Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71444042G>ACA381696213DHCR7c.272C>T (p.Pro91Leu)
c.98C>T (p.Pro33Leu)
n.549C>T
c.-314C>T (n.-314C>T)
c.176C>T (p.Pro59Leu)
c.212C>T (p.Pro71Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.71444042G>CCA381696215DHCR7c.272C>G (p.Pro91Arg)
c.98C>G (p.Pro33Arg)
n.549C>G
c.-314C>G (n.-314C>G)
c.176C>G (p.Pro59Arg)
c.212C>G (p.Pro71Arg)
11g.71444042G=CA1981491032DHCR7c.272C= (p.Pro91=)
c.98C= (p.Pro33=)
n.549C=
c.-314C= (n.-314C=)
c.176C= (p.Pro59=)
c.212C= (p.Pro71=)
11g.71444042G>TCA381696216DHCR7c.272C>A (p.Pro91His)
c.98C>A (p.Pro33His)
n.549C>A
c.-314C>A (n.-314C>A)
c.176C>A (p.Pro59His)
c.212C>A (p.Pro71His)
11g.71444043G>ACA381696218DHCR7c.271C>T (p.Pro91Ser)
c.97C>T (p.Pro33Ser)
n.548C>T
c.-315C>T (n.-315C>T)
c.175C>T (p.Pro59Ser)
c.211C>T (p.Pro71Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444043G>CCA381696221DHCR7c.271C>G (p.Pro91Ala)
c.97C>G (p.Pro33Ala)
n.548C>G
c.-315C>G (n.-315C>G)
c.175C>G (p.Pro59Ala)
c.211C>G (p.Pro71Ala)
11g.71444043G=CA1981491033DHCR7c.271C= (p.Pro91=)
c.97C= (p.Pro33=)
n.548C=
c.-315C= (n.-315C=)
c.175C= (p.Pro59=)
c.211C= (p.Pro71=)
11g.71444043G>TCA381696220DHCR7c.271C>A (p.Pro91Thr)
c.97C>A (p.Pro33Thr)
n.548C>A
c.-315C>A (n.-315C>A)
c.175C>A (p.Pro59Thr)
c.211C>A (p.Pro71Thr)
11g.71444044T>ACA475520258DHCR7c.270A>T (p.Pro90=)
c.96A>T (p.Pro32=)
n.547A>T
c.-316A>T (n.-316A>T)
c.174A>T (p.Pro58=)
c.210A>T (p.Pro70=)
11g.71444044T>CCA475520261DHCR7c.270A>G (p.Pro90=)
c.96A>G (p.Pro32=)
n.547A>G
c.-316A>G (n.-316A>G)
c.174A>G (p.Pro58=)
c.210A>G (p.Pro70=)
 ClinVar dbSNP
11g.71444044T>GCA475520264DHCR7c.270A>C (p.Pro90=)
c.96A>C (p.Pro32=)
n.547A>C
c.-316A>C (n.-316A>C)
c.174A>C (p.Pro58=)
c.210A>C (p.Pro70=)
11g.71444044T=CA1981491034DHCR7c.270A= (p.Pro90=)
c.96A= (p.Pro32=)
n.547A=
c.-316A= (n.-316A=)
c.174A= (p.Pro58=)
c.210A= (p.Pro70=)
11g.71444045G>ACA381696223DHCR7c.269C>T (p.Pro90Leu)
c.95C>T (p.Pro32Leu)
n.546C>T
c.-317C>T (n.-317C>T)
c.173C>T (p.Pro58Leu)
c.209C>T (p.Pro70Leu)
11g.71444045G>CCA381696225DHCR7c.269C>G (p.Pro90Arg)
c.95C>G (p.Pro32Arg)
n.546C>G
c.-317C>G (n.-317C>G)
c.173C>G (p.Pro58Arg)
c.209C>G (p.Pro70Arg)
11g.71444045G>TCA381696227DHCR7c.269C>A (p.Pro90Gln)
c.95C>A (p.Pro32Gln)
n.546C>A
c.-317C>A (n.-317C>A)
c.173C>A (p.Pro58Gln)
c.209C>A (p.Pro70Gln)
11g.71444046G>ACA6162649DHCR7c.268C>T (p.Pro90Ser)
c.94C>T (p.Pro32Ser)
n.545C>T
c.-318C>T (n.-318C>T)
c.172C>T (p.Pro58Ser)
c.208C>T (p.Pro70Ser)
 dbSNP ExAC gnomAD v2
11g.71444046G>CCA381696230DHCR7c.268C>G (p.Pro90Ala)
c.94C>G (p.Pro32Ala)
n.545C>G
c.-318C>G (n.-318C>G)
c.172C>G (p.Pro58Ala)
c.208C>G (p.Pro70Ala)
11g.71444046G=CA1981491035DHCR7c.268C= (p.Pro90=)
c.94C= (p.Pro32=)
n.545C=
c.-318C= (n.-318C=)
c.172C= (p.Pro58=)
c.208C= (p.Pro70=)
11g.71444046G>TCA381696234DHCR7c.268C>A (p.Pro90Thr)
c.94C>A (p.Pro32Thr)
n.545C>A
c.-318C>A (n.-318C>A)
c.172C>A (p.Pro58Thr)
c.208C>A (p.Pro70Thr)
11g.71444047A=CA1981491036DHCR7c.267T= (p.Thr89=)
c.93T= (p.Thr31=)
n.544T=
c.-319T= (n.-319T=)
c.171T= (p.Thr57=)
c.207T= (p.Thr69=)
11g.71444047A>CCA475520277DHCR7c.267T>G (p.Thr89=)
c.93T>G (p.Thr31=)
n.544T>G
c.-319T>G (n.-319T>G)
c.171T>G (p.Thr57=)
c.207T>G (p.Thr69=)
 gnomAD v4
11g.71444047A>GCA6162650DHCR7c.267T>C (p.Thr89=)
c.93T>C (p.Thr31=)
n.544T>C
c.-319T>C (n.-319T>C)
c.171T>C (p.Thr57=)
c.207T>C (p.Thr69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444047A>TCA475520280DHCR7c.267T>A (p.Thr89=)
c.93T>A (p.Thr31=)
n.544T>A
c.-319T>A (n.-319T>A)
c.171T>A (p.Thr57=)
c.207T>A (p.Thr69=)
 dbSNP
11g.71444048delCA2697548793DHCR7c.266del (p.Thr89IlefsTer4)
c.92del (p.Thr31IlefsTer4)
n.543del
c.-320del (n.-320del)
c.170del (p.Thr57IlefsTer4)
c.266del (p.Thr89IlefsTer?)
c.206del (p.Thr69IlefsTer4)
 ClinVar
11g.71444048G>ACA381696237DHCR7c.266C>T (p.Thr89Ile)
c.92C>T (p.Thr31Ile)
n.543C>T
c.-320C>T (n.-320C>T)
c.170C>T (p.Thr57Ile)
c.206C>T (p.Thr69Ile)
11g.71444048G>CCA381696238DHCR7c.266C>G (p.Thr89Ser)
c.92C>G (p.Thr31Ser)
n.543C>G
c.-320C>G (n.-320C>G)
c.170C>G (p.Thr57Ser)
c.206C>G (p.Thr69Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.71444048G=CA1981491037DHCR7c.266C= (p.Thr89=)
c.92C= (p.Thr31=)
n.543C=
c.-320C= (n.-320C=)
c.170C= (p.Thr57=)
c.206C= (p.Thr69=)
11g.71444048G>TCA381696240DHCR7c.266C>A (p.Thr89Asn)
c.92C>A (p.Thr31Asn)
n.543C>A
c.-320C>A (n.-320C>A)
c.170C>A (p.Thr57Asn)
c.206C>A (p.Thr69Asn)
11g.71444049T>ACA224280811DHCR7c.265A>T (p.Thr89Ser)
c.91A>T (p.Thr31Ser)
n.542A>T
c.-321A>T (n.-321A>T)
c.169A>T (p.Thr57Ser)
c.205A>T (p.Thr69Ser)
 dbSNP
11g.71444049T>CCA224280813DHCR7c.265A>G (p.Thr89Ala)
c.91A>G (p.Thr31Ala)
n.542A>G
c.-321A>G (n.-321A>G)
c.169A>G (p.Thr57Ala)
c.205A>G (p.Thr69Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.71444049T>GCA381696243DHCR7c.265A>C (p.Thr89Pro)
c.91A>C (p.Thr31Pro)
n.542A>C
c.-321A>C (n.-321A>C)
c.169A>C (p.Thr57Pro)
c.205A>C (p.Thr69Pro)
11g.71444049T=CA1981491038DHCR7c.265A= (p.Thr89=)
c.91A= (p.Thr31=)
n.542A=
c.-321A= (n.-321A=)
c.169A= (p.Thr57=)
c.205A= (p.Thr69=)
11g.71444050C>ACA381696248DHCR7c.264G>T (p.Lys88Asn)
c.90G>T (p.Lys30Asn)
n.541G>T
c.-322G>T (n.-322G>T)
c.168G>T (p.Lys56Asn)
c.204G>T (p.Lys68Asn)
11g.71444050C>GCA381696250DHCR7c.264G>C (p.Lys88Asn)
c.90G>C (p.Lys30Asn)
n.541G>C
c.-322G>C (n.-322G>C)
c.168G>C (p.Lys56Asn)
c.204G>C (p.Lys68Asn)
 COSMIC COSMIC
11g.71444050C>TCA475520307DHCR7c.264G>A (p.Lys88=)
c.90G>A (p.Lys30=)
n.541G>A
c.-322G>A (n.-322G>A)
c.168G>A (p.Lys56=)
c.204G>A (p.Lys68=)
11g.71444051T>ACA381696251DHCR7c.263A>T (p.Lys88Met)
c.89A>T (p.Lys30Met)
n.540A>T
c.-323A>T (n.-323A>T)
c.167A>T (p.Lys56Met)
c.203A>T (p.Lys68Met)
11g.71444051T>CCA381696253DHCR7c.263A>G (p.Lys88Arg)
c.89A>G (p.Lys30Arg)
n.540A>G
c.-323A>G (n.-323A>G)
c.167A>G (p.Lys56Arg)
c.203A>G (p.Lys68Arg)
 COSMIC COSMIC
11g.71444051T>GCA381696254DHCR7c.263A>C (p.Lys88Thr)
c.89A>C (p.Lys30Thr)
n.540A>C
c.-323A>C (n.-323A>C)
c.167A>C (p.Lys56Thr)
c.203A>C (p.Lys68Thr)
11g.71444052T>ACA381696259DHCR7c.262A>T (p.Lys88Ter)
c.88A>T (p.Lys30Ter)
n.539A>T
c.-324A>T (n.-324A>T)
c.166A>T (p.Lys56Ter)
c.202A>T (p.Lys68Ter)
11g.71444052T>CCA381696258DHCR7c.262A>G (p.Lys88Glu)
c.88A>G (p.Lys30Glu)
n.539A>G
c.-324A>G (n.-324A>G)
c.166A>G (p.Lys56Glu)
c.202A>G (p.Lys68Glu)
 gnomAD v4
11g.71444052T>GCA381696257DHCR7c.262A>C (p.Lys88Gln)
c.88A>C (p.Lys30Gln)
n.539A>C
c.-324A>C (n.-324A>C)
c.166A>C (p.Lys56Gln)
c.202A>C (p.Lys68Gln)
11g.71444053G>ACA475520320DHCR7c.261C>T (p.Ala87=)
c.87C>T (p.Ala29=)
n.538C>T
c.-325C>T (n.-325C>T)
c.165C>T (p.Ala55=)
c.201C>T (p.Ala67=)
11g.71444053G>CCA475520322DHCR7c.261C>G (p.Ala87=)
c.87C>G (p.Ala29=)
n.538C>G
c.-325C>G (n.-325C>G)
c.165C>G (p.Ala55=)
c.201C>G (p.Ala67=)
11g.71444053G=CA1981491039DHCR7c.261C= (p.Ala87=)
c.87C= (p.Ala29=)
n.538C=
c.-325C= (n.-325C=)
c.165C= (p.Ala55=)
c.201C= (p.Ala67=)
11g.71444053G>TCA475520325DHCR7c.261C>A (p.Ala87=)
c.87C>A (p.Ala29=)
n.538C>A
c.-325C>A (n.-325C>A)
c.165C>A (p.Ala55=)
c.201C>A (p.Ala67=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444054G>ACA381696262DHCR7c.260C>T (p.Ala87Val)
c.86C>T (p.Ala29Val)
n.537C>T
c.-326C>T (n.-326C>T)
c.164C>T (p.Ala55Val)
c.200C>T (p.Ala67Val)
 gnomAD v4
11g.71444054G>CCA381696263DHCR7c.260C>G (p.Ala87Gly)
c.86C>G (p.Ala29Gly)
n.537C>G
c.-326C>G (n.-326C>G)
