Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.196995786_196995787delinsAA | CA1143582895 | CFHR5 | c.422_423delinsAA (p.Glu141=) n.746_747delinsAA c.-24-328_-24-327delinsAA (n.-24-328_-24-327delinsAA) c.677_678delinsAA (p.Glu226=) c.686_687delinsAA (p.Glu229=) | |
1 | g.196995787del | CA1307833 | CFHR5 | c.423del (p.Glu141AspfsTer7) n.747del c.-24-327del (n.-24-327del) c.678del (p.Glu226AspfsTer7) c.687del (p.Glu229AspfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995787A= | CA1217885048 | CFHR5 | c.423A= (p.Glu141=) n.747A= c.-24-327A= (n.-24-327A=) c.678A= (p.Glu226=) c.687A= (p.Glu229=) | |
1 | g.196995787A>C | CA1307834 | CFHR5 | c.423A>C (p.Glu141Asp) n.747A>C c.-24-327A>C (n.-24-327A>C) c.678A>C (p.Glu226Asp) c.687A>C (p.Glu229Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995787A>G | CA422802699 | CFHR5 | c.423A>G (p.Glu141=) n.747A>G c.-24-327A>G (n.-24-327A>G) c.678A>G (p.Glu226=) c.687A>G (p.Glu229=) | |
1 | g.196995787A>T | CA344004744 | CFHR5 | c.423A>T (p.Glu141Asp) n.747A>T c.-24-327A>T (n.-24-327A>T) c.678A>T (p.Glu226Asp) c.687A>T (p.Glu229Asp) | |
1 | g.196995788T>A | CA344004752 | CFHR5 | c.424T>A (p.Tyr142Asn) n.748T>A c.-24-326T>A (n.-24-326T>A) c.679T>A (p.Tyr227Asn) c.688T>A (p.Tyr230Asn) | |
1 | g.196995788T>C | CA344004750 | CFHR5 | c.424T>C (p.Tyr142His) n.748T>C c.-24-326T>C (n.-24-326T>C) c.679T>C (p.Tyr227His) c.688T>C (p.Tyr230His) | |
1 | g.196995788T>G | CA344004747 | CFHR5 | c.424T>G (p.Tyr142Asp) n.748T>G c.-24-326T>G (n.-24-326T>G) c.679T>G (p.Tyr227Asp) c.688T>G (p.Tyr230Asp) | |
1 | g.196995789A= | CA1217885049 | CFHR5 | c.425A= (p.Tyr142=) n.749A= c.-24-325A= (n.-24-325A=) c.680A= (p.Tyr227=) c.689A= (p.Tyr230=) | |
1 | g.196995789A>C | CA344004754 | CFHR5 | c.425A>C (p.Tyr142Ser) n.749A>C c.-24-325A>C (n.-24-325A>C) c.680A>C (p.Tyr227Ser) c.689A>C (p.Tyr230Ser) | |
1 | g.196995789A>G | CA344004755 | CFHR5 | c.425A>G (p.Tyr142Cys) n.749A>G c.-24-325A>G (n.-24-325A>G) c.680A>G (p.Tyr227Cys) c.689A>G (p.Tyr230Cys) | dbSNP |
1 | g.196995789A>T | CA344004757 | CFHR5 | c.425A>T (p.Tyr142Phe) n.749A>T c.-24-325A>T (n.-24-325A>T) c.680A>T (p.Tyr227Phe) c.689A>T (p.Tyr230Phe) | |
1 | g.196995790T>A | CA344004760 | CFHR5 | c.426T>A (p.Tyr142Ter) n.750T>A c.-24-324T>A (n.-24-324T>A) c.681T>A (p.Tyr227Ter) c.690T>A (p.Tyr230Ter) | |
1 | g.196995790T>C | CA1307835 | CFHR5 | c.426T>C (p.Tyr142=) n.750T>C c.-24-324T>C (n.-24-324T>C) c.681T>C (p.Tyr227=) c.690T>C (p.Tyr230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995790T>G | CA1307836 | CFHR5 | c.426T>G (p.Tyr142Ter) n.750T>G c.-24-324T>G (n.-24-324T>G) c.681T>G (p.Tyr227Ter) c.690T>G (p.Tyr230Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995790T= | CA1217885050 | CFHR5 | c.426T= (p.Tyr142=) n.750T= c.-24-324T= (n.-24-324T=) c.681T= (p.Tyr227=) c.690T= (p.Tyr230=) | |
1 | g.196995791G>A | CA344004769 | CFHR5 | c.427G>A (p.Gly143Arg) n.751G>A c.-24-323G>A (n.-24-323G>A) c.682G>A (p.Gly228Arg) c.691G>A (p.Gly231Arg) | |
1 | g.196995791G>C | CA344004770 | CFHR5 | c.427G>C (p.Gly143Arg) n.751G>C c.-24-323G>C (n.-24-323G>C) c.682G>C (p.Gly228Arg) c.691G>C (p.Gly231Arg) | |
1 | g.196995791G>T | CA344004773 | CFHR5 | c.427G>T (p.Gly143Ter) n.751G>T c.-24-323G>T (n.-24-323G>T) c.682G>T (p.Gly228Ter) c.691G>T (p.Gly231Ter) | |
1 | g.196995792G>A | CA344004777 | CFHR5 | c.428G>A (p.Gly143Glu) n.752G>A c.-24-322G>A (n.-24-322G>A) c.683G>A (p.Gly228Glu) c.692G>A (p.Gly231Glu) | |
1 | g.196995792G>C | CA1307837 | CFHR5 | c.428G>C (p.Gly143Ala) n.752G>C c.-24-322G>C (n.-24-322G>C) c.683G>C (p.Gly228Ala) c.692G>C (p.Gly231Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995792G= | CA1144174593 | CFHR5 | c.428G= (p.Gly143=) n.752G= c.-24-322G= (n.-24-322G=) c.683G= (p.Gly228=) c.692G= (p.Gly231=) | |
1 | g.196995792G>T | CA344004779 | CFHR5 | c.428G>T (p.Gly143Val) n.752G>T c.-24-322G>T (n.-24-322G>T) c.683G>T (p.Gly228Val) c.692G>T (p.Gly231Val) | |
1 | g.196995793A= | CA1217885051 | CFHR5 | c.429A= (p.Gly143=) n.753A= c.-24-321A= (n.-24-321A=) c.684A= (p.Gly228=) c.693A= (p.Gly231=) | |
