Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71437822T>ACA381702894DHCR7c.953A>T (p.Tyr318Phe)
c.779A>T (p.Tyr260Phe)
c.1004A>T (p.Tyr335Phe)
c.989A>T (p.Tyr330Phe)
n.993A>T
c.368A>T (p.Tyr123Phe)
c.857A>T (p.Tyr286Phe)
c.320A>T (p.Tyr107Phe)
c.203A>T (p.Tyr68Phe)
c.309A>T
 dbSNP gnomAD v2
11g.71437822T>CCA381702895DHCR7c.953A>G (p.Tyr318Cys)
c.779A>G (p.Tyr260Cys)
c.1004A>G (p.Tyr335Cys)
c.989A>G (p.Tyr330Cys)
n.993A>G
c.368A>G (p.Tyr123Cys)
c.857A>G (p.Tyr286Cys)
c.320A>G (p.Tyr107Cys)
c.203A>G (p.Tyr68Cys)
c.309A>G
 ClinVar dbSNP
11g.71437822T>GCA381702896DHCR7c.953A>C (p.Tyr318Ser)
c.779A>C (p.Tyr260Ser)
c.1004A>C (p.Tyr335Ser)
c.989A>C (p.Tyr330Ser)
n.993A>C
c.368A>C (p.Tyr123Ser)
c.857A>C (p.Tyr286Ser)
c.320A>C (p.Tyr107Ser)
c.203A>C (p.Tyr68Ser)
c.309A>C
 gnomAD v4
11g.71437822T=CA1981488006DHCR7c.953A= (p.Tyr318=)
c.779A= (p.Tyr260=)
c.1004A= (p.Tyr335=)
c.989A= (p.Tyr330=)
n.993A=
c.368A= (p.Tyr123=)
c.857A= (p.Tyr286=)
c.320A= (p.Tyr107=)
c.203A= (p.Tyr68=)
c.309A=
11g.71437822_71437823delCA912973038DHCR7c.952_953del (p.Tyr318HisfsTer?)
c.778_779del (p.Tyr260HisfsTer?)
c.1003_1004del (p.Tyr335HisfsTer?)
c.952_953del (p.Tyr318HisfsTer21)
c.988_989del (p.Tyr330HisfsTer?)
n.992_993del
c.367_368del (p.Tyr123HisfsTer?)
c.856_857del (p.Tyr286HisfsTer?)
c.319_320del (p.Tyr107HisfsTer?)
c.202_203del (p.Tyr68HisfsTer?)
c.308_309del
11g.71437822_71437823delinsTACA1981488007DHCR7c.952_953delinsTA (p.Tyr318=)
c.778_779delinsTA (p.Tyr260=)
c.1003_1004delinsTA (p.Tyr335=)
c.988_989delinsTA (p.Tyr330=)
n.992_993delinsTA
c.367_368delinsTA (p.Tyr123=)
c.856_857delinsTA (p.Tyr286=)
c.319_320delinsTA (p.Tyr107=)
c.202_203delinsTA (p.Tyr68=)
c.308_309delinsTA
11g.71437823A=CA1981488008DHCR7c.952T= (p.Tyr318=)
c.778T= (p.Tyr260=)
c.1003T= (p.Tyr335=)
c.988T= (p.Tyr330=)
n.992T=
c.367T= (p.Tyr123=)
c.856T= (p.Tyr286=)
c.319T= (p.Tyr107=)
c.202T= (p.Tyr68=)
c.308T=
11g.71437823A>CCA381702897DHCR7c.952T>G (p.Tyr318Asp)
c.778T>G (p.Tyr260Asp)
c.1003T>G (p.Tyr335Asp)
c.988T>G (p.Tyr330Asp)
n.992T>G
c.367T>G (p.Tyr123Asp)
c.856T>G (p.Tyr286Asp)
c.319T>G (p.Tyr107Asp)
c.202T>G (p.Tyr68Asp)
c.308T>G
11g.71437823A>GCA381702898DHCR7c.952T>C (p.Tyr318His)
c.778T>C (p.Tyr260His)
c.1003T>C (p.Tyr335His)
c.988T>C (p.Tyr330His)
n.992T>C
c.367T>C (p.Tyr123His)
c.856T>C (p.Tyr286His)
c.319T>C (p.Tyr107His)
c.202T>C (p.Tyr68His)
c.308T>C
 ClinVar dbSNP gnomAD v4
11g.71437823A>TCA381702899DHCR7c.952T>A (p.Tyr318Asn)
c.778T>A (p.Tyr260Asn)
c.1003T>A (p.Tyr335Asn)
c.988T>A (p.Tyr330Asn)
n.992T>A
c.367T>A (p.Tyr123Asn)
c.856T>A (p.Tyr286Asn)
c.319T>A (p.Tyr107Asn)
c.202T>A (p.Tyr68Asn)
c.308T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71437825delCA658823154DHCR7c.952del (p.Tyr318ThrfsTer?)
c.778del (p.Tyr260ThrfsTer?)
c.1003del (p.Tyr335ThrfsTer?)
c.952del (p.Tyr318ThrfsTer5)
c.988del (p.Tyr330ThrfsTer?)
n.992del
c.367del (p.Tyr123ThrfsTer?)
c.856del (p.Tyr286ThrfsTer?)
c.319del (p.Tyr107ThrfsTer20)
c.202del (p.Tyr68ThrfsTer?)
c.308del
c.952del (p.Tyr318ThrfsTer20)
 ClinVar dbSNP
11g.71437824A>CCA475567160DHCR7c.951T>G (p.Leu317=)
c.777T>G (p.Leu259=)
c.1002T>G (p.Leu334=)
c.987T>G (p.Leu329=)
n.991T>G
c.366T>G (p.Leu122=)
c.855T>G (p.Leu285=)
c.318T>G (p.Leu106=)
c.201T>G (p.Leu67=)
c.307T>G
11g.71437824A>GCA475567163DHCR7c.951T>C (p.Leu317=)
c.777T>C (p.Leu259=)
c.1002T>C (p.Leu334=)
c.987T>C (p.Leu329=)
n.991T>C
c.366T>C (p.Leu122=)
c.855T>C (p.Leu285=)
c.318T>C (p.Leu106=)
c.201T>C (p.Leu67=)
c.307T>C
11g.71437824A>TCA475567158DHCR7c.951T>A (p.Leu317=)
c.777T>A (p.Leu259=)
c.1002T>A (p.Leu334=)
c.987T>A (p.Leu329=)
n.991T>A
c.366T>A (p.Leu122=)
c.855T>A (p.Leu285=)
c.318T>A (p.Leu106=)
c.201T>A (p.Leu67=)
c.307T>A
11g.71437825A>CCA381702900DHCR7c.950T>G (p.Leu317Arg)
c.776T>G (p.Leu259Arg)
c.1001T>G (p.Leu334Arg)
c.986T>G (p.Leu329Arg)
n.990T>G
c.365T>G (p.Leu122Arg)
c.854T>G (p.Leu285Arg)
c.317T>G (p.Leu106Arg)
c.200T>G (p.Leu67Arg)
c.306T>G
11g.71437825A>GCA381702901DHCR7c.950T>C (p.Leu317Pro)
c.776T>C (p.Leu259Pro)
c.1001T>C (p.Leu334Pro)
c.986T>C (p.Leu329Pro)
n.990T>C
c.365T>C (p.Leu122Pro)
c.854T>C (p.Leu285Pro)
c.317T>C (p.Leu106Pro)
c.200T>C (p.Leu67Pro)
c.306T>C
11g.71437825A>TCA381702902DHCR7c.950T>A (p.Leu317His)
c.776T>A (p.Leu259His)
c.1001T>A (p.Leu334His)
c.986T>A (p.Leu329His)
n.990T>A
c.365T>A (p.Leu122His)
c.854T>A (p.Leu285His)
c.317T>A (p.Leu106His)
c.200T>A (p.Leu67His)
c.306T>A
11g.71437826delCA2573147610DHCR7c.949del (p.Leu317PhefsTer?)
c.775del (p.Leu259PhefsTer?)
c.1000del (p.Leu334PhefsTer?)
c.949del (p.Leu317PhefsTer6)
c.985del (p.Leu329PhefsTer?)
n.989del
c.364del (p.Leu122PhefsTer?)
c.853del (p.Leu285PhefsTer?)
c.316del (p.Leu106PhefsTer21)
c.199del (p.Leu67PhefsTer?)
c.305del
c.949del (p.Leu317PhefsTer21)
 ClinVar dbSNP
11g.71437826G>ACA381702903DHCR7c.949C>T (p.Leu317Phe)
c.775C>T (p.Leu259Phe)
c.1000C>T (p.Leu334Phe)
c.985C>T (p.Leu329Phe)
n.989C>T
c.364C>T (p.Leu122Phe)
c.853C>T (p.Leu285Phe)
c.316C>T (p.Leu106Phe)
c.199C>T (p.Leu67Phe)
c.305C>T
11g.71437826G>CCA381702905DHCR7c.949C>G (p.Leu317Val)
c.775C>G (p.Leu259Val)
c.1000C>G (p.Leu334Val)
c.985C>G (p.Leu329Val)
n.989C>G
c.364C>G (p.Leu122Val)
c.853C>G (p.Leu285Val)
c.316C>G (p.Leu106Val)
c.199C>G (p.Leu67Val)
c.305C>G
11g.71437826G>TCA381702904DHCR7c.949C>A (p.Leu317Ile)
c.775C>A (p.Leu259Ile)
c.1000C>A (p.Leu334Ile)
c.985C>A (p.Leu329Ile)
n.989C>A
c.364C>A (p.Leu122Ile)
c.853C>A (p.Leu285Ile)
c.316C>A (p.Leu106Ile)
c.199C>A (p.Leu67Ile)
c.305C>A
11g.71437827A>CCA381702906DHCR7c.948T>G (p.Tyr316Ter)
c.774T>G (p.Tyr258Ter)
c.999T>G (p.Tyr333Ter)
c.984T>G (p.Tyr328Ter)
n.988T>G
c.363T>G (p.Tyr121Ter)
c.852T>G (p.Tyr284Ter)
c.315T>G (p.Tyr105Ter)
c.198T>G (p.Tyr66Ter)
c.304T>G
11g.71437827A>GCA475567178DHCR7c.948T>C (p.Tyr316=)
c.774T>C (p.Tyr258=)
c.999T>C (p.Tyr333=)
c.984T>C (p.Tyr328=)
n.988T>C
c.363T>C (p.Tyr121=)
c.852T>C (p.Tyr284=)
c.315T>C (p.Tyr105=)
c.198T>C (p.Tyr66=)
c.304T>C
11g.71437827A>TCA381702907DHCR7c.948T>A (p.Tyr316Ter)
c.774T>A (p.Tyr258Ter)
c.999T>A (p.Tyr333Ter)
c.984T>A (p.Tyr328Ter)
n.988T>A
c.363T>A (p.Tyr121Ter)
c.852T>A (p.Tyr284Ter)
c.315T>A (p.Tyr105Ter)
c.198T>A (p.Tyr66Ter)
c.304T>A
11g.71437828T>ACA381702908DHCR7c.947A>T (p.Tyr316Phe)
c.773A>T (p.Tyr258Phe)
c.998A>T (p.Tyr333Phe)
c.983A>T (p.Tyr328Phe)
n.987A>T
c.362A>T (p.Tyr121Phe)
c.851A>T (p.Tyr284Phe)
c.314A>T (p.Tyr105Phe)
c.197A>T (p.Tyr66Phe)
c.303A>T
11g.71437828T>CCA6162400DHCR7c.947A>G (p.Tyr316Cys)
c.773A>G (p.Tyr258Cys)
c.998A>G (p.Tyr333Cys)
c.983A>G (p.Tyr328Cys)
n.987A>G
c.362A>G (p.Tyr121Cys)
c.851A>G (p.Tyr284Cys)
c.314A>G (p.Tyr105Cys)
c.197A>G (p.Tyr66Cys)
c.303A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437828T>GCA381702909DHCR7c.947A>C (p.Tyr316Ser)
c.773A>C (p.Tyr258Ser)
c.998A>C (p.Tyr333Ser)
c.983A>C (p.Tyr328Ser)
n.987A>C
c.362A>C (p.Tyr121Ser)
c.851A>C (p.Tyr284Ser)
c.314A>C (p.Tyr105Ser)
c.197A>C (p.Tyr66Ser)
c.303A>C
11g.71437828T=CA1981488009DHCR7c.947A= (p.Tyr316=)
c.773A= (p.Tyr258=)
c.998A= (p.Tyr333=)
c.983A= (p.Tyr328=)
n.987A=
c.362A= (p.Tyr121=)
c.851A= (p.Tyr284=)
c.314A= (p.Tyr105=)
c.197A= (p.Tyr66=)
c.303A=
11g.71437829A>CCA381702910DHCR7c.946T>G (p.Tyr316Asp)
c.772T>G (p.Tyr258Asp)
c.997T>G (p.Tyr333Asp)
c.982T>G (p.Tyr328Asp)
n.986T>G
c.361T>G (p.Tyr121Asp)
c.850T>G (p.Tyr284Asp)
c.313T>G (p.Tyr105Asp)
c.196T>G (p.Tyr66Asp)
c.302T>G
11g.71437829A>GCA381702911DHCR7c.946T>C (p.Tyr316His)
c.772T>C (p.Tyr258His)
c.997T>C (p.Tyr333His)
c.982T>C (p.Tyr328His)
n.986T>C
c.361T>C (p.Tyr121His)
c.850T>C (p.Tyr284His)
c.313T>C (p.Tyr105His)
c.196T>C (p.Tyr66His)
c.302T>C
11g.71437829A>TCA381702912DHCR7c.946T>A (p.Tyr316Asn)
c.772T>A (p.Tyr258Asn)
c.997T>A (p.Tyr333Asn)
c.982T>A (p.Tyr328Asn)
n.986T>A
c.361T>A (p.Tyr121Asn)
c.850T>A (p.Tyr284Asn)
c.313T>A (p.Tyr105Asn)
c.196T>A (p.Tyr66Asn)
c.302T>A
11g.71437830A>CCA475567188DHCR7c.945T>G (p.Pro315=)
c.771T>G (p.Pro257=)
c.996T>G (p.Pro332=)
c.981T>G (p.Pro327=)
n.985T>G
c.360T>G (p.Pro120=)
c.849T>G (p.Pro283=)
c.312T>G (p.Pro104=)
c.195T>G (p.Pro65=)
c.301T>G
 gnomAD v4
11g.71437830A>GCA475567191DHCR7c.945T>C (p.Pro315=)
c.771T>C (p.Pro257=)
c.996T>C (p.Pro332=)
c.981T>C (p.Pro327=)
n.985T>C
c.360T>C (p.Pro120=)
c.849T>C (p.Pro283=)
c.312T>C (p.Pro104=)
c.195T>C (p.Pro65=)
c.301T>C
11g.71437830A>TCA475567193DHCR7c.945T>A (p.Pro315=)
c.771T>A (p.Pro257=)
c.996T>A (p.Pro332=)
c.981T>A (p.Pro327=)
n.985T>A
c.360T>A (p.Pro120=)
c.849T>A (p.Pro283=)
c.312T>A (p.Pro104=)
c.195T>A (p.Pro65=)
c.301T>A
11g.71437831G>ACA381702913DHCR7c.944C>T (p.Pro315Leu)
c.770C>T (p.Pro257Leu)
c.995C>T (p.Pro332Leu)
c.980C>T (p.Pro327Leu)
n.984C>T
c.359C>T (p.Pro120Leu)
c.848C>T (p.Pro283Leu)
c.311C>T (p.Pro104Leu)
c.194C>T (p.Pro65Leu)
c.300C>T
 ClinVar dbSNP
11g.71437831G>CCA381702914DHCR7c.944C>G (p.Pro315Arg)
c.770C>G (p.Pro257Arg)
c.995C>G (p.Pro332Arg)
c.980C>G (p.Pro327Arg)
n.984C>G
c.359C>G (p.Pro120Arg)
c.848C>G (p.Pro283Arg)
c.311C>G (p.Pro104Arg)
c.194C>G (p.Pro65Arg)
c.300C>G
11g.71437831G=CA1981488010DHCR7c.944C= (p.Pro315=)
c.770C= (p.Pro257=)
c.995C= (p.Pro332=)
c.980C= (p.Pro327=)
n.984C=
c.359C= (p.Pro120=)
c.848C= (p.Pro283=)
c.311C= (p.Pro104=)
c.194C= (p.Pro65=)
c.300C=
11g.71437831G>TCA381702915DHCR7c.944C>A (p.Pro315His)
c.770C>A (p.Pro257His)
c.995C>A (p.Pro332His)
c.980C>A (p.Pro327His)
n.984C>A
c.359C>A (p.Pro120His)
c.848C>A (p.Pro283His)
c.311C>A (p.Pro104His)
c.194C>A (p.Pro65His)
c.300C>A
11g.71437832G>ACA381702916DHCR7c.943C>T (p.Pro315Ser)
c.769C>T (p.Pro257Ser)
c.994C>T (p.Pro332Ser)
c.979C>T (p.Pro327Ser)
n.983C>T
c.358C>T (p.Pro120Ser)
c.847C>T (p.Pro283Ser)
c.310C>T (p.Pro104Ser)
c.193C>T (p.Pro65Ser)
c.299C>T
11g.71437832G>CCA381702917DHCR7c.943C>G (p.Pro315Ala)
c.769C>G (p.Pro257Ala)
c.994C>G (p.Pro332Ala)
c.979C>G (p.Pro327Ala)
n.983C>G
c.358C>G (p.Pro120Ala)
c.847C>G (p.Pro283Ala)
c.310C>G (p.Pro104Ala)
c.193C>G (p.Pro65Ala)
c.299C>G
11g.71437832G>TCA381702918DHCR7c.943C>A (p.Pro315Thr)
c.769C>A (p.Pro257Thr)
c.994C>A (p.Pro332Thr)
c.979C>A (p.Pro327Thr)
n.983C>A
c.358C>A (p.Pro120Thr)
c.847C>A (p.Pro283Thr)
c.310C>A (p.Pro104Thr)
c.193C>A (p.Pro65Thr)
c.299C>A
 gnomAD v4
11g.71437833C>ACA475567212DHCR7c.942G>T (p.Leu314=)
c.768G>T (p.Leu256=)
c.993G>T (p.Leu331=)
c.978G>T (p.Leu326=)
n.982G>T
c.357G>T (p.Leu119=)
c.846G>T (p.Leu282=)
c.309G>T (p.Leu103=)
c.192G>T (p.Leu64=)
c.298G>T
11g.71437833C=CA1981488011DHCR7c.942G= (p.Leu314=)
