Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71437934C>ACA381703154DHCR7c.841G>T (p.Val281Leu)
c.667G>T (p.Val223Leu)
c.892G>T (p.Val298Leu)
c.877G>T (p.Val293Leu)
n.881G>T
c.256G>T (p.Val86Leu)
c.745G>T (p.Val249Leu)
c.208G>T (p.Val70Leu)
c.91G>T (p.Val31Leu)
c.197G>T
11g.71437934C=CA1981488057DHCR7c.841G= (p.Val281=)
c.667G= (p.Val223=)
c.892G= (p.Val298=)
c.877G= (p.Val293=)
n.881G=
c.256G= (p.Val86=)
c.745G= (p.Val249=)
c.208G= (p.Val70=)
c.91G= (p.Val31=)
c.197G=
11g.71437934C>GCA381703155DHCR7c.841G>C (p.Val281Leu)
c.667G>C (p.Val223Leu)
c.892G>C (p.Val298Leu)
c.877G>C (p.Val293Leu)
n.881G>C
c.256G>C (p.Val86Leu)
c.745G>C (p.Val249Leu)
c.208G>C (p.Val70Leu)
c.91G>C (p.Val31Leu)
c.197G>C
11g.71437934C>TCA221680DHCR7c.841G>A (p.Val281Met)
c.667G>A (p.Val223Met)
c.892G>A (p.Val298Met)
c.877G>A (p.Val293Met)
n.881G>A
c.256G>A (p.Val86Met)
c.745G>A (p.Val249Met)
c.208G>A (p.Val70Met)
c.91G>A (p.Val31Met)
c.197G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437935G>ACA6162416DHCR7c.840C>T (p.Tyr280=)
c.666C>T (p.Tyr222=)
c.891C>T (p.Tyr297=)
c.876C>T (p.Tyr292=)
n.880C>T
c.255C>T (p.Tyr85=)
c.744C>T (p.Tyr248=)
c.207C>T (p.Tyr69=)
c.90C>T (p.Tyr30=)
c.196C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437935G>CCA381703156DHCR7c.840C>G (p.Tyr280Ter)
c.666C>G (p.Tyr222Ter)
c.891C>G (p.Tyr297Ter)
c.876C>G (p.Tyr292Ter)
n.880C>G
c.255C>G (p.Tyr85Ter)
c.744C>G (p.Tyr248Ter)
c.207C>G (p.Tyr69Ter)
c.90C>G (p.Tyr30Ter)
c.196C>G
11g.71437935G=CA1981488058DHCR7c.840C= (p.Tyr280=)
c.666C= (p.Tyr222=)
c.891C= (p.Tyr297=)
c.876C= (p.Tyr292=)
n.880C=
c.255C= (p.Tyr85=)
c.744C= (p.Tyr248=)
c.207C= (p.Tyr69=)
c.90C= (p.Tyr30=)
c.196C=
11g.71437935G>TCA381703157DHCR7c.840C>A (p.Tyr280Ter)
c.666C>A (p.Tyr222Ter)
c.891C>A (p.Tyr297Ter)
c.876C>A (p.Tyr292Ter)
n.880C>A
c.255C>A (p.Tyr85Ter)
c.744C>A (p.Tyr248Ter)
c.207C>A (p.Tyr69Ter)
c.90C>A (p.Tyr30Ter)
c.196C>A
 dbSNP gnomAD v2
11g.71437936T>ACA381703158DHCR7c.839A>T (p.Tyr280Phe)
c.665A>T (p.Tyr222Phe)
c.890A>T (p.Tyr297Phe)
c.875A>T (p.Tyr292Phe)
n.879A>T
c.254A>T (p.Tyr85Phe)
c.743A>T (p.Tyr248Phe)
c.206A>T (p.Tyr69Phe)
c.89A>T (p.Tyr30Phe)
c.195A>T
11g.71437936T>CCA253949DHCR7c.839A>G (p.Tyr280Cys)
c.665A>G (p.Tyr222Cys)
c.890A>G (p.Tyr297Cys)
c.875A>G (p.Tyr292Cys)
n.879A>G
c.254A>G (p.Tyr85Cys)
c.743A>G (p.Tyr248Cys)
c.206A>G (p.Tyr69Cys)
c.89A>G (p.Tyr30Cys)