1 | g.196995793A>C | CA422802706 | CFHR5 | c.429A>C (p.Gly143=) n.753A>C c.-24-321A>C (n.-24-321A>C) c.684A>C (p.Gly228=) c.693A>C (p.Gly231=) | |
1 | g.196995793A>G | CA422802707 | CFHR5 | c.429A>G (p.Gly143=) n.753A>G c.-24-321A>G (n.-24-321A>G) c.684A>G (p.Gly228=) c.693A>G (p.Gly231=) | dbSNP gnomAD v2 |
1 | g.196995793A>T | CA422802708 | CFHR5 | c.429A>T (p.Gly143=) n.753A>T c.-24-321A>T (n.-24-321A>T) c.684A>T (p.Gly228=) c.693A>T (p.Gly231=) | |
1 | g.196995794C>A | CA344004785 | CFHR5 | c.430C>A (p.His144Asn) n.754C>A c.-24-320C>A (n.-24-320C>A) c.685C>A (p.His229Asn) c.694C>A (p.His232Asn) | |
1 | g.196995794C= | CA1217885052 | CFHR5 | c.430C= (p.His144=) n.754C= c.-24-320C= (n.-24-320C=) c.685C= (p.His229=) c.694C= (p.His232=) | |
1 | g.196995794C>G | CA344004787 | CFHR5 | c.430C>G (p.His144Asp) n.754C>G c.-24-320C>G (n.-24-320C>G) c.685C>G (p.His229Asp) c.694C>G (p.His232Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995794C>T | CA344004783 | CFHR5 | c.430C>T (p.His144Tyr) n.754C>T c.-24-320C>T (n.-24-320C>T) c.685C>T (p.His229Tyr) c.694C>T (p.His232Tyr) | |
1 | g.196995795A>C | CA344004790 | CFHR5 | c.431A>C (p.His144Pro) n.755A>C c.-24-319A>C (n.-24-319A>C) c.686A>C (p.His229Pro) c.695A>C (p.His232Pro) | |
1 | g.196995795A>G | CA344004792 | CFHR5 | c.431A>G (p.His144Arg) n.755A>G c.-24-319A>G (n.-24-319A>G) c.686A>G (p.His229Arg) c.695A>G (p.His232Arg) | |
1 | g.196995795A>T | CA344004793 | CFHR5 | c.431A>T (p.His144Leu) n.755A>T c.-24-319A>T (n.-24-319A>T) c.686A>T (p.His229Leu) c.695A>T (p.His232Leu) | |
1 | g.196995796C>A | CA344004796 | CFHR5 | c.432C>A (p.His144Gln) n.756C>A c.-24-318C>A (n.-24-318C>A) c.687C>A (p.His229Gln) c.696C>A (p.His232Gln) | COSMIC COSMIC |
1 | g.196995796C>G | CA344004798 | CFHR5 | c.432C>G (p.His144Gln) n.756C>G c.-24-318C>G (n.-24-318C>G) c.687C>G (p.His229Gln) c.696C>G (p.His232Gln) | |
1 | g.196995796C>T | CA422802714 | CFHR5 | c.432C>T (p.His144=) n.756C>T c.-24-318C>T (n.-24-318C>T) c.687C>T (p.His229=) c.696C>T (p.His232=) | |
1 | g.196995797A= | CA1217885053 | CFHR5 | c.433A= (p.Asn145=) n.757A= c.-24-317A= (n.-24-317A=) c.688A= (p.Asn230=) c.697A= (p.Asn233=) | |
1 | g.196995797A>C | CA344004805 | CFHR5 | c.433A>C (p.Asn145His) n.757A>C c.-24-317A>C (n.-24-317A>C) c.688A>C (p.Asn230His) c.697A>C (p.Asn233His) | gnomAD v4 |
1 | g.196995797A>G | CA344004801 | CFHR5 | c.433A>G (p.Asn145Asp) n.757A>G c.-24-317A>G (n.-24-317A>G) c.688A>G (p.Asn230Asp) c.697A>G (p.Asn233Asp) | dbSNP gnomAD v4 |
1 | g.196995797A>T | CA344004803 | CFHR5 | c.433A>T (p.Asn145Tyr) n.757A>T c.-24-317A>T (n.-24-317A>T) c.688A>T (p.Asn230Tyr) c.697A>T (p.Asn233Tyr) | |
1 | g.196995798A= | CA1217885054 | CFHR5 | c.434A= (p.Asn145=) n.758A= c.-24-316A= (n.-24-316A=) c.689A= (p.Asn230=) c.698A= (p.Asn233=) | |
1 | g.196995798A>C | CA344004808 | CFHR5 | c.434A>C (p.Asn145Thr) n.758A>C c.-24-316A>C (n.-24-316A>C) c.689A>C (p.Asn230Thr) c.698A>C (p.Asn233Thr) | |
1 | g.196995798A>G | CA344004809 | CFHR5 | c.434A>G (p.Asn145Ser) n.758A>G c.-24-316A>G (n.-24-316A>G) c.689A>G (p.Asn230Ser) c.698A>G (p.Asn233Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995798A>T | CA344004810 | CFHR5 | c.434A>T (p.Asn145Ile) n.758A>T c.-24-316A>T (n.-24-316A>T) c.689A>T (p.Asn230Ile) c.698A>T (p.Asn233Ile) | |
1 | g.196995799T>A | CA1307838 | CFHR5 | c.435T>A (p.Asn145Lys) n.759T>A c.-24-315T>A (n.-24-315T>A) c.690T>A (p.Asn230Lys) c.699T>A (p.Asn233Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995799T>C | CA422802716 | CFHR5 | c.435T>C (p.Asn145=) n.759T>C c.-24-315T>C (n.-24-315T>C) c.690T>C (p.Asn230=) c.699T>C (p.Asn233=) | gnomAD v4 |
1 | g.196995799T>G | CA344004812 | CFHR5 | c.435T>G (p.Asn145Lys) n.759T>G c.-24-315T>G (n.-24-315T>G) c.690T>G (p.Asn230Lys) c.699T>G (p.Asn233Lys) | |
1 | g.196995799T= | CA1217885055 | CFHR5 | c.435T= (p.Asn145=) n.759T= c.-24-315T= (n.-24-315T=) c.690T= (p.Asn230=) c.699T= (p.Asn233=) | |
1 | g.196995800G>A | CA344004814 | CFHR5 | c.436G>A (p.Glu146Lys) n.760G>A c.-24-314G>A (n.-24-314G>A) c.691G>A (p.Glu231Lys) c.700G>A (p.Glu234Lys) | gnomAD v4 |