c.768G= (p.Leu256=)
c.993G= (p.Leu331=)
c.978G= (p.Leu326=)
n.982G=
c.357G= (p.Leu119=)
c.846G= (p.Leu282=)
c.309G= (p.Leu103=)
c.192G= (p.Leu64=)
c.298G=
11g.71437833C>GCA475567214DHCR7c.942G>C (p.Leu314=)
c.768G>C (p.Leu256=)
c.993G>C (p.Leu331=)
c.978G>C (p.Leu326=)
n.982G>C
c.357G>C (p.Leu119=)
c.846G>C (p.Leu282=)
c.309G>C (p.Leu103=)
c.192G>C (p.Leu64=)
c.298G>C
11g.71437833C>TCA475567217DHCR7c.942G>A (p.Leu314=)
c.768G>A (p.Leu256=)
c.993G>A (p.Leu331=)
c.978G>A (p.Leu326=)
n.982G>A
c.357G>A (p.Leu119=)
c.846G>A (p.Leu282=)
c.309G>A (p.Leu103=)
c.192G>A (p.Leu64=)
c.298G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71437834A>CCA381702919DHCR7c.941T>G (p.Leu314Arg)
c.767T>G (p.Leu256Arg)
c.992T>G (p.Leu331Arg)
c.977T>G (p.Leu326Arg)
n.981T>G
c.356T>G (p.Leu119Arg)
c.845T>G (p.Leu282Arg)
c.308T>G (p.Leu103Arg)
c.191T>G (p.Leu64Arg)
c.297T>G
 gnomAD v4
11g.71437834A>GCA381702920DHCR7c.941T>C (p.Leu314Pro)
c.767T>C (p.Leu256Pro)
c.992T>C (p.Leu331Pro)
c.977T>C (p.Leu326Pro)
n.981T>C
c.356T>C (p.Leu119Pro)
c.845T>C (p.Leu282Pro)
c.308T>C (p.Leu103Pro)
c.191T>C (p.Leu64Pro)
c.297T>C
11g.71437834A>TCA381702921DHCR7c.941T>A (p.Leu314Gln)
c.767T>A (p.Leu256Gln)
c.992T>A (p.Leu331Gln)
c.977T>A (p.Leu326Gln)
n.981T>A
c.356T>A (p.Leu119Gln)
c.845T>A (p.Leu282Gln)
c.308T>A (p.Leu103Gln)
c.191T>A (p.Leu64Gln)
c.297T>A
11g.71437835G>ACA475567228DHCR7c.940C>T (p.Leu314=)
c.766C>T (p.Leu256=)
c.991C>T (p.Leu331=)
c.976C>T (p.Leu326=)
n.980C>T
c.355C>T (p.Leu119=)
c.844C>T (p.Leu282=)
c.307C>T (p.Leu103=)
c.190C>T (p.Leu64=)
c.296C>T
11g.71437835G>CCA381702923DHCR7c.940C>G (p.Leu314Val)
c.766C>G (p.Leu256Val)
c.991C>G (p.Leu331Val)
c.976C>G (p.Leu326Val)
n.980C>G
c.355C>G (p.Leu119Val)
c.844C>G (p.Leu282Val)
c.307C>G (p.Leu103Val)
c.190C>G (p.Leu64Val)
c.296C>G
 gnomAD v4
11g.71437835G>TCA381702922DHCR7c.940C>A (p.Leu314Met)
c.766C>A (p.Leu256Met)
c.991C>A (p.Leu331Met)
c.976C>A (p.Leu326Met)
n.980C>A
c.355C>A (p.Leu119Met)
c.844C>A (p.Leu282Met)
c.307C>A (p.Leu103Met)
c.190C>A (p.Leu64Met)
c.296C>A
11g.71437836C>ACA381702924DHCR7c.939G>T (p.Trp313Cys)
c.765G>T (p.Trp255Cys)
c.990G>T (p.Trp330Cys)
c.975G>T (p.Trp325Cys)
n.979G>T
c.354G>T (p.Trp118Cys)
c.843G>T (p.Trp281Cys)
c.306G>T (p.Trp102Cys)
c.189G>T (p.Trp63Cys)
c.295G>T
11g.71437836C=CA1981488012DHCR7c.939G= (p.Trp313=)
c.765G= (p.Trp255=)
c.990G= (p.Trp330=)
c.975G= (p.Trp325=)
n.979G=
c.354G= (p.Trp118=)
c.843G= (p.Trp281=)
c.306G= (p.Trp102=)
c.189G= (p.Trp63=)
c.295G=
11g.71437836C>GCA381702925DHCR7c.939G>C (p.Trp313Cys)
c.765G>C (p.Trp255Cys)
c.990G>C (p.Trp330Cys)
c.975G>C (p.Trp325Cys)
n.979G>C
c.354G>C (p.Trp118Cys)
c.843G>C (p.Trp281Cys)
c.306G>C (p.Trp102Cys)
c.189G>C (p.Trp63Cys)
c.295G>C
 ClinVar dbSNP gnomAD v4
11g.71437836C>TCA381702926DHCR7c.939G>A (p.Trp313Ter)
c.765G>A (p.Trp255Ter)
c.990G>A (p.Trp330Ter)
c.975G>A (p.Trp325Ter)
n.979G>A
c.354G>A (p.Trp118Ter)
c.843G>A (p.Trp281Ter)
c.306G>A (p.Trp102Ter)
c.189G>A (p.Trp63Ter)
c.295G>A
 ClinVar dbSNP
11g.71437837C>ACA381702927DHCR7c.938G>T (p.Trp313Leu)
c.764G>T (p.Trp255Leu)
c.989G>T (p.Trp330Leu)
c.974G>T (p.Trp325Leu)
n.978G>T
c.353G>T (p.Trp118Leu)
c.842G>T (p.Trp281Leu)
c.305G>T (p.Trp102Leu)
c.188G>T (p.Trp63Leu)
c.294G>T
11g.71437837C>GCA381702928DHCR7c.938G>C (p.Trp313Ser)
c.764G>C (p.Trp255Ser)
c.989G>C (p.Trp330Ser)
c.974G>C (p.Trp325Ser)
n.978G>C
c.353G>C (p.Trp118Ser)
c.842G>C (p.Trp281Ser)
c.305G>C (p.Trp102Ser)
c.188G>C (p.Trp63Ser)
c.294G>C
11g.71437837C>TCA381702929DHCR7c.938G>A (p.Trp313Ter)
c.764G>A (p.Trp255Ter)
c.989G>A (p.Trp330Ter)
c.974G>A (p.Trp325Ter)
n.978G>A
c.353G>A (p.Trp118Ter)
c.842G>A (p.Trp281Ter)
c.305G>A (p.Trp102Ter)
c.188G>A (p.Trp63Ter)
c.294G>A
11g.71437838A>CCA381702930DHCR7c.937T>G (p.Trp313Gly)
c.763T>G (p.Trp255Gly)
c.988T>G (p.Trp330Gly)
c.973T>G (p.Trp325Gly)
n.977T>G
c.352T>G (p.Trp118Gly)
c.841T>G (p.Trp281Gly)
c.304T>G (p.Trp102Gly)
c.187T>G (p.Trp63Gly)
c.293T>G
11g.71437838A>GCA381702931DHCR7c.937T>C (p.Trp313Arg)
c.763T>C (p.Trp255Arg)
c.988T>C (p.Trp330Arg)
c.973T>C (p.Trp325Arg)
n.977T>C
c.352T>C (p.Trp118Arg)
c.841T>C (p.Trp281Arg)
c.304T>C (p.Trp102Arg)
c.187T>C (p.Trp63Arg)
c.293T>C
11g.71437838A>TCA381702932DHCR7c.937T>A (p.Trp313Arg)
c.763T>A (p.Trp255Arg)
c.988T>A (p.Trp330Arg)
c.973T>A (p.Trp325Arg)
n.977T>A
c.352T>A (p.Trp118Arg)
c.841T>A (p.Trp281Arg)
c.304T>A (p.Trp102Arg)
c.187T>A (p.Trp63Arg)
c.293T>A
11g.71437839G>ACA475567251DHCR7c.936C>T (p.Val312=)
c.762C>T (p.Val254=)
c.987C>T (p.Val329=)
c.972C>T (p.Val324=)
n.976C>T
c.351C>T (p.Val117=)
c.840C>T (p.Val280=)
c.303C>T (p.Val101=)
c.186C>T (p.Val62=)
c.292C>T
11g.71437839G>CCA475567260DHCR7c.936C>G (p.Val312=)
c.762C>G (p.Val254=)
c.987C>G (p.Val329=)
c.972C>G (p.Val324=)
n.976C>G
c.351C>G (p.Val117=)
c.840C>G (p.Val280=)
c.303C>G (p.Val101=)
c.186C>G (p.Val62=)
c.292C>G
 ClinVar
11g.71437839G>TCA475567263DHCR7c.936C>A (p.Val312=)
c.762C>A (p.Val254=)
c.987C>A (p.Val329=)
c.972C>A (p.Val324=)
n.976C>A
c.351C>A (p.Val117=)
c.840C>A (p.Val280=)
c.303C>A (p.Val101=)
c.186C>A (p.Val62=)
c.292C>A
11g.71437839_71437841delCA912973039DHCR7c.934_936del (p.Val312del)
c.760_762del (p.Val254del)
c.985_987del (p.Val329del)
c.970_972del (p.Val324del)
n.974_976del
c.349_351del (p.Val117del)
c.838_840del (p.Val280del)
c.301_303del (p.Val101del)
c.184_186del (p.Val62del)
c.290_292del
11g.71437839_71437841delinsGACCA1981488013DHCR7c.934_936delinsGTC (p.Val312=)
c.760_762delinsGTC (p.Val254=)
c.985_987delinsGTC (p.Val329=)
c.970_972delinsGTC (p.Val324=)
n.974_976delinsGTC
c.349_351delinsGTC (p.Val117=)
c.838_840delinsGTC (p.Val280=)
c.301_303delinsGTC (p.Val101=)
c.184_186delinsGTC (p.Val62=)
c.290_292delinsGTC
11g.71437840A>CCA381702933DHCR7c.935T>G (p.Val312Gly)
c.761T>G (p.Val254Gly)
c.986T>G (p.Val329Gly)
c.971T>G (p.Val324Gly)
n.975T>G
c.350T>G (p.Val117Gly)
c.839T>G (p.Val280Gly)
c.302T>G (p.Val101Gly)
c.185T>G (p.Val62Gly)
c.291T>G
11g.71437840A>GCA381702934DHCR7c.935T>C (p.Val312Ala)
c.761T>C (p.Val254Ala)
c.986T>C (p.Val329Ala)
c.971T>C (p.Val324Ala)
n.975T>C
c.350T>C (p.Val117Ala)
c.839T>C (p.Val280Ala)
c.302T>C (p.Val101Ala)
c.185T>C (p.Val62Ala)
c.291T>C
11g.71437840A>TCA381702935DHCR7c.935T>A (p.Val312Asp)
c.761T>A (p.Val254Asp)
c.986T>A (p.Val329Asp)
c.971T>A (p.Val324Asp)
n.975T>A
c.350T>A (p.Val117Asp)
c.839T>A (p.Val280Asp)
c.302T>A (p.Val101Asp)
c.185T>A (p.Val62Asp)
c.291T>A
11g.71437843_71437844delCA658823155DHCR7c.934_935del (p.Val312LeufsTer?)
c.760_761del (p.Val254LeufsTer?)
c.985_986del (p.Val329LeufsTer?)
c.934_935del (p.Val312LeufsTer27)
c.970_971del (p.Val324LeufsTer?)
n.974_975del
c.349_350del (p.Val117LeufsTer?)
c.838_839del (p.Val280LeufsTer?)
c.301_302del (p.Val101LeufsTer?)
c.184_185del (p.Val62LeufsTer?)
c.290_291del
 ClinVar dbSNP
11g.71437841C>ACA381702938DHCR7c.934G>T (p.Val312Phe)
c.760G>T (p.Val254Phe)
c.985G>T (p.Val329Phe)
c.970G>T (p.Val324Phe)
n.974G>T
c.349G>T (p.Val117Phe)
c.838G>T (p.Val280Phe)
c.301G>T (p.Val101Phe)
c.184G>T (p.Val62Phe)
c.290G>T
11g.71437841C>GCA381702937DHCR7c.934G>C (p.Val312Leu)
c.760G>C (p.Val254Leu)
c.985G>C (p.Val329Leu)
c.970G>C (p.Val324Leu)
n.974G>C
c.349G>C (p.Val117Leu)
c.838G>C (p.Val280Leu)
c.301G>C (p.Val101Leu)
c.184G>C (p.Val62Leu)
c.290G>C
11g.71437841C>TCA381702936DHCR7c.934G>A (p.Val312Ile)
c.760G>A (p.Val254Ile)
c.985G>A (p.Val329Ile)
c.970G>A (p.Val324Ile)
n.974G>A
c.349G>A (p.Val117Ile)
c.838G>A (p.Val280Ile)
c.301G>A (p.Val101Ile)
c.184G>A (p.Val62Ile)
c.290G>A
 gnomAD v4
11g.71437842A>CCA381702939DHCR7c.933T>G (p.Cys311Trp)
c.759T>G (p.Cys253Trp)
c.984T>G (p.Cys328Trp)
c.969T>G (p.Cys323Trp)
n.973T>G
c.348T>G (p.Cys116Trp)
c.837T>G (p.Cys279Trp)
c.300T>G (p.Cys100Trp)
c.183T>G (p.Cys61Trp)
c.289T>G
11g.71437842A>GCA475567279DHCR7c.933T>C (p.Cys311=)
c.759T>C (p.Cys253=)
c.984T>C (p.Cys328=)
c.969T>C (p.Cys323=)
n.973T>C
c.348T>C (p.Cys116=)
c.837T>C (p.Cys279=)
c.300T>C (p.Cys100=)
c.183T>C (p.Cys61=)
c.289T>C
11g.71437842A>TCA381702940DHCR7c.933T>A (p.Cys311Ter)
c.759T>A (p.Cys253Ter)
c.984T>A (p.Cys328Ter)
c.969T>A (p.Cys323Ter)
n.973T>A
c.348T>A (p.Cys116Ter)
c.837T>A (p.Cys279Ter)
c.300T>A (p.Cys100Ter)
c.183T>A (p.Cys61Ter)
c.289T>A
11g.71437843C>ACA381702941DHCR7c.932G>T (p.Cys311Phe)
c.758G>T (p.Cys253Phe)
c.983G>T (p.Cys328Phe)
c.968G>T (p.Cys323Phe)
n.972G>T
c.347G>T (p.Cys116Phe)
c.836G>T (p.Cys279Phe)
c.299G>T (p.Cys100Phe)
c.182G>T (p.Cys61Phe)
c.288G>T
11g.71437843C=CA1981488014DHCR7c.932G= (p.Cys311=)
c.758G= (p.Cys253=)
c.983G= (p.Cys328=)
c.968G= (p.Cys323=)
n.972G=
c.347G= (p.Cys116=)
c.836G= (p.Cys279=)
c.299G= (p.Cys100=)
c.182G= (p.Cys61=)
c.288G=
11g.71437843C>GCA381702942DHCR7c.932G>C (p.Cys311Ser)
c.758G>C (p.Cys253Ser)
c.983G>C (p.Cys328Ser)
c.968G>C (p.Cys323Ser)
n.972G>C
c.347G>C (p.Cys116Ser)
c.836G>C (p.Cys279Ser)
c.299G>C (p.Cys100Ser)
c.182G>C (p.Cys61Ser)
c.288G>C
 gnomAD v4
11g.71437843C>TCA381702943DHCR7c.932G>A (p.Cys311Tyr)
c.758G>A (p.Cys253Tyr)
c.983G>A (p.Cys328Tyr)
c.968G>A (p.Cys323Tyr)
n.972G>A
c.347G>A (p.Cys116Tyr)
c.836G>A (p.Cys279Tyr)
c.299G>A (p.Cys100Tyr)
c.182G>A (p.Cys61Tyr)
c.288G>A
 dbSNP gnomAD v4
11g.71437844A=CA1981488015DHCR7c.931T= (p.Cys311=)
c.757T= (p.Cys253=)
c.982T= (p.Cys328=)
c.967T= (p.Cys323=)
n.971T=
c.346T= (p.Cys116=)
c.835T= (p.Cys279=)
c.298T= (p.Cys100=)
c.181T= (p.Cys61=)
c.287T=
11g.71437844A>CCA381702944DHCR7c.931T>G (p.Cys311Gly)
c.757T>G (p.Cys253Gly)
c.982T>G (p.Cys328Gly)
c.967T>G (p.Cys323Gly)
n.971T>G
c.346T>G (p.Cys116Gly)
c.835T>G (p.Cys279Gly)
c.298T>G (p.Cys100Gly)
c.181T>G (p.Cys61Gly)
c.287T>G
11g.71437844A>GCA381702945DHCR7c.931T>C (p.Cys311Arg)
c.757T>C (p.Cys253Arg)
c.982T>C (p.Cys328Arg)
c.967T>C (p.Cys323Arg)
n.971T>C
c.346T>C (p.Cys116Arg)
c.835T>C (p.Cys279Arg)
c.298T>C (p.Cys100Arg)
c.181T>C (p.Cys61Arg)
c.287T>C
 ClinVar dbSNP
11g.71437844A>TCA381702946DHCR7c.931T>A (p.Cys311Ser)
c.757T>A (p.Cys253Ser)
c.982T>A (p.Cys328Ser)
c.967T>A (p.Cys323Ser)
n.971T>A
c.346T>A (p.Cys116Ser)
c.835T>A (p.Cys279Ser)
c.298T>A (p.Cys100Ser)
c.181T>A (p.Cys61Ser)
c.287T>A
11g.71437845G>ACA475567294DHCR7c.930C>T (p.Asp310=)
c.756C>T (p.Asp252=)
c.981C>T (p.Asp327=)
c.966C>T (p.Asp322=)
n.970C>T
c.345C>T (p.Asp115=)
c.834C>T (p.Asp278=)
c.297C>T (p.Asp99=)
c.180C>T (p.Asp60=)
c.286C>T
 ClinVar
11g.71437845G>CCA381702947DHCR7c.930C>G (p.Asp310Glu)
c.756C>G (p.Asp252Glu)
c.981C>G (p.Asp327Glu)