c.164C>G (p.Ala55Gly)
c.200C>G (p.Ala67Gly)
11g.71444054G>TCA381696265DHCR7c.260C>A (p.Ala87Asp)
c.86C>A (p.Ala29Asp)
n.537C>A
c.-326C>A (n.-326C>A)
c.164C>A (p.Ala55Asp)
c.200C>A (p.Ala67Asp)
11g.71444055C>ACA381696266DHCR7c.259G>T (p.Ala87Ser)
c.85G>T (p.Ala29Ser)
n.536G>T
c.-327G>T (n.-327G>T)
c.163G>T (p.Ala55Ser)
c.199G>T (p.Ala67Ser)
11g.71444055C>GCA381696267DHCR7c.259G>C (p.Ala87Pro)
c.85G>C (p.Ala29Pro)
n.536G>C
c.-327G>C (n.-327G>C)
c.163G>C (p.Ala55Pro)
c.199G>C (p.Ala67Pro)
11g.71444055C>TCA381696268DHCR7c.259G>A (p.Ala87Thr)
c.85G>A (p.Ala29Thr)
n.536G>A
c.-327G>A (n.-327G>A)
c.163G>A (p.Ala55Thr)
c.199G>A (p.Ala67Thr)
11g.71444056C>ACA381696271DHCR7c.258G>T (p.Trp86Cys)
c.84G>T (p.Trp28Cys)
n.535G>T
c.-328G>T (n.-328G>T)
c.162G>T (p.Trp54Cys)
c.198G>T (p.Trp66Cys)
11g.71444056C>GCA381696274DHCR7c.258G>C (p.Trp86Cys)
c.84G>C (p.Trp28Cys)
n.535G>C
c.-328G>C (n.-328G>C)
c.162G>C (p.Trp54Cys)
c.198G>C (p.Trp66Cys)
11g.71444056C>TCA381696273DHCR7c.258G>A (p.Trp86Ter)
c.84G>A (p.Trp28Ter)
n.535G>A
c.-328G>A (n.-328G>A)
c.162G>A (p.Trp54Ter)
c.198G>A (p.Trp66Ter)
11g.71444057C>ACA381696276DHCR7c.257G>T (p.Trp86Leu)
c.83G>T (p.Trp28Leu)
n.534G>T
c.-329G>T (n.-329G>T)
c.161G>T (p.Trp54Leu)
c.197G>T (p.Trp66Leu)
11g.71444057C>GCA381696278DHCR7c.257G>C (p.Trp86Ser)
c.83G>C (p.Trp28Ser)
n.534G>C
c.-329G>C (n.-329G>C)
c.161G>C (p.Trp54Ser)
c.197G>C (p.Trp66Ser)
11g.71444057C>TCA381696279DHCR7c.257G>A (p.Trp86Ter)
c.83G>A (p.Trp28Ter)
n.534G>A
c.-329G>A (n.-329G>A)
c.161G>A (p.Trp54Ter)
c.197G>A (p.Trp66Ter)
11g.71444058A>CCA381696281DHCR7c.256T>G (p.Trp86Gly)
c.82T>G (p.Trp28Gly)
n.533T>G
c.-330T>G (n.-330T>G)
c.160T>G (p.Trp54Gly)
c.196T>G (p.Trp66Gly)
11g.71444058A>GCA381696283DHCR7c.256T>C (p.Trp86Arg)
c.82T>C (p.Trp28Arg)
n.533T>C
c.-330T>C (n.-330T>C)
c.160T>C (p.Trp54Arg)
c.196T>C (p.Trp66Arg)
11g.71444058A>TCA381696285DHCR7c.256T>A (p.Trp86Arg)
c.82T>A (p.Trp28Arg)
n.533T>A
c.-330T>A (n.-330T>A)
c.160T>A (p.Trp54Arg)
c.196T>A (p.Trp66Arg)
11g.71444059G>ACA224280815DHCR7c.255C>T (p.Ile85=)
c.81C>T (p.Ile27=)
n.532C>T
c.-331C>T (n.-331C>T)
c.159C>T (p.Ile53=)
c.195C>T (p.Ile65=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444059G>CCA381696287DHCR7c.255C>G (p.Ile85Met)
c.81C>G (p.Ile27Met)
n.532C>G
c.-331C>G (n.-331C>G)
c.159C>G (p.Ile53Met)
c.195C>G (p.Ile65Met)
11g.71444059G=CA1981491040DHCR7c.255C= (p.Ile85=)
c.81C= (p.Ile27=)
n.532C=
c.-331C= (n.-331C=)
c.159C= (p.Ile53=)
c.195C= (p.Ile65=)
11g.71444059G>TCA475520363DHCR7c.255C>A (p.Ile85=)
c.81C>A (p.Ile27=)
n.532C>A
c.-331C>A (n.-331C>A)
c.159C>A (p.Ile53=)
c.195C>A (p.Ile65=)
11g.71444060A>CCA381696290DHCR7c.254T>G (p.Ile85Ser)
c.80T>G (p.Ile27Ser)
n.531T>G
c.-332T>G (n.-332T>G)
c.158T>G (p.Ile53Ser)
c.194T>G (p.Ile65Ser)
 COSMIC COSMIC
11g.71444060A>GCA381696292DHCR7c.254T>C (p.Ile85Thr)
c.80T>C (p.Ile27Thr)
n.531T>C
c.-332T>C (n.-332T>C)
c.158T>C (p.Ile53Thr)
c.194T>C (p.Ile65Thr)
11g.71444060A>TCA381696295DHCR7c.254T>A (p.Ile85Asn)
c.80T>A (p.Ile27Asn)
n.531T>A
c.-332T>A (n.-332T>A)
c.158T>A (p.Ile53Asn)
c.194T>A (p.Ile65Asn)
11g.71444061T>ACA381696303DHCR7c.253A>T (p.Ile85Phe)
c.79A>T (p.Ile27Phe)
n.530A>T
c.-333A>T (n.-333A>T)
c.157A>T (p.Ile53Phe)
c.193A>T (p.Ile65Phe)
11g.71444061T>CCA381696299DHCR7c.253A>G (p.Ile85Val)
c.79A>G (p.Ile27Val)
n.530A>G
c.-333A>G (n.-333A>G)
c.157A>G (p.Ile53Val)
c.193A>G (p.Ile65Val)
 gnomAD v4
11g.71444061T>GCA381696297DHCR7c.253A>C (p.Ile85Leu)
c.79A>C (p.Ile27Leu)
n.530A>C
c.-333A>C (n.-333A>C)
c.157A>C (p.Ile53Leu)
c.193A>C (p.Ile65Leu)
11g.71444062G>ACA6162651DHCR7c.252C>T (p.Asp84=)
c.78C>T (p.Asp26=)
n.529C>T
c.-333-1C>T (n.-333-1C>T)
c.156C>T (p.Asp52=)
c.192C>T (p.Asp64=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444062G>CCA381696309DHCR7c.252C>G (p.Asp84Glu)
c.78C>G (p.Asp26Glu)
n.529C>G
c.-333-1C>G (n.-333-1C>G)
c.156C>G (p.Asp52Glu)
c.192C>G (p.Asp64Glu)
11g.71444062G=CA1981491041DHCR7c.252C= (p.Asp84=)
c.78C= (p.Asp26=)
n.529C=
c.-333-1C= (n.-333-1C=)
c.156C= (p.Asp52=)
c.192C= (p.Asp64=)
11g.71444062G>TCA381696306DHCR7c.252C>A (p.Asp84Glu)
c.78C>A (p.Asp26Glu)
n.529C>A
c.-333-1C>A (n.-333-1C>A)
c.156C>A (p.Asp52Glu)
c.192C>A (p.Asp64Glu)
11g.71444063T>ACA381696312DHCR7c.251A>T (p.Asp84Val)
c.77A>T (p.Asp26Val)
n.528A>T
c.-333-2A>T (n.-333-2A>T)
c.155A>T (p.Asp52Val)
c.191A>T (p.Asp64Val)
11g.71444063T>CCA6162652DHCR7c.251A>G (p.Asp84Gly)
c.77A>G (p.Asp26Gly)
n.528A>G
c.-333-2A>G (n.-333-2A>G)
c.155A>G (p.Asp52Gly)
c.191A>G (p.Asp64Gly)
 dbSNP ExAC
11g.71444063T>GCA381696314DHCR7c.251A>C (p.Asp84Ala)
c.77A>C (p.Asp26Ala)
n.528A>C
c.-333-2A>C (n.-333-2A>C)
c.155A>C (p.Asp52Ala)
c.191A>C (p.Asp64Ala)
11g.71444063T=CA1981491042DHCR7c.251A= (p.Asp84=)
c.77A= (p.Asp26=)
n.528A=
c.-333-2A= (n.-333-2A=)
c.155A= (p.Asp52=)
c.191A= (p.Asp64=)
11g.71444064C>ACA381696318DHCR7c.250G>T (p.Asp84Tyr)
c.76G>T (p.Asp26Tyr)
n.527G>T
c.-333-3G>T (n.-333-3G>T)
c.154G>T (p.Asp52Tyr)
c.190G>T (p.Asp64Tyr)
11g.71444064C>GCA381696322DHCR7c.250G>C (p.Asp84His)
c.76G>C (p.Asp26His)
n.527G>C
c.-333-3G>C (n.-333-3G>C)
c.154G>C (p.Asp52His)
c.190G>C (p.Asp64His)
11g.71444064C>TCA381696320DHCR7c.250G>A (p.Asp84Asn)
c.76G>A (p.Asp26Asn)
n.527G>A
c.-333-3G>A (n.-333-3G>A)
c.154G>A (p.Asp52Asn)
c.190G>A (p.Asp64Asn)
11g.71444065C>ACA475520395DHCR7c.249G>T (p.Ser83=)
c.75G>T (p.Ser25=)
n.526G>T
c.-333-4G>T (n.-333-4G>T)
c.153G>T (p.Ser51=)
c.189G>T (p.Ser63=)
 dbSNP
11g.71444065C=CA1981491043DHCR7c.249G= (p.Ser83=)
c.75G= (p.Ser25=)
n.526G=
c.-333-4G= (n.-333-4G=)
c.153G= (p.Ser51=)
c.189G= (p.Ser63=)
11g.71444065C>GCA475520392DHCR7c.249G>C (p.Ser83=)
c.75G>C (p.Ser25=)
n.526G>C
c.-333-4G>C (n.-333-4G>C)
c.153G>C (p.Ser51=)
c.189G>C (p.Ser63=)
11g.71444065C>TCA6162653DHCR7c.249G>A (p.Ser83=)
c.75G>A (p.Ser25=)
n.526G>A
c.-333-4G>A (n.-333-4G>A)
c.153G>A (p.Ser51=)
c.189G>A (p.Ser63=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444066G>ACA6162654DHCR7c.248C>T (p.Ser83Leu)
c.74C>T (p.Ser25Leu)
n.525C>T
c.-333-5C>T (n.-333-5C>T)
c.152C>T (p.Ser51Leu)
c.188C>T (p.Ser63Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71444066G>CCA381696326DHCR7c.248C>G (p.Ser83Trp)
c.74C>G (p.Ser25Trp)
n.525C>G
c.-333-5C>G (n.-333-5C>G)
c.152C>G (p.Ser51Trp)
c.188C>G (p.Ser63Trp)
11g.71444066G=CA1981491044DHCR7c.248C= (p.Ser83=)
c.74C= (p.Ser25=)
n.525C=
c.-333-5C= (n.-333-5C=)
c.152C= (p.Ser51=)
c.188C= (p.Ser63=)
11g.71444066G>TCA381696328DHCR7c.248C>A (p.Ser83Ter)
c.74C>A (p.Ser25Ter)
n.525C>A
c.-333-5C>A (n.-333-5C>A)
c.152C>A (p.Ser51Ter)
c.188C>A (p.Ser63Ter)
 ClinVar
11g.71444067A>CCA381696331DHCR7c.247T>G (p.Ser83Ala)
c.73T>G (p.Ser25Ala)
n.524T>G
c.-333-6T>G (n.-333-6T>G)
c.151T>G (p.Ser51Ala)
c.187T>G (p.Ser63Ala)
11g.71444067A>GCA381696333DHCR7c.247T>C (p.Ser83Pro)
c.73T>C (p.Ser25Pro)
n.524T>C
c.-333-6T>C (n.-333-6T>C)
c.151T>C (p.Ser51Pro)
c.187T>C (p.Ser63Pro)
11g.71444067A>TCA381696335DHCR7c.247T>A (p.Ser83Thr)
c.73T>A (p.Ser25Thr)
n.524T>A
c.-333-6T>A (n.-333-6T>A)
c.151T>A (p.Ser51Thr)
c.187T>A (p.Ser63Thr)
11g.71444068G>ACA475520410DHCR7c.246C>T (p.Leu82=)
c.72C>T (p.Leu24=)
n.523C>T
c.-333-7C>T (n.-333-7C>T)
c.150C>T (p.Leu50=)
c.186C>T (p.Leu62=)
11g.71444068G>CCA475520415DHCR7c.246C>G (p.Leu82=)
c.72C>G (p.Leu24=)
n.523C>G
c.-333-7C>G (n.-333-7C>G)
c.150C>G (p.Leu50=)
c.186C>G (p.Leu62=)