1 | g.196995800G>C | CA344004819 | CFHR5 | c.436G>C (p.Glu146Gln) n.760G>C c.-24-314G>C (n.-24-314G>C) c.691G>C (p.Glu231Gln) c.700G>C (p.Glu234Gln) | |
1 | g.196995800G>T | CA344004818 | CFHR5 | c.436G>T (p.Glu146Ter) n.760G>T c.-24-314G>T (n.-24-314G>T) c.691G>T (p.Glu231Ter) c.700G>T (p.Glu234Ter) | |
1 | g.196995801A>C | CA344004821 | CFHR5 | c.437A>C (p.Glu146Ala) n.761A>C c.-24-313A>C (n.-24-313A>C) c.692A>C (p.Glu231Ala) c.701A>C (p.Glu234Ala) | |
1 | g.196995801A>G | CA344004823 | CFHR5 | c.437A>G (p.Glu146Gly) n.761A>G c.-24-313A>G (n.-24-313A>G) c.692A>G (p.Glu231Gly) c.701A>G (p.Glu234Gly) | |
1 | g.196995801A>T | CA344004824 | CFHR5 | c.437A>T (p.Glu146Val) n.761A>T c.-24-313A>T (n.-24-313A>T) c.692A>T (p.Glu231Val) c.701A>T (p.Glu234Val) | |
1 | g.196995802A>C | CA344004826 | CFHR5 | c.438A>C (p.Glu146Asp) n.762A>C c.-24-312A>C (n.-24-312A>C) c.693A>C (p.Glu231Asp) c.702A>C (p.Glu234Asp) | |
1 | g.196995802A>G | CA422802720 | CFHR5 | c.438A>G (p.Glu146=) n.762A>G c.-24-312A>G (n.-24-312A>G) c.693A>G (p.Glu231=) c.702A>G (p.Glu234=) | |
1 | g.196995802A>T | CA344004829 | CFHR5 | c.438A>T (p.Glu146Asp) n.762A>T c.-24-312A>T (n.-24-312A>T) c.693A>T (p.Glu231Asp) c.702A>T (p.Glu234Asp) | |
1 | g.196995803G>A | CA344004832 | CFHR5 | c.439G>A (p.Val147Ile) n.763G>A c.-24-311G>A (n.-24-311G>A) c.694G>A (p.Val232Ile) c.703G>A (p.Val235Ile) | gnomAD v4 |
1 | g.196995803G>C | CA344004833 | CFHR5 | c.439G>C (p.Val147Leu) n.763G>C c.-24-311G>C (n.-24-311G>C) c.694G>C (p.Val232Leu) c.703G>C (p.Val235Leu) | |
1 | g.196995803G>T | CA344004834 | CFHR5 | c.439G>T (p.Val147Leu) n.763G>T c.-24-311G>T (n.-24-311G>T) c.694G>T (p.Val232Leu) c.703G>T (p.Val235Leu) | |
1 | g.196995804T>A | CA344004836 | CFHR5 | c.440T>A (p.Val147Glu) n.764T>A c.-24-310T>A (n.-24-310T>A) c.695T>A (p.Val232Glu) c.704T>A (p.Val235Glu) | |
1 | g.196995804T>C | CA344004838 | CFHR5 | c.440T>C (p.Val147Ala) n.764T>C c.-24-310T>C (n.-24-310T>C) c.695T>C (p.Val232Ala) c.704T>C (p.Val235Ala) | gnomAD v4 |
1 | g.196995804T>G | CA344004839 | CFHR5 | c.440T>G (p.Val147Gly) n.764T>G c.-24-310T>G (n.-24-310T>G) c.695T>G (p.Val232Gly) c.704T>G (p.Val235Gly) | |
1 | g.196995805A= | CA1148259568 | CFHR5 | c.441A= (p.Val147=) n.765A= c.-24-309A= (n.-24-309A=) c.696A= (p.Val232=) c.705A= (p.Val235=) | |
1 | g.196995805A>C | CA422802724 | CFHR5 | c.441A>C (p.Val147=) n.765A>C c.-24-309A>C (n.-24-309A>C) c.696A>C (p.Val232=) c.705A>C (p.Val235=) | |
1 | g.196995805A>G | CA1307839 | CFHR5 | c.441A>G (p.Val147=) n.765A>G c.-24-309A>G (n.-24-309A>G) c.696A>G (p.Val232=) c.705A>G (p.Val235=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995805A>T | CA422802725 | CFHR5 | c.441A>T (p.Val147=) n.765A>T c.-24-309A>T (n.-24-309A>T) c.696A>T (p.Val232=) c.705A>T (p.Val235=) | |
1 | g.196995806G>A | CA344004844 | CFHR5 | c.442G>A (p.Val148Met) n.766G>A c.-24-308G>A (n.-24-308G>A) c.697G>A (p.Val233Met) c.706G>A (p.Val236Met) | |
1 | g.196995806G>C | CA344004846 | CFHR5 | c.442G>C (p.Val148Leu) n.766G>C c.-24-308G>C (n.-24-308G>C) c.697G>C (p.Val233Leu) c.706G>C (p.Val236Leu) | |
1 | g.196995806G>T | CA344004842 | CFHR5 | c.442G>T (p.Val148Leu) n.766G>T c.-24-308G>T (n.-24-308G>T) c.697G>T (p.Val233Leu) c.706G>T (p.Val236Leu) | |
1 | g.196995807T>A | CA344004850 | CFHR5 | c.443T>A (p.Val148Glu) n.767T>A c.-24-307T>A (n.-24-307T>A) c.698T>A (p.Val233Glu) c.707T>A (p.Val236Glu) | |
1 | g.196995807T>C | CA344004849 | CFHR5 | c.443T>C (p.Val148Ala) n.767T>C c.-24-307T>C (n.-24-307T>C) c.698T>C (p.Val233Ala) c.707T>C (p.Val236Ala) | |
1 | g.196995807T>G | CA344004852 | CFHR5 | c.443T>G (p.Val148Gly) n.767T>G c.-24-307T>G (n.-24-307T>G) c.698T>G (p.Val233Gly) c.707T>G (p.Val236Gly) | |
1 | g.196995808G>A | CA422802728 | CFHR5 | c.444G>A (p.Val148=) n.768G>A c.-24-306G>A (n.-24-306G>A) c.699G>A (p.Val233=) c.708G>A (p.Val236=) | COSMIC COSMIC |
1 | g.196995808G>C | CA422802729 | CFHR5 | c.444G>C (p.Val148=) n.768G>C c.-24-306G>C (n.-24-306G>C) c.699G>C (p.Val233=) c.708G>C (p.Val236=) | |