c.966C>G (p.Asp322Glu)
n.970C>G
c.345C>G (p.Asp115Glu)
c.834C>G (p.Asp278Glu)
c.297C>G (p.Asp99Glu)
c.180C>G (p.Asp60Glu)
c.286C>G
11g.71437845G>TCA381702948DHCR7c.930C>A (p.Asp310Glu)
c.756C>A (p.Asp252Glu)
c.981C>A (p.Asp327Glu)
c.966C>A (p.Asp322Glu)
n.970C>A
c.345C>A (p.Asp115Glu)
c.834C>A (p.Asp278Glu)
c.297C>A (p.Asp99Glu)
c.180C>A (p.Asp60Glu)
c.286C>A
11g.71437846T>ACA381702949DHCR7c.929A>T (p.Asp310Val)
c.755A>T (p.Asp252Val)
c.980A>T (p.Asp327Val)
c.965A>T (p.Asp322Val)
n.969A>T
c.344A>T (p.Asp115Val)
c.833A>T (p.Asp278Val)
c.296A>T (p.Asp99Val)
c.179A>T (p.Asp60Val)
c.285A>T
11g.71437846T>CCA381702950DHCR7c.929A>G (p.Asp310Gly)
c.755A>G (p.Asp252Gly)
c.980A>G (p.Asp327Gly)
c.965A>G (p.Asp322Gly)
n.969A>G
c.344A>G (p.Asp115Gly)
c.833A>G (p.Asp278Gly)
c.296A>G (p.Asp99Gly)
c.179A>G (p.Asp60Gly)
c.285A>G
11g.71437846T>GCA381702951DHCR7c.929A>C (p.Asp310Ala)
c.755A>C (p.Asp252Ala)
c.980A>C (p.Asp327Ala)
c.965A>C (p.Asp322Ala)
n.969A>C
c.344A>C (p.Asp115Ala)
c.833A>C (p.Asp278Ala)
c.296A>C (p.Asp99Ala)
c.179A>C (p.Asp60Ala)
c.285A>C
 dbSNP gnomAD v4
11g.71437846T=CA1981488016DHCR7c.929A= (p.Asp310=)
c.755A= (p.Asp252=)
c.980A= (p.Asp327=)
c.965A= (p.Asp322=)
n.969A=
c.344A= (p.Asp115=)
c.833A= (p.Asp278=)
c.296A= (p.Asp99=)
c.179A= (p.Asp60=)
c.285A=
11g.71437847C>ACA381702953DHCR7c.928G>T (p.Asp310Tyr)
c.754G>T (p.Asp252Tyr)
c.979G>T (p.Asp327Tyr)
c.964G>T (p.Asp322Tyr)
n.968G>T
c.343G>T (p.Asp115Tyr)
c.832G>T (p.Asp278Tyr)
c.295G>T (p.Asp99Tyr)
c.178G>T (p.Asp60Tyr)
c.284G>T
11g.71437847C=CA1981488017DHCR7c.928G= (p.Asp310=)
c.754G= (p.Asp252=)
c.979G= (p.Asp327=)
c.964G= (p.Asp322=)
n.968G=
c.343G= (p.Asp115=)
c.832G= (p.Asp278=)
c.295G= (p.Asp99=)
c.178G= (p.Asp60=)
c.284G=
11g.71437847C>GCA381702952DHCR7c.928G>C (p.Asp310His)
c.754G>C (p.Asp252His)
c.979G>C (p.Asp327His)
c.964G>C (p.Asp322His)
n.968G>C
c.343G>C (p.Asp115His)
c.832G>C (p.Asp278His)
c.295G>C (p.Asp99His)
c.178G>C (p.Asp60His)
c.284G>C
 ClinVar dbSNP
11g.71437847C>TCA6162401DHCR7c.928G>A (p.Asp310Asn)
c.754G>A (p.Asp252Asn)
c.979G>A (p.Asp327Asn)
c.964G>A (p.Asp322Asn)
n.968G>A
c.343G>A (p.Asp115Asn)
c.832G>A (p.Asp278Asn)
c.295G>A (p.Asp99Asn)
c.178G>A (p.Asp60Asn)
c.284G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437848G>ACA6162403DHCR7c.927C>T (p.Gly309=)
c.753C>T (p.Gly251=)
c.978C>T (p.Gly326=)
c.963C>T (p.Gly321=)
n.967C>T
c.342C>T (p.Gly114=)
c.831C>T (p.Gly277=)
c.294C>T (p.Gly98=)
c.177C>T (p.Gly59=)
c.283C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.71437848G>CCA475567316DHCR7c.927C>G (p.Gly309=)
c.753C>G (p.Gly251=)
c.978C>G (p.Gly326=)
c.963C>G (p.Gly321=)
n.967C>G
c.342C>G (p.Gly114=)
c.831C>G (p.Gly277=)
c.294C>G (p.Gly98=)
c.177C>G (p.Gly59=)
c.283C>G
11g.71437848G=CA1981488018DHCR7c.927C= (p.Gly309=)
c.753C= (p.Gly251=)
c.978C= (p.Gly326=)
c.963C= (p.Gly321=)
n.967C=
c.342C= (p.Gly114=)
c.831C= (p.Gly277=)
c.294C= (p.Gly98=)
c.177C= (p.Gly59=)
c.283C=
11g.71437848G>TCA6162402DHCR7c.927C>A (p.Gly309=)
c.753C>A (p.Gly251=)
c.978C>A (p.Gly326=)
c.963C>A (p.Gly321=)
n.967C>A
c.342C>A (p.Gly114=)
c.831C>A (p.Gly277=)
c.294C>A (p.Gly98=)
c.177C>A (p.Gly59=)
c.283C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437849C>ACA381702954DHCR7c.926G>T (p.Gly309Val)
c.752G>T (p.Gly251Val)
c.977G>T (p.Gly326Val)
c.962G>T (p.Gly321Val)
n.966G>T
c.341G>T (p.Gly114Val)
c.830G>T (p.Gly277Val)
c.293G>T (p.Gly98Val)
c.176G>T (p.Gly59Val)
c.282G>T
 dbSNP gnomAD v4
11g.71437849C=CA1981488019DHCR7c.926G= (p.Gly309=)
c.752G= (p.Gly251=)
c.977G= (p.Gly326=)
c.962G= (p.Gly321=)
n.966G=
c.341G= (p.Gly114=)
c.830G= (p.Gly277=)
c.293G= (p.Gly98=)
c.176G= (p.Gly59=)
c.282G=
11g.71437849C>GCA381702955DHCR7c.926G>C (p.Gly309Ala)
c.752G>C (p.Gly251Ala)
c.977G>C (p.Gly326Ala)
c.962G>C (p.Gly321Ala)
n.966G>C
c.341G>C (p.Gly114Ala)
c.830G>C (p.Gly277Ala)
c.293G>C (p.Gly98Ala)
c.176G>C (p.Gly59Ala)
c.282G>C
11g.71437849C>TCA381702956DHCR7c.926G>A (p.Gly309Asp)
c.752G>A (p.Gly251Asp)
c.977G>A (p.Gly326Asp)
c.962G>A (p.Gly321Asp)
n.966G>A
c.341G>A (p.Gly114Asp)
c.830G>A (p.Gly277Asp)
c.293G>A (p.Gly98Asp)
c.176G>A (p.Gly59Asp)
c.282G>A
 ClinVar
11g.71437850C>ACA381702957DHCR7c.925G>T (p.Gly309Cys)
c.751G>T (p.Gly251Cys)
c.976G>T (p.Gly326Cys)
c.961G>T (p.Gly321Cys)
n.965G>T
c.340G>T (p.Gly114Cys)
c.829G>T (p.Gly277Cys)
c.292G>T (p.Gly98Cys)
c.175G>T (p.Gly59Cys)
c.281G>T
11g.71437850C>GCA381702958DHCR7c.925G>C (p.Gly309Arg)
c.751G>C (p.Gly251Arg)
c.976G>C (p.Gly326Arg)
c.961G>C (p.Gly321Arg)
n.965G>C
c.340G>C (p.Gly114Arg)
c.829G>C (p.Gly277Arg)
c.292G>C (p.Gly98Arg)
c.175G>C (p.Gly59Arg)
c.281G>C
11g.71437850C>TCA381702959DHCR7c.925G>A (p.Gly309Ser)
c.751G>A (p.Gly251Ser)
c.976G>A (p.Gly326Ser)
c.961G>A (p.Gly321Ser)
n.965G>A
c.340G>A (p.Gly114Ser)
c.829G>A (p.Gly277Ser)
c.292G>A (p.Gly98Ser)
c.175G>A (p.Gly59Ser)
c.281G>A
 ClinVar dbSNP
11g.71437851C>ACA381702960DHCR7c.924G>T (p.Trp308Cys)
c.750G>T (p.Trp250Cys)
c.975G>T (p.Trp325Cys)
c.960G>T (p.Trp320Cys)
n.964G>T
c.339G>T (p.Trp113Cys)
c.828G>T (p.Trp276Cys)
c.291G>T (p.Trp97Cys)
c.174G>T (p.Trp58Cys)
c.280G>T
11g.71437851C=CA1981488020DHCR7c.924G= (p.Trp308=)
c.750G= (p.Trp250=)
c.975G= (p.Trp325=)
c.960G= (p.Trp320=)
n.964G=
c.339G= (p.Trp113=)
c.828G= (p.Trp276=)
c.291G= (p.Trp97=)
c.174G= (p.Trp58=)
c.280G=
11g.71437851C>GCA381702961DHCR7c.924G>C (p.Trp308Cys)
c.750G>C (p.Trp250Cys)
c.975G>C (p.Trp325Cys)
c.960G>C (p.Trp320Cys)
n.964G>C
c.339G>C (p.Trp113Cys)
c.828G>C (p.Trp276Cys)
c.291G>C (p.Trp97Cys)
c.174G>C (p.Trp58Cys)
c.280G>C
11g.71437851C>TCA381702962DHCR7c.924G>A (p.Trp308Ter)
c.750G>A (p.Trp250Ter)
c.975G>A (p.Trp325Ter)
c.960G>A (p.Trp320Ter)
n.964G>A
c.339G>A (p.Trp113Ter)
c.828G>A (p.Trp276Ter)
c.291G>A (p.Trp97Ter)
c.174G>A (p.Trp58Ter)
c.280G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71437852C>ACA381702965DHCR7c.923G>T (p.Trp308Leu)
c.749G>T (p.Trp250Leu)
c.974G>T (p.Trp325Leu)
c.959G>T (p.Trp320Leu)
n.963G>T
c.338G>T (p.Trp113Leu)
c.827G>T (p.Trp276Leu)
c.290G>T (p.Trp97Leu)
c.173G>T (p.Trp58Leu)
c.279G>T
 gnomAD v4
11g.71437852C>GCA381702964DHCR7c.923G>C (p.Trp308Ser)
c.749G>C (p.Trp250Ser)
c.974G>C (p.Trp325Ser)
c.959G>C (p.Trp320Ser)
n.963G>C
c.338G>C (p.Trp113Ser)
c.827G>C (p.Trp276Ser)
c.290G>C (p.Trp97Ser)
c.173G>C (p.Trp58Ser)
c.279G>C
11g.71437852C>TCA381702963DHCR7c.923G>A (p.Trp308Ter)
c.749G>A (p.Trp250Ter)
c.974G>A (p.Trp325Ter)
c.959G>A (p.Trp320Ter)
n.963G>A
c.338G>A (p.Trp113Ter)
c.827G>A (p.Trp276Ter)
c.290G>A (p.Trp97Ter)
c.173G>A (p.Trp58Ter)
c.279G>A
 gnomAD v4
11g.71437853A>CCA381702966DHCR7c.922T>G (p.Trp308Gly)
c.748T>G (p.Trp250Gly)
c.973T>G (p.Trp325Gly)
c.958T>G (p.Trp320Gly)
n.962T>G
c.337T>G (p.Trp113Gly)
c.826T>G (p.Trp276Gly)
c.289T>G (p.Trp97Gly)
c.172T>G (p.Trp58Gly)
c.278T>G
11g.71437853A>GCA381702968DHCR7c.922T>C (p.Trp308Arg)
c.748T>C (p.Trp250Arg)
c.973T>C (p.Trp325Arg)
c.958T>C (p.Trp320Arg)
n.962T>C
c.337T>C (p.Trp113Arg)
c.826T>C (p.Trp276Arg)
c.289T>C (p.Trp97Arg)
c.172T>C (p.Trp58Arg)
c.278T>C
11g.71437853A>TCA381702967DHCR7c.922T>A (p.Trp308Arg)
c.748T>A (p.Trp250Arg)
c.973T>A (p.Trp325Arg)
c.958T>A (p.Trp320Arg)
n.962T>A
c.337T>A (p.Trp113Arg)
c.826T>A (p.Trp276Arg)
c.289T>A (p.Trp97Arg)
c.172T>A (p.Trp58Arg)
c.278T>A
11g.71437854G>ACA475567358DHCR7c.921C>T (p.Gly307=)
c.747C>T (p.Gly249=)
c.972C>T (p.Gly324=)
c.957C>T (p.Gly319=)
n.961C>T
c.336C>T (p.Gly112=)
c.825C>T (p.Gly275=)
c.288C>T (p.Gly96=)
c.171C>T (p.Gly57=)
c.277C>T
 ClinVar
11g.71437854G>CCA475567361DHCR7c.921C>G (p.Gly307=)
c.747C>G (p.Gly249=)
c.972C>G (p.Gly324=)
c.957C>G (p.Gly319=)
n.961C>G
c.336C>G (p.Gly112=)
c.825C>G (p.Gly275=)
c.288C>G (p.Gly96=)
c.171C>G (p.Gly57=)
c.277C>G
11g.71437854G>TCA475567364DHCR7c.921C>A (p.Gly307=)
c.747C>A (p.Gly249=)
c.972C>A (p.Gly324=)
c.957C>A (p.Gly319=)
n.961C>A
c.336C>A (p.Gly112=)
c.825C>A (p.Gly275=)
c.288C>A (p.Gly96=)
c.171C>A (p.Gly57=)
c.277C>A
11g.71437855C>ACA381702969DHCR7c.920G>T (p.Gly307Val)
c.746G>T (p.Gly249Val)
c.971G>T (p.Gly324Val)
c.956G>T (p.Gly319Val)
n.960G>T
c.335G>T (p.Gly112Val)
c.824G>T (p.Gly275Val)
c.287G>T (p.Gly96Val)
c.170G>T (p.Gly57Val)
c.276G>T
11g.71437855C>GCA381702970DHCR7c.920G>C (p.Gly307Ala)
c.746G>C (p.Gly249Ala)
c.971G>C (p.Gly324Ala)
c.956G>C (p.Gly319Ala)
n.960G>C
c.335G>C (p.Gly112Ala)
c.824G>C (p.Gly275Ala)
c.287G>C (p.Gly96Ala)
c.170G>C (p.Gly57Ala)
c.276G>C
11g.71437855C>TCA381702971DHCR7c.920G>A (p.Gly307Asp)
c.746G>A (p.Gly249Asp)
c.971G>A (p.Gly324Asp)
c.956G>A (p.Gly319Asp)
n.960G>A
c.335G>A (p.Gly112Asp)
c.824G>A (p.Gly275Asp)
c.287G>A (p.Gly96Asp)
c.170G>A (p.Gly57Asp)
c.276G>A
 gnomAD v4
11g.71437856C>ACA381702972DHCR7c.919G>T (p.Gly307Cys)
c.745G>T (p.Gly249Cys)
c.970G>T (p.Gly324Cys)
c.955G>T (p.Gly319Cys)
n.959G>T
c.334G>T (p.Gly112Cys)
c.823G>T (p.Gly275Cys)
c.286G>T (p.Gly96Cys)
c.169G>T (p.Gly57Cys)
c.275G>T
 gnomAD v4
11g.71437856C>GCA381702973DHCR7c.919G>C (p.Gly307Arg)
c.745G>C (p.Gly249Arg)
c.970G>C (p.Gly324Arg)
c.955G>C (p.Gly319Arg)
n.959G>C
c.334G>C (p.Gly112Arg)
c.823G>C (p.Gly275Arg)
c.286G>C (p.Gly96Arg)
c.169G>C (p.Gly57Arg)
c.275G>C
11g.71437856C>TCA381702974DHCR7c.919G>A (p.Gly307Ser)
c.745G>A (p.Gly249Ser)
c.970G>A (p.Gly324Ser)
c.955G>A (p.Gly319Ser)
n.959G>A
c.334G>A (p.Gly112Ser)
c.823G>A (p.Gly275Ser)
c.286G>A (p.Gly96Ser)
c.169G>A (p.Gly57Ser)
c.275G>A
11g.71437857C>ACA475567384DHCR7c.918G>T (p.Leu306=)
c.744G>T (p.Leu248=)
c.969G>T (p.Leu323=)
c.954G>T (p.Leu318=)
n.958G>T
c.333G>T (p.Leu111=)
c.822G>T (p.Leu274=)
c.285G>T (p.Leu95=)
c.168G>T (p.Leu56=)
c.274G>T
11g.71437857C>GCA475567390DHCR7c.918G>C (p.Leu306=)
c.744G>C (p.Leu248=)
c.969G>C (p.Leu323=)
c.954G>C (p.Leu318=)
n.958G>C
c.333G>C (p.Leu111=)
c.822G>C (p.Leu274=)
c.285G>C (p.Leu95=)
c.168G>C (p.Leu56=)
c.274G>C
 gnomAD v4
11g.71437857C>TCA475567387DHCR7c.918G>A (p.Leu306=)
c.744G>A (p.Leu248=)
c.969G>A (p.Leu323=)
c.954G>A (p.Leu318=)
n.958G>A
c.333G>A (p.Leu111=)
c.822G>A (p.Leu274=)
c.285G>A (p.Leu95=)
c.168G>A (p.Leu56=)
c.274G>A
11g.71437858A>CCA381702975DHCR7c.917T>G (p.Leu306Arg)
c.743T>G (p.Leu248Arg)
c.968T>G (p.Leu323Arg)
c.953T>G (p.Leu318Arg)
n.957T>G
c.332T>G (p.Leu111Arg)
c.821T>G (p.Leu274Arg)
c.284T>G (p.Leu95Arg)
c.167T>G (p.Leu56Arg)
c.273T>G
11g.71437858A>GCA381702976DHCR7c.917T>C (p.Leu306Pro)
c.743T>C (p.Leu248Pro)
c.968T>C (p.Leu323Pro)
c.953T>C (p.Leu318Pro)
n.957T>C
c.332T>C (p.Leu111Pro)
c.821T>C (p.Leu274Pro)