 ClinVar dbSNP gnomAD v4
11g.71444068G>TCA475520412DHCR7c.246C>A (p.Leu82=)
c.72C>A (p.Leu24=)
n.523C>A
c.-333-7C>A (n.-333-7C>A)
c.150C>A (p.Leu50=)
c.186C>A (p.Leu62=)
 gnomAD v4
11g.71444069A>CCA381696339DHCR7c.245T>G (p.Leu82Arg)
c.71T>G (p.Leu24Arg)
n.522T>G
c.-333-8T>G (n.-333-8T>G)
c.149T>G (p.Leu50Arg)
c.185T>G (p.Leu62Arg)
11g.71444069A>GCA381696341DHCR7c.245T>C (p.Leu82Pro)
c.71T>C (p.Leu24Pro)
n.522T>C
c.-333-8T>C (n.-333-8T>C)
c.149T>C (p.Leu50Pro)
c.185T>C (p.Leu62Pro)
11g.71444069A>TCA381696343DHCR7c.245T>A (p.Leu82His)
c.71T>A (p.Leu24His)
n.522T>A
c.-333-8T>A (n.-333-8T>A)
c.149T>A (p.Leu50His)
c.185T>A (p.Leu62His)
11g.71444070G>ACA224280824DHCR7c.244C>T (p.Leu82Phe)
c.70C>T (p.Leu24Phe)
n.521C>T
c.-333-9C>T (n.-333-9C>T)
c.148C>T (p.Leu50Phe)
c.184C>T (p.Leu62Phe)
 dbSNP
11g.71444070G>CCA381696347DHCR7c.244C>G (p.Leu82Val)
c.70C>G (p.Leu24Val)
n.521C>G
c.-333-9C>G (n.-333-9C>G)
c.148C>G (p.Leu50Val)
c.184C>G (p.Leu62Val)
11g.71444070G=CA1981491045DHCR7c.244C= (p.Leu82=)
c.70C= (p.Leu24=)
n.521C=
c.-333-9C= (n.-333-9C=)
c.148C= (p.Leu50=)
c.184C= (p.Leu62=)
11g.71444070G>TCA381696345DHCR7c.244C>A (p.Leu82Ile)
c.70C>A (p.Leu24Ile)
n.521C>A
c.-333-9C>A (n.-333-9C>A)
c.148C>A (p.Leu50Ile)
c.184C>A (p.Leu62Ile)
11g.71444071C>ACA475520425DHCR7c.243G>T (p.Arg81=)
c.69G>T (p.Arg23=)
n.520G>T
c.-333-10G>T (n.-333-10G>T)
c.147G>T (p.Arg49=)
c.183G>T (p.Arg61=)
 gnomAD v4
11g.71444071C>GCA475520426DHCR7c.243G>C (p.Arg81=)
c.69G>C (p.Arg23=)
n.520G>C
c.-333-10G>C (n.-333-10G>C)
c.147G>C (p.Arg49=)
c.183G>C (p.Arg61=)
11g.71444071C>TCA475520429DHCR7c.243G>A (p.Arg81=)
c.69G>A (p.Arg23=)
n.520G>A
c.-333-10G>A (n.-333-10G>A)
c.147G>A (p.Arg49=)
c.183G>A (p.Arg61=)
 gnomAD v4
11g.71444072C>ACA381696351DHCR7c.242G>T (p.Arg81Leu)
c.68G>T (p.Arg23Leu)
n.519G>T
c.-333-11G>T (n.-333-11G>T)
c.146G>T (p.Arg49Leu)
c.182G>T (p.Arg61Leu)
 gnomAD v4
11g.71444072C=CA1981491046DHCR7c.242G= (p.Arg81=)
c.68G= (p.Arg23=)
n.519G=
c.-333-11G= (n.-333-11G=)
c.146G= (p.Arg49=)
c.182G= (p.Arg61=)
11g.71444072C>GCA381696353DHCR7c.242G>C (p.Arg81Pro)
c.68G>C (p.Arg23Pro)
n.519G>C
c.-333-11G>C (n.-333-11G>C)
c.146G>C (p.Arg49Pro)
c.182G>C (p.Arg61Pro)
11g.71444072C>TCA6162655DHCR7c.242G>A (p.Arg81Gln)
c.68G>A (p.Arg23Gln)
n.519G>A
c.-333-11G>A (n.-333-11G>A)
c.146G>A (p.Arg49Gln)
c.182G>A (p.Arg61Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444073G>ACA6162656DHCR7c.241C>T (p.Arg81Trp)
c.67C>T (p.Arg23Trp)
n.518C>T
c.-333-12C>T (n.-333-12C>T)
c.145C>T (p.Arg49Trp)
c.181C>T (p.Arg61Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444073G>CCA6162657DHCR7c.241C>G (p.Arg81Gly)
c.67C>G (p.Arg23Gly)
n.518C>G
c.-333-12C>G (n.-333-12C>G)
c.145C>G (p.Arg49Gly)
c.181C>G (p.Arg61Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444073G=CA1981491047DHCR7c.241C= (p.Arg81=)
c.67C= (p.Arg23=)
n.518C=
c.-333-12C= (n.-333-12C=)
c.145C= (p.Arg49=)
c.181C= (p.Arg61=)
11g.71444073G>TCA475520438DHCR7c.241C>A (p.Arg81=)
c.67C>A (p.Arg23=)
n.518C>A
c.-333-12C>A (n.-333-12C>A)
c.145C>A (p.Arg49=)
c.181C>A (p.Arg61=)
11g.71444074A>CCA475520447DHCR7c.240T>G (p.Ala80=)
c.66T>G (p.Ala22=)
n.517T>G
c.-333-13T>G (n.-333-13T>G)
c.144T>G (p.Ala48=)
c.180T>G (p.Ala60=)
11g.71444074A>GCA475520448DHCR7c.240T>C (p.Ala80=)
c.66T>C (p.Ala22=)
n.517T>C
c.-333-13T>C (n.-333-13T>C)
c.144T>C (p.Ala48=)
c.180T>C (p.Ala60=)
11g.71444074A>TCA475520451DHCR7c.240T>A (p.Ala80=)
c.66T>A (p.Ala22=)
n.517T>A
c.-333-13T>A (n.-333-13T>A)
c.144T>A (p.Ala48=)
c.180T>A (p.Ala60=)
11g.71444075G>ACA381696356DHCR7c.239C>T (p.Ala80Val)
c.65C>T (p.Ala22Val)
n.516C>T
c.-333-14C>T (n.-333-14C>T)
c.143C>T (p.Ala48Val)
c.179C>T (p.Ala60Val)
 ClinVar dbSNP COSMIC COSMIC
11g.71444075G>CCA381696358DHCR7c.239C>G (p.Ala80Gly)
c.65C>G (p.Ala22Gly)
n.516C>G
c.-333-14C>G (n.-333-14C>G)
c.143C>G (p.Ala48Gly)
c.179C>G (p.Ala60Gly)
11g.71444075G=CA1981491048DHCR7c.239C= (p.Ala80=)
c.65C= (p.Ala22=)
n.516C=
c.-333-14C= (n.-333-14C=)
c.143C= (p.Ala48=)
c.179C= (p.Ala60=)
11g.71444075G>TCA381696359DHCR7c.239C>A (p.Ala80Asp)
c.65C>A (p.Ala22Asp)
n.516C>A
c.-333-14C>A (n.-333-14C>A)
c.143C>A (p.Ala48Asp)
c.179C>A (p.Ala60Asp)
 gnomAD v4
11g.71444076C>ACA381696362DHCR7c.238G>T (p.Ala80Ser)
c.64G>T (p.Ala22Ser)
n.515G>T
c.-333-15G>T (n.-333-15G>T)
c.142G>T (p.Ala48Ser)
c.178G>T (p.Ala60Ser)
11g.71444076C>GCA381696364DHCR7c.238G>C (p.Ala80Pro)
c.64G>C (p.Ala22Pro)
n.515G>C
c.-333-15G>C (n.-333-15G>C)
c.142G>C (p.Ala48Pro)
c.178G>C (p.Ala60Pro)
11g.71444076C>TCA381696366DHCR7c.238G>A (p.Ala80Thr)
c.64G>A (p.Ala22Thr)
n.515G>A
c.-333-15G>A (n.-333-15G>A)
c.142G>A (p.Ala48Thr)
c.178G>A (p.Ala60Thr)
11g.71444077A=CA1981491049DHCR7c.237T= (p.His79=)
c.63T= (p.His21=)
n.514T=
c.-333-16T= (n.-333-16T=)
c.141T= (p.His47=)
c.177T= (p.His59=)
11g.71444077A>CCA381696370DHCR7c.237T>G (p.His79Gln)
c.63T>G (p.His21Gln)
n.514T>G
c.-333-16T>G (n.-333-16T>G)
c.141T>G (p.His47Gln)
c.177T>G (p.His59Gln)
11g.71444077A>GCA475520468DHCR7c.237T>C (p.His79=)
c.63T>C (p.His21=)
n.514T>C
c.-333-16T>C (n.-333-16T>C)
c.141T>C (p.His47=)
c.177T>C (p.His59=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71444077A>TCA381696368DHCR7c.237T>A (p.His79Gln)
c.63T>A (p.His21Gln)
n.514T>A
c.-333-16T>A (n.-333-16T>A)
c.141T>A (p.His47Gln)
c.177T>A (p.His59Gln)
11g.71444078T>ACA381696372DHCR7c.236A>T (p.His79Leu)
c.62A>T (p.His21Leu)
n.513A>T
c.-333-17A>T (n.-333-17A>T)
c.140A>T (p.His47Leu)
c.176A>T (p.His59Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.71444078T>CCA381696374DHCR7c.236A>G (p.His79Arg)
c.62A>G (p.His21Arg)
n.513A>G
c.-333-17A>G (n.-333-17A>G)
c.140A>G (p.His47Arg)
c.176A>G (p.His59Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.71444078T>GCA381696375DHCR7c.236A>C (p.His79Pro)
c.62A>C (p.His21Pro)
n.513A>C
c.-333-17A>C (n.-333-17A>C)
c.140A>C (p.His47Pro)
c.176A>C (p.His59Pro)
11g.71444078T=CA1981491050DHCR7c.236A= (p.His79=)
c.62A= (p.His21=)
n.513A=
c.-333-17A= (n.-333-17A=)
c.140A= (p.His47=)
c.176A= (p.His59=)
11g.71444079G>ACA381696378DHCR7c.235C>T (p.His79Tyr)
c.61C>T (p.His21Tyr)
n.512C>T
c.-333-18C>T (n.-333-18C>T)
c.139C>T (p.His47Tyr)
c.175C>T (p.His59Tyr)
 gnomAD v4
11g.71444079G>CCA381696380DHCR7c.235C>G (p.His79Asp)
c.61C>G (p.His21Asp)
n.512C>G
c.-333-18C>G (n.-333-18C>G)
c.139C>G (p.His47Asp)
c.175C>G (p.His59Asp)
11g.71444079G>TCA381696381DHCR7c.235C>A (p.His79Asn)
c.61C>A (p.His21Asn)
n.512C>A
c.-333-18C>A (n.-333-18C>A)
c.139C>A (p.His47Asn)
c.175C>A (p.His59Asn)
11g.71444080T>ACA475520487DHCR7c.234A>T (p.Gly78=)
c.60A>T (p.Gly20=)
n.511A>T
c.-333-19A>T (n.-333-19A>T)
c.138A>T (p.Gly46=)
c.174A>T (p.Gly58=)
11g.71444080T>CCA475520489DHCR7c.234A>G (p.Gly78=)
c.60A>G (p.Gly20=)
n.511A>G
c.-333-19A>G (n.-333-19A>G)
c.138A>G (p.Gly46=)
c.174A>G (p.Gly58=)
 gnomAD v4
11g.71444080T>GCA475520491DHCR7c.234A>C (p.Gly78=)
c.60A>C (p.Gly20=)
n.511A>C
c.-333-19A>C (n.-333-19A>C)
c.138A>C (p.Gly46=)
c.174A>C (p.Gly58=)
11g.71444081C>ACA381696384DHCR7c.233G>T (p.Gly78Val)
c.59G>T (p.Gly20Val)
n.510G>T
c.-333-20G>T (n.-333-20G>T)
c.137G>T (p.Gly46Val)
c.173G>T (p.Gly58Val)
 gnomAD v4
11g.71444081C=CA1981491051DHCR7c.233G= (p.Gly78=)
c.59G= (p.Gly20=)
n.510G=
c.-333-20G= (n.-333-20G=)
c.137G= (p.Gly46=)
c.173G= (p.Gly58=)
11g.71444081C>GCA381696386DHCR7c.233G>C (p.Gly78Ala)
c.59G>C (p.Gly20Ala)