1 | g.196995808G>T | CA422802730 | CFHR5 | c.444G>T (p.Val148=) n.768G>T c.-24-306G>T (n.-24-306G>T) c.699G>T (p.Val233=) c.708G>T (p.Val236=) | |
1 | g.196995809G>A | CA1307840 | CFHR5 | c.445G>A (p.Glu149Lys) n.769G>A c.-24-305G>A (n.-24-305G>A) c.700G>A (p.Glu234Lys) c.709G>A (p.Glu237Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995809G>C | CA344004855 | CFHR5 | c.445G>C (p.Glu149Gln) n.769G>C c.-24-305G>C (n.-24-305G>C) c.700G>C (p.Glu234Gln) c.709G>C (p.Glu237Gln) | |
1 | g.196995809G= | CA1217885056 | CFHR5 | c.445G= (p.Glu149=) n.769G= c.-24-305G= (n.-24-305G=) c.700G= (p.Glu234=) c.709G= (p.Glu237=) | |
1 | g.196995809G>T | CA344004857 | CFHR5 | c.445G>T (p.Glu149Ter) n.769G>T c.-24-305G>T (n.-24-305G>T) c.700G>T (p.Glu234Ter) c.709G>T (p.Glu237Ter) | COSMIC COSMIC |
1 | g.196995810A>C | CA344004859 | CFHR5 | c.446A>C (p.Glu149Ala) n.770A>C c.-24-304A>C (n.-24-304A>C) c.701A>C (p.Glu234Ala) c.710A>C (p.Glu237Ala) | |
1 | g.196995810A>G | CA344004862 | CFHR5 | c.446A>G (p.Glu149Gly) n.770A>G c.-24-304A>G (n.-24-304A>G) c.701A>G (p.Glu234Gly) c.710A>G (p.Glu237Gly) | |
1 | g.196995810A>T | CA344004864 | CFHR5 | c.446A>T (p.Glu149Val) n.770A>T c.-24-304A>T (n.-24-304A>T) c.701A>T (p.Glu234Val) c.710A>T (p.Glu237Val) | |
1 | g.196995811A>C | CA344004865 | CFHR5 | c.447A>C (p.Glu149Asp) n.771A>C c.-24-303A>C (n.-24-303A>C) c.702A>C (p.Glu234Asp) c.711A>C (p.Glu237Asp) | |
1 | g.196995811A>G | CA422802736 | CFHR5 | c.447A>G (p.Glu149=) n.771A>G c.-24-303A>G (n.-24-303A>G) c.702A>G (p.Glu234=) c.711A>G (p.Glu237=) | |
1 | g.196995811A>T | CA344004866 | CFHR5 | c.447A>T (p.Glu149Asp) n.771A>T c.-24-303A>T (n.-24-303A>T) c.702A>T (p.Glu234Asp) c.711A>T (p.Glu237Asp) | |
1 | g.196995812T>A | CA344004867 | CFHR5 | c.448T>A (p.Tyr150Asn) n.772T>A c.-24-302T>A (n.-24-302T>A) c.703T>A (p.Tyr235Asn) c.712T>A (p.Tyr238Asn) | |
1 | g.196995812T>C | CA344004869 | CFHR5 | c.448T>C (p.Tyr150His) n.772T>C c.-24-302T>C (n.-24-302T>C) c.703T>C (p.Tyr235His) c.712T>C (p.Tyr238His) | ClinVar dbSNP |
1 | g.196995812T>G | CA344004871 | CFHR5 | c.448T>G (p.Tyr150Asp) n.772T>G c.-24-302T>G (n.-24-302T>G) c.703T>G (p.Tyr235Asp) c.712T>G (p.Tyr238Asp) | |
1 | g.196995812T= | CA1217885057 | CFHR5 | c.448T= (p.Tyr150=) n.772T= c.-24-302T= (n.-24-302T=) c.703T= (p.Tyr235=) c.712T= (p.Tyr238=) | |
1 | g.196995813A>C | CA344004873 | CFHR5 | c.449A>C (p.Tyr150Ser) n.773A>C c.-24-301A>C (n.-24-301A>C) c.704A>C (p.Tyr235Ser) c.713A>C (p.Tyr238Ser) | |
1 | g.196995813A>G | CA344004874 | CFHR5 | c.449A>G (p.Tyr150Cys) n.773A>G c.-24-301A>G (n.-24-301A>G) c.704A>G (p.Tyr235Cys) c.713A>G (p.Tyr238Cys) | |
1 | g.196995813A>T | CA344004875 | CFHR5 | c.449A>T (p.Tyr150Phe) n.773A>T c.-24-301A>T (n.-24-301A>T) c.704A>T (p.Tyr235Phe) c.713A>T (p.Tyr238Phe) | |
1 | g.196995814T>A | CA344004876 | CFHR5 | c.450T>A (p.Tyr150Ter) n.774T>A c.-24-300T>A (n.-24-300T>A) c.705T>A (p.Tyr235Ter) c.714T>A (p.Tyr238Ter) | |
1 | g.196995814T>C | CA422802741 | CFHR5 | c.450T>C (p.Tyr150=) n.774T>C c.-24-300T>C (n.-24-300T>C) c.705T>C (p.Tyr235=) c.714T>C (p.Tyr238=) | |
1 | g.196995814T>G | CA344004877 | CFHR5 | c.450T>G (p.Tyr150Ter) n.774T>G c.-24-300T>G (n.-24-300T>G) c.705T>G (p.Tyr235Ter) c.714T>G (p.Tyr238Ter) | |
1 | g.196995815G>A | CA35878287 | CFHR5 | c.451G>A (p.Asp151Asn) n.775G>A c.-24-299G>A (n.-24-299G>A) c.706G>A (p.Asp236Asn) c.715G>A (p.Asp239Asn) | dbSNP |
1 | g.196995815G>C | CA344004878 | CFHR5 | c.451G>C (p.Asp151His) n.775G>C c.-24-299G>C (n.-24-299G>C) c.706G>C (p.Asp236His) c.715G>C (p.Asp239His) | |
1 | g.196995815G= | CA1217885058 | CFHR5 | c.451G= (p.Asp151=) n.775G= c.-24-299G= (n.-24-299G=) c.706G= (p.Asp236=) c.715G= (p.Asp239=) | |
1 | g.196995815G>T | CA344004879 | CFHR5 | c.451G>T (p.Asp151Tyr) n.775G>T c.-24-299G>T (n.-24-299G>T) c.706G>T (p.Asp236Tyr) c.715G>T (p.Asp239Tyr) | gnomAD v4 |
1 | g.196995816A= | CA1217885059 | CFHR5 | c.452A= (p.Asp151=) n.776A= c.-24-298A= (n.-24-298A=) c.707A= (p.Asp236=) c.716A= (p.Asp239=) | |
1 | g.196995816A>C | CA344004882 | CFHR5 | c.452A>C (p.Asp151Ala) n.776A>C c.-24-298A>C (n.-24-298A>C) c.707A>C (p.Asp236Ala) c.716A>C (p.Asp239Ala) | |