c.284T>C (p.Leu95Pro)
c.167T>C (p.Leu56Pro)
c.273T>C
11g.71437858A>TCA381702977DHCR7c.917T>A (p.Leu306Gln)
c.743T>A (p.Leu248Gln)
c.968T>A (p.Leu323Gln)
c.953T>A (p.Leu318Gln)
n.957T>A
c.332T>A (p.Leu111Gln)
c.821T>A (p.Leu274Gln)
c.284T>A (p.Leu95Gln)
c.167T>A (p.Leu56Gln)
c.273T>A
11g.71437859G>ACA475567396DHCR7c.916C>T (p.Leu306=)
c.742C>T (p.Leu248=)
c.967C>T (p.Leu323=)
c.952C>T (p.Leu318=)
n.956C>T
c.331C>T (p.Leu111=)
c.820C>T (p.Leu274=)
c.283C>T (p.Leu95=)
c.166C>T (p.Leu56=)
c.272C>T
11g.71437859G>CCA381702978DHCR7c.916C>G (p.Leu306Val)
c.742C>G (p.Leu248Val)
c.967C>G (p.Leu323Val)
c.952C>G (p.Leu318Val)
n.956C>G
c.331C>G (p.Leu111Val)
c.820C>G (p.Leu274Val)
c.283C>G (p.Leu95Val)
c.166C>G (p.Leu56Val)
c.272C>G
11g.71437859G>TCA381702979DHCR7c.916C>A (p.Leu306Met)
c.742C>A (p.Leu248Met)
c.967C>A (p.Leu323Met)
c.952C>A (p.Leu318Met)
n.956C>A
c.331C>A (p.Leu111Met)
c.820C>A (p.Leu274Met)
c.283C>A (p.Leu95Met)
c.166C>A (p.Leu56Met)
c.272C>A
11g.71437860G>ACA475567403DHCR7c.915C>T (p.Tyr305=)
c.741C>T (p.Tyr247=)
c.966C>T (p.Tyr322=)
c.951C>T (p.Tyr317=)
n.955C>T
c.330C>T (p.Tyr110=)
c.819C>T (p.Tyr273=)
c.282C>T (p.Tyr94=)
c.165C>T (p.Tyr55=)
c.271C>T
 ClinVar dbSNP gnomAD v4
11g.71437860G>CCA381702981DHCR7c.915C>G (p.Tyr305Ter)
c.741C>G (p.Tyr247Ter)
c.966C>G (p.Tyr322Ter)
c.951C>G (p.Tyr317Ter)
n.955C>G
c.330C>G (p.Tyr110Ter)
c.819C>G (p.Tyr273Ter)
c.282C>G (p.Tyr94Ter)
c.165C>G (p.Tyr55Ter)
c.271C>G
 ClinVar dbSNP
11g.71437860G=CA1981488021DHCR7c.915C= (p.Tyr305=)
c.741C= (p.Tyr247=)
c.966C= (p.Tyr322=)
c.951C= (p.Tyr317=)
n.955C=
c.330C= (p.Tyr110=)
c.819C= (p.Tyr273=)
c.282C= (p.Tyr94=)
c.165C= (p.Tyr55=)
c.271C=
11g.71437860G>TCA381702980DHCR7c.915C>A (p.Tyr305Ter)
c.741C>A (p.Tyr247Ter)
c.966C>A (p.Tyr322Ter)
c.951C>A (p.Tyr317Ter)
n.955C>A
c.330C>A (p.Tyr110Ter)
c.819C>A (p.Tyr273Ter)
c.282C>A (p.Tyr94Ter)
c.165C>A (p.Tyr55Ter)
c.271C>A
11g.71437861T>ACA381702982DHCR7c.914A>T (p.Tyr305Phe)
c.740A>T (p.Tyr247Phe)
c.965A>T (p.Tyr322Phe)
c.950A>T (p.Tyr317Phe)
n.954A>T
c.329A>T (p.Tyr110Phe)
c.818A>T (p.Tyr273Phe)
c.281A>T (p.Tyr94Phe)
c.164A>T (p.Tyr55Phe)
c.270A>T
11g.71437861T>CCA381702983DHCR7c.914A>G (p.Tyr305Cys)
c.740A>G (p.Tyr247Cys)
c.965A>G (p.Tyr322Cys)
c.950A>G (p.Tyr317Cys)
n.954A>G
c.329A>G (p.Tyr110Cys)
c.818A>G (p.Tyr273Cys)
c.281A>G (p.Tyr94Cys)
c.164A>G (p.Tyr55Cys)
c.270A>G
 gnomAD v4
11g.71437861T>GCA381702984DHCR7c.914A>C (p.Tyr305Ser)
c.740A>C (p.Tyr247Ser)
c.965A>C (p.Tyr322Ser)
c.950A>C (p.Tyr317Ser)
n.954A>C
c.329A>C (p.Tyr110Ser)
c.818A>C (p.Tyr273Ser)
c.281A>C (p.Tyr94Ser)
c.164A>C (p.Tyr55Ser)
c.270A>C
 dbSNP
11g.71437861T=CA1981488022DHCR7c.914A= (p.Tyr305=)
c.740A= (p.Tyr247=)
c.965A= (p.Tyr322=)
c.950A= (p.Tyr317=)
n.954A=
c.329A= (p.Tyr110=)
c.818A= (p.Tyr273=)
c.281A= (p.Tyr94=)
c.164A= (p.Tyr55=)
c.270A=
11g.71437862A>CCA381702985DHCR7c.913T>G (p.Tyr305Asp)
c.739T>G (p.Tyr247Asp)
c.964T>G (p.Tyr322Asp)
c.949T>G (p.Tyr317Asp)
n.953T>G
c.328T>G (p.Tyr110Asp)
c.817T>G (p.Tyr273Asp)
c.280T>G (p.Tyr94Asp)
c.163T>G (p.Tyr55Asp)
c.269T>G
11g.71437862A>GCA381702986DHCR7c.913T>C (p.Tyr305His)
c.739T>C (p.Tyr247His)
c.964T>C (p.Tyr322His)
c.949T>C (p.Tyr317His)
n.953T>C
c.328T>C (p.Tyr110His)
c.817T>C (p.Tyr273His)
c.280T>C (p.Tyr94His)
c.163T>C (p.Tyr55His)
c.269T>C
11g.71437862A>TCA381702987DHCR7c.913T>A (p.Tyr305Asn)
c.739T>A (p.Tyr247Asn)
c.964T>A (p.Tyr322Asn)
c.949T>A (p.Tyr317Asn)
n.953T>A
c.328T>A (p.Tyr110Asn)
c.817T>A (p.Tyr273Asn)
c.280T>A (p.Tyr94Asn)
c.163T>A (p.Tyr55Asn)
c.269T>A
11g.71437863C>ACA381702988DHCR7c.912G>T (p.Trp304Cys)
c.738G>T (p.Trp246Cys)
c.963G>T (p.Trp321Cys)
c.948G>T (p.Trp316Cys)
n.952G>T
c.327G>T (p.Trp109Cys)
c.816G>T (p.Trp272Cys)
c.279G>T (p.Trp93Cys)
c.162G>T (p.Trp54Cys)
c.268G>T
11g.71437863C>GCA381702989DHCR7c.912G>C (p.Trp304Cys)
c.738G>C (p.Trp246Cys)
c.963G>C (p.Trp321Cys)
c.948G>C (p.Trp316Cys)
n.952G>C
c.327G>C (p.Trp109Cys)
c.816G>C (p.Trp272Cys)
c.279G>C (p.Trp93Cys)
c.162G>C (p.Trp54Cys)
c.268G>C
11g.71437863C>TCA381702990DHCR7c.912G>A (p.Trp304Ter)
c.738G>A (p.Trp246Ter)
c.963G>A (p.Trp321Ter)
c.948G>A (p.Trp316Ter)
n.952G>A
c.327G>A (p.Trp109Ter)
c.816G>A (p.Trp272Ter)
c.279G>A (p.Trp93Ter)
c.162G>A (p.Trp54Ter)
c.268G>A
11g.71437864C>ACA381702991DHCR7c.911G>T (p.Trp304Leu)
c.737G>T (p.Trp246Leu)
c.962G>T (p.Trp321Leu)
c.947G>T (p.Trp316Leu)
n.951G>T
c.326G>T (p.Trp109Leu)
c.815G>T (p.Trp272Leu)
c.278G>T (p.Trp93Leu)
c.161G>T (p.Trp54Leu)
c.267G>T
11g.71437864C>GCA381702992DHCR7c.911G>C (p.Trp304Ser)
c.737G>C (p.Trp246Ser)
c.962G>C (p.Trp321Ser)
c.947G>C (p.Trp316Ser)
n.951G>C
c.326G>C (p.Trp109Ser)
c.815G>C (p.Trp272Ser)
c.278G>C (p.Trp93Ser)
c.161G>C (p.Trp54Ser)
c.267G>C
11g.71437864C>TCA381702993DHCR7c.911G>A (p.Trp304Ter)
c.737G>A (p.Trp246Ter)
c.962G>A (p.Trp321Ter)
c.947G>A (p.Trp316Ter)
n.951G>A
c.326G>A (p.Trp109Ter)
c.815G>A (p.Trp272Ter)
c.278G>A (p.Trp93Ter)
c.161G>A (p.Trp54Ter)
c.267G>A
 ClinVar gnomAD v4
11g.71437865A>CCA381702995DHCR7c.910T>G (p.Trp304Gly)
c.736T>G (p.Trp246Gly)
c.961T>G (p.Trp321Gly)
c.946T>G (p.Trp316Gly)
n.950T>G
c.325T>G (p.Trp109Gly)
c.814T>G (p.Trp272Gly)
c.277T>G (p.Trp93Gly)
c.160T>G (p.Trp54Gly)
c.266T>G
11g.71437865A>GCA381702996DHCR7c.910T>C (p.Trp304Arg)
c.736T>C (p.Trp246Arg)
c.961T>C (p.Trp321Arg)
c.946T>C (p.Trp316Arg)
n.950T>C
c.325T>C (p.Trp109Arg)
c.814T>C (p.Trp272Arg)
c.277T>C (p.Trp93Arg)
c.160T>C (p.Trp54Arg)
c.266T>C
11g.71437865A>TCA381702994DHCR7c.910T>A (p.Trp304Arg)
c.736T>A (p.Trp246Arg)
c.961T>A (p.Trp321Arg)
c.946T>A (p.Trp316Arg)
n.950T>A
c.325T>A (p.Trp109Arg)
c.814T>A (p.Trp272Arg)
c.277T>A (p.Trp93Arg)
c.160T>A (p.Trp54Arg)
c.266T>A
11g.71437866C>ACA475567441DHCR7c.909G>T (p.Gly303=)
c.735G>T (p.Gly245=)
c.960G>T (p.Gly320=)
c.945G>T (p.Gly315=)
n.949G>T
c.324G>T (p.Gly108=)
c.813G>T (p.Gly271=)
c.276G>T (p.Gly92=)
c.159G>T (p.Gly53=)
c.265G>T
 ClinVar dbSNP gnomAD v4
11g.71437866C>GCA475567444DHCR7c.909G>C (p.Gly303=)
c.735G>C (p.Gly245=)
c.960G>C (p.Gly320=)
c.945G>C (p.Gly315=)
n.949G>C
c.324G>C (p.Gly108=)
c.813G>C (p.Gly271=)
c.276G>C (p.Gly92=)
c.159G>C (p.Gly53=)
c.265G>C
11g.71437866C>TCA475567447DHCR7c.909G>A (p.Gly303=)
c.735G>A (p.Gly245=)
c.960G>A (p.Gly320=)
c.945G>A (p.Gly315=)
n.949G>A
c.324G>A (p.Gly108=)
c.813G>A (p.Gly271=)
c.276G>A (p.Gly92=)
c.159G>A (p.Gly53=)
c.265G>A
11g.71437867C>ACA381702997DHCR7c.908G>T (p.Gly303Val)
c.734G>T (p.Gly245Val)
c.959G>T (p.Gly320Val)
c.944G>T (p.Gly315Val)
n.948G>T
c.323G>T (p.Gly108Val)
c.812G>T (p.Gly271Val)
c.275G>T (p.Gly92Val)
c.158G>T (p.Gly53Val)
c.264G>T
11g.71437867C>GCA381702998DHCR7c.908G>C (p.Gly303Ala)
c.734G>C (p.Gly245Ala)
c.959G>C (p.Gly320Ala)
c.944G>C (p.Gly315Ala)
n.948G>C
c.323G>C (p.Gly108Ala)
c.812G>C (p.Gly271Ala)
c.275G>C (p.Gly92Ala)
c.158G>C (p.Gly53Ala)
c.264G>C
11g.71437867C>TCA381702999DHCR7c.908G>A (p.Gly303Glu)
c.734G>A (p.Gly245Glu)
c.959G>A (p.Gly320Glu)
c.944G>A (p.Gly315Glu)
n.948G>A
c.323G>A (p.Gly108Glu)
c.812G>A (p.Gly271Glu)
c.275G>A (p.Gly92Glu)
c.158G>A (p.Gly53Glu)
c.264G>A
 ClinVar gnomAD v4
11g.71437868C>ACA6162404DHCR7c.907G>T (p.Gly303Trp)
c.733G>T (p.Gly245Trp)
c.958G>T (p.Gly320Trp)
c.943G>T (p.Gly315Trp)
n.947G>T
c.322G>T (p.Gly108Trp)
c.811G>T (p.Gly271Trp)
c.274G>T (p.Gly92Trp)
c.157G>T (p.Gly53Trp)
c.263G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71437868C=CA1981488023DHCR7c.907G= (p.Gly303=)
c.733G= (p.Gly245=)
c.958G= (p.Gly320=)
c.943G= (p.Gly315=)
n.947G=
c.322G= (p.Gly108=)
c.811G= (p.Gly271=)
c.274G= (p.Gly92=)
c.157G= (p.Gly53=)
c.263G=
11g.71437868C>GCA381703000DHCR7c.907G>C (p.Gly303Arg)
c.733G>C (p.Gly245Arg)
c.958G>C (p.Gly320Arg)
c.943G>C (p.Gly315Arg)
n.947G>C
c.322G>C (p.Gly108Arg)
c.811G>C (p.Gly271Arg)
c.274G>C (p.Gly92Arg)
c.157G>C (p.Gly53Arg)
c.263G>C
 ClinVar
11g.71437868C>TCA275430DHCR7c.907G>A (p.Gly303Arg)
c.733G>A (p.Gly245Arg)
c.958G>A (p.Gly320Arg)
c.943G>A (p.Gly315Arg)
n.947G>A
c.322G>A (p.Gly108Arg)
c.811G>A (p.Gly271Arg)
c.274G>A (p.Gly92Arg)
c.157G>A (p.Gly53Arg)
c.263G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437869G>ACA247591DHCR7c.906C>T (p.Phe302=)
c.732C>T (p.Phe244=)
c.957C>T (p.Phe319=)
c.942C>T (p.Phe314=)
n.946C>T
c.321C>T (p.Phe107=)
c.810C>T (p.Phe270=)
c.273C>T (p.Phe91=)
c.156C>T (p.Phe52=)
c.262C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71437869G>CCA341833DHCR7c.906C>G (p.Phe302Leu)
c.732C>G (p.Phe244Leu)
c.957C>G (p.Phe319Leu)
c.942C>G (p.Phe314Leu)
n.946C>G
c.321C>G (p.Phe107Leu)
c.810C>G (p.Phe270Leu)
c.273C>G (p.Phe91Leu)
c.156C>G (p.Phe52Leu)
c.262C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437869G=CA1981488024DHCR7c.906C= (p.Phe302=)
c.732C= (p.Phe244=)
c.957C= (p.Phe319=)
c.942C= (p.Phe314=)
n.946C=
c.321C= (p.Phe107=)
c.810C= (p.Phe270=)
c.273C= (p.Phe91=)
c.156C= (p.Phe52=)
c.262C=
11g.71437869G>TCA381703001DHCR7c.906C>A (p.Phe302Leu)
c.732C>A (p.Phe244Leu)
c.957C>A (p.Phe319Leu)
c.942C>A (p.Phe314Leu)
n.946C>A
c.321C>A (p.Phe107Leu)
c.810C>A (p.Phe270Leu)
c.273C>A (p.Phe91Leu)
c.156C>A (p.Phe52Leu)
c.262C>A
 dbSNP
11g.71437870A>CCA381703002DHCR7c.905T>G (p.Phe302Cys)
c.731T>G (p.Phe244Cys)
c.956T>G (p.Phe319Cys)
c.941T>G (p.Phe314Cys)
n.945T>G
c.320T>G (p.Phe107Cys)
c.809T>G (p.Phe270Cys)
c.272T>G (p.Phe91Cys)
c.155T>G (p.Phe52Cys)
c.261T>G
11g.71437870A>GCA381703003DHCR7c.905T>C (p.Phe302Ser)
c.731T>C (p.Phe244Ser)
c.956T>C (p.Phe319Ser)
c.941T>C (p.Phe314Ser)
n.945T>C
c.320T>C (p.Phe107Ser)
c.809T>C (p.Phe270Ser)
c.272T>C (p.Phe91Ser)
c.155T>C (p.Phe52Ser)
c.261T>C
11g.71437870A>TCA381703004DHCR7c.905T>A (p.Phe302Tyr)
c.731T>A (p.Phe244Tyr)
c.956T>A (p.Phe319Tyr)
c.941T>A (p.Phe314Tyr)
n.945T>A
c.320T>A (p.Phe107Tyr)
c.809T>A (p.Phe270Tyr)
c.272T>A (p.Phe91Tyr)
c.155T>A (p.Phe52Tyr)
c.261T>A
11g.71437871A>CCA381703006DHCR7c.904T>G (p.Phe302Val)
c.730T>G (p.Phe244Val)
c.955T>G (p.Phe319Val)
c.940T>G (p.Phe314Val)
n.944T>G
c.319T>G (p.Phe107Val)
c.808T>G (p.Phe270Val)
c.271T>G (p.Phe91Val)
c.154T>G (p.Phe52Val)
c.260T>G
 ClinVar
11g.71437871A>GCA381703007DHCR7c.904T>C (p.Phe302Leu)
c.730T>C (p.Phe244Leu)
c.955T>C (p.Phe319Leu)
c.940T>C (p.Phe314Leu)
n.944T>C
c.319T>C (p.Phe107Leu)
c.808T>C (p.Phe270Leu)
c.271T>C (p.Phe91Leu)
c.154T>C (p.Phe52Leu)
c.260T>C
11g.71437871A>TCA381703005DHCR7c.904T>A (p.Phe302Ile)
c.730T>A (p.Phe244Ile)
c.955T>A (p.Phe319Ile)
c.940T>A (p.Phe314Ile)
n.944T>A
c.319T>A (p.Phe107Ile)
c.808T>A (p.Phe270Ile)