n.510G>C
c.-333-20G>C (n.-333-20G>C)
c.137G>C (p.Gly46Ala)
c.173G>C (p.Gly58Ala)
 gnomAD v4
11g.71444081C>TCA381696388DHCR7c.233G>A (p.Gly78Glu)
c.59G>A (p.Gly20Glu)
n.510G>A
c.-333-20G>A (n.-333-20G>A)
c.137G>A (p.Gly46Glu)
c.173G>A (p.Gly58Glu)
 ClinVar dbSNP
11g.71444082C>ACA381696390DHCR7c.232G>T (p.Gly78Ter)
c.58G>T (p.Gly20Ter)
n.509G>T
c.-333-21G>T (n.-333-21G>T)
c.136G>T (p.Gly46Ter)
c.172G>T (p.Gly58Ter)
11g.71444082C=CA1981491052DHCR7c.232G= (p.Gly78=)
c.58G= (p.Gly20=)
n.509G=
c.-333-21G= (n.-333-21G=)
c.136G= (p.Gly46=)
c.172G= (p.Gly58=)
11g.71444082C>GCA381696393DHCR7c.232G>C (p.Gly78Arg)
c.58G>C (p.Gly20Arg)
n.509G>C
c.-333-21G>C (n.-333-21G>C)
c.136G>C (p.Gly46Arg)
c.172G>C (p.Gly58Arg)
 gnomAD v4
11g.71444082C>TCA6162658DHCR7c.232G>A (p.Gly78Arg)
c.58G>A (p.Gly20Arg)
n.509G>A
c.-333-21G>A (n.-333-21G>A)
c.136G>A (p.Gly46Arg)
c.172G>A (p.Gly58Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444083G>ACA147245DHCR7c.231C>T (p.Thr77=)
c.57C>T (p.Thr19=)
n.508C>T
c.-333-22C>T (n.-333-22C>T)
c.135C>T (p.Thr45=)
c.171C>T (p.Thr57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444083G>CCA475520511DHCR7c.231C>G (p.Thr77=)
c.57C>G (p.Thr19=)
n.508C>G
c.-333-22C>G (n.-333-22C>G)
c.135C>G (p.Thr45=)
c.171C>G (p.Thr57=)
 ClinVar dbSNP gnomAD v4
11g.71444083G=CA1981491053DHCR7c.231C= (p.Thr77=)
c.57C= (p.Thr19=)
n.508C=
c.-333-22C= (n.-333-22C=)
c.135C= (p.Thr45=)
c.171C= (p.Thr57=)
11g.71444083G>TCA475520507DHCR7c.231C>A (p.Thr77=)
c.57C>A (p.Thr19=)
n.508C>A
c.-333-22C>A (n.-333-22C>A)
c.135C>A (p.Thr45=)
c.171C>A (p.Thr57=)
 gnomAD v4
11g.71444084G>ACA6162659DHCR7c.230C>T (p.Thr77Ile)
c.56C>T (p.Thr19Ile)
n.507C>T
c.-333-23C>T (n.-333-23C>T)
c.134C>T (p.Thr45Ile)
c.170C>T (p.Thr57Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444084G>CCA381696398DHCR7c.230C>G (p.Thr77Ser)
c.56C>G (p.Thr19Ser)
n.507C>G
c.-333-23C>G (n.-333-23C>G)
c.134C>G (p.Thr45Ser)
c.170C>G (p.Thr57Ser)
11g.71444084G=CA1981491054DHCR7c.230C= (p.Thr77=)
c.56C= (p.Thr19=)
n.507C=
c.-333-23C= (n.-333-23C=)
c.134C= (p.Thr45=)
c.170C= (p.Thr57=)
11g.71444084G>TCA381696401DHCR7c.230C>A (p.Thr77Asn)
c.56C>A (p.Thr19Asn)
n.507C>A
c.-333-23C>A (n.-333-23C>A)
c.134C>A (p.Thr45Asn)
c.170C>A (p.Thr57Asn)
11g.71444085T>ACA381696405DHCR7c.229A>T (p.Thr77Ser)
c.55A>T (p.Thr19Ser)
n.506A>T
c.-333-24A>T (n.-333-24A>T)
c.133A>T (p.Thr45Ser)
c.169A>T (p.Thr57Ser)
11g.71444085T>CCA381696407DHCR7c.229A>G (p.Thr77Ala)
c.55A>G (p.Thr19Ala)
n.506A>G
c.-333-24A>G (n.-333-24A>G)
c.133A>G (p.Thr45Ala)
c.169A>G (p.Thr57Ala)
11g.71444085T>GCA381696410DHCR7c.229A>C (p.Thr77Pro)
c.55A>C (p.Thr19Pro)
n.506A>C
c.-333-24A>C (n.-333-24A>C)
c.133A>C (p.Thr45Pro)
c.169A>C (p.Thr57Pro)
11g.71444086G>ACA475520520DHCR7c.228C>T (p.Val76=)
c.54C>T (p.Val18=)
n.505C>T
c.-333-25C>T (n.-333-25C>T)
c.132C>T (p.Val44=)
c.168C>T (p.Val56=)
 ClinVar dbSNP
11g.71444086G>CCA475520521DHCR7c.228C>G (p.Val76=)
c.54C>G (p.Val18=)
n.505C>G
c.-333-25C>G (n.-333-25C>G)
c.132C>G (p.Val44=)
c.168C>G (p.Val56=)
11g.71444086G>TCA475520522DHCR7c.228C>A (p.Val76=)
c.54C>A (p.Val18=)
n.505C>A
c.-333-25C>A (n.-333-25C>A)
c.132C>A (p.Val44=)
c.168C>A (p.Val56=)
11g.71444087A>CCA381696412DHCR7c.227T>G (p.Val76Gly)
c.53T>G (p.Val18Gly)
n.504T>G
c.-333-26T>G (n.-333-26T>G)
c.131T>G (p.Val44Gly)
c.167T>G (p.Val56Gly)
11g.71444087A>GCA381696415DHCR7c.227T>C (p.Val76Ala)
c.53T>C (p.Val18Ala)
n.504T>C
c.-333-26T>C (n.-333-26T>C)
c.131T>C (p.Val44Ala)
c.167T>C (p.Val56Ala)
11g.71444087A>TCA381696416DHCR7c.227T>A (p.Val76Asp)
c.53T>A (p.Val18Asp)
n.504T>A
c.-333-26T>A (n.-333-26T>A)
c.131T>A (p.Val44Asp)
c.167T>A (p.Val56Asp)
11g.71444088C>ACA381696418DHCR7c.226G>T (p.Val76Phe)
c.52G>T (p.Val18Phe)
n.503G>T
c.-333-27G>T (n.-333-27G>T)
c.130G>T (p.Val44Phe)
c.166G>T (p.Val56Phe)
11g.71444088C=CA1981491055DHCR7c.226G= (p.Val76=)
c.52G= (p.Val18=)
n.503G=
c.-333-27G= (n.-333-27G=)
c.130G= (p.Val44=)
c.166G= (p.Val56=)
11g.71444088C>GCA381696421DHCR7c.226G>C (p.Val76Leu)
c.52G>C (p.Val18Leu)
n.503G>C
c.-333-27G>C (n.-333-27G>C)
c.130G>C (p.Val44Leu)
c.166G>C (p.Val56Leu)
11g.71444088C>TCA6162660DHCR7c.226G>A (p.Val76Ile)
c.52G>A (p.Val18Ile)
n.503G>A
c.-333-27G>A (n.-333-27G>A)
c.130G>A (p.Val44Ile)
c.166G>A (p.Val56Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444089G>ACA6162661DHCR7c.225C>T (p.Ile75=)
c.51C>T (p.Ile17=)
n.502C>T
c.-333-28C>T (n.-333-28C>T)
c.129C>T (p.Ile43=)
c.165C>T (p.Ile55=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71444089G>CCA381696426DHCR7c.225C>G (p.Ile75Met)
c.51C>G (p.Ile17Met)
n.502C>G
c.-333-28C>G (n.-333-28C>G)
c.129C>G (p.Ile43Met)
c.165C>G (p.Ile55Met)
11g.71444089G=CA1981491056DHCR7c.225C= (p.Ile75=)
c.51C= (p.Ile17=)
n.502C=
c.-333-28C= (n.-333-28C=)
c.129C= (p.Ile43=)
c.165C= (p.Ile55=)
11g.71444089G>TCA475520523DHCR7c.225C>A (p.Ile75=)
c.51C>A (p.Ile17=)
n.502C>A
c.-333-28C>A (n.-333-28C>A)
c.129C>A (p.Ile43=)
c.165C>A (p.Ile55=)
11g.71444090A>CCA381696434DHCR7c.224T>G (p.Ile75Ser)
c.50T>G (p.Ile17Ser)
n.501T>G
c.-333-29T>G (n.-333-29T>G)
c.128T>G (p.Ile43Ser)
c.164T>G (p.Ile55Ser)
11g.71444090A>GCA381696431DHCR7c.224T>C (p.Ile75Thr)
c.50T>C (p.Ile17Thr)
n.501T>C
c.-333-29T>C (n.-333-29T>C)
c.128T>C (p.Ile43Thr)
c.164T>C (p.Ile55Thr)
 gnomAD v4
11g.71444090A>TCA381696429DHCR7c.224T>A (p.Ile75Asn)
c.50T>A (p.Ile17Asn)
n.501T>A
c.-333-29T>A (n.-333-29T>A)
c.128T>A (p.Ile43Asn)
c.164T>A (p.Ile55Asn)
11g.71444091T>ACA245187DHCR7c.223A>T (p.Ile75Phe)
c.49A>T (p.Ile17Phe)
n.500A>T
c.-333-30A>T (n.-333-30A>T)
c.127A>T (p.Ile43Phe)
c.163A>T (p.Ile55Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444091T>CCA381696438DHCR7c.223A>G (p.Ile75Val)
c.49A>G (p.Ile17Val)
n.500A>G
c.-333-30A>G (n.-333-30A>G)
c.127A>G (p.Ile43Val)
c.163A>G (p.Ile55Val)
 gnomAD v4
11g.71444091T>GCA381696437DHCR7c.223A>C (p.Ile75Leu)
c.49A>C (p.Ile17Leu)
n.500A>C
c.-333-30A>C (n.-333-30A>C)
c.127A>C (p.Ile43Leu)
c.163A>C (p.Ile55Leu)
 gnomAD v4
11g.71444091T=CA1981491057DHCR7c.223A= (p.Ile75=)
c.49A= (p.Ile17=)
n.500A=
c.-333-30A= (n.-333-30A=)
c.127A= (p.Ile43=)
c.163A= (p.Ile55=)
11g.71444092G>ACA6162662DHCR7c.222C>T (p.Asp74=)
c.48C>T (p.Asp16=)
n.499C>T
c.-333-31C>T (n.-333-31C>T)
c.126C>T (p.Asp42=)
c.162C>T (p.Asp54=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444092G>CCA6162663DHCR7c.222C>G (p.Asp74Glu)
c.48C>G (p.Asp16Glu)
n.499C>G
c.-333-31C>G (n.-333-31C>G)
c.126C>G (p.Asp42Glu)
c.162C>G (p.Asp54Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444092G=CA1981491058DHCR7c.222C= (p.Asp74=)
c.48C= (p.Asp16=)
n.499C=
c.-333-31C= (n.-333-31C=)
c.126C= (p.Asp42=)
c.162C= (p.Asp54=)
11g.71444092G>TCA381696442DHCR7c.222C>A (p.Asp74Glu)
c.48C>A (p.Asp16Glu)
n.499C>A
c.-333-31C>A (n.-333-31C>A)
c.126C>A (p.Asp42Glu)
c.162C>A (p.Asp54Glu)
11g.71444093T>ACA381696445DHCR7c.221A>T (p.Asp74Val)
c.47A>T (p.Asp16Val)
n.498A>T
c.-333-32A>T (n.-333-32A>T)
c.125A>T (p.Asp42Val)
c.161A>T (p.Asp54Val)
11g.71444093T>CCA381696447DHCR7c.221A>G (p.Asp74Gly)
c.47A>G (p.Asp16Gly)
n.498A>G
c.-333-32A>G (n.-333-32A>G)
c.125A>G (p.Asp42Gly)
c.161A>G (p.Asp54Gly)
 gnomAD v4
11g.71444093T>GCA224280849DHCR7c.221A>C (p.Asp74Ala)
c.47A>C (p.Asp16Ala)
n.498A>C
c.-333-32A>C (n.-333-32A>C)
c.125A>C (p.Asp42Ala)
c.161A>C (p.Asp54Ala)
 dbSNP
11g.71444093T=CA1981491059DHCR7c.221A= (p.Asp74=)