1 | g.196995816A>G | CA344004883 | CFHR5 | c.452A>G (p.Asp151Gly) n.776A>G c.-24-298A>G (n.-24-298A>G) c.707A>G (p.Asp236Gly) c.716A>G (p.Asp239Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995816A>T | CA344004884 | CFHR5 | c.452A>T (p.Asp151Val) n.776A>T c.-24-298A>T (n.-24-298A>T) c.707A>T (p.Asp236Val) c.716A>T (p.Asp239Val) | COSMIC COSMIC |
1 | g.196995817T>A | CA344004888 | CFHR5 | c.453T>A (p.Asp151Glu) n.777T>A c.-24-297T>A (n.-24-297T>A) c.708T>A (p.Asp236Glu) c.717T>A (p.Asp239Glu) | |
1 | g.196995817T>C | CA422802745 | CFHR5 | c.453T>C (p.Asp151=) n.777T>C c.-24-297T>C (n.-24-297T>C) c.708T>C (p.Asp236=) c.717T>C (p.Asp239=) | |
1 | g.196995817T>G | CA344004889 | CFHR5 | c.453T>G (p.Asp151Glu) n.777T>G c.-24-297T>G (n.-24-297T>G) c.708T>G (p.Asp236Glu) c.717T>G (p.Asp239Glu) | |
1 | g.196995818T>A | CA344004892 | CFHR5 | c.454T>A (p.Cys152Ser) n.778T>A c.-24-296T>A (n.-24-296T>A) c.709T>A (p.Cys237Ser) c.718T>A (p.Cys240Ser) | |
1 | g.196995818T>C | CA344004894 | CFHR5 | c.454T>C (p.Cys152Arg) n.778T>C c.-24-296T>C (n.-24-296T>C) c.709T>C (p.Cys237Arg) c.718T>C (p.Cys240Arg) | |
1 | g.196995818T>G | CA344004896 | CFHR5 | c.454T>G (p.Cys152Gly) n.778T>G c.-24-296T>G (n.-24-296T>G) c.709T>G (p.Cys237Gly) c.718T>G (p.Cys240Gly) | |
1 | g.196995819G>A | CA344004901 | CFHR5 | c.455G>A (p.Cys152Tyr) n.779G>A c.-24-295G>A (n.-24-295G>A) c.710G>A (p.Cys237Tyr) c.719G>A (p.Cys240Tyr) | |
1 | g.196995819G>C | CA344004899 | CFHR5 | c.455G>C (p.Cys152Ser) n.779G>C c.-24-295G>C (n.-24-295G>C) c.710G>C (p.Cys237Ser) c.719G>C (p.Cys240Ser) | |
1 | g.196995819G>T | CA344004898 | CFHR5 | c.455G>T (p.Cys152Phe) n.779G>T c.-24-295G>T (n.-24-295G>T) c.710G>T (p.Cys237Phe) c.719G>T (p.Cys240Phe) | |
1 | g.196995820C>A | CA1307841 | CFHR5 | c.456C>A (p.Cys152Ter) n.780C>A c.-24-294C>A (n.-24-294C>A) c.711C>A (p.Cys237Ter) c.720C>A (p.Cys240Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995820C= | CA1143472234 | CFHR5 | c.456C= (p.Cys152=) n.780C= c.-24-294C= (n.-24-294C=) c.711C= (p.Cys237=) c.720C= (p.Cys240=) | |
1 | g.196995820C>G | CA344004903 | CFHR5 | c.456C>G (p.Cys152Trp) n.780C>G c.-24-294C>G (n.-24-294C>G) c.711C>G (p.Cys237Trp) c.720C>G (p.Cys240Trp) | |
1 | g.196995820C>T | CA422802750 | CFHR5 | c.456C>T (p.Cys152=) n.780C>T c.-24-294C>T (n.-24-294C>T) c.711C>T (p.Cys237=) c.720C>T (p.Cys240=) | gnomAD v4 |
1 | g.196995821A>C | CA344004905 | CFHR5 | c.457A>C (p.Asn153His) n.781A>C c.-24-293A>C (n.-24-293A>C) c.712A>C (p.Asn238His) c.721A>C (p.Asn241His) | |
1 | g.196995821A>G | CA344004907 | CFHR5 | c.457A>G (p.Asn153Asp) n.781A>G c.-24-293A>G (n.-24-293A>G) c.712A>G (p.Asn238Asp) c.721A>G (p.Asn241Asp) | |
1 | g.196995821A>T | CA344004909 | CFHR5 | c.457A>T (p.Asn153Tyr) n.781A>T c.-24-293A>T (n.-24-293A>T) c.712A>T (p.Asn238Tyr) c.721A>T (p.Asn241Tyr) | |
1 | g.196995822A>C | CA344004911 | CFHR5 | c.458A>C (p.Asn153Thr) n.782A>C c.-24-292A>C (n.-24-292A>C) c.713A>C (p.Asn238Thr) c.722A>C (p.Asn241Thr) | |
1 | g.196995822A>G | CA344004912 | CFHR5 | c.458A>G (p.Asn153Ser) n.782A>G c.-24-292A>G (n.-24-292A>G) c.713A>G (p.Asn238Ser) c.722A>G (p.Asn241Ser) | |
1 | g.196995822A>T | CA344004914 | CFHR5 | c.458A>T (p.Asn153Ile) n.782A>T c.-24-292A>T (n.-24-292A>T) c.713A>T (p.Asn238Ile) c.722A>T (p.Asn241Ile) | |
1 | g.196995823T>A | CA344004915 | CFHR5 | c.459T>A (p.Asn153Lys) n.783T>A c.-24-291T>A (n.-24-291T>A) c.714T>A (p.Asn238Lys) c.723T>A (p.Asn241Lys) | |
1 | g.196995823T>C | CA422802754 | CFHR5 | c.459T>C (p.Asn153=) n.783T>C c.-24-291T>C (n.-24-291T>C) c.714T>C (p.Asn238=) c.723T>C (p.Asn241=) | gnomAD v4 |
1 | g.196995823T>G | CA344004917 | CFHR5 | c.459T>G (p.Asn153Lys) n.783T>G c.-24-291T>G (n.-24-291T>G) c.714T>G (p.Asn238Lys) c.723T>G (p.Asn241Lys) | |
1 | g.196995824C>A | CA344004919 | CFHR5 | c.460C>A (p.Pro154Thr) n.784C>A c.-24-290C>A (n.-24-290C>A) c.715C>A (p.Pro239Thr) c.724C>A (p.Pro242Thr) | gnomAD v4 |
1 | g.196995824C>G | CA344004921 | CFHR5 | c.460C>G (p.Pro154Ala) n.784C>G c.-24-290C>G (n.-24-290C>G) c.715C>G (p.Pro239Ala) c.724C>G (p.Pro242Ala) | |