c.271T>A (p.Phe91Ile)
c.154T>A (p.Phe52Ile)
c.260T>A
11g.71437872G>ACA475567483DHCR7c.903C>T (p.His301=)
c.729C>T (p.His243=)
c.954C>T (p.His318=)
c.939C>T (p.His313=)
n.943C>T
c.318C>T (p.His106=)
c.807C>T (p.His269=)
c.270C>T (p.His90=)
c.153C>T (p.His51=)
c.259C>T
 ClinVar dbSNP
11g.71437872G>CCA381703008DHCR7c.903C>G (p.His301Gln)
c.729C>G (p.His243Gln)
c.954C>G (p.His318Gln)
c.939C>G (p.His313Gln)
n.943C>G
c.318C>G (p.His106Gln)
c.807C>G (p.His269Gln)
c.270C>G (p.His90Gln)
c.153C>G (p.His51Gln)
c.259C>G
11g.71437872G=CA1981488025DHCR7c.903C= (p.His301=)
c.729C= (p.His243=)
c.954C= (p.His318=)
c.939C= (p.His313=)
n.943C=
c.318C= (p.His106=)
c.807C= (p.His269=)
c.270C= (p.His90=)
c.153C= (p.His51=)
c.259C=
11g.71437872G>TCA381703009DHCR7c.903C>A (p.His301Gln)
c.729C>A (p.His243Gln)
c.954C>A (p.His318Gln)
c.939C>A (p.His313Gln)
n.943C>A
c.318C>A (p.His106Gln)
c.807C>A (p.His269Gln)
c.270C>A (p.His90Gln)
c.153C>A (p.His51Gln)
c.259C>A
 dbSNP
11g.71437873T>ACA381703010DHCR7c.902A>T (p.His301Leu)
c.728A>T (p.His243Leu)
c.953A>T (p.His318Leu)
c.938A>T (p.His313Leu)
n.942A>T
c.317A>T (p.His106Leu)
c.806A>T (p.His269Leu)
c.269A>T (p.His90Leu)
c.152A>T (p.His51Leu)
c.258A>T
11g.71437873T>CCA381703011DHCR7c.902A>G (p.His301Arg)
c.728A>G (p.His243Arg)
c.953A>G (p.His318Arg)
c.938A>G (p.His313Arg)
n.942A>G
c.317A>G (p.His106Arg)
c.806A>G (p.His269Arg)
c.269A>G (p.His90Arg)
c.152A>G (p.His51Arg)
c.258A>G
 ClinVar dbSNP
11g.71437873T>GCA381703012DHCR7c.902A>C (p.His301Pro)
c.728A>C (p.His243Pro)
c.953A>C (p.His318Pro)
c.938A>C (p.His313Pro)
n.942A>C
c.317A>C (p.His106Pro)
c.806A>C (p.His269Pro)
c.269A>C (p.His90Pro)
c.152A>C (p.His51Pro)
c.258A>C
11g.71437873T=CA1981488026DHCR7c.902A= (p.His301=)
c.728A= (p.His243=)
c.953A= (p.His318=)
c.938A= (p.His313=)
n.942A=
c.317A= (p.His106=)
c.806A= (p.His269=)
c.269A= (p.His90=)
c.152A= (p.His51=)
c.258A=
11g.71437874G>ACA381703015DHCR7c.901C>T (p.His301Tyr)
c.727C>T (p.His243Tyr)
c.952C>T (p.His318Tyr)
c.937C>T (p.His313Tyr)
n.941C>T
c.316C>T (p.His106Tyr)
c.805C>T (p.His269Tyr)
c.268C>T (p.His90Tyr)
c.151C>T (p.His51Tyr)
c.257C>T
11g.71437874G>CCA381703013DHCR7c.901C>G (p.His301Asp)
c.727C>G (p.His243Asp)
c.952C>G (p.His318Asp)
c.937C>G (p.His313Asp)
n.941C>G
c.316C>G (p.His106Asp)
c.805C>G (p.His269Asp)
c.268C>G (p.His90Asp)
c.151C>G (p.His51Asp)
c.257C>G
11g.71437874G=CA1981488027DHCR7c.901C= (p.His301=)
c.727C= (p.His243=)
c.952C= (p.His318=)
c.937C= (p.His313=)
n.941C=
c.316C= (p.His106=)
c.805C= (p.His269=)
c.268C= (p.His90=)
c.151C= (p.His51=)
c.257C=
11g.71437874G>TCA381703014DHCR7c.901C>A (p.His301Asn)
c.727C>A (p.His243Asn)
c.952C>A (p.His318Asn)
c.937C>A (p.His313Asn)
n.941C>A
c.316C>A (p.His106Asn)
c.805C>A (p.His269Asn)
c.268C>A (p.His90Asn)
c.151C>A (p.His51Asn)
c.257C>A
 ClinVar dbSNP gnomAD v4
11g.71437875G>ACA475567498DHCR7c.900C>T (p.Asp300=)
c.726C>T (p.Asp242=)
c.951C>T (p.Asp317=)
c.936C>T (p.Asp312=)
n.940C>T
c.315C>T (p.Asp105=)
c.804C>T (p.Asp268=)
c.267C>T (p.Asp89=)
c.150C>T (p.Asp50=)
c.256C>T
11g.71437875G>CCA381703016DHCR7c.900C>G (p.Asp300Glu)
c.726C>G (p.Asp242Glu)
c.951C>G (p.Asp317Glu)
c.936C>G (p.Asp312Glu)
n.940C>G
c.315C>G (p.Asp105Glu)
c.804C>G (p.Asp268Glu)
c.267C>G (p.Asp89Glu)
c.150C>G (p.Asp50Glu)
c.256C>G
11g.71437875G>TCA381703017DHCR7c.900C>A (p.Asp300Glu)
c.726C>A (p.Asp242Glu)
c.951C>A (p.Asp317Glu)
c.936C>A (p.Asp312Glu)
n.940C>A
c.315C>A (p.Asp105Glu)
c.804C>A (p.Asp268Glu)
c.267C>A (p.Asp89Glu)
c.150C>A (p.Asp50Glu)
c.256C>A
11g.71437876T>ACA381703018DHCR7c.899A>T (p.Asp300Val)
c.725A>T (p.Asp242Val)
c.950A>T (p.Asp317Val)
c.935A>T (p.Asp312Val)
n.939A>T
c.314A>T (p.Asp105Val)
c.803A>T (p.Asp268Val)
c.266A>T (p.Asp89Val)
c.149A>T (p.Asp50Val)
c.255A>T
11g.71437876T>CCA381703019DHCR7c.899A>G (p.Asp300Gly)
c.725A>G (p.Asp242Gly)
c.950A>G (p.Asp317Gly)
c.935A>G (p.Asp312Gly)
n.939A>G
c.314A>G (p.Asp105Gly)
c.803A>G (p.Asp268Gly)
c.266A>G (p.Asp89Gly)
c.149A>G (p.Asp50Gly)
c.255A>G
11g.71437876T>GCA381703020DHCR7c.899A>C (p.Asp300Ala)
c.725A>C (p.Asp242Ala)
c.950A>C (p.Asp317Ala)
c.935A>C (p.Asp312Ala)
n.939A>C
c.314A>C (p.Asp105Ala)
c.803A>C (p.Asp268Ala)
c.266A>C (p.Asp89Ala)
c.149A>C (p.Asp50Ala)
c.255A>C
11g.71437877C>ACA381703021DHCR7c.898G>T (p.Asp300Tyr)
c.724G>T (p.Asp242Tyr)
c.949G>T (p.Asp317Tyr)
c.934G>T (p.Asp312Tyr)
n.938G>T
c.313G>T (p.Asp105Tyr)
c.802G>T (p.Asp268Tyr)
c.265G>T (p.Asp89Tyr)
c.148G>T (p.Asp50Tyr)
c.254G>T
11g.71437877C=CA1981488028DHCR7c.898G= (p.Asp300=)
c.724G= (p.Asp242=)
c.949G= (p.Asp317=)
c.934G= (p.Asp312=)
n.938G=
c.313G= (p.Asp105=)
c.802G= (p.Asp268=)
c.265G= (p.Asp89=)
c.148G= (p.Asp50=)
c.254G=
11g.71437877C>GCA381703023DHCR7c.898G>C (p.Asp300His)
c.724G>C (p.Asp242His)
c.949G>C (p.Asp317His)
c.934G>C (p.Asp312His)
n.938G>C
c.313G>C (p.Asp105His)
c.802G>C (p.Asp268His)
c.265G>C (p.Asp89His)
c.148G>C (p.Asp50His)
c.254G>C
11g.71437877C>TCA381703022DHCR7c.898G>A (p.Asp300Asn)
c.724G>A (p.Asp242Asn)
c.949G>A (p.Asp317Asn)
c.934G>A (p.Asp312Asn)
n.938G>A
c.313G>A (p.Asp105Asn)
c.802G>A (p.Asp268Asn)
c.265G>A (p.Asp89Asn)
c.148G>A (p.Asp50Asn)
c.254G>A
 ClinVar dbSNP gnomAD v4
11g.71437878A>CCA381703024DHCR7c.897T>G (p.His299Gln)
c.723T>G (p.His241Gln)
c.948T>G (p.His316Gln)
c.933T>G (p.His311Gln)
n.937T>G
c.312T>G (p.His104Gln)
c.801T>G (p.His267Gln)
c.264T>G (p.His88Gln)
c.147T>G (p.His49Gln)
c.253T>G
11g.71437878A>GCA475567518DHCR7c.897T>C (p.His299=)
c.723T>C (p.His241=)
c.948T>C (p.His316=)
c.933T>C (p.His311=)
n.937T>C
c.312T>C (p.His104=)
c.801T>C (p.His267=)
c.264T>C (p.His88=)
c.147T>C (p.His49=)
c.253T>C
 gnomAD v4
11g.71437878A>TCA381703025DHCR7c.897T>A (p.His299Gln)
c.723T>A (p.His241Gln)
c.948T>A (p.His316Gln)
c.933T>A (p.His311Gln)
n.937T>A
c.312T>A (p.His104Gln)
c.801T>A (p.His267Gln)
c.264T>A (p.His88Gln)
c.147T>A (p.His49Gln)
c.253T>A
11g.71437879T>ACA381703026DHCR7c.896A>T (p.His299Leu)
c.722A>T (p.His241Leu)
c.947A>T (p.His316Leu)
c.932A>T (p.His311Leu)
n.936A>T
c.311A>T (p.His104Leu)
c.800A>T (p.His267Leu)
c.263A>T (p.His88Leu)
c.146A>T (p.His49Leu)
c.252A>T
11g.71437879T>CCA381703028DHCR7c.896A>G (p.His299Arg)
c.722A>G (p.His241Arg)
c.947A>G (p.His316Arg)
c.932A>G (p.His311Arg)
n.936A>G
c.311A>G (p.His104Arg)
c.800A>G (p.His267Arg)
c.263A>G (p.His88Arg)
c.146A>G (p.His49Arg)
c.252A>G
 dbSNP gnomAD v2 gnomAD v4
11g.71437879T>GCA381703027DHCR7c.896A>C (p.His299Pro)
c.722A>C (p.His241Pro)
c.947A>C (p.His316Pro)
c.932A>C (p.His311Pro)
n.936A>C
c.311A>C (p.His104Pro)
c.800A>C (p.His267Pro)
c.263A>C (p.His88Pro)
c.146A>C (p.His49Pro)
c.252A>C
11g.71437879T=CA1981488029DHCR7c.896A= (p.His299=)
c.722A= (p.His241=)
c.947A= (p.His316=)
c.932A= (p.His311=)
n.936A=
c.311A= (p.His104=)
c.800A= (p.His267=)
c.263A= (p.His88=)
c.146A= (p.His49=)
c.252A=
11g.71437880G>ACA6162405DHCR7c.895C>T (p.His299Tyr)
c.721C>T (p.His241Tyr)
c.946C>T (p.His316Tyr)
c.931C>T (p.His311Tyr)
n.935C>T
c.310C>T (p.His104Tyr)
c.799C>T (p.His267Tyr)
c.262C>T (p.His88Tyr)
c.145C>T (p.His49Tyr)
c.251C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71437880G>CCA381703030DHCR7c.895C>G (p.His299Asp)
c.721C>G (p.His241Asp)
c.946C>G (p.His316Asp)
c.931C>G (p.His311Asp)
n.935C>G
c.310C>G (p.His104Asp)
c.799C>G (p.His267Asp)
c.262C>G (p.His88Asp)
c.145C>G (p.His49Asp)
c.251C>G
11g.71437880G=CA1981488030DHCR7c.895C= (p.His299=)
c.721C= (p.His241=)
c.946C= (p.His316=)
c.931C= (p.His311=)
n.935C=
c.310C= (p.His104=)
c.799C= (p.His267=)
c.262C= (p.His88=)
c.145C= (p.His49=)
c.251C=
11g.71437880G>TCA381703029DHCR7c.895C>A (p.His299Asn)
c.721C>A (p.His241Asn)
c.946C>A (p.His316Asn)
c.931C>A (p.His311Asn)
n.935C>A
c.310C>A (p.His104Asn)
c.799C>A (p.His267Asn)
c.262C>A (p.His88Asn)
c.145C>A (p.His49Asn)
c.251C>A
11g.71437881G>ACA6162406DHCR7c.894C>T (p.Cys298=)
c.720C>T (p.Cys240=)
c.945C>T (p.Cys315=)
c.930C>T (p.Cys310=)
n.934C>T
c.309C>T (p.Cys103=)
c.798C>T (p.Cys266=)
c.261C>T (p.Cys87=)
c.144C>T (p.Cys48=)
c.250C>T
 dbSNP ExAC gnomAD v2
11g.71437881G>CCA381703031DHCR7c.894C>G (p.Cys298Trp)
c.720C>G (p.Cys240Trp)
c.945C>G (p.Cys315Trp)
c.930C>G (p.Cys310Trp)
n.934C>G
c.309C>G (p.Cys103Trp)
c.798C>G (p.Cys266Trp)
c.261C>G (p.Cys87Trp)
c.144C>G (p.Cys48Trp)
c.250C>G
11g.71437881G=CA1981488031DHCR7c.894C= (p.Cys298=)
c.720C= (p.Cys240=)
c.945C= (p.Cys315=)
c.930C= (p.Cys310=)
n.934C=
c.309C= (p.Cys103=)
c.798C= (p.Cys266=)
c.261C= (p.Cys87=)
c.144C= (p.Cys48=)
c.250C=
11g.71437881G>TCA381703032DHCR7c.894C>A (p.Cys298Ter)
c.720C>A (p.Cys240Ter)
c.945C>A (p.Cys315Ter)
c.930C>A (p.Cys310Ter)
n.934C>A
c.309C>A (p.Cys103Ter)
c.798C>A (p.Cys266Ter)
c.261C>A (p.Cys87Ter)
c.144C>A (p.Cys48Ter)
c.250C>A
 ClinVar dbSNP
11g.71437882C>ACA381703033DHCR7c.893G>T (p.Cys298Phe)
c.719G>T (p.Cys240Phe)
c.944G>T (p.Cys315Phe)
c.929G>T (p.Cys310Phe)
n.933G>T
c.308G>T (p.Cys103Phe)
c.797G>T (p.Cys266Phe)
c.260G>T (p.Cys87Phe)
c.143G>T (p.Cys48Phe)
c.249G>T
11g.71437882C>GCA381703034DHCR7c.893G>C (p.Cys298Ser)
c.719G>C (p.Cys240Ser)
c.944G>C (p.Cys315Ser)
c.929G>C (p.Cys310Ser)
n.933G>C
c.308G>C (p.Cys103Ser)
c.797G>C (p.Cys266Ser)
c.260G>C (p.Cys87Ser)
c.143G>C (p.Cys48Ser)
c.249G>C
11g.71437882C>TCA381703035DHCR7c.893G>A (p.Cys298Tyr)
c.719G>A (p.Cys240Tyr)
c.944G>A (p.Cys315Tyr)
c.929G>A (p.Cys310Tyr)
n.933G>A
c.308G>A (p.Cys103Tyr)
c.797G>A (p.Cys266Tyr)
c.260G>A (p.Cys87Tyr)
c.143G>A (p.Cys48Tyr)
c.249G>A
11g.71437883A>CCA381703036DHCR7c.892T>G (p.Cys298Gly)
c.718T>G (p.Cys240Gly)
c.943T>G (p.Cys315Gly)
c.928T>G (p.Cys310Gly)
n.932T>G
c.307T>G (p.Cys103Gly)
c.796T>G (p.Cys266Gly)
c.259T>G (p.Cys87Gly)
c.142T>G (p.Cys48Gly)
c.248T>G
11g.71437883A>GCA381703037DHCR7c.892T>C (p.Cys298Arg)
c.718T>C (p.Cys240Arg)
c.943T>C (p.Cys315Arg)
c.928T>C (p.Cys310Arg)
n.932T>C
c.307T>C (p.Cys103Arg)
c.796T>C (p.Cys266Arg)
c.259T>C (p.Cys87Arg)
c.142T>C (p.Cys48Arg)
c.248T>C
11g.71437883A>TCA381703038DHCR7c.892T>A (p.Cys298Ser)
c.718T>A (p.Cys240Ser)
c.943T>A (p.Cys315Ser)
c.928T>A (p.Cys310Ser)
n.932T>A
c.307T>A (p.Cys103Ser)
c.796T>A (p.Cys266Ser)
c.259T>A (p.Cys87Ser)
c.142T>A (p.Cys48Ser)
c.248T>A
11g.71437884G>ACA475567558DHCR7c.891C>T (p.Ile297=)
c.717C>T (p.Ile239=)
c.942C>T (p.Ile314=)
c.927C>T (p.Ile309=)
n.931C>T
c.306C>T (p.Ile102=)
c.795C>T (p.Ile265=)
c.258C>T (p.Ile86=)
c.141C>T (p.Ile47=)
c.247C>T
 ClinVar dbSNP
11g.71437884G>CCA381703039DHCR7c.891C>G (p.Ile297Met)
c.717C>G (p.Ile239Met)
c.942C>G (p.Ile314Met)