c.47A= (p.Asp16=)
n.498A=
c.-333-32A= (n.-333-32A=)
c.125A= (p.Asp42=)
c.161A= (p.Asp54=)
11g.71444094C>ACA381696449DHCR7c.220G>T (p.Asp74Tyr)
c.46G>T (p.Asp16Tyr)
n.497G>T
c.-333-33G>T (n.-333-33G>T)
c.124G>T (p.Asp42Tyr)
c.160G>T (p.Asp54Tyr)
11g.71444094C=CA1981491060DHCR7c.220G= (p.Asp74=)
c.46G= (p.Asp16=)
n.497G=
c.-333-33G= (n.-333-33G=)
c.124G= (p.Asp42=)
c.160G= (p.Asp54=)
11g.71444094C>GCA381696450DHCR7c.220G>C (p.Asp74His)
c.46G>C (p.Asp16His)
n.497G>C
c.-333-33G>C (n.-333-33G>C)
c.124G>C (p.Asp42His)
c.160G>C (p.Asp54His)
11g.71444094C>TCA6162664DHCR7c.220G>A (p.Asp74Asn)
c.46G>A (p.Asp16Asn)
n.497G>A
c.-333-33G>A (n.-333-33G>A)
c.124G>A (p.Asp42Asn)
c.160G>A (p.Asp54Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444095C>ACA475520526DHCR7c.219G>T (p.Val73=)
c.45G>T (p.Val15=)
n.496G>T
c.-333-34G>T (n.-333-34G>T)
c.123G>T (p.Val41=)
c.159G>T (p.Val53=)
11g.71444095C>GCA475520525DHCR7c.219G>C (p.Val73=)
c.45G>C (p.Val15=)
n.496G>C
c.-333-34G>C (n.-333-34G>C)
c.123G>C (p.Val41=)
c.159G>C (p.Val53=)
11g.71444095C>TCA475520524DHCR7c.219G>A (p.Val73=)
c.45G>A (p.Val15=)
n.496G>A
c.-333-34G>A (n.-333-34G>A)
c.123G>A (p.Val41=)
c.159G>A (p.Val53=)
 gnomAD v4
11g.71444096A>CCA381696453DHCR7c.218T>G (p.Val73Gly)
c.44T>G (p.Val15Gly)
n.495T>G
c.-333-35T>G (n.-333-35T>G)
c.122T>G (p.Val41Gly)
c.158T>G (p.Val53Gly)
11g.71444096A>GCA381696456DHCR7c.218T>C (p.Val73Ala)
c.44T>C (p.Val15Ala)
n.495T>C
c.-333-35T>C (n.-333-35T>C)
c.122T>C (p.Val41Ala)
c.158T>C (p.Val53Ala)
 gnomAD v4
11g.71444096A>TCA381696458DHCR7c.218T>A (p.Val73Glu)
c.44T>A (p.Val15Glu)
n.495T>A
c.-333-35T>A (n.-333-35T>A)
c.122T>A (p.Val41Glu)
c.158T>A (p.Val53Glu)
11g.71444097C>ACA381696461DHCR7c.217G>T (p.Val73Leu)
c.43G>T (p.Val15Leu)
n.494G>T
c.-333-36G>T (n.-333-36G>T)
c.121G>T (p.Val41Leu)
c.157G>T (p.Val53Leu)
11g.71444097C>GCA381696465DHCR7c.217G>C (p.Val73Leu)
c.43G>C (p.Val15Leu)
n.494G>C
c.-333-36G>C (n.-333-36G>C)
c.121G>C (p.Val41Leu)
c.157G>C (p.Val53Leu)
11g.71444097C>TCA381696463DHCR7c.217G>A (p.Val73Met)
c.43G>A (p.Val15Met)
n.494G>A
c.-333-36G>A (n.-333-36G>A)
c.121G>A (p.Val41Met)
c.157G>A (p.Val53Met)
11g.71444098C>ACA475520529DHCR7c.216G>T (p.Val72=)
c.42G>T (p.Val14=)
n.493G>T
c.-333-37G>T (n.-333-37G>T)
c.120G>T (p.Val40=)
c.156G>T (p.Val52=)
 gnomAD v4
11g.71444098C>GCA475520528DHCR7c.216G>C (p.Val72=)
c.42G>C (p.Val14=)
n.493G>C
c.-333-37G>C (n.-333-37G>C)
c.120G>C (p.Val40=)
c.156G>C (p.Val52=)
11g.71444098C>TCA475520527DHCR7c.216G>A (p.Val72=)
c.42G>A (p.Val14=)
n.493G>A
c.-333-37G>A (n.-333-37G>A)
c.120G>A (p.Val40=)
c.156G>A (p.Val52=)
11g.71444099A>CCA381696468DHCR7c.215T>G (p.Val72Gly)
c.41T>G (p.Val14Gly)
n.492T>G
c.-333-38T>G (n.-333-38T>G)
c.119T>G (p.Val40Gly)
c.155T>G (p.Val52Gly)
11g.71444099A>GCA381696470DHCR7c.215T>C (p.Val72Ala)
c.41T>C (p.Val14Ala)
n.492T>C
c.-333-38T>C (n.-333-38T>C)
c.119T>C (p.Val40Ala)
c.155T>C (p.Val52Ala)
11g.71444099A>TCA381696472DHCR7c.215T>A (p.Val72Glu)
c.41T>A (p.Val14Glu)
n.492T>A
c.-333-38T>A (n.-333-38T>A)
c.119T>A (p.Val40Glu)
c.155T>A (p.Val52Glu)
11g.71444100C>ACA381696475DHCR7c.214G>T (p.Val72Leu)
c.40G>T (p.Val14Leu)
n.491G>T
c.-333-39G>T (n.-333-39G>T)
c.118G>T (p.Val40Leu)
c.154G>T (p.Val52Leu)
11g.71444100C>GCA381696477DHCR7c.214G>C (p.Val72Leu)
c.40G>C (p.Val14Leu)
n.491G>C
c.-333-39G>C (n.-333-39G>C)
c.118G>C (p.Val40Leu)
c.154G>C (p.Val52Leu)
11g.71444100C>TCA381696479DHCR7c.214G>A (p.Val72Met)
c.40G>A (p.Val14Met)
n.491G>A
c.-333-39G>A (n.-333-39G>A)
c.118G>A (p.Val40Met)
c.154G>A (p.Val52Met)
11g.71444101A=CA1981491062DHCR7c.213T= (p.Pro71=)
c.39T= (p.Pro13=)
n.490T=
c.-333-40T= (n.-333-40T=)
c.117T= (p.Pro39=)
c.153T= (p.Pro51=)
11g.71444101A>CCA475520531DHCR7c.213T>G (p.Pro71=)
c.39T>G (p.Pro13=)
n.490T>G
c.-333-40T>G (n.-333-40T>G)
c.117T>G (p.Pro39=)
c.153T>G (p.Pro51=)
 ClinVar dbSNP
11g.71444101A>GCA475520533DHCR7c.213T>C (p.Pro71=)
c.39T>C (p.Pro13=)
n.490T>C
c.-333-40T>C (n.-333-40T>C)
c.117T>C (p.Pro39=)
c.153T>C (p.Pro51=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71444101A>TCA475520532DHCR7c.213T>A (p.Pro71=)
c.39T>A (p.Pro13=)
n.490T>A
c.-333-40T>A (n.-333-40T>A)
c.117T>A (p.Pro39=)
c.153T>A (p.Pro51=)
11g.71444101_71444102delinsAGCA1981491061DHCR7c.212_213delinsCT (p.Pro71=)
c.38_39delinsCT (p.Pro13=)
n.489_490delinsCT
c.-333-41_-333-40delinsCT (n.-333-41_-333-40delinsCT)
c.116_117delinsCT (p.Pro39=)
c.152_153delinsCT (p.Pro51=)
11g.71444102G>ACA381696481DHCR7c.212C>T (p.Pro71Leu)
c.38C>T (p.Pro13Leu)
n.489C>T
c.-333-41C>T (n.-333-41C>T)
c.116C>T (p.Pro39Leu)
c.152C>T (p.Pro51Leu)
11g.71444102G>CCA381696482DHCR7c.212C>G (p.Pro71Arg)
c.38C>G (p.Pro13Arg)
n.489C>G
c.-333-41C>G (n.-333-41C>G)
c.116C>G (p.Pro39Arg)
c.152C>G (p.Pro51Arg)
 gnomAD v4
11g.71444102G>TCA381696484DHCR7c.212C>A (p.Pro71His)
c.38C>A (p.Pro13His)
n.489C>A
c.-333-41C>A (n.-333-41C>A)
c.116C>A (p.Pro39His)
c.152C>A (p.Pro51His)
11g.71444104delCA600241321DHCR7c.212del (p.Pro71LeufsTer22)
c.38del (p.Pro13LeufsTer22)
n.489del
c.-333-41del (n.-333-41del)
c.116del (p.Pro39LeufsTer22)
c.212del (p.Pro71LeufsTer?)
c.152del (p.Pro51LeufsTer22)
 dbSNP gnomAD v2
11g.71444103G>ACA381696487DHCR7c.211C>T (p.Pro71Ser)
c.37C>T (p.Pro13Ser)
n.488C>T
c.-333-42C>T (n.-333-42C>T)
c.115C>T (p.Pro39Ser)
c.151C>T (p.Pro51Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.71444103G>CCA381696489DHCR7c.211C>G (p.Pro71Ala)
c.37C>G (p.Pro13Ala)
n.488C>G
c.-333-42C>G (n.-333-42C>G)
c.115C>G (p.Pro39Ala)
c.151C>G (p.Pro51Ala)
11g.71444103G=CA1981491063DHCR7c.211C= (p.Pro71=)
c.37C= (p.Pro13=)
n.488C=
c.-333-42C= (n.-333-42C=)
c.115C= (p.Pro39=)
c.151C= (p.Pro51=)
11g.71444103G>TCA381696486DHCR7c.211C>A (p.Pro71Thr)
c.37C>A (p.Pro13Thr)
n.488C>A
c.-333-42C>A (n.-333-42C>A)
c.115C>A (p.Pro39Thr)
c.151C>A (p.Pro51Thr)
11g.71444104G>ACA6162665DHCR7c.210C>T (p.Gly70=)
c.36C>T (p.Gly12=)
n.487C>T
c.-333-43C>T (n.-333-43C>T)
c.114C>T (p.Gly38=)
c.150C>T (p.Gly50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444104G>CCA475520534DHCR7c.210C>G (p.Gly70=)
c.36C>G (p.Gly12=)
n.487C>G
c.-333-43C>G (n.-333-43C>G)
c.114C>G (p.Gly38=)
c.150C>G (p.Gly50=)
11g.71444104G=CA1981491064DHCR7c.210C= (p.Gly70=)
c.36C= (p.Gly12=)
n.487C=
c.-333-43C= (n.-333-43C=)
c.114C= (p.Gly38=)
c.150C= (p.Gly50=)
11g.71444104G>TCA475520535DHCR7c.210C>A (p.Gly70=)
c.36C>A (p.Gly12=)
n.487C>A
c.-333-43C>A (n.-333-43C>A)
c.114C>A (p.Gly38=)
c.150C>A (p.Gly50=)
 gnomAD v4
11g.71444105C>ACA381696492DHCR7c.209G>T (p.Gly70Val)
c.35G>T (p.Gly12Val)
n.486G>T
c.-333-44G>T (n.-333-44G>T)
c.113G>T (p.Gly38Val)
c.149G>T (p.Gly50Val)
 dbSNP gnomAD v4
11g.71444105C=CA1981491065DHCR7c.209G= (p.Gly70=)
c.35G= (p.Gly12=)
n.486G=
c.-333-44G= (n.-333-44G=)
c.113G= (p.Gly38=)
c.149G= (p.Gly50=)
11g.71444105C>GCA381696494DHCR7c.209G>C (p.Gly70Ala)
c.35G>C (p.Gly12Ala)
n.486G>C
c.-333-44G>C (n.-333-44G>C)
c.113G>C (p.Gly38Ala)
c.149G>C (p.Gly50Ala)
11g.71444105C>TCA381696496DHCR7c.209G>A (p.Gly70Asp)
c.35G>A (p.Gly12Asp)
n.486G>A
c.-333-44G>A (n.-333-44G>A)
c.113G>A (p.Gly38Asp)
c.149G>A (p.Gly50Asp)
 dbSNP gnomAD v4
11g.71444105_71444106delCA2614863250DHCR7c.208_209del (p.Gly70ProfsTer?)
c.34_35del (p.Gly12ProfsTer?)
n.485_486del
c.-333-45_-333-44del (n.-333-45_-333-44del)
c.112_113del (p.Gly38ProfsTer?)
c.148_149del (p.Gly50ProfsTer?)