c.195A>G
 ClinVar dbSNP
11g.71437936T>GCA381703159DHCR7c.839A>C (p.Tyr280Ser)
c.665A>C (p.Tyr222Ser)
c.890A>C (p.Tyr297Ser)
c.875A>C (p.Tyr292Ser)
n.879A>C
c.254A>C (p.Tyr85Ser)
c.743A>C (p.Tyr248Ser)
c.206A>C (p.Tyr69Ser)
c.89A>C (p.Tyr30Ser)
c.195A>C
11g.71437936T=CA1981488059DHCR7c.839A= (p.Tyr280=)
c.665A= (p.Tyr222=)
c.890A= (p.Tyr297=)
c.875A= (p.Tyr292=)
n.879A=
c.254A= (p.Tyr85=)
c.743A= (p.Tyr248=)
c.206A= (p.Tyr69=)
c.89A= (p.Tyr30=)
c.195A=
11g.71437937A>CCA381703160DHCR7c.838T>G (p.Tyr280Asp)
c.664T>G (p.Tyr222Asp)
c.889T>G (p.Tyr297Asp)
c.874T>G (p.Tyr292Asp)
n.878T>G
c.253T>G (p.Tyr85Asp)
c.742T>G (p.Tyr248Asp)
c.205T>G (p.Tyr69Asp)
c.88T>G (p.Tyr30Asp)
c.194T>G
 ClinVar
11g.71437937A>GCA381703161DHCR7c.838T>C (p.Tyr280His)
c.664T>C (p.Tyr222His)
c.889T>C (p.Tyr297His)
c.874T>C (p.Tyr292His)
n.878T>C
c.253T>C (p.Tyr85His)
c.742T>C (p.Tyr248His)
c.205T>C (p.Tyr69His)
c.88T>C (p.Tyr30His)
c.194T>C
11g.71437937A>TCA381703162DHCR7c.838T>A (p.Tyr280Asn)
c.664T>A (p.Tyr222Asn)
c.889T>A (p.Tyr297Asn)
c.874T>A (p.Tyr292Asn)
n.878T>A
c.253T>A (p.Tyr85Asn)
c.742T>A (p.Tyr248Asn)
c.205T>A (p.Tyr69Asn)
c.88T>A (p.Tyr30Asn)
c.194T>A
11g.71437938G>ACA475567901DHCR7c.837C>T (p.Ile279=)
c.663C>T (p.Ile221=)
c.888C>T (p.Ile296=)
c.873C>T (p.Ile291=)
n.877C>T
c.252C>T (p.Ile84=)
c.741C>T (p.Ile247=)
c.204C>T (p.Ile68=)
c.87C>T (p.Ile29=)
c.193C>T
 ClinVar dbSNP gnomAD v4
11g.71437938G>CCA381703163DHCR7c.837C>G (p.Ile279Met)
c.663C>G (p.Ile221Met)
c.888C>G (p.Ile296Met)
c.873C>G (p.Ile291Met)
n.877C>G
c.252C>G (p.Ile84Met)
c.741C>G (p.Ile247Met)
c.204C>G (p.Ile68Met)
c.87C>G (p.Ile29Met)
c.193C>G
11g.71437938G=CA1981488060DHCR7c.837C= (p.Ile279=)
c.663C= (p.Ile221=)
c.888C= (p.Ile296=)
c.873C= (p.Ile291=)
n.877C=
c.252C= (p.Ile84=)
c.741C= (p.Ile247=)
c.204C= (p.Ile68=)
c.87C= (p.Ile29=)
c.193C=
11g.71437938G>TCA475567905DHCR7c.837C>A (p.Ile279=)
c.663C>A (p.Ile221=)
c.888C>A (p.Ile296=)
c.873C>A (p.Ile291=)
n.877C>A
c.252C>A (p.Ile84=)
c.741C>A (p.Ile247=)
c.204C>A (p.Ile68=)
c.87C>A (p.Ile29=)
c.193C>A
11g.71437939A=CA1981488061DHCR7c.836T= (p.Ile279=)
c.662T= (p.Ile221=)
c.887T= (p.Ile296=)
c.872T= (p.Ile291=)
n.876T=
c.251T= (p.Ile84=)
c.740T= (p.Ile247=)
c.203T= (p.Ile68=)
c.86T= (p.Ile29=)
c.192T=
11g.71437939A>CCA381703166DHCR7c.836T>G (p.Ile279Ser)
c.662T>G (p.Ile221Ser)
c.887T>G (p.Ile296Ser)