c.927C>G (p.Ile309Met)
n.931C>G
c.306C>G (p.Ile102Met)
c.795C>G (p.Ile265Met)
c.258C>G (p.Ile86Met)
c.141C>G (p.Ile47Met)
c.247C>G
11g.71437884G>TCA475567562DHCR7c.891C>A (p.Ile297=)
c.717C>A (p.Ile239=)
c.942C>A (p.Ile314=)
c.927C>A (p.Ile309=)
n.931C>A
c.306C>A (p.Ile102=)
c.795C>A (p.Ile265=)
c.258C>A (p.Ile86=)
c.141C>A (p.Ile47=)
c.247C>A
11g.71437885A>CCA381703040DHCR7c.890T>G (p.Ile297Ser)
c.716T>G (p.Ile239Ser)
c.941T>G (p.Ile314Ser)
c.926T>G (p.Ile309Ser)
n.930T>G
c.305T>G (p.Ile102Ser)
c.794T>G (p.Ile265Ser)
c.257T>G (p.Ile86Ser)
c.140T>G (p.Ile47Ser)
c.246T>G
11g.71437885A>GCA381703041DHCR7c.890T>C (p.Ile297Thr)
c.716T>C (p.Ile239Thr)
c.941T>C (p.Ile314Thr)
c.926T>C (p.Ile309Thr)
n.930T>C
c.305T>C (p.Ile102Thr)
c.794T>C (p.Ile265Thr)
c.257T>C (p.Ile86Thr)
c.140T>C (p.Ile47Thr)
c.246T>C
 gnomAD v4
11g.71437885A>TCA381703042DHCR7c.890T>A (p.Ile297Asn)
c.716T>A (p.Ile239Asn)
c.941T>A (p.Ile314Asn)
c.926T>A (p.Ile309Asn)
n.930T>A
c.305T>A (p.Ile102Asn)
c.794T>A (p.Ile265Asn)
c.257T>A (p.Ile86Asn)
c.140T>A (p.Ile47Asn)
c.246T>A
11g.71437886T>ACA381703043DHCR7c.889A>T (p.Ile297Phe)
c.715A>T (p.Ile239Phe)
c.940A>T (p.Ile314Phe)
c.925A>T (p.Ile309Phe)
n.929A>T
c.304A>T (p.Ile102Phe)
c.793A>T (p.Ile265Phe)
c.256A>T (p.Ile86Phe)
c.139A>T (p.Ile47Phe)
c.245A>T
11g.71437886T>CCA381703045DHCR7c.889A>G (p.Ile297Val)
c.715A>G (p.Ile239Val)
c.940A>G (p.Ile314Val)
c.925A>G (p.Ile309Val)
n.929A>G
c.304A>G (p.Ile102Val)
c.793A>G (p.Ile265Val)
c.256A>G (p.Ile86Val)
c.139A>G (p.Ile47Val)
c.245A>G
 dbSNP
11g.71437886T>GCA381703044DHCR7c.889A>C (p.Ile297Leu)
c.715A>C (p.Ile239Leu)
c.940A>C (p.Ile314Leu)
c.925A>C (p.Ile309Leu)
n.929A>C
c.304A>C (p.Ile102Leu)
c.793A>C (p.Ile265Leu)
c.256A>C (p.Ile86Leu)
c.139A>C (p.Ile47Leu)
c.245A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71437886T=CA1981488032DHCR7c.889A= (p.Ile297=)
c.715A= (p.Ile239=)
c.940A= (p.Ile314=)
c.925A= (p.Ile309=)
n.929A=
c.304A= (p.Ile102=)
c.793A= (p.Ile265=)
c.256A= (p.Ile86=)
c.139A= (p.Ile47=)
c.245A=
11g.71437887G>ACA475567581DHCR7c.888C>T (p.Asp296=)
c.714C>T (p.Asp238=)
c.939C>T (p.Asp313=)
c.924C>T (p.Asp308=)
n.928C>T
c.303C>T (p.Asp101=)
c.792C>T (p.Asp264=)
c.255C>T (p.Asp85=)
c.138C>T (p.Asp46=)
c.244C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71437887G>CCA381703046DHCR7c.888C>G (p.Asp296Glu)
c.714C>G (p.Asp238Glu)
c.939C>G (p.Asp313Glu)
c.924C>G (p.Asp308Glu)
n.928C>G
c.303C>G (p.Asp101Glu)
c.792C>G (p.Asp264Glu)
c.255C>G (p.Asp85Glu)
c.138C>G (p.Asp46Glu)
c.244C>G
11g.71437887G=CA1981488033DHCR7c.888C= (p.Asp296=)
c.714C= (p.Asp238=)
c.939C= (p.Asp313=)
c.924C= (p.Asp308=)
n.928C=
c.303C= (p.Asp101=)
c.792C= (p.Asp264=)
c.255C= (p.Asp85=)
c.138C= (p.Asp46=)
c.244C=
11g.71437887G>TCA381703047DHCR7c.888C>A (p.Asp296Glu)
c.714C>A (p.Asp238Glu)
c.939C>A (p.Asp313Glu)
c.924C>A (p.Asp308Glu)
n.928C>A
c.303C>A (p.Asp101Glu)
c.792C>A (p.Asp264Glu)
c.255C>A (p.Asp85Glu)
c.138C>A (p.Asp46Glu)
c.244C>A
11g.71437888T>ACA381703048DHCR7c.887A>T (p.Asp296Val)
c.713A>T (p.Asp238Val)
c.938A>T (p.Asp313Val)
c.923A>T (p.Asp308Val)
n.927A>T
c.302A>T (p.Asp101Val)
c.791A>T (p.Asp264Val)
c.254A>T (p.Asp85Val)
c.137A>T (p.Asp46Val)
c.243A>T
11g.71437888T>CCA381703049DHCR7c.887A>G (p.Asp296Gly)
c.713A>G (p.Asp238Gly)
c.938A>G (p.Asp313Gly)
c.923A>G (p.Asp308Gly)
n.927A>G
c.302A>G (p.Asp101Gly)
c.791A>G (p.Asp264Gly)
c.254A>G (p.Asp85Gly)
c.137A>G (p.Asp46Gly)
c.243A>G
 gnomAD v4
11g.71437888T>GCA381703050DHCR7c.887A>C (p.Asp296Ala)
c.713A>C (p.Asp238Ala)
c.938A>C (p.Asp313Ala)
c.923A>C (p.Asp308Ala)
n.927A>C
c.302A>C (p.Asp101Ala)
c.791A>C (p.Asp264Ala)
c.254A>C (p.Asp85Ala)
c.137A>C (p.Asp46Ala)
c.243A>C
11g.71437889C>ACA381703051DHCR7c.886G>T (p.Asp296Tyr)
c.712G>T (p.Asp238Tyr)
c.937G>T (p.Asp313Tyr)
c.922G>T (p.Asp308Tyr)
n.926G>T
c.301G>T (p.Asp101Tyr)
c.790G>T (p.Asp264Tyr)
c.253G>T (p.Asp85Tyr)
c.136G>T (p.Asp46Tyr)
c.242G>T
11g.71437889C>GCA381703052DHCR7c.886G>C (p.Asp296His)
c.712G>C (p.Asp238His)
c.937G>C (p.Asp313His)
c.922G>C (p.Asp308His)
n.926G>C
c.301G>C (p.Asp101His)
c.790G>C (p.Asp264His)
c.253G>C (p.Asp85His)
c.136G>C (p.Asp46His)
c.242G>C
11g.71437889C>TCA381703053DHCR7c.886G>A (p.Asp296Asn)
c.712G>A (p.Asp238Asn)
c.937G>A (p.Asp313Asn)
c.922G>A (p.Asp308Asn)
n.926G>A
c.301G>A (p.Asp101Asn)
c.790G>A (p.Asp264Asn)
c.253G>A (p.Asp85Asn)
c.136G>A (p.Asp46Asn)
c.242G>A
11g.71437890A=CA1981488034DHCR7c.885T= (p.Ile295=)
c.711T= (p.Ile237=)
c.936T= (p.Ile312=)
c.921T= (p.Ile307=)
n.925T=
c.300T= (p.Ile100=)
c.789T= (p.Ile263=)
c.252T= (p.Ile84=)
c.135T= (p.Ile45=)
c.241T=
11g.71437890A>CCA381703054DHCR7c.885T>G (p.Ile295Met)
c.711T>G (p.Ile237Met)
c.936T>G (p.Ile312Met)
c.921T>G (p.Ile307Met)
n.925T>G
c.300T>G (p.Ile100Met)
c.789T>G (p.Ile263Met)
c.252T>G (p.Ile84Met)
c.135T>G (p.Ile45Met)
c.241T>G
11g.71437890A>GCA475567598DHCR7c.885T>C (p.Ile295=)
c.711T>C (p.Ile237=)
c.936T>C (p.Ile312=)
c.921T>C (p.Ile307=)
n.925T>C
c.300T>C (p.Ile100=)
c.789T>C (p.Ile263=)
c.252T>C (p.Ile84=)
c.135T>C (p.Ile45=)
c.241T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71437890A>TCA475567600DHCR7c.885T>A (p.Ile295=)
c.711T>A (p.Ile237=)
c.936T>A (p.Ile312=)
c.921T>A (p.Ile307=)
n.925T>A
c.300T>A (p.Ile100=)
c.789T>A (p.Ile263=)
c.252T>A (p.Ile84=)
c.135T>A (p.Ile45=)
c.241T>A
11g.71437891A=CA1981488035DHCR7c.884T= (p.Ile295=)
c.710T= (p.Ile237=)
c.935T= (p.Ile312=)
c.920T= (p.Ile307=)
n.924T=
c.299T= (p.Ile100=)
c.788T= (p.Ile263=)
c.251T= (p.Ile84=)
c.134T= (p.Ile45=)
c.240T=
11g.71437891A>CCA381703056DHCR7c.884T>G (p.Ile295Ser)
c.710T>G (p.Ile237Ser)
c.935T>G (p.Ile312Ser)
c.920T>G (p.Ile307Ser)
n.924T>G
c.299T>G (p.Ile100Ser)
c.788T>G (p.Ile263Ser)
c.251T>G (p.Ile84Ser)
c.134T>G (p.Ile45Ser)
c.240T>G
11g.71437891A>GCA224326636DHCR7c.884T>C (p.Ile295Thr)
c.710T>C (p.Ile237Thr)
c.935T>C (p.Ile312Thr)
c.920T>C (p.Ile307Thr)
n.924T>C
c.299T>C (p.Ile100Thr)
c.788T>C (p.Ile263Thr)
c.251T>C (p.Ile84Thr)
c.134T>C (p.Ile45Thr)
c.240T>C
 dbSNP gnomAD v2 gnomAD v4
11g.71437891A>TCA381703055DHCR7c.884T>A (p.Ile295Asn)
c.710T>A (p.Ile237Asn)
c.935T>A (p.Ile312Asn)
c.920T>A (p.Ile307Asn)
n.924T>A
c.299T>A (p.Ile100Asn)
c.788T>A (p.Ile263Asn)
c.251T>A (p.Ile84Asn)
c.134T>A (p.Ile45Asn)
c.240T>A
11g.71437892T>ACA381703057DHCR7c.883A>T (p.Ile295Phe)
c.709A>T (p.Ile237Phe)
c.934A>T (p.Ile312Phe)
c.919A>T (p.Ile307Phe)
n.923A>T
c.298A>T (p.Ile100Phe)
c.787A>T (p.Ile263Phe)
c.250A>T (p.Ile84Phe)
c.133A>T (p.Ile45Phe)
c.239A>T
 ClinVar gnomAD v4
11g.71437892T>CCA6162407DHCR7c.883A>G (p.Ile295Val)
c.709A>G (p.Ile237Val)
c.934A>G (p.Ile312Val)
c.919A>G (p.Ile307Val)
n.923A>G
c.298A>G (p.Ile100Val)
c.787A>G (p.Ile263Val)
c.250A>G (p.Ile84Val)
c.133A>G (p.Ile45Val)
c.239A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437892T>GCA381703058DHCR7c.883A>C (p.Ile295Leu)
c.709A>C (p.Ile237Leu)
c.934A>C (p.Ile312Leu)
c.919A>C (p.Ile307Leu)
n.923A>C
c.298A>C (p.Ile100Leu)
c.787A>C (p.Ile263Leu)
c.250A>C (p.Ile84Leu)
c.133A>C (p.Ile45Leu)
c.239A>C
11g.71437892T=CA1981488036DHCR7c.883A= (p.Ile295=)
c.709A= (p.Ile237=)
c.934A= (p.Ile312=)
c.919A= (p.Ile307=)
n.923A=
c.298A= (p.Ile100=)
c.787A= (p.Ile263=)
c.250A= (p.Ile84=)
c.133A= (p.Ile45=)
c.239A=
11g.71437893G>ACA6162408DHCR7c.882C>T (p.Thr294=)
c.708C>T (p.Thr236=)
c.933C>T (p.Thr311=)
c.918C>T (p.Thr306=)
n.922C>T
c.297C>T (p.Thr99=)
c.786C>T (p.Thr262=)
c.249C>T (p.Thr83=)
c.132C>T (p.Thr44=)
c.238C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437893G>CCA475567618DHCR7c.882C>G (p.Thr294=)
c.708C>G (p.Thr236=)
c.933C>G (p.Thr311=)
c.918C>G (p.Thr306=)
n.922C>G
c.297C>G (p.Thr99=)
c.786C>G (p.Thr262=)
c.249C>G (p.Thr83=)
c.132C>G (p.Thr44=)
c.238C>G
11g.71437893G=CA1981488037DHCR7c.882C= (p.Thr294=)
c.708C= (p.Thr236=)
c.933C= (p.Thr311=)
c.918C= (p.Thr306=)
n.922C=
c.297C= (p.Thr99=)
c.786C= (p.Thr262=)
c.249C= (p.Thr83=)
c.132C= (p.Thr44=)
c.238C=
11g.71437893G>TCA475567615DHCR7c.882C>A (p.Thr294=)
c.708C>A (p.Thr236=)
c.933C>A (p.Thr311=)
c.918C>A (p.Thr306=)
n.922C>A
c.297C>A (p.Thr99=)
c.786C>A (p.Thr262=)
c.249C>A (p.Thr83=)
c.132C>A (p.Thr44=)
c.238C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71437894G>ACA381703059DHCR7c.881C>T (p.Thr294Ile)
c.707C>T (p.Thr236Ile)
c.932C>T (p.Thr311Ile)
c.917C>T (p.Thr306Ile)
n.921C>T
c.296C>T (p.Thr99Ile)
c.785C>T (p.Thr262Ile)
c.248C>T (p.Thr83Ile)
c.131C>T (p.Thr44Ile)
c.237C>T
 dbSNP gnomAD v2 gnomAD v4
11g.71437894G>CCA381703060DHCR7c.881C>G (p.Thr294Ser)
c.707C>G (p.Thr236Ser)
c.932C>G (p.Thr311Ser)
c.917C>G (p.Thr306Ser)
n.921C>G
c.296C>G (p.Thr99Ser)
c.785C>G (p.Thr262Ser)
c.248C>G (p.Thr83Ser)
c.131C>G (p.Thr44Ser)
c.237C>G
11g.71437894G=CA1981488038DHCR7c.881C= (p.Thr294=)
c.707C= (p.Thr236=)
c.932C= (p.Thr311=)
c.917C= (p.Thr306=)
n.921C=
c.296C= (p.Thr99=)
c.785C= (p.Thr262=)
c.248C= (p.Thr83=)
c.131C= (p.Thr44=)
c.237C=
11g.71437894G>TCA381703061DHCR7c.881C>A (p.Thr294Asn)
c.707C>A (p.Thr236Asn)
c.932C>A (p.Thr311Asn)
c.917C>A (p.Thr306Asn)
n.921C>A
c.296C>A (p.Thr99Asn)
c.785C>A (p.Thr262Asn)
c.248C>A (p.Thr83Asn)
c.131C>A (p.Thr44Asn)
c.237C>A
11g.71437895T>ACA381703062DHCR7c.880A>T (p.Thr294Ser)
c.706A>T (p.Thr236Ser)
c.931A>T (p.Thr311Ser)
c.916A>T (p.Thr306Ser)
n.920A>T
c.295A>T (p.Thr99Ser)
c.784A>T (p.Thr262Ser)
c.247A>T (p.Thr83Ser)
c.130A>T (p.Thr44Ser)
c.236A>T
11g.71437895T>CCA381703063DHCR7c.880A>G (p.Thr294Ala)
c.706A>G (p.Thr236Ala)
c.931A>G (p.Thr311Ala)
c.916A>G (p.Thr306Ala)
n.920A>G
c.295A>G (p.Thr99Ala)
c.784A>G (p.Thr262Ala)
c.247A>G (p.Thr83Ala)
c.130A>G (p.Thr44Ala)
c.236A>G
11g.71437895T>GCA381703064DHCR7c.880A>C (p.Thr294Pro)
c.706A>C (p.Thr236Pro)
c.931A>C (p.Thr311Pro)
c.916A>C (p.Thr306Pro)
n.920A>C
c.295A>C (p.Thr99Pro)
c.784A>C (p.Thr262Pro)
c.247A>C (p.Thr83Pro)
c.130A>C (p.Thr44Pro)
c.236A>C
11g.71437895_71437896delinsTCCA1981488039DHCR7c.879_880delinsGA (p.Lys293=)
c.705_706delinsGA (p.Lys235=)
c.930_931delinsGA (p.Lys310=)
c.915_916delinsGA (p.Lys305=)
n.919_920delinsGA
c.294_295delinsGA (p.Lys98=)
c.783_784delinsGA (p.Lys261=)
c.246_247delinsGA (p.Lys82=)
c.129_130delinsGA (p.Lys43=)
c.235_236delinsGA
11g.71437896delCA600051903DHCR7c.879del (p.Thr294ProfsTer?)
c.705del (p.Thr236ProfsTer?)
c.930del (p.Thr311ProfsTer?)
c.879del (p.Thr294ProfsTer29)
c.915del (p.Thr306ProfsTer?)
n.919del
c.294del (p.Thr99ProfsTer?)
c.783del (p.Thr262ProfsTer?)
c.246del (p.Thr83ProfsTer?)
c.129del (p.Thr44ProfsTer?)