 gnomAD v4
11g.71444105_71444107delinsATGCA2580084822DHCR7c.207_209delinsCAT (p.Gly70Ile)
c.33_35delinsCAT (p.Gly12Ile)
n.484_486delinsCAT
c.-333-46_-333-44delinsCAT (n.-333-46_-333-44delinsCAT)
c.111_113delinsCAT (p.Gly38Ile)
c.147_149delinsCAT (p.Gly50Ile)
 ClinVar
11g.71444106C>ACA381696498DHCR7c.208G>T (p.Gly70Cys)
c.34G>T (p.Gly12Cys)
n.485G>T
c.-333-45G>T (n.-333-45G>T)
c.112G>T (p.Gly38Cys)
c.148G>T (p.Gly50Cys)
 gnomAD v4
11g.71444106C=CA1981491066DHCR7c.208G= (p.Gly70=)
c.34G= (p.Gly12=)
n.485G=
c.-333-45G= (n.-333-45G=)
c.112G= (p.Gly38=)
c.148G= (p.Gly50=)
11g.71444106C>GCA6162666DHCR7c.208G>C (p.Gly70Arg)
c.34G>C (p.Gly12Arg)
n.485G>C
c.-333-45G>C (n.-333-45G>C)
c.112G>C (p.Gly38Arg)
c.148G>C (p.Gly50Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444106C>TCA233887DHCR7c.208G>A (p.Gly70Ser)
c.34G>A (p.Gly12Ser)
n.485G>A
c.-333-45G>A (n.-333-45G>A)
c.112G>A (p.Gly38Ser)
c.148G>A (p.Gly50Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444106_71444107delinsGGCA2573147617DHCR7c.207_208delinsCC (p.Gly70Arg)
c.33_34delinsCC (p.Gly12Arg)
n.484_485delinsCC
c.-333-46_-333-45delinsCC (n.-333-46_-333-45delinsCC)
c.111_112delinsCC (p.Gly38Arg)
c.147_148delinsCC (p.Gly50Arg)
 ClinVar dbSNP
11g.71444106_71444107delinsTGCA915948246DHCR7c.207_208delinsCA (p.Gly70Ser)
c.33_34delinsCA (p.Gly12Ser)
n.484_485delinsCA
c.-333-46_-333-45delinsCA (n.-333-46_-333-45delinsCA)
c.111_112delinsCA (p.Gly38Ser)
c.147_148delinsCA (p.Gly50Ser)
 ClinVar
11g.71444107A=CA1981491067DHCR7c.207T= (p.Thr69=)
c.33T= (p.Thr11=)
n.484T=
c.-333-46T= (n.-333-46T=)
c.111T= (p.Thr37=)
c.147T= (p.Thr49=)
11g.71444107A>CCA475520536DHCR7c.207T>G (p.Thr69=)
c.33T>G (p.Thr11=)
n.484T>G
c.-333-46T>G (n.-333-46T>G)
c.111T>G (p.Thr37=)
c.147T>G (p.Thr49=)
 dbSNP
11g.71444107A>GCA147242DHCR7c.207T>C (p.Thr69=)
c.33T>C (p.Thr11=)
n.484T>C
c.-333-46T>C (n.-333-46T>C)
c.111T>C (p.Thr37=)
c.147T>C (p.Thr49=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444107A>TCA475520537DHCR7c.207T>A (p.Thr69=)
c.33T>A (p.Thr11=)
n.484T>A
c.-333-46T>A (n.-333-46T>A)
c.111T>A (p.Thr37=)
c.147T>A (p.Thr49=)
 dbSNP gnomAD v4
11g.71444107_71444108insTGCA2614863283DHCR7c.206_207insCA (p.Gly70MetfsTer24)
c.32_33insCA (p.Gly12MetfsTer24)
n.483_484insCA
c.-333-47_-333-46insCA (n.-333-47_-333-46insCA)
c.110_111insCA (p.Gly38MetfsTer24)
c.206_207insCA (p.Gly70MetfsTer?)
c.146_147insCA (p.Gly50MetfsTer24)
 gnomAD v4
11g.71444108G>ACA381696505DHCR7c.206C>T (p.Thr69Ile)
c.32C>T (p.Thr11Ile)
n.483C>T
c.-333-47C>T (n.-333-47C>T)
c.110C>T (p.Thr37Ile)
c.146C>T (p.Thr49Ile)
11g.71444108G>CCA381696507DHCR7c.206C>G (p.Thr69Ser)
c.32C>G (p.Thr11Ser)
n.483C>G
c.-333-47C>G (n.-333-47C>G)
c.110C>G (p.Thr37Ser)
c.146C>G (p.Thr49Ser)
11g.71444108G>TCA381696509DHCR7c.206C>A (p.Thr69Asn)
c.32C>A (p.Thr11Asn)
n.483C>A
c.-333-47C>A (n.-333-47C>A)
c.110C>A (p.Thr37Asn)
c.146C>A (p.Thr49Asn)
11g.71444109T>ACA381696512DHCR7c.205A>T (p.Thr69Ser)
c.31A>T (p.Thr11Ser)
n.482A>T
c.-333-48A>T (n.-333-48A>T)
c.109A>T (p.Thr37Ser)
c.145A>T (p.Thr49Ser)
11g.71444109T>CCA381696515DHCR7c.205A>G (p.Thr69Ala)
c.31A>G (p.Thr11Ala)
n.482A>G
c.-333-48A>G (n.-333-48A>G)
c.109A>G (p.Thr37Ala)
c.145A>G (p.Thr49Ala)
11g.71444109T>GCA381696510DHCR7c.205A>C (p.Thr69Pro)
c.31A>C (p.Thr11Pro)
n.482A>C
c.-333-48A>C (n.-333-48A>C)
c.109A>C (p.Thr37Pro)
c.145A>C (p.Thr49Pro)
11g.71444110C>ACA475520539DHCR7c.204G>T (p.Leu68=)
c.30G>T (p.Leu10=)
n.481G>T
c.-333-49G>T (n.-333-49G>T)
c.108G>T (p.Leu36=)
c.144G>T (p.Leu48=)
 gnomAD v4
11g.71444110C>GCA475520540DHCR7c.204G>C (p.Leu68=)
c.30G>C (p.Leu10=)
n.481G>C
c.-333-49G>C (n.-333-49G>C)
c.108G>C (p.Leu36=)
c.144G>C (p.Leu48=)
11g.71444110C>TCA475520541DHCR7c.204G>A (p.Leu68=)
c.30G>A (p.Leu10=)
n.481G>A
c.-333-49G>A (n.-333-49G>A)
c.108G>A (p.Leu36=)
c.144G>A (p.Leu48=)
11g.71444111A=CA1981491068DHCR7c.203T= (p.Leu68=)
c.29T= (p.Leu10=)
n.480T=
c.-333-50T= (n.-333-50T=)
c.107T= (p.Leu36=)
c.143T= (p.Leu48=)
11g.71444111A>CCA381696517DHCR7c.203T>G (p.Leu68Arg)
c.29T>G (p.Leu10Arg)
n.480T>G
c.-333-50T>G (n.-333-50T>G)
c.107T>G (p.Leu36Arg)
c.143T>G (p.Leu48Arg)
11g.71444111A>GCA224280858DHCR7c.203T>C (p.Leu68Pro)
c.29T>C (p.Leu10Pro)
n.480T>C
c.-333-50T>C (n.-333-50T>C)
c.107T>C (p.Leu36Pro)
c.143T>C (p.Leu48Pro)
 dbSNP gnomAD v4
11g.71444111A>TCA381696522DHCR7c.203T>A (p.Leu68Gln)
c.29T>A (p.Leu10Gln)
n.480T>A
c.-333-50T>A (n.-333-50T>A)
c.107T>A (p.Leu36Gln)
c.143T>A (p.Leu48Gln)
11g.71444112G>ACA475520542DHCR7c.202C>T (p.Leu68=)
c.28C>T (p.Leu10=)
n.479C>T
c.-333-51C>T (n.-333-51C>T)
c.106C>T (p.Leu36=)
c.142C>T (p.Leu48=)
11g.71444112G>CCA381696524DHCR7c.202C>G (p.Leu68Val)
c.28C>G (p.Leu10Val)
n.479C>G
c.-333-51C>G (n.-333-51C>G)
c.106C>G (p.Leu36Val)
c.142C>G (p.Leu48Val)
11g.71444112G>TCA381696525DHCR7c.202C>A (p.Leu68Met)
c.28C>A (p.Leu10Met)
n.479C>A
c.-333-51C>A (n.-333-51C>A)
c.106C>A (p.Leu36Met)
c.142C>A (p.Leu48Met)
11g.71444113G>ACA475520543DHCR7c.201C>T (p.Ala67=)
c.27C>T (p.Ala9=)
n.478C>T
c.-333-52C>T (n.-333-52C>T)
c.105C>T (p.Ala35=)
c.141C>T (p.Ala47=)
 ClinVar dbSNP gnomAD v4
11g.71444113G>CCA475520544DHCR7c.201C>G (p.Ala67=)
c.27C>G (p.Ala9=)
n.478C>G
c.-333-52C>G (n.-333-52C>G)
c.105C>G (p.Ala35=)
c.141C>G (p.Ala47=)
11g.71444113G=CA1981491069DHCR7c.201C= (p.Ala67=)
c.27C= (p.Ala9=)
n.478C=
c.-333-52C= (n.-333-52C=)
c.105C= (p.Ala35=)
c.141C= (p.Ala47=)
11g.71444113G>TCA475520545DHCR7c.201C>A (p.Ala67=)
c.27C>A (p.Ala9=)
n.478C>A
c.-333-52C>A (n.-333-52C>A)
c.105C>A (p.Ala35=)
c.141C>A (p.Ala47=)
11g.71444114G>ACA381696528DHCR7c.200C>T (p.Ala67Val)
c.26C>T (p.Ala9Val)
n.477C>T
c.-333-53C>T (n.-333-53C>T)
c.104C>T (p.Ala35Val)
c.140C>T (p.Ala47Val)
11g.71444114G>CCA381696526DHCR7c.200C>G (p.Ala67Gly)
c.26C>G (p.Ala9Gly)
n.477C>G
c.-333-53C>G (n.-333-53C>G)
c.104C>G (p.Ala35Gly)
c.140C>G (p.Ala47Gly)
11g.71444114G>TCA381696527DHCR7c.200C>A (p.Ala67Asp)
c.26C>A (p.Ala9Asp)
n.477C>A
c.-333-53C>A (n.-333-53C>A)
c.104C>A (p.Ala35Asp)
c.140C>A (p.Ala47Asp)
11g.71444115delCA2580084824DHCR7c.199del (p.Ala67ProfsTer2)
c.25del (p.Ala9ProfsTer2)
n.476del
c.-333-54del (n.-333-54del)
c.103del (p.Ala35ProfsTer2)
c.139del (p.Ala47ProfsTer2)
 ClinVar
11g.71444115C>ACA381696529DHCR7c.199G>T (p.Ala67Ser)
c.25G>T (p.Ala9Ser)
n.476G>T
c.-333-54G>T (n.-333-54G>T)
c.103G>T (p.Ala35Ser)
c.139G>T (p.Ala47Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.71444115C=CA1981491070DHCR7c.199G= (p.Ala67=)
c.25G= (p.Ala9=)
n.476G=
c.-333-54G= (n.-333-54G=)
c.103G= (p.Ala35=)
c.139G= (p.Ala47=)
11g.71444115C>GCA381696530DHCR7c.199G>C (p.Ala67Pro)
c.25G>C (p.Ala9Pro)
n.476G>C
c.-333-54G>C (n.-333-54G>C)
c.103G>C (p.Ala35Pro)
c.139G>C (p.Ala47Pro)
11g.71444115C>TCA221662DHCR7c.199G>A (p.Ala67Thr)
c.25G>A (p.Ala9Thr)
n.476G>A
c.-333-54G>A (n.-333-54G>A)
c.103G>A (p.Ala35Thr)
c.139G>A (p.Ala47Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444116G>ACA6162667DHCR7c.198C>T (p.Cys66=)
c.24C>T (p.Cys8=)
n.475C>T
c.-333-55C>T (n.-333-55C>T)
c.102C>T (p.Cys34=)
c.138C>T (p.Cys46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444116G>CCA381696531DHCR7c.198C>G (p.Cys66Trp)
c.24C>G (p.Cys8Trp)
n.475C>G
c.-333-55C>G (n.-333-55C>G)
c.102C>G (p.Cys34Trp)
c.138C>G (p.Cys46Trp)
11g.71444116G=CA1981491071DHCR7c.198C= (p.Cys66=)
c.24C= (p.Cys8=)
n.475C=
c.-333-55C= (n.-333-55C=)
c.102C= (p.Cys34=)
c.138C= (p.Cys46=)
11g.71444116G>TCA381696532DHCR7c.198C>A (p.Cys66Ter)
c.24C>A (p.Cys8Ter)
n.475C>A
c.-333-55C>A (n.-333-55C>A)
c.102C>A (p.Cys34Ter)
c.138C>A (p.Cys46Ter)
 COSMIC COSMIC