c.872T>G (p.Ile291Ser)
n.876T>G
c.251T>G (p.Ile84Ser)
c.740T>G (p.Ile247Ser)
c.203T>G (p.Ile68Ser)
c.86T>G (p.Ile29Ser)
c.192T>G
11g.71437939A>GCA381703165DHCR7c.836T>C (p.Ile279Thr)
c.662T>C (p.Ile221Thr)
c.887T>C (p.Ile296Thr)
c.872T>C (p.Ile291Thr)
n.876T>C
c.251T>C (p.Ile84Thr)
c.740T>C (p.Ile247Thr)
c.203T>C (p.Ile68Thr)
c.86T>C (p.Ile29Thr)
c.192T>C
 dbSNP
11g.71437939A>TCA381703164DHCR7c.836T>A (p.Ile279Asn)
c.662T>A (p.Ile221Asn)
c.887T>A (p.Ile296Asn)
c.872T>A (p.Ile291Asn)
n.876T>A
c.251T>A (p.Ile84Asn)
c.740T>A (p.Ile247Asn)
c.203T>A (p.Ile68Asn)
c.86T>A (p.Ile29Asn)
c.192T>A
11g.71437940T>ACA381703167DHCR7c.835A>T (p.Ile279Phe)
c.661A>T (p.Ile221Phe)
c.886A>T (p.Ile296Phe)
c.871A>T (p.Ile291Phe)
n.875A>T
c.250A>T (p.Ile84Phe)
c.739A>T (p.Ile247Phe)
c.202A>T (p.Ile68Phe)
c.85A>T (p.Ile29Phe)
c.191A>T
11g.71437940T>CCA6162417DHCR7c.835A>G (p.Ile279Val)
c.661A>G (p.Ile221Val)
c.886A>G (p.Ile296Val)
c.871A>G (p.Ile291Val)
n.875A>G
c.250A>G (p.Ile84Val)
c.739A>G (p.Ile247Val)
c.202A>G (p.Ile68Val)
c.85A>G (p.Ile29Val)
c.191A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437940T>GCA381703168DHCR7c.835A>C (p.Ile279Leu)
c.661A>C (p.Ile221Leu)
c.886A>C (p.Ile296Leu)
c.871A>C (p.Ile291Leu)
n.875A>C
c.250A>C (p.Ile84Leu)
c.739A>C (p.Ile247Leu)
c.202A>C (p.Ile68Leu)
c.85A>C (p.Ile29Leu)
c.191A>C
11g.71437940T=CA1981488062DHCR7c.835A= (p.Ile279=)
c.661A= (p.Ile221=)
c.886A= (p.Ile296=)
c.871A= (p.Ile291=)
n.875A=
c.250A= (p.Ile84=)
c.739A= (p.Ile247=)
c.202A= (p.Ile68=)
c.85A= (p.Ile29=)
c.191A=
11g.71437941G>ACA475567920DHCR7c.834C>T (p.Ala278=)
c.660C>T (p.Ala220=)
c.885C>T (p.Ala295=)
c.870C>T (p.Ala290=)
n.874C>T
c.249C>T (p.Ala83=)
c.738C>T (p.Ala246=)
c.201C>T (p.Ala67=)
c.84C>T (p.Ala28=)
c.190C>T
11g.71437941G>CCA475567926DHCR7c.834C>G (p.Ala278=)
c.660C>G (p.Ala220=)
c.885C>G (p.Ala295=)
c.870C>G (p.Ala290=)
n.874C>G
c.249C>G (p.Ala83=)
c.738C>G (p.Ala246=)
c.201C>G (p.Ala67=)
c.84C>G (p.Ala28=)
c.190C>G
11g.71437941G>TCA475567923DHCR7c.834C>A (p.Ala278=)
c.660C>A (p.Ala220=)
c.885C>A (p.Ala295=)
c.870C>A (p.Ala290=)
n.874C>A
c.249C>A (p.Ala83=)
c.738C>A (p.Ala246=)
c.201C>A (p.Ala67=)
c.84C>A (p.Ala28=)
c.190C>A
11g.71437942G>ACA381703169DHCR7c.833C>T (p.Ala278Val)
c.659C>T (p.Ala220Val)
c.884C>T (p.Ala295Val)
c.869C>T (p.Ala290Val)
n.873C>T
c.248C>T (p.Ala83Val)
c.737C>T (p.Ala246Val)