1 | g.196995824C>T | CA344004922 | CFHR5 | c.460C>T (p.Pro154Ser) n.784C>T c.-24-290C>T (n.-24-290C>T) c.715C>T (p.Pro239Ser) c.724C>T (p.Pro242Ser) | |
1 | g.196995825C>A | CA344004928 | CFHR5 | c.461C>A (p.Pro154His) n.785C>A c.-24-289C>A (n.-24-289C>A) c.716C>A (p.Pro239His) c.725C>A (p.Pro242His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995825C= | CA1217885060 | CFHR5 | c.461C= (p.Pro154=) n.785C= c.-24-289C= (n.-24-289C=) c.716C= (p.Pro239=) c.725C= (p.Pro242=) | |
1 | g.196995825C>G | CA344004925 | CFHR5 | c.461C>G (p.Pro154Arg) n.785C>G c.-24-289C>G (n.-24-289C>G) c.716C>G (p.Pro239Arg) c.725C>G (p.Pro242Arg) | |
1 | g.196995825C>T | CA1307842 | CFHR5 | c.461C>T (p.Pro154Leu) n.785C>T c.-24-289C>T (n.-24-289C>T) c.716C>T (p.Pro239Leu) c.725C>T (p.Pro242Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995826T>A | CA422802756 | CFHR5 | c.462T>A (p.Pro154=) n.786T>A c.-24-288T>A (n.-24-288T>A) c.717T>A (p.Pro239=) c.726T>A (p.Pro242=) | |
1 | g.196995826T>C | CA35878290 | CFHR5 | c.462T>C (p.Pro154=) n.786T>C c.-24-288T>C (n.-24-288T>C) c.717T>C (p.Pro239=) c.726T>C (p.Pro242=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995826T>G | CA422802755 | CFHR5 | c.462T>G (p.Pro154=) n.786T>G c.-24-288T>G (n.-24-288T>G) c.717T>G (p.Pro239=) c.726T>G (p.Pro242=) | dbSNP gnomAD v4 |
1 | g.196995826T= | CA1141199001 | CFHR5 | c.462T= (p.Pro154=) n.786T= c.-24-288T= (n.-24-288T=) c.717T= (p.Pro239=) c.726T= (p.Pro242=) | |
1 | g.196995827A= | CA1217885061 | CFHR5 | c.463A= (p.Asn155=) n.787A= c.-24-287A= (n.-24-287A=) c.718A= (p.Asn240=) c.727A= (p.Asn243=) | |
1 | g.196995827A>C | CA344004930 | CFHR5 | c.463A>C (p.Asn155His) n.787A>C c.-24-287A>C (n.-24-287A>C) c.718A>C (p.Asn240His) c.727A>C (p.Asn243His) | |
1 | g.196995827A>G | CA1307843 | CFHR5 | c.463A>G (p.Asn155Asp) n.787A>G c.-24-287A>G (n.-24-287A>G) c.718A>G (p.Asn240Asp) c.727A>G (p.Asn243Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995827A>T | CA344004933 | CFHR5 | c.463A>T (p.Asn155Tyr) n.787A>T c.-24-287A>T (n.-24-287A>T) c.718A>T (p.Asn240Tyr) c.727A>T (p.Asn243Tyr) | |
1 | g.196995828A>C | CA344004935 | CFHR5 | c.464A>C (p.Asn155Thr) n.788A>C c.-24-286A>C (n.-24-286A>C) c.719A>C (p.Asn240Thr) c.728A>C (p.Asn243Thr) | gnomAD v4 |
1 | g.196995828A>G | CA344004936 | CFHR5 | c.464A>G (p.Asn155Ser) n.788A>G c.-24-286A>G (n.-24-286A>G) c.719A>G (p.Asn240Ser) c.728A>G (p.Asn243Ser) | |
1 | g.196995828A>T | CA344004938 | CFHR5 | c.464A>T (p.Asn155Ile) n.788A>T c.-24-286A>T (n.-24-286A>T) c.719A>T (p.Asn240Ile) c.728A>T (p.Asn243Ile) | |
1 | g.196995829T>A | CA344004940 | CFHR5 | c.465T>A (p.Asn155Lys) n.789T>A c.-24-285T>A (n.-24-285T>A) c.720T>A (p.Asn240Lys) c.729T>A (p.Asn243Lys) | |
1 | g.196995829T>C | CA422802759 | CFHR5 | c.465T>C (p.Asn155=) n.789T>C c.-24-285T>C (n.-24-285T>C) c.720T>C (p.Asn240=) c.729T>C (p.Asn243=) | gnomAD v4 |
1 | g.196995829T>G | CA344004941 | CFHR5 | c.465T>G (p.Asn155Lys) n.789T>G c.-24-285T>G (n.-24-285T>G) c.720T>G (p.Asn240Lys) c.729T>G (p.Asn243Lys) | |
1 | g.196995830T>A | CA344004943 | CFHR5 | c.466T>A (p.Phe156Ile) n.790T>A c.-24-284T>A (n.-24-284T>A) c.721T>A (p.Phe241Ile) c.730T>A (p.Phe244Ile) | |
1 | g.196995830T>C | CA344004945 | CFHR5 | c.466T>C (p.Phe156Leu) n.790T>C c.-24-284T>C (n.-24-284T>C) c.721T>C (p.Phe241Leu) c.730T>C (p.Phe244Leu) | COSMIC |
1 | g.196995830T>G | CA344004946 | CFHR5 | c.466T>G (p.Phe156Val) n.790T>G c.-24-284T>G (n.-24-284T>G) c.721T>G (p.Phe241Val) c.730T>G (p.Phe244Val) | COSMIC COSMIC |
1 | g.196995831T>A | CA344004952 | CFHR5 | c.467T>A (p.Phe156Tyr) n.791T>A c.-24-283T>A (n.-24-283T>A) c.722T>A (p.Phe241Tyr) c.731T>A (p.Phe244Tyr) | |
1 | g.196995831T>C | CA344004950 | CFHR5 | c.467T>C (p.Phe156Ser) n.791T>C c.-24-283T>C (n.-24-283T>C) c.722T>C (p.Phe241Ser) c.731T>C (p.Phe244Ser) | |
1 | g.196995831T>G | CA344004949 | CFHR5 | c.467T>G (p.Phe156Cys) n.791T>G c.-24-283T>G (n.-24-283T>G) c.722T>G (p.Phe241Cys) c.731T>G (p.Phe244Cys) | |
1 | g.196995832T>A | CA344004955 | CFHR5 | c.468T>A (p.Phe156Leu) n.792T>A c.-24-282T>A (n.-24-282T>A) c.723T>A (p.Phe241Leu) c.732T>A (p.Phe244Leu) | |