c.235del
 dbSNP gnomAD v2 gnomAD v4
11g.71437896C>ACA381703065DHCR7c.879G>T (p.Lys293Asn)
c.705G>T (p.Lys235Asn)
c.930G>T (p.Lys310Asn)
c.915G>T (p.Lys305Asn)
n.919G>T
c.294G>T (p.Lys98Asn)
c.783G>T (p.Lys261Asn)
c.246G>T (p.Lys82Asn)
c.129G>T (p.Lys43Asn)
c.235G>T
11g.71437896C=CA1981488040DHCR7c.879G= (p.Lys293=)
c.705G= (p.Lys235=)
c.930G= (p.Lys310=)
c.915G= (p.Lys305=)
n.919G=
c.294G= (p.Lys98=)
c.783G= (p.Lys261=)
c.246G= (p.Lys82=)
c.129G= (p.Lys43=)
c.235G=
11g.71437896C>GCA381703066DHCR7c.879G>C (p.Lys293Asn)
c.705G>C (p.Lys235Asn)
c.930G>C (p.Lys310Asn)
c.915G>C (p.Lys305Asn)
n.919G>C
c.294G>C (p.Lys98Asn)
c.783G>C (p.Lys261Asn)
c.246G>C (p.Lys82Asn)
c.129G>C (p.Lys43Asn)
c.235G>C
11g.71437896C>TCA224326641DHCR7c.879G>A (p.Lys293=)
c.705G>A (p.Lys235=)
c.930G>A (p.Lys310=)
c.915G>A (p.Lys305=)
n.919G>A
c.294G>A (p.Lys98=)
c.783G>A (p.Lys261=)
c.246G>A (p.Lys82=)
c.129G>A (p.Lys43=)
c.235G>A
 ClinVar dbSNP
11g.71437897T>ACA381703069DHCR7c.878A>T (p.Lys293Met)
c.704A>T (p.Lys235Met)
c.929A>T (p.Lys310Met)
c.914A>T (p.Lys305Met)
n.918A>T
c.293A>T (p.Lys98Met)
c.782A>T (p.Lys261Met)
c.245A>T (p.Lys82Met)
c.128A>T (p.Lys43Met)
c.234A>T
11g.71437897T>CCA381703067DHCR7c.878A>G (p.Lys293Arg)
c.704A>G (p.Lys235Arg)
c.929A>G (p.Lys310Arg)
c.914A>G (p.Lys305Arg)
n.918A>G
c.293A>G (p.Lys98Arg)
c.782A>G (p.Lys261Arg)
c.245A>G (p.Lys82Arg)
c.128A>G (p.Lys43Arg)
c.234A>G
11g.71437897T>GCA381703068DHCR7c.878A>C (p.Lys293Thr)
c.704A>C (p.Lys235Thr)
c.929A>C (p.Lys310Thr)
c.914A>C (p.Lys305Thr)
n.918A>C
c.293A>C (p.Lys98Thr)
c.782A>C (p.Lys261Thr)
c.245A>C (p.Lys82Thr)
c.128A>C (p.Lys43Thr)
c.234A>C
11g.71437898T>ACA381703070DHCR7c.877A>T (p.Lys293Ter)
c.703A>T (p.Lys235Ter)
c.928A>T (p.Lys310Ter)
c.913A>T (p.Lys305Ter)
n.917A>T
c.292A>T (p.Lys98Ter)
c.781A>T (p.Lys261Ter)
c.244A>T (p.Lys82Ter)
c.127A>T (p.Lys43Ter)
c.233A>T
 ClinVar dbSNP
11g.71437898T>CCA381703071DHCR7c.877A>G (p.Lys293Glu)
c.703A>G (p.Lys235Glu)
c.928A>G (p.Lys310Glu)
c.913A>G (p.Lys305Glu)
n.917A>G
c.292A>G (p.Lys98Glu)
c.781A>G (p.Lys261Glu)
c.244A>G (p.Lys82Glu)
c.127A>G (p.Lys43Glu)
c.233A>G
11g.71437898T>GCA381703072DHCR7c.877A>C (p.Lys293Gln)
c.703A>C (p.Lys235Gln)
c.928A>C (p.Lys310Gln)
c.913A>C (p.Lys305Gln)
n.917A>C
c.292A>C (p.Lys98Gln)
c.781A>C (p.Lys261Gln)
c.244A>C (p.Lys82Gln)
c.127A>C (p.Lys43Gln)
c.233A>C
11g.71437898T=CA1981488041DHCR7c.877A= (p.Lys293=)
c.703A= (p.Lys235=)
c.928A= (p.Lys310=)
c.913A= (p.Lys305=)
n.917A=
c.292A= (p.Lys98=)
c.781A= (p.Lys261=)
c.244A= (p.Lys82=)
c.127A= (p.Lys43=)
c.233A=
11g.71437899C>ACA475567648DHCR7c.876G>T (p.Leu292=)
c.702G>T (p.Leu234=)
c.927G>T (p.Leu309=)
c.912G>T (p.Leu304=)
n.916G>T
c.291G>T (p.Leu97=)
c.780G>T (p.Leu260=)
c.243G>T (p.Leu81=)
c.126G>T (p.Leu42=)
c.232G>T
 gnomAD v4
11g.71437899C>GCA475567653DHCR7c.876G>C (p.Leu292=)
c.702G>C (p.Leu234=)
c.927G>C (p.Leu309=)
c.912G>C (p.Leu304=)
n.916G>C
c.291G>C (p.Leu97=)
c.780G>C (p.Leu260=)
c.243G>C (p.Leu81=)
c.126G>C (p.Leu42=)
c.232G>C
11g.71437899C>TCA475567651DHCR7c.876G>A (p.Leu292=)
c.702G>A (p.Leu234=)
c.927G>A (p.Leu309=)
c.912G>A (p.Leu304=)
n.916G>A
c.291G>A (p.Leu97=)
c.780G>A (p.Leu260=)
c.243G>A (p.Leu81=)
c.126G>A (p.Leu42=)
c.232G>A
 ClinVar gnomAD v4
11g.71437900A>CCA381703073DHCR7c.875T>G (p.Leu292Arg)
c.701T>G (p.Leu234Arg)
c.926T>G (p.Leu309Arg)
c.911T>G (p.Leu304Arg)
n.915T>G
c.290T>G (p.Leu97Arg)
c.779T>G (p.Leu260Arg)
c.242T>G (p.Leu81Arg)
c.125T>G (p.Leu42Arg)
c.231T>G
11g.71437900A>GCA381703074DHCR7c.875T>C (p.Leu292Pro)
c.701T>C (p.Leu234Pro)
c.926T>C (p.Leu309Pro)
c.911T>C (p.Leu304Pro)
n.915T>C
c.290T>C (p.Leu97Pro)
c.779T>C (p.Leu260Pro)
c.242T>C (p.Leu81Pro)
c.125T>C (p.Leu42Pro)
c.231T>C
11g.71437900A>TCA381703075DHCR7c.875T>A (p.Leu292Gln)
c.701T>A (p.Leu234Gln)
c.926T>A (p.Leu309Gln)
c.911T>A (p.Leu304Gln)
n.915T>A
c.290T>A (p.Leu97Gln)
c.779T>A (p.Leu260Gln)
c.242T>A (p.Leu81Gln)
c.125T>A (p.Leu42Gln)
c.231T>A
11g.71437900_71437901delCA912973040DHCR7c.874_875del (p.Leu292GlufsTer4)
c.700_701del (p.Leu234GlufsTer4)
c.925_926del (p.Leu309GlufsTer4)
c.910_911del (p.Leu304GlufsTer4)
n.914_915del
c.289_290del (p.Leu97GlufsTer4)
c.778_779del (p.Leu260GlufsTer4)
c.241_242del (p.Leu81GlufsTer4)
c.124_125del (p.Leu42GlufsTer4)
c.230_231del
11g.71437900_71437901delinsAGCA1981488042DHCR7c.874_875delinsCT (p.Leu292=)
c.700_701delinsCT (p.Leu234=)
c.925_926delinsCT (p.Leu309=)
c.910_911delinsCT (p.Leu304=)
n.914_915delinsCT
c.289_290delinsCT (p.Leu97=)
c.778_779delinsCT (p.Leu260=)
c.241_242delinsCT (p.Leu81=)
c.124_125delinsCT (p.Leu42=)
c.230_231delinsCT
11g.71437901G>ACA6162409DHCR7c.874C>T (p.Leu292=)
c.700C>T (p.Leu234=)
c.925C>T (p.Leu309=)
c.910C>T (p.Leu304=)
n.914C>T
c.289C>T (p.Leu97=)
c.778C>T (p.Leu260=)
c.241C>T (p.Leu81=)
c.124C>T (p.Leu42=)
c.230C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71437901G>CCA381703076DHCR7c.874C>G (p.Leu292Val)
c.700C>G (p.Leu234Val)
c.925C>G (p.Leu309Val)
c.910C>G (p.Leu304Val)
n.914C>G
c.289C>G (p.Leu97Val)
c.778C>G (p.Leu260Val)
c.241C>G (p.Leu81Val)
c.124C>G (p.Leu42Val)
c.230C>G
11g.71437901G=CA1981488043DHCR7c.874C= (p.Leu292=)
c.700C= (p.Leu234=)
c.925C= (p.Leu309=)
c.910C= (p.Leu304=)
n.914C=
c.289C= (p.Leu97=)
c.778C= (p.Leu260=)
c.241C= (p.Leu81=)
c.124C= (p.Leu42=)
c.230C=
11g.71437901G>TCA381703077DHCR7c.874C>A (p.Leu292Met)
c.700C>A (p.Leu234Met)
c.925C>A (p.Leu309Met)
c.910C>A (p.Leu304Met)
n.914C>A
c.289C>A (p.Leu97Met)
c.778C>A (p.Leu260Met)
c.241C>A (p.Leu81Met)
c.124C>A (p.Leu42Met)
c.230C>A
11g.71437902delCA658823156DHCR7c.874del (p.Leu292Ter)
c.700del (p.Leu234Ter)
c.925del (p.Leu309Ter)
c.910del (p.Leu304Ter)
n.914del
c.289del (p.Leu97Ter)
c.778del (p.Leu260Ter)
c.241del (p.Leu81Ter)
c.124del (p.Leu42Ter)
c.230del
 ClinVar dbSNP
11g.71437902G>ACA475567668DHCR7c.873C>T (p.Tyr291=)
c.699C>T (p.Tyr233=)
c.924C>T (p.Tyr308=)
c.909C>T (p.Tyr303=)
n.913C>T
c.288C>T (p.Tyr96=)
c.777C>T (p.Tyr259=)
c.240C>T (p.Tyr80=)
c.123C>T (p.Tyr41=)
c.229C>T
11g.71437902G>CCA381703078DHCR7c.873C>G (p.Tyr291Ter)
c.699C>G (p.Tyr233Ter)
c.924C>G (p.Tyr308Ter)
c.909C>G (p.Tyr303Ter)
n.913C>G
c.288C>G (p.Tyr96Ter)
c.777C>G (p.Tyr259Ter)
c.240C>G (p.Tyr80Ter)
c.123C>G (p.Tyr41Ter)
c.229C>G
11g.71437902G>TCA381703079DHCR7c.873C>A (p.Tyr291Ter)
c.699C>A (p.Tyr233Ter)
c.924C>A (p.Tyr308Ter)
c.909C>A (p.Tyr303Ter)
n.913C>A
c.288C>A (p.Tyr96Ter)
c.777C>A (p.Tyr259Ter)
c.240C>A (p.Tyr80Ter)
c.123C>A (p.Tyr41Ter)
c.229C>A
11g.71437903T>ACA381703082DHCR7c.872A>T (p.Tyr291Phe)
c.698A>T (p.Tyr233Phe)
c.923A>T (p.Tyr308Phe)
c.908A>T (p.Tyr303Phe)
n.912A>T
c.287A>T (p.Tyr96Phe)
c.776A>T (p.Tyr259Phe)
c.239A>T (p.Tyr80Phe)
c.776A>T
c.122A>T (p.Tyr41Phe)
c.228A>T
11g.71437903T>CCA381703081DHCR7c.872A>G (p.Tyr291Cys)
c.698A>G (p.Tyr233Cys)
c.923A>G (p.Tyr308Cys)
c.908A>G (p.Tyr303Cys)
n.912A>G
c.287A>G (p.Tyr96Cys)
c.776A>G (p.Tyr259Cys)
c.239A>G (p.Tyr80Cys)
c.776A>G
c.122A>G (p.Tyr41Cys)
c.228A>G
11g.71437903T>GCA381703080DHCR7c.872A>C (p.Tyr291Ser)
c.698A>C (p.Tyr233Ser)
c.923A>C (p.Tyr308Ser)
c.908A>C (p.Tyr303Ser)
n.912A>C
c.287A>C (p.Tyr96Ser)
c.776A>C (p.Tyr259Ser)
c.239A>C (p.Tyr80Ser)
c.776A>C
c.122A>C (p.Tyr41Ser)
c.228A>C
11g.71437904A>CCA381703083DHCR7c.871T>G (p.Tyr291Asp)
c.697T>G (p.Tyr233Asp)
c.922T>G (p.Tyr308Asp)
c.907T>G (p.Tyr303Asp)
n.911T>G
c.286T>G (p.Tyr96Asp)
c.775T>G (p.Tyr259Asp)
c.238T>G (p.Tyr80Asp)
c.775T>G
c.121T>G (p.Tyr41Asp)
c.227T>G
11g.71437904A>GCA381703084DHCR7c.871T>C (p.Tyr291His)
c.697T>C (p.Tyr233His)
c.922T>C (p.Tyr308His)
c.907T>C (p.Tyr303His)
n.911T>C
c.286T>C (p.Tyr96His)
c.775T>C (p.Tyr259His)
c.238T>C (p.Tyr80His)
c.775T>C
c.121T>C (p.Tyr41His)
c.227T>C
11g.71437904A>TCA381703085DHCR7c.871T>A (p.Tyr291Asn)
c.697T>A (p.Tyr233Asn)
c.922T>A (p.Tyr308Asn)
c.907T>A (p.Tyr303Asn)
n.911T>A
c.286T>A (p.Tyr96Asn)
c.775T>A (p.Tyr259Asn)
c.238T>A (p.Tyr80Asn)
c.775T>A
c.121T>A (p.Tyr41Asn)
c.227T>A
11g.71437905C>ACA381703086DHCR7c.870G>T (p.Trp290Cys)
c.696G>T (p.Trp232Cys)
c.921G>T (p.Trp307Cys)
c.906G>T (p.Trp302Cys)
n.910G>T
c.285G>T (p.Trp95Cys)
c.774G>T (p.Trp258Cys)
c.237G>T (p.Trp79Cys)
c.120G>T (p.Trp40Cys)
c.226G>T
 gnomAD v4
11g.71437905C=CA1981488044DHCR7c.870G= (p.Trp290=)
c.696G= (p.Trp232=)
c.921G= (p.Trp307=)
c.906G= (p.Trp302=)
n.910G=
c.285G= (p.Trp95=)
c.774G= (p.Trp258=)
c.237G= (p.Trp79=)
c.120G= (p.Trp40=)
c.226G=
11g.71437905C>GCA381703087DHCR7c.870G>C (p.Trp290Cys)
c.696G>C (p.Trp232Cys)
c.921G>C (p.Trp307Cys)
c.906G>C (p.Trp302Cys)
n.910G>C
c.285G>C (p.Trp95Cys)
c.774G>C (p.Trp258Cys)
c.237G>C (p.Trp79Cys)
c.120G>C (p.Trp40Cys)
c.226G>C
11g.71437905C>TCA6162410DHCR7c.870G>A (p.Trp290Ter)
c.696G>A (p.Trp232Ter)
c.921G>A (p.Trp307Ter)
c.906G>A (p.Trp302Ter)
n.910G>A
c.285G>A (p.Trp95Ter)
c.774G>A (p.Trp258Ter)
c.237G>A (p.Trp79Ter)
c.120G>A (p.Trp40Ter)
c.226G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71437906C>ACA381703088DHCR7c.869G>T (p.Trp290Leu)
c.695G>T (p.Trp232Leu)
c.920G>T (p.Trp307Leu)
c.905G>T (p.Trp302Leu)
n.909G>T
c.284G>T (p.Trp95Leu)
c.773G>T (p.Trp258Leu)
c.236G>T (p.Trp79Leu)
c.119G>T (p.Trp40Leu)
c.225G>T
11g.71437906C>GCA381703089DHCR7c.869G>C (p.Trp290Ser)
c.695G>C (p.Trp232Ser)
c.920G>C (p.Trp307Ser)
c.905G>C (p.Trp302Ser)
n.909G>C
c.284G>C (p.Trp95Ser)
c.773G>C (p.Trp258Ser)
c.236G>C (p.Trp79Ser)
c.119G>C (p.Trp40Ser)
c.225G>C
11g.71437906C>TCA381703090DHCR7c.869G>A (p.Trp290Ter)
c.695G>A (p.Trp232Ter)
c.920G>A (p.Trp307Ter)
c.905G>A (p.Trp302Ter)
n.909G>A
c.284G>A (p.Trp95Ter)
c.773G>A (p.Trp258Ter)
c.236G>A (p.Trp79Ter)
c.119G>A (p.Trp40Ter)
c.225G>A
11g.71437907A>CCA381703091DHCR7c.868T>G (p.Trp290Gly)
c.694T>G (p.Trp232Gly)
c.919T>G (p.Trp307Gly)
c.904T>G (p.Trp302Gly)
n.908T>G
c.283T>G (p.Trp95Gly)
c.772T>G (p.Trp258Gly)
c.235T>G (p.Trp79Gly)
c.118T>G (p.Trp40Gly)
c.224T>G
11g.71437907A>GCA381703092DHCR7c.868T>C (p.Trp290Arg)
c.694T>C (p.Trp232Arg)
c.919T>C (p.Trp307Arg)
c.904T>C (p.Trp302Arg)
n.908T>C
c.283T>C (p.Trp95Arg)
c.772T>C (p.Trp258Arg)
c.235T>C (p.Trp79Arg)
c.118T>C (p.Trp40Arg)
c.224T>C
11g.71437907A>TCA381703093DHCR7c.868T>A (p.Trp290Arg)
c.694T>A (p.Trp232Arg)
c.919T>A (p.Trp307Arg)
c.904T>A (p.Trp302Arg)
n.908T>A
c.283T>A (p.Trp95Arg)
c.772T>A (p.Trp258Arg)
c.235T>A (p.Trp79Arg)
c.118T>A (p.Trp40Arg)
c.224T>A
11g.71437908G>ACA6162411DHCR7c.867C>T (p.Thr289=)
c.693C>T (p.Thr231=)
c.918C>T (p.Thr306=)
c.903C>T (p.Thr301=)
n.907C>T
c.282C>T (p.Thr94=)
c.771C>T (p.Thr257=)
c.234C>T (p.Thr78=)
c.117C>T (p.Thr39=)
c.223C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437908G>CCA475567704DHCR7c.867C>G (p.Thr289=)
c.693C>G (p.Thr231=)
c.918C>G (p.Thr306=)
c.903C>G (p.Thr301=)
n.907C>G
c.282C>G (p.Thr94=)
c.771C>G (p.Thr257=)
c.234C>G (p.Thr78=)
c.117C>G (p.Thr39=)
c.223C>G
 gnomAD v4
11g.71437908G=CA1981488045DHCR7c.867C= (p.Thr289=)
c.693C= (p.Thr231=)
c.918C= (p.Thr306=)
c.903C= (p.Thr301=)
n.907C=
c.282C= (p.Thr94=)
c.771C= (p.Thr257=)
c.234C= (p.Thr78=)
c.117C= (p.Thr39=)
c.223C=
11g.71437908G>TCA475567708DHCR7c.867C>A (p.Thr289=)
c.693C>A (p.Thr231=)
c.918C>A (p.Thr306=)
c.903C>A (p.Thr301=)
n.907C>A
c.282C>A (p.Thr94=)
c.771C>A (p.Thr257=)
c.234C>A (p.Thr78=)
c.117C>A (p.Thr39=)
c.223C>A
11g.71437908_71437925delinsGGTTTCGTTCCAGAAGAACA1981488046DHCR7c.850_867delinsTTCTTCTGGAACGAAACC (p.Phe284=)
c.676_693delinsTTCTTCTGGAACGAAACC (p.Phe226=)
c.901_918delinsTTCTTCTGGAACGAAACC (p.Phe301=)
c.886_903delinsTTCTTCTGGAACGAAACC (p.Phe296=)
n.890_907delinsTTCTTCTGGAACGAAACC
c.265_282delinsTTCTTCTGGAACGAAACC (p.Phe89=)
c.754_771delinsTTCTTCTGGAACGAAACC (p.Phe252=)
c.217_234delinsTTCTTCTGGAACGAAACC (p.Phe73=)
c.100_117delinsTTCTTCTGGAACGAAACC (p.Phe34=)
c.206_223delinsTTCTTCTGGAACGAAACC
11g.71437909G>ACA253946DHCR7c.866C>T (p.Thr289Ile)
c.692C>T (p.Thr231Ile)
c.917C>T (p.Thr306Ile)
c.902C>T (p.Thr301Ile)
n.906C>T
c.281C>T (p.Thr94Ile)
c.770C>T (p.Thr257Ile)
c.233C>T (p.Thr78Ile)
c.116C>T (p.Thr39Ile)
c.222C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437909G>CCA381703095DHCR7c.866C>G (p.Thr289Ser)
c.692C>G (p.Thr231Ser)
c.917C>G (p.Thr306Ser)
c.902C>G (p.Thr301Ser)
n.906C>G
c.281C>G (p.Thr94Ser)
c.770C>G (p.Thr257Ser)
c.233C>G (p.Thr78Ser)
c.116C>G (p.Thr39Ser)
c.222C>G
11g.71437909G=CA1981488048DHCR7c.866C= (p.Thr289=)
c.692C= (p.Thr231=)
c.917C= (p.Thr306=)
c.902C= (p.Thr301=)
n.906C=
c.281C= (p.Thr94=)
c.770C= (p.Thr257=)
c.233C= (p.Thr78=)
c.116C= (p.Thr39=)
c.222C=
11g.71437909G>TCA381703094DHCR7c.866C>A (p.Thr289Asn)
c.692C>A (p.Thr231Asn)
c.917C>A (p.Thr306Asn)
c.902C>A (p.Thr301Asn)
n.906C>A
c.281C>A (p.Thr94Asn)
c.770C>A (p.Thr257Asn)
c.233C>A (p.Thr78Asn)
c.116C>A (p.Thr39Asn)
c.222C>A
11g.71437911_71437927delCA1981488047DHCR7c.850_866del (p.Phe284LeufsTer7)
c.676_692del (p.Phe226LeufsTer7)
c.901_917del (p.Phe301LeufsTer7)
c.886_902del (p.Phe296LeufsTer7)
n.890_906del
c.265_281del (p.Phe89LeufsTer7)
c.754_770del (p.Phe252LeufsTer7)
c.217_233del (p.Phe73LeufsTer7)
c.754_770del (p.Phe252LeufsTer?)