c.200C>T (p.Ala67Val)
c.83C>T (p.Ala28Val)
c.189C>T
 dbSNP gnomAD v2 gnomAD v4
11g.71437942G>CCA381703170DHCR7c.833C>G (p.Ala278Gly)
c.659C>G (p.Ala220Gly)
c.884C>G (p.Ala295Gly)
c.869C>G (p.Ala290Gly)
n.873C>G
c.248C>G (p.Ala83Gly)
c.737C>G (p.Ala246Gly)
c.200C>G (p.Ala67Gly)
c.83C>G (p.Ala28Gly)
c.189C>G
11g.71437942G=CA1981488063DHCR7c.833C= (p.Ala278=)
c.659C= (p.Ala220=)
c.884C= (p.Ala295=)
c.869C= (p.Ala290=)
n.873C=
c.248C= (p.Ala83=)
c.737C= (p.Ala246=)
c.200C= (p.Ala67=)
c.83C= (p.Ala28=)
c.189C=
11g.71437942G>TCA381703171DHCR7c.833C>A (p.Ala278Asp)
c.659C>A (p.Ala220Asp)
c.884C>A (p.Ala295Asp)
c.869C>A (p.Ala290Asp)
n.873C>A
c.248C>A (p.Ala83Asp)
c.737C>A (p.Ala246Asp)
c.200C>A (p.Ala67Asp)
c.83C>A (p.Ala28Asp)
c.189C>A
11g.71437943C>ACA381703172DHCR7c.832G>T (p.Ala278Ser)
c.658G>T (p.Ala220Ser)
c.883G>T (p.Ala295Ser)
c.868G>T (p.Ala290Ser)
n.872G>T
c.247G>T (p.Ala83Ser)
c.736G>T (p.Ala246Ser)
c.199G>T (p.Ala67Ser)
c.82G>T (p.Ala28Ser)
c.188G>T
11g.71437943C>GCA381703173DHCR7c.832G>C (p.Ala278Pro)
c.658G>C (p.Ala220Pro)
c.883G>C (p.Ala295Pro)
c.868G>C (p.Ala290Pro)
n.872G>C
c.247G>C (p.Ala83Pro)
c.736G>C (p.Ala246Pro)
c.199G>C (p.Ala67Pro)
c.82G>C (p.Ala28Pro)
c.188G>C
 ClinVar dbSNP
11g.71437943C>TCA381703174DHCR7c.832G>A (p.Ala278Thr)
c.658G>A (p.Ala220Thr)
c.883G>A (p.Ala295Thr)
c.868G>A (p.Ala290Thr)
n.872G>A
c.247G>A (p.Ala83Thr)
c.736G>A (p.Ala246Thr)
c.199G>A (p.Ala67Thr)
c.82G>A (p.Ala28Thr)
c.188G>A
 gnomAD v4
11g.71437944C>ACA381703175DHCR7c.832-1G>T (n.832-1G>T)
c.658-1G>T (n.658-1G>T)
c.883-1G>T (n.883-1G>T)
c.868-1G>T (n.868-1G>T)
n.872-1G>T
c.247-1G>T (n.247-1G>T)
c.736-1G>T (n.736-1G>T)
c.199-1G>T (n.199-1G>T)
c.82-1G>T (n.82-1G>T)
c.188-1G>T
 gnomAD v4
11g.71437944C=CA1981488064DHCR7c.832-1G= (n.832-1G=)
c.658-1G= (n.658-1G=)
c.883-1G= (n.883-1G=)
c.868-1G= (n.868-1G=)
n.872-1G=
c.247-1G= (n.247-1G=)
c.736-1G= (n.736-1G=)
c.199-1G= (n.199-1G=)
c.82-1G= (n.82-1G=)
c.188-1G=
11g.71437944C>GCA340608DHCR7c.832-1G>C (n.832-1G>C)
c.658-1G>C (n.658-1G>C)
c.883-1G>C (n.883-1G>C)
c.868-1G>C (n.868-1G>C)
n.872-1G>C
c.247-1G>C (n.247-1G>C)
c.736-1G>C (n.736-1G>C)
c.199-1G>C (n.199-1G>C)
c.82-1G>C (n.82-1G>C)
c.188-1G>C
 ClinVar dbSNP
11g.71437944C>TCA381703176DHCR7c.832-1G>A (n.832-1G>A)
c.658-1G>A (n.658-1G>A)
c.883-1G>A (n.883-1G>A)
c.868-1G>A (n.868-1G>A)
n.872-1G>A
c.247-1G>A (n.247-1G>A)