11g.71444117C>ACA381696535DHCR7c.197G>T (p.Cys66Phe)
c.23G>T (p.Cys8Phe)
n.474G>T
c.-333-56G>T (n.-333-56G>T)
c.101G>T (p.Cys34Phe)
c.137G>T (p.Cys46Phe)
11g.71444117C>GCA381696536DHCR7c.197G>C (p.Cys66Ser)
c.23G>C (p.Cys8Ser)
n.474G>C
c.-333-56G>C (n.-333-56G>C)
c.101G>C (p.Cys34Ser)
c.137G>C (p.Cys46Ser)
11g.71444117C>TCA381696534DHCR7c.197G>A (p.Cys66Tyr)
c.23G>A (p.Cys8Tyr)
n.474G>A
c.-333-56G>A (n.-333-56G>A)
c.101G>A (p.Cys34Tyr)
c.137G>A (p.Cys46Tyr)
 ClinVar dbSNP
11g.71444118A=CA1981491072DHCR7c.196T= (p.Cys66=)
c.22T= (p.Cys8=)
n.473T=
c.-333-57T= (n.-333-57T=)
c.100T= (p.Cys34=)
c.136T= (p.Cys46=)
11g.71444118A>CCA381696544DHCR7c.196T>G (p.Cys66Gly)
c.22T>G (p.Cys8Gly)
n.473T>G
c.-333-57T>G (n.-333-57T>G)
c.100T>G (p.Cys34Gly)
c.136T>G (p.Cys46Gly)
11g.71444118A>GCA381696540DHCR7c.196T>C (p.Cys66Arg)
c.22T>C (p.Cys8Arg)
n.473T>C
c.-333-57T>C (n.-333-57T>C)
c.100T>C (p.Cys34Arg)
c.136T>C (p.Cys46Arg)
 dbSNP
11g.71444118A>TCA381696541DHCR7c.196T>A (p.Cys66Ser)
c.22T>A (p.Cys8Ser)
n.473T>A
c.-333-57T>A (n.-333-57T>A)
c.100T>A (p.Cys34Ser)
c.136T>A (p.Cys46Ser)
11g.71444119G>ACA475520546DHCR7c.195C>T (p.Ser65=)
c.21C>T (p.Ser7=)
n.472C>T
c.-333-58C>T (n.-333-58C>T)
c.99C>T (p.Cys33=)
c.135C>T (p.Ser45=)
11g.71444119G>CCA381696546DHCR7c.195C>G (p.Ser65Arg)
c.21C>G (p.Ser7Arg)
n.472C>G
c.-333-58C>G (n.-333-58C>G)
c.99C>G (p.Cys33Trp)
c.135C>G (p.Ser45Arg)
11g.71444119G>TCA381696548DHCR7c.195C>A (p.Ser65Arg)
c.21C>A (p.Ser7Arg)
n.472C>A
c.-333-58C>A (n.-333-58C>A)
c.99C>A (p.Cys33Ter)
c.135C>A (p.Ser45Arg)
11g.71444120C>ACA381696551DHCR7c.194G>T (p.Ser65Ile)
c.20G>T (p.Ser7Ile)
n.471G>T
c.-333-59G>T (n.-333-59G>T)
c.99-1G>T (n.99-1G>T)
c.134G>T (p.Ser45Ile)
11g.71444120C>GCA381696553DHCR7c.194G>C (p.Ser65Thr)
c.20G>C (p.Ser7Thr)
n.471G>C
c.-333-59G>C (n.-333-59G>C)
c.99-1G>C (n.99-1G>C)
c.134G>C (p.Ser45Thr)
11g.71444120C>TCA381696555DHCR7c.194G>A (p.Ser65Asn)
c.20G>A (p.Ser7Asn)
n.471G>A
c.-333-59G>A (n.-333-59G>A)
c.99-1G>A (n.99-1G>A)
c.134G>A (p.Ser45Asn)
 gnomAD v4
11g.71444123_71444218delCA2580084825DHCR7c.99_194del
c.-76_20del
n.376_471del
c.-333-154_-333-59del (n.-333-154_-333-59del)
c.99-96_99-1del (n.99-96_99-1del)
c.39_134del (p.Arg13_Tyr44del)
 ClinVar
11g.71444121T>ACA381696560DHCR7c.193A>T (p.Ser65Cys)
c.19A>T (p.Ser7Cys)
n.470A>T
c.-333-60A>T (n.-333-60A>T)
c.99-2A>T (n.99-2A>T)
c.133A>T (p.Ser45Cys)
11g.71444121T>CCA381696557DHCR7c.193A>G (p.Ser65Gly)
c.19A>G (p.Ser7Gly)
n.470A>G
c.-333-60A>G (n.-333-60A>G)
c.99-2A>G (n.99-2A>G)
c.133A>G (p.Ser45Gly)
 gnomAD v4
11g.71444121T>GCA381696559DHCR7c.193A>C (p.Ser65Arg)
c.19A>C (p.Ser7Arg)
n.470A>C
c.-333-60A>C (n.-333-60A>C)
c.99-2A>C (n.99-2A>C)
c.133A>C (p.Ser45Arg)
11g.71444122G>ACA475520547DHCR7c.192C>T (p.Tyr64=)
c.18C>T (p.Tyr6=)
n.469C>T
c.-333-61C>T (n.-333-61C>T)
c.99-3C>T (n.99-3C>T)
c.132C>T (p.Tyr44=)
 ClinVar dbSNP gnomAD v4
11g.71444122G>CCA381696561DHCR7c.192C>G (p.Tyr64Ter)
c.18C>G (p.Tyr6Ter)
n.469C>G
c.-333-61C>G (n.-333-61C>G)
c.99-3C>G (n.99-3C>G)
c.132C>G (p.Tyr44Ter)
 gnomAD v4
11g.71444122G=CA1981491073DHCR7c.192C= (p.Tyr64=)
c.18C= (p.Tyr6=)
n.469C=
c.-333-61C= (n.-333-61C=)
c.99-3C= (n.99-3C=)
c.132C= (p.Tyr44=)
11g.71444122G>TCA381696562DHCR7c.192C>A (p.Tyr64Ter)
c.18C>A (p.Tyr6Ter)
n.469C>A
c.-333-61C>A (n.-333-61C>A)
c.99-3C>A (n.99-3C>A)
c.132C>A (p.Tyr44Ter)
11g.71444123T>ACA381696563DHCR7c.191A>T (p.Tyr64Phe)
c.17A>T (p.Tyr6Phe)
n.468A>T
c.-333-62A>T (n.-333-62A>T)
c.99-4A>T (n.99-4A>T)
c.131A>T (p.Tyr44Phe)
11g.71444123T>CCA381696564DHCR7c.191A>G (p.Tyr64Cys)
c.17A>G (p.Tyr6Cys)
n.468A>G
c.-333-62A>G (n.-333-62A>G)
c.99-4A>G (n.99-4A>G)
c.131A>G (p.Tyr44Cys)
11g.71444123T>GCA381696565DHCR7c.191A>C (p.Tyr64Ser)
c.17A>C (p.Tyr6Ser)
n.468A>C
c.-333-62A>C (n.-333-62A>C)
c.99-4A>C (n.99-4A>C)
c.131A>C (p.Tyr44Ser)
11g.71444124A>CCA381696566DHCR7c.190T>G (p.Tyr64Asp)
c.16T>G (p.Tyr6Asp)
n.467T>G
c.-333-63T>G (n.-333-63T>G)
c.99-5T>G (n.99-5T>G)
c.130T>G (p.Tyr44Asp)
11g.71444124A>GCA381696568DHCR7c.190T>C (p.Tyr64His)
c.16T>C (p.Tyr6His)
n.467T>C
c.-333-63T>C (n.-333-63T>C)
c.99-5T>C (n.99-5T>C)
c.130T>C (p.Tyr44His)
11g.71444124A>TCA381696567DHCR7c.190T>A (p.Tyr64Asn)
c.16T>A (p.Tyr6Asn)
n.467T>A
c.-333-63T>A (n.-333-63T>A)
c.99-5T>A (n.99-5T>A)
c.130T>A (p.Tyr44Asn)
11g.71444125C>ACA224280863DHCR7c.189G>T (p.Gln63His)
c.15G>T (p.Gln5His)
n.466G>T
c.-333-64G>T (n.-333-64G>T)
c.99-6G>T (n.99-6G>T)
c.129G>T (p.Gln43His)
 dbSNP gnomAD v4
11g.71444125C=CA1630855230DHCR7c.189G= (p.Gln63=)
c.15G= (p.Gln5=)
n.466G=
c.-333-64G= (n.-333-64G=)
c.99-6G= (n.99-6G=)
c.129G= (p.Gln43=)
11g.71444125C>GCA381696569DHCR7c.189G>C (p.Gln63His)
c.15G>C (p.Gln5His)
n.466G>C
c.-333-64G>C (n.-333-64G>C)
c.99-6G>C (n.99-6G>C)
c.129G>C (p.Gln43His)
11g.71444125C>TCA147239DHCR7c.189G>A (p.Gln63=)
c.15G>A (p.Gln5=)
n.466G>A
c.-333-64G>A (n.-333-64G>A)
c.99-6G>A (n.99-6G>A)
c.129G>A (p.Gln43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444126T>ACA381696570DHCR7c.188A>T (p.Gln63Leu)
c.14A>T (p.Gln5Leu)
n.465A>T
c.-333-65A>T (n.-333-65A>T)
c.99-7A>T (n.99-7A>T)
c.128A>T (p.Gln43Leu)
11g.71444126T>CCA381696571DHCR7c.188A>G (p.Gln63Arg)
c.14A>G (p.Gln5Arg)
n.465A>G
c.-333-65A>G (n.-333-65A>G)
c.99-7A>G (n.99-7A>G)
c.128A>G (p.Gln43Arg)
11g.71444126T>GCA381696572DHCR7c.188A>C (p.Gln63Pro)
c.14A>C (p.Gln5Pro)
n.465A>C
c.-333-65A>C (n.-333-65A>C)
c.99-7A>C (n.99-7A>C)
c.128A>C (p.Gln43Pro)
11g.71444127G>ACA381696573DHCR7c.187C>T (p.Gln63Ter)
c.13C>T (p.Gln5Ter)
n.464C>T
c.-333-66C>T (n.-333-66C>T)
c.99-8C>T (n.99-8C>T)
c.127C>T (p.Gln43Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71444127G>CCA381696574DHCR7c.187C>G (p.Gln63Glu)
c.13C>G (p.Gln5Glu)
n.464C>G
c.-333-66C>G (n.-333-66C>G)
c.99-8C>G (n.99-8C>G)
c.127C>G (p.Gln43Glu)
11g.71444127G=CA1981491074DHCR7c.187C= (p.Gln63=)
c.13C= (p.Gln5=)
n.464C=
c.-333-66C= (n.-333-66C=)
c.99-8C= (n.99-8C=)
c.127C= (p.Gln43=)
11g.71444127G>TCA381696575DHCR7c.187C>A (p.Gln63Lys)
c.13C>A (p.Gln5Lys)
n.464C>A
c.-333-66C>A (n.-333-66C>A)
c.99-8C>A (n.99-8C>A)
c.127C>A (p.Gln43Lys)
 gnomAD v4
11g.71444128delCA2739270665DHCR7c.187del (p.Gln63SerfsTer6)
c.13del (p.Gln5SerfsTer6)
n.464del
c.-333-66del (n.-333-66del)
c.99-8del (n.99-8del)
c.127del (p.Gln43SerfsTer6)
 ClinVar
11g.71444128G>ACA6162668DHCR7c.186C>T (p.Asp62=)
c.12C>T (p.Asp4=)
n.463C>T
c.-333-67C>T (n.-333-67C>T)
c.99-9C>T (n.99-9C>T)
c.126C>T (p.Asp42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444128G>CCA381696576DHCR7c.186C>G (p.Asp62Glu)
c.12C>G (p.Asp4Glu)
n.463C>G
c.-333-67C>G (n.-333-67C>G)
c.99-9C>G (n.99-9C>G)
c.126C>G (p.Asp42Glu)
11g.71444128G=CA1981491075DHCR7c.186C= (p.Asp62=)
c.12C= (p.Asp4=)
n.463C=
c.-333-67C= (n.-333-67C=)
c.99-9C= (n.99-9C=)
c.126C= (p.Asp42=)
11g.71444128G>TCA381696577DHCR7c.186C>A (p.Asp62Glu)
c.12C>A (p.Asp4Glu)
n.463C>A
c.-333-67C>A (n.-333-67C>A)
c.99-9C>A (n.99-9C>A)
c.126C>A (p.Asp42Glu)
11g.71444129T>ACA6162669DHCR7c.185A>T (p.Asp62Val)
c.11A>T (p.Asp4Val)
n.462A>T
c.-333-68A>T (n.-333-68A>T)
c.99-10A>T (n.99-10A>T)
c.125A>T (p.Asp42Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71444129T>CCA381696579DHCR7c.185A>G (p.Asp62Gly)
c.11A>G (p.Asp4Gly)
n.462A>G
c.-333-68A>G (n.-333-68A>G)
c.99-10A>G (n.99-10A>G)
c.125A>G (p.Asp42Gly)
11g.71444129T>GCA381696578DHCR7c.185A>C (p.Asp62Ala)
c.11A>C (p.Asp4Ala)
n.462A>C
c.-333-68A>C (n.-333-68A>C)
c.99-10A>C (n.99-10A>C)
c.125A>C (p.Asp42Ala)
11g.71444129T=CA1981491076DHCR7c.185A= (p.Asp62=)
c.11A= (p.Asp4=)
n.462A=
c.-333-68A= (n.-333-68A=)
c.99-10A= (n.99-10A=)
c.125A= (p.Asp42=)
11g.71444130C>ACA381696580DHCR7c.184G>T (p.Asp62Tyr)
c.10G>T (p.Asp4Tyr)
n.461G>T
c.-333-69G>T (n.-333-69G>T)
c.99-11G>T (n.99-11G>T)
c.124G>T (p.Asp42Tyr)
 gnomAD v4
11g.71444130C>GCA381696581DHCR7c.184G>C (p.Asp62His)
c.10G>C (p.Asp4His)
n.461G>C
c.-333-69G>C (n.-333-69G>C)
c.99-11G>C (n.99-11G>C)
c.124G>C (p.Asp42His)
 gnomAD v4
11g.71444130C>TCA381696582DHCR7c.184G>A (p.Asp62Asn)
c.10G>A (p.Asp4Asn)
n.461G>A
c.-333-69G>A (n.-333-69G>A)
c.99-11G>A (n.99-11G>A)
c.124G>A (p.Asp42Asn)
11g.71444131A>CCA381696583DHCR7c.183T>G (p.Cys61Trp)
c.9T>G (p.Cys3Trp)
n.460T>G
c.-333-70T>G (n.-333-70T>G)
c.99-12T>G (n.99-12T>G)
c.123T>G (p.Cys41Trp)
11g.71444131A>GCA475520548DHCR7c.183T>C (p.Cys61=)
c.9T>C (p.Cys3=)
n.460T>C
c.-333-70T>C (n.-333-70T>C)
c.99-12T>C (n.99-12T>C)
c.123T>C (p.Cys41=)
11g.71444131A>TCA381696584DHCR7c.183T>A (p.Cys61Ter)
c.9T>A (p.Cys3Ter)
n.460T>A
c.-333-70T>A (n.-333-70T>A)
c.99-12T>A (n.99-12T>A)
c.123T>A (p.Cys41Ter)
11g.71444132C>ACA6162670DHCR7c.182G>T (p.Cys61Phe)
c.8G>T (p.Cys3Phe)
n.459G>T
c.-333-71G>T (n.-333-71G>T)
c.99-13G>T (n.99-13G>T)
c.122G>T (p.Cys41Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444132C=CA1981491077DHCR7c.182G= (p.Cys61=)
c.8G= (p.Cys3=)
n.459G=
c.-333-71G= (n.-333-71G=)
c.99-13G= (n.99-13G=)
c.122G= (p.Cys41=)
11g.71444132C>GCA381696586DHCR7c.182G>C (p.Cys61Ser)
c.8G>C (p.Cys3Ser)
n.459G>C
c.-333-71G>C (n.-333-71G>C)
c.99-13G>C (n.99-13G>C)
c.122G>C (p.Cys41Ser)
11g.71444132C>TCA381696585DHCR7c.182G>A (p.Cys61Tyr)
c.8G>A (p.Cys3Tyr)
n.459G>A
c.-333-71G>A (n.-333-71G>A)
c.99-13G>A (n.99-13G>A)
c.122G>A (p.Cys41Tyr)
 gnomAD v4
11g.71444133A>CCA381696587DHCR7c.181T>G (p.Cys61Gly)
c.7T>G (p.Cys3Gly)
n.458T>G
c.-333-72T>G (n.-333-72T>G)
c.99-14T>G (n.99-14T>G)
c.121T>G (p.Cys41Gly)
11g.71444133A>GCA381696588DHCR7c.181T>C (p.Cys61Arg)
c.7T>C (p.Cys3Arg)
n.458T>C
c.-333-72T>C (n.-333-72T>C)
c.99-14T>C (n.99-14T>C)
c.121T>C (p.Cys41Arg)
11g.71444133A>TCA381696589DHCR7c.181T>A (p.Cys61Ser)
c.7T>A (p.Cys3Ser)
n.458T>A
c.-333-72T>A (n.-333-72T>A)
c.99-14T>A (n.99-14T>A)
c.121T>A (p.Cys41Ser)
11g.71444134A>CCA475520549DHCR7c.180T>G (p.Ala60=)
c.6T>G (p.Ala2=)
n.457T>G
c.-333-73T>G (n.-333-73T>G)
c.99-15T>G (n.99-15T>G)
c.120T>G (p.Ala40=)
11g.71444134A>GCA475520551DHCR7c.180T>C (p.Ala60=)
c.6T>C (p.Ala2=)
n.457T>C
c.-333-73T>C (n.-333-73T>C)
c.99-15T>C (n.99-15T>C)
c.120T>C (p.Ala40=)
11g.71444134A>TCA475520550DHCR7c.180T>A (p.Ala60=)
c.6T>A (p.Ala2=)
n.457T>A
c.-333-73T>A (n.-333-73T>A)
c.99-15T>A (n.99-15T>A)
c.120T>A (p.Ala40=)
11g.71444135G>ACA381696590DHCR7c.179C>T (p.Ala60Val)
c.5C>T (p.Ala2Val)
n.456C>T
c.-333-74C>T (n.-333-74C>T)
c.99-16C>T (n.99-16C>T)
c.119C>T (p.Ala40Val)
 dbSNP gnomAD v2 gnomAD v4
11g.71444135G>CCA381696591DHCR7c.179C>G (p.Ala60Gly)
c.5C>G (p.Ala2Gly)
n.456C>G
c.-333-74C>G (n.-333-74C>G)
c.99-16C>G (n.99-16C>G)
c.119C>G (p.Ala40Gly)
11g.71444135G=CA1981491078DHCR7c.179C= (p.Ala60=)
c.5C= (p.Ala2=)
n.456C=
c.-333-74C= (n.-333-74C=)
c.99-16C= (n.99-16C=)
c.119C= (p.Ala40=)
11g.71444135G>TCA381696592DHCR7c.179C>A (p.Ala60Asp)
c.5C>A (p.Ala2Asp)
n.456C>A
c.-333-74C>A (n.-333-74C>A)
c.99-16C>A (n.99-16C>A)
c.119C>A (p.Ala40Asp)
11g.71444136C>ACA381696593DHCR7c.178G>T (p.Ala60Ser)
c.4G>T (p.Ala2Ser)
n.455G>T
c.-333-75G>T (n.-333-75G>T)
c.99-17G>T (n.99-17G>T)
c.118G>T (p.Ala40Ser)
 gnomAD v4
11g.71444136C>GCA381696595DHCR7c.178G>C (p.Ala60Pro)
c.4G>C (p.Ala2Pro)
n.455G>C
c.-333-75G>C (n.-333-75G>C)
c.99-17G>C (n.99-17G>C)
c.118G>C (p.Ala40Pro)
11g.71444136C>TCA381696594DHCR7c.178G>A (p.Ala60Thr)
c.4G>A (p.Ala2Thr)
n.455G>A
c.-333-75G>A (n.-333-75G>A)
c.99-17G>A (n.99-17G>A)
c.118G>A (p.Ala40Thr)
11g.71444136_71444137delinsACA2580084826DHCR7c.177_178delinsT (p.Met59IlefsTer10)
c.3_4delinsT (p.Met1IlefsTer10)
n.454_455delinsT
c.-333-76_-333-75delinsT (n.-333-76_-333-75delinsT)
c.99-18_99-17delinsT (n.99-18_99-17delinsT)
c.117_118delinsT (p.Met39IlefsTer10)
 ClinVar
11g.71444137C>ACA381696596DHCR7c.177G>T (p.Met59Ile)
c.3G>T (p.Met1Ile)
n.454G>T
c.-333-76G>T (n.-333-76G>T)
c.99-18G>T (n.99-18G>T)
c.117G>T (p.Met39Ile)
11g.71444137C>GCA381696597DHCR7c.177G>C (p.Met59Ile)
c.3G>C (p.Met1Ile)
n.454G>C
c.-333-76G>C (n.-333-76G>C)
c.99-18G>C (n.99-18G>C)
c.117G>C (p.Met39Ile)
11g.71444137C>TCA381696598DHCR7c.177G>A (p.Met59Ile)
c.3G>A (p.Met1Ile)
n.454G>A
c.-333-76G>A (n.-333-76G>A)
c.99-18G>A (n.99-18G>A)
c.117G>A (p.Met39Ile)
11g.71444138A=CA1981491079DHCR7c.176T= (p.Met59=)
c.2T= (p.Met1=)
n.453T=
c.-333-77T= (n.-333-77T=)
c.99-19T= (n.99-19T=)
c.116T= (p.Met39=)
11g.71444138A>CCA224280873DHCR7c.176T>G (p.Met59Arg)
c.2T>G (p.Met1Arg)
n.453T>G
c.-333-77T>G (n.-333-77T>G)
c.99-19T>G (n.99-19T>G)
c.116T>G (p.Met39Arg)
 dbSNP
11g.71444138A>GCA381696599DHCR7c.176T>C (p.Met59Thr)
c.2T>C (p.Met1Thr)
n.453T>C
c.-333-77T>C (n.-333-77T>C)
c.99-19T>C (n.99-19T>C)
c.116T>C (p.Met39Thr)
 gnomAD v4
11g.71444138A>TCA381696600DHCR7c.176T>A (p.Met59Lys)
c.2T>A (p.Met1Lys)
n.453T>A
c.-333-77T>A (n.-333-77T>A)
c.99-19T>A (n.99-19T>A)
c.116T>A (p.Met39Lys)
11g.71444139T>ACA381696601DHCR7c.175A>T (p.Met59Leu)
c.1A>T (p.Met1Leu)
n.452A>T
c.-333-78A>T (n.-333-78A>T)
c.99-20A>T (n.99-20A>T)
c.115A>T (p.Met39Leu)
11g.71444139T>CCA381696602DHCR7c.175A>G (p.Met59Val)
c.1A>G (p.Met1Val)
n.452A>G
c.-333-78A>G (n.-333-78A>G)
c.99-20A>G (n.99-20A>G)
c.115A>G (p.Met39Val)
11g.71444139T>GCA381696603DHCR7c.175A>C (p.Met59Leu)
c.1A>C (p.Met1Leu)
n.452A>C
c.-333-78A>C (n.-333-78A>C)
c.99-20A>C (n.99-20A>C)
c.115A>C (p.Met39Leu)
11g.71444140G>ACA475520554DHCR7c.174C>T (p.Ile58=)
c.-1C>T (n.-1C>T)
n.451C>T
c.-333-79C>T (n.-333-79C>T)
c.99-21C>T (n.99-21C>T)
c.114C>T (p.Ile38=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71444140G>CCA381696604DHCR7c.174C>G (p.Ile58Met)
c.-1C>G (n.-1C>G)
n.451C>G
c.-333-79C>G (n.-333-79C>G)
c.99-21C>G (n.99-21C>G)
c.114C>G (p.Ile38Met)
11g.71444140G=CA1981491080DHCR7c.174C= (p.Ile58=)
c.-1C= (n.-1C=)
n.451C=
c.-333-79C= (n.-333-79C=)
c.99-21C= (n.99-21C=)
c.114C= (p.Ile38=)
11g.71444140G>TCA475520555DHCR7c.174C>A (p.Ile58=)
c.-1C>A (n.-1C>A)
n.451C>A
c.-333-79C>A (n.-333-79C>A)
c.99-21C>A (n.99-21C>A)
c.114C>A (p.Ile38=)
 dbSNP gnomAD v2 gnomAD v4
11g.71444141A=CA1981491081DHCR7c.173T= (p.Ile58=)
c.-2T= (n.-2T=)
n.450T=
c.-333-80T= (n.-333-80T=)
c.99-22T= (n.99-22T=)
c.113T= (p.Ile38=)
11g.71444141A>CCA381696606DHCR7c.173T>G (p.Ile58Ser)
c.-2T>G (n.-2T>G)
n.450T>G
c.-333-80T>G (n.-333-80T>G)
c.99-22T>G (n.99-22T>G)
c.113T>G (p.Ile38Ser)
11g.71444141A>GCA381696605DHCR7c.173T>C (p.Ile58Thr)
c.-2T>C (n.-2T>C)
n.450T>C
c.-333-80T>C (n.-333-80T>C)
c.99-22T>C (n.99-22T>C)
c.113T>C (p.Ile38Thr)
11g.71444141A>TCA224280876DHCR7c.173T>A (p.Ile58Asn)
c.-2T>A (n.-2T>A)
n.450T>A
c.-333-80T>A (n.-333-80T>A)
c.99-22T>A (n.99-22T>A)
c.113T>A (p.Ile38Asn)
 dbSNP gnomAD v4
11g.71444142T>ACA6162671DHCR7c.172A>T (p.Ile58Phe)
c.-3A>T (n.-3A>T)
n.449A>T
c.-333-81A>T (n.-333-81A>T)
c.99-23A>T (n.99-23A>T)
c.112A>T (p.Ile38Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71444142T>CCA224280880DHCR7c.172A>G (p.Ile58Val)
c.-3A>G (n.-3A>G)
n.449A>G
c.-333-81A>G (n.-333-81A>G)
c.99-23A>G (n.99-23A>G)
c.112A>G (p.Ile38Val)
 dbSNP gnomAD v2
11g.71444142T>GCA381696607DHCR7c.172A>C (p.Ile58Leu)
c.-3A>C (n.-3A>C)
n.449A>C
c.-333-81A>C (n.-333-81A>C)
c.99-23A>C (n.99-23A>C)
c.112A>C (p.Ile38Leu)
11g.71444142T=CA1981491082DHCR7c.172A= (p.Ile58=)
c.-3A= (n.-3A=)
n.449A=
c.-333-81A= (n.-333-81A=)
c.99-23A= (n.99-23A=)
c.112A= (p.Ile38=)

Number of alleles fetched