1 | g.196995832T>C | CA35878305 | CFHR5 | c.468T>C (p.Phe156=) n.792T>C c.-24-282T>C (n.-24-282T>C) c.723T>C (p.Phe241=) c.732T>C (p.Phe244=) | dbSNP |
1 | g.196995832T>G | CA344004957 | CFHR5 | c.468T>G (p.Phe156Leu) n.792T>G c.-24-282T>G (n.-24-282T>G) c.723T>G (p.Phe241Leu) c.732T>G (p.Phe244Leu) | |
1 | g.196995832T= | CA1217885062 | CFHR5 | c.468T= (p.Phe156=) n.792T= c.-24-282T= (n.-24-282T=) c.723T= (p.Phe241=) c.732T= (p.Phe244=) | |
1 | g.196995833A>C | CA344004958 | CFHR5 | c.469A>C (p.Ile157Leu) n.793A>C c.-24-281A>C (n.-24-281A>C) c.724A>C (p.Ile242Leu) c.733A>C (p.Ile245Leu) | |
1 | g.196995833A>G | CA344004960 | CFHR5 | c.469A>G (p.Ile157Val) n.793A>G c.-24-281A>G (n.-24-281A>G) c.724A>G (p.Ile242Val) c.733A>G (p.Ile245Val) | |
1 | g.196995833A>T | CA344004961 | CFHR5 | c.469A>T (p.Ile157Leu) n.793A>T c.-24-281A>T (n.-24-281A>T) c.724A>T (p.Ile242Leu) c.733A>T (p.Ile245Leu) | |
1 | g.196995834T>A | CA344004962 | CFHR5 | c.470T>A (p.Ile157Lys) n.794T>A c.-24-280T>A (n.-24-280T>A) c.725T>A (p.Ile242Lys) c.734T>A (p.Ile245Lys) | |
1 | g.196995834T>C | CA344004963 | CFHR5 | c.470T>C (p.Ile157Thr) n.794T>C c.-24-280T>C (n.-24-280T>C) c.725T>C (p.Ile242Thr) c.734T>C (p.Ile245Thr) | |
1 | g.196995834T>G | CA344004964 | CFHR5 | c.470T>G (p.Ile157Arg) n.794T>G c.-24-280T>G (n.-24-280T>G) c.725T>G (p.Ile242Arg) c.734T>G (p.Ile245Arg) | |
1 | g.196995835A>C | CA422802770 | CFHR5 | c.471A>C (p.Ile157=) n.795A>C c.-24-279A>C (n.-24-279A>C) c.726A>C (p.Ile242=) c.735A>C (p.Ile245=) | |
1 | g.196995835A>G | CA344004965 | CFHR5 | c.471A>G (p.Ile157Met) n.795A>G c.-24-279A>G (n.-24-279A>G) c.726A>G (p.Ile242Met) c.735A>G (p.Ile245Met) | |
1 | g.196995835A>T | CA422802771 | CFHR5 | c.471A>T (p.Ile157=) n.795A>T c.-24-279A>T (n.-24-279A>T) c.726A>T (p.Ile242=) c.735A>T (p.Ile245=) | |
1 | g.196995836A>C | CA344004967 | CFHR5 | c.472A>C (p.Ile158Leu) n.796A>C c.-24-278A>C (n.-24-278A>C) c.727A>C (p.Ile243Leu) c.736A>C (p.Ile246Leu) | |
1 | g.196995836A>G | CA344004971 | CFHR5 | c.472A>G (p.Ile158Val) n.796A>G c.-24-278A>G (n.-24-278A>G) c.727A>G (p.Ile243Val) c.736A>G (p.Ile246Val) | gnomAD v4 |
1 | g.196995836A>T | CA344004972 | CFHR5 | c.472A>T (p.Ile158Leu) n.796A>T c.-24-278A>T (n.-24-278A>T) c.727A>T (p.Ile243Leu) c.736A>T (p.Ile246Leu) | |
1 | g.196995837T>A | CA344004973 | CFHR5 | c.473T>A (p.Ile158Lys) n.797T>A c.-24-277T>A (n.-24-277T>A) c.728T>A (p.Ile243Lys) c.737T>A (p.Ile246Lys) | |
1 | g.196995837T>C | CA1307844 | CFHR5 | c.473T>C (p.Ile158Thr) n.797T>C c.-24-277T>C (n.-24-277T>C) c.728T>C (p.Ile243Thr) c.737T>C (p.Ile246Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995837T>G | CA344004975 | CFHR5 | c.473T>G (p.Ile158Arg) n.797T>G c.-24-277T>G (n.-24-277T>G) c.728T>G (p.Ile243Arg) c.737T>G (p.Ile246Arg) | |
1 | g.196995837T= | CA1217885063 | CFHR5 | c.473T= (p.Ile158=) n.797T= c.-24-277T= (n.-24-277T=) c.728T= (p.Ile243=) c.737T= (p.Ile246=) | |
1 | g.196995838A>C | CA422802777 | CFHR5 | c.474A>C (p.Ile158=) n.798A>C c.-24-276A>C (n.-24-276A>C) c.729A>C (p.Ile243=) c.738A>C (p.Ile246=) | |
1 | g.196995838A>G | CA344004977 | CFHR5 | c.474A>G (p.Ile158Met) n.798A>G c.-24-276A>G (n.-24-276A>G) c.729A>G (p.Ile243Met) c.738A>G (p.Ile246Met) | |
1 | g.196995838A>T | CA422802778 | CFHR5 | c.474A>T (p.Ile158=) n.798A>T c.-24-276A>T (n.-24-276A>T) c.729A>T (p.Ile243=) c.738A>T (p.Ile246=) | gnomAD v4 COSMIC COSMIC |
1 | g.196995839A>C | CA344004979 | CFHR5 | c.475A>C (p.Asn159His) n.799A>C c.-24-275A>C (n.-24-275A>C) c.730A>C (p.Asn244His) c.739A>C (p.Asn247His) | |
1 | g.196995839A>G | CA344004981 | CFHR5 | c.475A>G (p.Asn159Asp) n.799A>G c.-24-275A>G (n.-24-275A>G) c.730A>G (p.Asn244Asp) c.739A>G (p.Asn247Asp) | |
1 | g.196995839A>T | CA344004983 | CFHR5 | c.475A>T (p.Asn159Tyr) n.799A>T c.-24-275A>T (n.-24-275A>T) c.730A>T (p.Asn244Tyr) c.739A>T (p.Asn247Tyr) | |
1 | g.196995840A>C | CA344004985 | CFHR5 | c.476A>C (p.Asn159Thr) n.800A>C c.-24-274A>C (n.-24-274A>C) c.731A>C (p.Asn244Thr) c.740A>C (p.Asn247Thr) | dbSNP |