c.736-1G>A (n.736-1G>A)
c.199-1G>A (n.199-1G>A)
c.82-1G>A (n.82-1G>A)
c.188-1G>A
 dbSNP gnomAD v3 gnomAD v4
11g.71437945T>ACA381703179DHCR7c.832-2A>T (n.832-2A>T)
c.658-2A>T (n.658-2A>T)
c.883-2A>T (n.883-2A>T)
c.868-2A>T (n.868-2A>T)
n.872-2A>T
c.247-2A>T (n.247-2A>T)
c.736-2A>T (n.736-2A>T)
c.199-2A>T (n.199-2A>T)
c.82-2A>T (n.82-2A>T)
c.188-2A>T
11g.71437945T>CCA381703178DHCR7c.832-2A>G (n.832-2A>G)
c.658-2A>G (n.658-2A>G)
c.883-2A>G (n.883-2A>G)
c.868-2A>G (n.868-2A>G)
n.872-2A>G
c.247-2A>G (n.247-2A>G)
c.736-2A>G (n.736-2A>G)
c.199-2A>G (n.199-2A>G)
c.82-2A>G (n.82-2A>G)
c.188-2A>G
11g.71437945T>GCA381703177DHCR7c.832-2A>C (n.832-2A>C)
c.658-2A>C (n.658-2A>C)
c.883-2A>C (n.883-2A>C)
c.868-2A>C (n.868-2A>C)
n.872-2A>C
c.247-2A>C (n.247-2A>C)
c.736-2A>C (n.736-2A>C)
c.199-2A>C (n.199-2A>C)
c.82-2A>C (n.82-2A>C)
c.188-2A>C
11g.71437946G>ACA600051919DHCR7c.832-3C>T (n.832-3C>T)
c.658-3C>T (n.658-3C>T)
c.883-3C>T (n.883-3C>T)
c.868-3C>T (n.868-3C>T)
n.872-3C>T
c.247-3C>T (n.247-3C>T)
c.736-3C>T (n.736-3C>T)
c.199-3C>T (n.199-3C>T)
c.82-3C>T (n.82-3C>T)
c.188-3C>T
 dbSNP gnomAD v2
11g.71437946G=CA1981488065DHCR7c.832-3C= (n.832-3C=)
c.658-3C= (n.658-3C=)
c.883-3C= (n.883-3C=)
c.868-3C= (n.868-3C=)
n.872-3C=
c.247-3C= (n.247-3C=)
c.736-3C= (n.736-3C=)
c.199-3C= (n.199-3C=)
c.82-3C= (n.82-3C=)
c.188-3C=
11g.71437946G>TCA2614858517DHCR7c.832-3C>A (n.832-3C>A)
c.658-3C>A (n.658-3C>A)
c.883-3C>A (n.883-3C>A)
c.868-3C>A (n.868-3C>A)
n.872-3C>A
c.247-3C>A (n.247-3C>A)
c.736-3C>A (n.736-3C>A)
c.199-3C>A (n.199-3C>A)
c.82-3C>A (n.82-3C>A)
c.188-3C>A
 gnomAD v4
11g.71437947C>ACA2499221288DHCR7c.832-4G>T (n.832-4G>T)
c.658-4G>T (n.658-4G>T)
c.883-4G>T (n.883-4G>T)
c.868-4G>T (n.868-4G>T)
n.872-4G>T
c.247-4G>T (n.247-4G>T)
c.736-4G>T (n.736-4G>T)
c.199-4G>T (n.199-4G>T)
c.82-4G>T (n.82-4G>T)
c.188-4G>T
 ClinVar dbSNP
11g.71437947C=CA1981488066DHCR7c.832-4G= (n.832-4G=)
c.658-4G= (n.658-4G=)
c.883-4G= (n.883-4G=)
c.868-4G= (n.868-4G=)
n.872-4G=
c.247-4G= (n.247-4G=)
c.736-4G= (n.736-4G=)
c.199-4G= (n.199-4G=)
c.82-4G= (n.82-4G=)
c.188-4G=
11g.71437947C>TCA6162418DHCR7c.832-4G>A (n.832-4G>A)
c.658-4G>A (n.658-4G>A)
c.883-4G>A (n.883-4G>A)
c.868-4G>A (n.868-4G>A)
n.872-4G>A
c.247-4G>A (n.247-4G>A)
c.736-4G>A (n.736-4G>A)
c.199-4G>A (n.199-4G>A)
c.82-4G>A (n.82-4G>A)
c.188-4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched