ACA383498716VWFc.4909C>T (p.Gln1637Ter)
n.421-24575C>T
12g.6018509G>CCA383498717VWFc.4909C>G (p.Gln1637Glu)
n.421-24575C>G
12g.6018509G>TCA383498718VWFc.4909C>A (p.Gln1637Lys)
n.421-24575C>A
gnomAD v4
12g.6018510C>ACA478494028VWFc.4908G>T (p.Val1636=)
n.421-24576G>T
12g.6018510C>GCA478494029VWFc.4908G>C (p.Val1636=)
n.421-24576G>C
12g.6018510C>TCA478494030VWFc.4908G>A (p.Val1636=)
n.421-24576G>A
12g.6018511A=CA2013872550VWFc.4907T= (p.Val1636=)
n.421-24577T=
12g.6018511A>CCA383498719VWFc.4907T>G (p.Val1636Gly)
n.421-24577T>G
12g.6018511A>GCA383498721VWFc.4907T>C (p.Val1636Ala)
n.421-24577T>C
gnomAD v4
12g.6018511A>TCA383498720VWFc.4907T>A (p.Val1636Glu)
n.421-24577T>A
12g.6018512C>ACA383498722VWFc.4906G>T (p.Val1636Leu)
n.421-24578G>T
12g.6018512C=CA2013872551VWFc.4906G= (p.Val1636=)
n.421-24578G=
12g.6018512C>GCA383498723VWFc.4906G>C (p.Val1636Leu)
n.421-24578G>C
gnomAD v4
12g.6018512C>TCA6402441VWFc.4906G>A (p.Val1636Met)
n.421-24578G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018513G>ACA6402442VWFc.4905C>T (p.Asn1635=)
n.421-24579C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6018513G>CCA383498724VWFc.4905C>G (p.Asn1635Lys)
n.421-24579C>G
12g.6018513G=CA2013872552VWFc.4905C= (p.Asn1635=)
n.421-24579C=
12g.6018513G>TCA383498725VWFc.4905C>A (p.Asn1635Lys)
n.421-24579C>A
12g.6018514T>ACA6402443VWFc.4904A>T (p.Asn1635Ile)
n.421-24580A>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6018514T>CCA383498726VWFc.4904A>G (p.Asn1635Ser)
n.421-24580A>G
12g.6018514T>GCA383498727VWFc.4904A>C (p.Asn1635Thr)
n.421-24580A>C
12g.6018514T=CA2013872553VWFc.4904A= (p.Asn1635=)
n.421-24580A=
12g.6018515T>ACA383498728VWFc.4903A>T (p.Asn1635Tyr)
n.421-24581A>T
12g.6018515T>CCA383498729VWFc.4903A>G (p.Asn1635Asp)
n.421-24581A>G
12g.6018515T>GCA383498730VWFc.4903A>C (p.Asn1635His)
n.421-24581A>C
12g.6018516G>ACA478494031VWFc.4902C>T (p.Ala1634=)
n.421-24582C>T
12g.6018516G>CCA478494032VWFc.4902C>G (p.Ala1634=)
n.421-24582C>G
dbSNP gnomAD v2 gnomAD v4
12g.6018516G=CA2013872554VWFc.4902C= (p.Ala1634=)
n.421-24582C=
12g.6018516G>TCA478494033VWFc.4902C>A (p.Ala1634=)
n.421-24582C>A
12g.6018517G>ACA383498733VWFc.4901C>T (p.Ala1634Val)
n.421-24583C>T
gnomAD v4
12g.6018517G>CCA383498731VWFc.4901C>G (p.Ala1634Gly)
n.421-24583C>G
12g.6018517G>TCA383498732VWFc.4901C>A (p.Ala1634Asp)
n.421-24583C>A
12g.6018518C>ACA383498734VWFc.4900G>T (p.Ala1634Ser)
n.421-24584G>T
12g.6018518C>GCA383498735VWFc.4900G>C (p.Ala1634Pro)
n.421-24584G>C
12g.6018518C>TCA383498736VWFc.4900G>A (p.Ala1634Thr)
n.421-24584G>A
12g.6018519A>CCA383498737VWFc.4899T>G (p.Asn1633Lys)
n.421-24585T>G
12g.6018519A>GCA478494034VWFc.4899T>C (p.Asn1633=)
n.421-24585T>C
12g.6018519A>TCA383498738VWFc.4899T>A (p.Asn1633Lys)
n.421-24585T>A
12g.6018520T>ACA383498739VWFc.4898A>T (p.Asn1633Ile)
n.421-24586A>T
12g.6018520T>CCA383498740VWFc.4898A>G (p.Asn1633Ser)
n.421-24586A>G
12g.6018520T>GCA383498741VWFc.4898A>C (p.Asn1633Thr)
n.421-24586A>C
gnomAD v4
12g.6018521T>ACA383498742VWFc.4897A>T (p.Asn1633Tyr)
n.421-24587A>T
12g.6018521T>CCA383498743VWFc.4897A>G (p.Asn1633Asp)
n.421-24587A>G
12g.6018521T>GCA383498744VWFc.4897A>C (p.Asn1633His)
n.421-24587A>C
12g.6018522_6018536delCA2695216026VWFc.4883_4897del (p.Ile1628_Pro1632del)
n.421-24601_421-24587del
12g.6018522A>CCA478494035VWFc.4896T>G (p.Pro1632=)
n.421-24588T>G
12g.6018522A>GCA478494036VWFc.4896T>C (p.Pro1632=)
n.421-24588T>C
12g.6018522A>TCA478494037VWFc.4896T>A (p.Pro1632=)
n.421-24588T>A
12g.6018523G>ACA383498747VWFc.4895C>T (p.Pro1632Leu)
n.421-24589C>T

Number of alleles fetched