c.100_116del (p.Phe34LeufsTer7)
c.206_222del
 dbSNP
11g.71437910T>ACA381703096DHCR7c.865A>T (p.Thr289Ser)
c.691A>T (p.Thr231Ser)
c.916A>T (p.Thr306Ser)
c.901A>T (p.Thr301Ser)
n.905A>T
c.280A>T (p.Thr94Ser)
c.769A>T (p.Thr257Ser)
c.232A>T (p.Thr78Ser)
c.115A>T (p.Thr39Ser)
c.221A>T
11g.71437910T>CCA381703097DHCR7c.865A>G (p.Thr289Ala)
c.691A>G (p.Thr231Ala)
c.916A>G (p.Thr306Ala)
c.901A>G (p.Thr301Ala)
n.905A>G
c.280A>G (p.Thr94Ala)
c.769A>G (p.Thr257Ala)
c.232A>G (p.Thr78Ala)
c.115A>G (p.Thr39Ala)
c.221A>G
11g.71437910T>GCA381703098DHCR7c.865A>C (p.Thr289Pro)
c.691A>C (p.Thr231Pro)
c.916A>C (p.Thr306Pro)
c.901A>C (p.Thr301Pro)
n.905A>C
c.280A>C (p.Thr94Pro)
c.769A>C (p.Thr257Pro)
c.232A>C (p.Thr78Pro)
c.115A>C (p.Thr39Pro)
c.221A>C
11g.71437911T>ACA381703099DHCR7c.864A>T (p.Glu288Asp)
c.690A>T (p.Glu230Asp)
c.915A>T (p.Glu305Asp)
c.900A>T (p.Glu300Asp)
n.904A>T
c.279A>T (p.Glu93Asp)
c.768A>T (p.Glu256Asp)
c.231A>T (p.Glu77Asp)
c.114A>T (p.Glu38Asp)
c.220A>T
11g.71437911T>CCA475567727DHCR7c.864A>G (p.Glu288=)
c.690A>G (p.Glu230=)
c.915A>G (p.Glu305=)
c.900A>G (p.Glu300=)
n.904A>G
c.279A>G (p.Glu93=)
c.768A>G (p.Glu256=)
c.231A>G (p.Glu77=)
c.114A>G (p.Glu38=)
c.220A>G
11g.71437911T>GCA381703100DHCR7c.864A>C (p.Glu288Asp)
c.690A>C (p.Glu230Asp)
c.915A>C (p.Glu305Asp)
c.900A>C (p.Glu300Asp)
n.904A>C
c.279A>C (p.Glu93Asp)
c.768A>C (p.Glu256Asp)
c.231A>C (p.Glu77Asp)
c.114A>C (p.Glu38Asp)
c.220A>C
11g.71437912T>ACA381703101DHCR7c.863A>T (p.Glu288Val)
c.689A>T (p.Glu230Val)
c.914A>T (p.Glu305Val)
c.899A>T (p.Glu300Val)
n.903A>T
c.278A>T (p.Glu93Val)
c.767A>T (p.Glu256Val)
c.230A>T (p.Glu77Val)
c.113A>T (p.Glu38Val)
c.219A>T
11g.71437912T>CCA381703102DHCR7c.863A>G (p.Glu288Gly)
c.689A>G (p.Glu230Gly)
c.914A>G (p.Glu305Gly)
c.899A>G (p.Glu300Gly)
n.903A>G
c.278A>G (p.Glu93Gly)
c.767A>G (p.Glu256Gly)
c.230A>G (p.Glu77Gly)
c.113A>G (p.Glu38Gly)
c.219A>G
11g.71437912T>GCA381703103DHCR7c.863A>C (p.Glu288Ala)
c.689A>C (p.Glu230Ala)
c.914A>C (p.Glu305Ala)
c.899A>C (p.Glu300Ala)
n.903A>C
c.278A>C (p.Glu93Ala)
c.767A>C (p.Glu256Ala)
c.230A>C (p.Glu77Ala)
c.113A>C (p.Glu38Ala)
c.219A>C
11g.71437913C>ACA381703104DHCR7c.862G>T (p.Glu288Ter)
c.688G>T (p.Glu230Ter)
c.913G>T (p.Glu305Ter)
c.898G>T (p.Glu300Ter)
n.902G>T
c.277G>T (p.Glu93Ter)
c.766G>T (p.Glu256Ter)
c.229G>T (p.Glu77Ter)
c.112G>T (p.Glu38Ter)
c.218G>T
 ClinVar
11g.71437913C=CA1981488049DHCR7c.862G= (p.Glu288=)
c.688G= (p.Glu230=)
c.913G= (p.Glu305=)
c.898G= (p.Glu300=)
n.902G=
c.277G= (p.Glu93=)
c.766G= (p.Glu256=)
c.229G= (p.Glu77=)
c.112G= (p.Glu38=)
c.218G=
11g.71437913C>GCA381703105DHCR7c.862G>C (p.Glu288Gln)
c.688G>C (p.Glu230Gln)
c.913G>C (p.Glu305Gln)
c.898G>C (p.Glu300Gln)
n.902G>C
c.277G>C (p.Glu93Gln)
c.766G>C (p.Glu256Gln)
c.229G>C (p.Glu77Gln)
c.112G>C (p.Glu38Gln)
c.218G>C
11g.71437913C>TCA6162412DHCR7c.862G>A (p.Glu288Lys)
c.688G>A (p.Glu230Lys)
c.913G>A (p.Glu305Lys)
c.898G>A (p.Glu300Lys)
n.902G>A
c.277G>A (p.Glu93Lys)
c.766G>A (p.Glu256Lys)
c.229G>A (p.Glu77Lys)
c.112G>A (p.Glu38Lys)
c.218G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71437914G>ACA224326679DHCR7c.861C>T (p.Asn287=)
c.687C>T (p.Asn229=)
c.912C>T (p.Asn304=)
c.897C>T (p.Asn299=)
n.901C>T
c.276C>T (p.Asn92=)
c.765C>T (p.Asn255=)
c.228C>T (p.Asn76=)
c.111C>T (p.Asn37=)
c.217C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71437914G>CCA381703106DHCR7c.861C>G (p.Asn287Lys)
c.687C>G (p.Asn229Lys)
c.912C>G (p.Asn304Lys)
c.897C>G (p.Asn299Lys)
n.901C>G
c.276C>G (p.Asn92Lys)
c.765C>G (p.Asn255Lys)
c.228C>G (p.Asn76Lys)
c.111C>G (p.Asn37Lys)
c.217C>G
11g.71437914G=CA1981488050DHCR7c.861C= (p.Asn287=)
c.687C= (p.Asn229=)
c.912C= (p.Asn304=)
c.897C= (p.Asn299=)
n.901C=
c.276C= (p.Asn92=)
c.765C= (p.Asn255=)
c.228C= (p.Asn76=)
c.111C= (p.Asn37=)
c.217C=
11g.71437914G>TCA6162413DHCR7c.861C>A (p.Asn287Lys)
c.687C>A (p.Asn229Lys)
c.912C>A (p.Asn304Lys)
c.897C>A (p.Asn299Lys)
n.901C>A
c.276C>A (p.Asn92Lys)
c.765C>A (p.Asn255Lys)
c.228C>A (p.Asn76Lys)
c.111C>A (p.Asn37Lys)
c.217C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437914_71437915insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCCA2614858481DHCR7c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.686_687insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn229delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.911_912insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn304delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.896_897insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn299delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
n.900_901insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT
c.275_276insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn92delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.764_765insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn255delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.227_228insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn76delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.110_111insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT (p.Asn37delinsLysAlaGlyArgValThrHisLeuMetThrThrThrAlaLeuLysValGlyAlaPheIle)
c.216_217insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT
 gnomAD v4
11g.71437915T>ACA381703108DHCR7c.860A>T (p.Asn287Ile)
c.686A>T (p.Asn229Ile)
c.911A>T (p.Asn304Ile)
c.896A>T (p.Asn299Ile)
n.900A>T
c.275A>T (p.Asn92Ile)
c.764A>T (p.Asn255Ile)
c.227A>T (p.Asn76Ile)
c.110A>T (p.Asn37Ile)
c.216A>T
11g.71437915T>CCA6162414DHCR7c.860A>G (p.Asn287Ser)
c.686A>G (p.Asn229Ser)
c.911A>G (p.Asn304Ser)
c.896A>G (p.Asn299Ser)
n.900A>G
c.275A>G (p.Asn92Ser)
c.764A>G (p.Asn255Ser)
c.227A>G (p.Asn76Ser)
c.110A>G (p.Asn37Ser)
c.216A>G
 dbSNP ExAC gnomAD v2
11g.71437915T>GCA381703107DHCR7c.860A>C (p.Asn287Thr)
c.686A>C (p.Asn229Thr)
c.911A>C (p.Asn304Thr)
c.896A>C (p.Asn299Thr)
n.900A>C
c.275A>C (p.Asn92Thr)
c.764A>C (p.Asn255Thr)
c.227A>C (p.Asn76Thr)
c.110A>C (p.Asn37Thr)
c.216A>C
11g.71437915T=CA1981488051DHCR7c.860A= (p.Asn287=)
c.686A= (p.Asn229=)
c.911A= (p.Asn304=)
c.896A= (p.Asn299=)
n.900A=
c.275A= (p.Asn92=)
c.764A= (p.Asn255=)
c.227A= (p.Asn76=)
c.110A= (p.Asn37=)
c.216A=
11g.71437916delCA2614858483DHCR7c.860del (p.Asn287ThrfsTer6)
c.686del (p.Asn229ThrfsTer6)
c.911del (p.Asn304ThrfsTer6)
c.896del (p.Asn299ThrfsTer6)
n.900del
c.275del (p.Asn92ThrfsTer6)
c.764del (p.Asn255ThrfsTer6)
c.227del (p.Asn76ThrfsTer6)
c.764del (p.Asn255ThrfsTer?)
c.110del (p.Asn37ThrfsTer6)
c.216del
 gnomAD v4
11g.71437916T>ACA381703109DHCR7c.859A>T (p.Asn287Tyr)
c.685A>T (p.Asn229Tyr)
c.910A>T (p.Asn304Tyr)
c.895A>T (p.Asn299Tyr)
n.899A>T
c.274A>T (p.Asn92Tyr)
c.763A>T (p.Asn255Tyr)
c.226A>T (p.Asn76Tyr)
c.109A>T (p.Asn37Tyr)
c.215A>T
11g.71437916T>CCA381703110DHCR7c.859A>G (p.Asn287Asp)
c.685A>G (p.Asn229Asp)
c.910A>G (p.Asn304Asp)
c.895A>G (p.Asn299Asp)
n.899A>G
c.274A>G (p.Asn92Asp)
c.763A>G (p.Asn255Asp)
c.226A>G (p.Asn76Asp)
c.109A>G (p.Asn37Asp)
c.215A>G
11g.71437916T>GCA381703111DHCR7c.859A>C (p.Asn287His)
c.685A>C (p.Asn229His)
c.910A>C (p.Asn304His)
c.895A>C (p.Asn299His)
n.899A>C
c.274A>C (p.Asn92His)
c.763A>C (p.Asn255His)
c.226A>C (p.Asn76His)
c.109A>C (p.Asn37His)
c.215A>C
11g.71437917C>ACA381703112DHCR7c.858G>T (p.Trp286Cys)
c.684G>T (p.Trp228Cys)
c.909G>T (p.Trp303Cys)
c.894G>T (p.Trp298Cys)
n.898G>T
c.273G>T (p.Trp91Cys)
c.762G>T (p.Trp254Cys)
c.225G>T (p.Trp75Cys)
c.108G>T (p.Trp36Cys)
c.214G>T
11g.71437917C=CA1981488052DHCR7c.858G= (p.Trp286=)
c.684G= (p.Trp228=)
c.909G= (p.Trp303=)
c.894G= (p.Trp298=)
n.898G=
c.273G= (p.Trp91=)
c.762G= (p.Trp254=)
c.225G= (p.Trp75=)
c.108G= (p.Trp36=)
c.214G=
11g.71437917C>GCA381703113DHCR7c.858G>C (p.Trp286Cys)
c.684G>C (p.Trp228Cys)
c.909G>C (p.Trp303Cys)
c.894G>C (p.Trp298Cys)
n.898G>C
c.273G>C (p.Trp91Cys)
c.762G>C (p.Trp254Cys)
c.225G>C (p.Trp75Cys)
c.108G>C (p.Trp36Cys)
c.214G>C
11g.71437917C>TCA381703114DHCR7c.858G>A (p.Trp286Ter)
c.684G>A (p.Trp228Ter)
c.909G>A (p.Trp303Ter)
c.894G>A (p.Trp298Ter)
n.898G>A
c.273G>A (p.Trp91Ter)
c.762G>A (p.Trp254Ter)
c.225G>A (p.Trp75Ter)
c.108G>A (p.Trp36Ter)
c.214G>A
 ClinVar dbSNP
11g.71437918C>ACA381703115DHCR7c.857G>T (p.Trp286Leu)
c.683G>T (p.Trp228Leu)
c.908G>T (p.Trp303Leu)
c.893G>T (p.Trp298Leu)
n.897G>T
c.272G>T (p.Trp91Leu)
c.761G>T (p.Trp254Leu)
c.224G>T (p.Trp75Leu)
c.107G>T (p.Trp36Leu)
c.213G>T
11g.71437918C>GCA381703116DHCR7c.857G>C (p.Trp286Ser)
c.683G>C (p.Trp228Ser)
c.908G>C (p.Trp303Ser)
c.893G>C (p.Trp298Ser)
n.897G>C
c.272G>C (p.Trp91Ser)
c.761G>C (p.Trp254Ser)
c.224G>C (p.Trp75Ser)
c.107G>C (p.Trp36Ser)
c.213G>C
11g.71437918C>TCA381703117DHCR7c.857G>A (p.Trp286Ter)
c.683G>A (p.Trp228Ter)
c.908G>A (p.Trp303Ter)
c.893G>A (p.Trp298Ter)
n.897G>A
c.272G>A (p.Trp91Ter)
c.761G>A (p.Trp254Ter)
c.224G>A (p.Trp75Ter)
c.107G>A (p.Trp36Ter)
c.213G>A
11g.71437918_71437921delinsCAGACA1981488053DHCR7c.854_857delinsTCTG (p.Phe285=)
c.680_683delinsTCTG (p.Phe227=)
c.905_908delinsTCTG (p.Phe302=)
c.890_893delinsTCTG (p.Phe297=)
n.894_897delinsTCTG
c.269_272delinsTCTG (p.Phe90=)
c.758_761delinsTCTG (p.Phe253=)
c.221_224delinsTCTG (p.Phe74=)
c.104_107delinsTCTG (p.Phe35=)
c.210_213delinsTCTG
11g.71437919A>CCA381703118DHCR7c.856T>G (p.Trp286Gly)
c.682T>G (p.Trp228Gly)
c.907T>G (p.Trp303Gly)
c.892T>G (p.Trp298Gly)
n.896T>G
c.271T>G (p.Trp91Gly)
c.760T>G (p.Trp254Gly)
c.223T>G (p.Trp75Gly)
c.106T>G (p.Trp36Gly)
c.212T>G
11g.71437919A>GCA381703119DHCR7c.856T>C (p.Trp286Arg)
c.682T>C (p.Trp228Arg)
c.907T>C (p.Trp303Arg)
c.892T>C (p.Trp298Arg)
n.896T>C
c.271T>C (p.Trp91Arg)
c.760T>C (p.Trp254Arg)
c.223T>C (p.Trp75Arg)
c.106T>C (p.Trp36Arg)
c.212T>C
11g.71437919A>TCA381703120DHCR7c.856T>A (p.Trp286Arg)
c.682T>A (p.Trp228Arg)
c.907T>A (p.Trp303Arg)
c.892T>A (p.Trp298Arg)
n.896T>A
c.271T>A (p.Trp91Arg)
c.760T>A (p.Trp254Arg)
c.223T>A (p.Trp75Arg)
c.106T>A (p.Trp36Arg)
c.212T>A
11g.71437924_71437926delCA600051913DHCR7c.854_856del (p.Phe285del)
c.680_682del (p.Phe227del)
c.905_907del (p.Phe302del)
c.890_892del (p.Phe297del)
n.894_896del
c.269_271del (p.Phe90del)
c.758_760del (p.Phe253del)
c.221_223del (p.Phe74del)
c.104_106del (p.Phe35del)
c.210_212del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71437920G>ACA6162415DHCR7c.855C>T (p.Phe285=)
c.681C>T (p.Phe227=)
c.906C>T (p.Phe302=)
c.891C>T (p.Phe297=)
n.895C>T
c.270C>T (p.Phe90=)
c.759C>T (p.Phe253=)
c.222C>T (p.Phe74=)
c.105C>T (p.Phe35=)
c.211C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71437920G>CCA381703121DHCR7c.855C>G (p.Phe285Leu)
c.681C>G (p.Phe227Leu)
c.906C>G (p.Phe302Leu)
c.891C>G (p.Phe297Leu)
n.895C>G
c.270C>G (p.Phe90Leu)
c.759C>G (p.Phe253Leu)
c.222C>G (p.Phe74Leu)
c.105C>G (p.Phe35Leu)
c.211C>G
11g.71437920G=CA1981488054DHCR7c.855C= (p.Phe285=)
c.681C= (p.Phe227=)
c.906C= (p.Phe302=)
c.891C= (p.Phe297=)
n.895C=
c.270C= (p.Phe90=)
c.759C= (p.Phe253=)
c.222C= (p.Phe74=)
c.105C= (p.Phe35=)
c.211C=
11g.71437920G>TCA381703122DHCR7c.855C>A (p.Phe285Leu)
c.681C>A (p.Phe227Leu)
c.906C>A (p.Phe302Leu)
c.891C>A (p.Phe297Leu)
n.895C>A
c.270C>A (p.Phe90Leu)
c.759C>A (p.Phe253Leu)
c.222C>A (p.Phe74Leu)
c.105C>A (p.Phe35Leu)
c.211C>A
 gnomAD v4
11g.71437921A>CCA381703123DHCR7c.854T>G (p.Phe285Cys)
c.680T>G (p.Phe227Cys)
c.905T>G (p.Phe302Cys)
c.890T>G (p.Phe297Cys)
n.894T>G
c.269T>G (p.Phe90Cys)
c.758T>G (p.Phe253Cys)
c.221T>G (p.Phe74Cys)
c.104T>G (p.Phe35Cys)
c.210T>G
11g.71437921A>GCA381703124DHCR7c.854T>C (p.Phe285Ser)
c.680T>C (p.Phe227Ser)
c.905T>C (p.Phe302Ser)
c.890T>C (p.Phe297Ser)
n.894T>C
c.269T>C (p.Phe90Ser)
c.758T>C (p.Phe253Ser)
c.221T>C (p.Phe74Ser)
c.104T>C (p.Phe35Ser)
c.210T>C
 gnomAD v4
11g.71437921A>TCA381703125DHCR7c.854T>A (p.Phe285Tyr)
c.680T>A (p.Phe227Tyr)
c.905T>A (p.Phe302Tyr)
c.890T>A (p.Phe297Tyr)
n.894T>A
c.269T>A (p.Phe90Tyr)
c.758T>A (p.Phe253Tyr)
c.221T>A (p.Phe74Tyr)
c.104T>A (p.Phe35Tyr)
c.210T>A
11g.71437922A>CCA381703126DHCR7c.853T>G (p.Phe285Val)
c.679T>G (p.Phe227Val)
c.904T>G (p.Phe302Val)
c.889T>G (p.Phe297Val)
n.893T>G
c.268T>G (p.Phe90Val)
c.757T>G (p.Phe253Val)
c.220T>G (p.Phe74Val)
c.103T>G (p.Phe35Val)
c.209T>G
11g.71437922A>GCA381703127DHCR7c.853T>C (p.Phe285Leu)
c.679T>C (p.Phe227Leu)
c.904T>C (p.Phe302Leu)
c.889T>C (p.Phe297Leu)
n.893T>C
c.268T>C (p.Phe90Leu)
c.757T>C (p.Phe253Leu)
c.220T>C (p.Phe74Leu)
c.103T>C (p.Phe35Leu)
c.209T>C
11g.71437922A>TCA381703128DHCR7c.853T>A (p.Phe285Ile)
c.679T>A (p.Phe227Ile)
c.904T>A (p.Phe302Ile)
c.889T>A (p.Phe297Ile)
n.893T>A
c.268T>A (p.Phe90Ile)
c.757T>A (p.Phe253Ile)
c.220T>A (p.Phe74Ile)
c.103T>A (p.Phe35Ile)
c.209T>A
11g.71437922_71437926dupCA2695212797DHCR7c.849_853dup (p.Phe285SerfsTer10)
c.675_679dup (p.Phe227SerfsTer10)
c.900_904dup (p.Phe302SerfsTer10)
c.885_889dup (p.Phe297SerfsTer10)
n.889_893dup
c.264_268dup (p.Phe90SerfsTer10)
c.753_757dup (p.Phe253SerfsTer10)
c.216_220dup (p.Phe74SerfsTer10)
c.753_757dup (p.Phe253SerfsTer?)
c.99_103dup (p.Phe35SerfsTer10)
c.205_209dup

Number of alleles fetched