1 | g.196995840A>G | CA344004987 | CFHR5 | c.476A>G (p.Asn159Ser) n.800A>G c.-24-274A>G (n.-24-274A>G) c.731A>G (p.Asn244Ser) c.740A>G (p.Asn247Ser) | |
1 | g.196995840A>T | CA344004988 | CFHR5 | c.476A>T (p.Asn159Ile) n.800A>T c.-24-274A>T (n.-24-274A>T) c.731A>T (p.Asn244Ile) c.740A>T (p.Asn247Ile) | |
1 | g.196995841C>A | CA344004991 | CFHR5 | c.477C>A (p.Asn159Lys) n.801C>A c.-24-273C>A (n.-24-273C>A) c.732C>A (p.Asn244Lys) c.741C>A (p.Asn247Lys) | gnomAD v4 |
1 | g.196995841C= | CA1140613711 | CFHR5 | c.477C= (p.Asn159=) n.801C= c.-24-273C= (n.-24-273C=) c.732C= (p.Asn244=) c.741C= (p.Asn247=) | |
1 | g.196995841C>G | CA344004992 | CFHR5 | c.477C>G (p.Asn159Lys) n.801C>G c.-24-273C>G (n.-24-273C>G) c.732C>G (p.Asn244Lys) c.741C>G (p.Asn247Lys) | gnomAD v4 |
1 | g.196995841C>T | CA1307845 | CFHR5 | c.477C>T (p.Asn159=) n.801C>T c.-24-273C>T (n.-24-273C>T) c.732C>T (p.Asn244=) c.741C>T (p.Asn247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995842G>A | CA1307847 | CFHR5 | c.478G>A (p.Gly160Arg) n.802G>A c.-24-272G>A (n.-24-272G>A) c.733G>A (p.Gly245Arg) c.742G>A (p.Gly248Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995842G>C | CA344004994 | CFHR5 | c.478G>C (p.Gly160Arg) n.802G>C c.-24-272G>C (n.-24-272G>C) c.733G>C (p.Gly245Arg) c.742G>C (p.Gly248Arg) | |
1 | g.196995842G= | CA1143507246 | CFHR5 | c.478G= (p.Gly160=) n.802G= c.-24-272G= (n.-24-272G=) c.733G= (p.Gly245=) c.742G= (p.Gly248=) | |
1 | g.196995842G>T | CA1307846 | CFHR5 | c.478G>T (p.Gly160Trp) n.802G>T c.-24-272G>T (n.-24-272G>T) c.733G>T (p.Gly245Trp) c.742G>T (p.Gly248Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995844del | CA2649656619 | CFHR5 | c.480del (p.Pro161LeufsTer21) n.804del c.-24-270del (n.-24-270del) c.735del (p.Pro246LeufsTer21) c.744del (p.Pro249LeufsTer21) | gnomAD v4 |
1 | g.196995843G>A | CA344005004 | CFHR5 | c.479G>A (p.Gly160Glu) n.803G>A c.-24-271G>A (n.-24-271G>A) c.734G>A (p.Gly245Glu) c.743G>A (p.Gly248Glu) | |
1 | g.196995843G>C | CA344005006 | CFHR5 | c.479G>C (p.Gly160Ala) n.803G>C c.-24-271G>C (n.-24-271G>C) c.734G>C (p.Gly245Ala) c.743G>C (p.Gly248Ala) | |
1 | g.196995843G= | CA1217885064 | CFHR5 | c.479G= (p.Gly160=) n.803G= c.-24-271G= (n.-24-271G=) c.734G= (p.Gly245=) c.743G= (p.Gly248=) | |
1 | g.196995843G>T | CA35878317 | CFHR5 | c.479G>T (p.Gly160Val) n.803G>T c.-24-271G>T (n.-24-271G>T) c.734G>T (p.Gly245Val) c.743G>T (p.Gly248Val) | dbSNP |
1 | g.196995844G>A | CA422802702 | CFHR5 | c.480G>A (p.Gly160=) n.804G>A c.-24-270G>A (n.-24-270G>A) c.735G>A (p.Gly245=) c.744G>A (p.Gly248=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.196995844G>C | CA422802704 | CFHR5 | c.480G>C (p.Gly160=) n.804G>C c.-24-270G>C (n.-24-270G>C) c.735G>C (p.Gly245=) c.744G>C (p.Gly248=) | |
1 | g.196995844G= | CA1217885065 | CFHR5 | c.480G= (p.Gly160=) n.804G= c.-24-270G= (n.-24-270G=) c.735G= (p.Gly245=) c.744G= (p.Gly248=) | |
1 | g.196995844G>T | CA422802705 | CFHR5 | c.480G>T (p.Gly160=) n.804G>T c.-24-270G>T (n.-24-270G>T) c.735G>T (p.Gly245=) c.744G>T (p.Gly248=) | |
1 | g.196995845C>A | CA344005009 | CFHR5 | c.481C>A (p.Pro161Thr) n.805C>A c.-24-269C>A (n.-24-269C>A) c.736C>A (p.Pro246Thr) c.745C>A (p.Pro249Thr) | |
1 | g.196995845C>G | CA344005011 | CFHR5 | c.481C>G (p.Pro161Ala) n.805C>G c.-24-269C>G (n.-24-269C>G) c.736C>G (p.Pro246Ala) c.745C>G (p.Pro249Ala) | |
1 | g.196995845C>T | CA344005012 | CFHR5 | c.481C>T (p.Pro161Ser) n.805C>T c.-24-269C>T (n.-24-269C>T) c.736C>T (p.Pro246Ser) c.745C>T (p.Pro249Ser) | |
1 | g.196995846C>A | CA344005015 | CFHR5 | c.482C>A (p.Pro161His) n.806C>A c.-24-268C>A (n.-24-268C>A) c.737C>A (p.Pro246His) c.746C>A (p.Pro249His) | gnomAD v4 |
1 | g.196995846C= | CA1217885066 | CFHR5 | c.482C= (p.Pro161=) n.806C= c.-24-268C= (n.-24-268C=) c.737C= (p.Pro246=) c.746C= (p.Pro249=) | |
1 | g.196995846C>G | CA344005016 | CFHR5 | c.482C>G (p.Pro161Arg) n.806C>G c.-24-268C>G (n.-24-268C>G) c.737C>G (p.Pro246Arg) c.746C>G (p.Pro249Arg) | COSMIC COSMIC |
1 | g.196995846C>T | CA344005018 | CFHR5 | c.482C>T (p.Pro161Leu) n.806C>T c.-24-268C>T (n.-24-268C>T) c.737C>T (p.Pro246Leu) c.746C>T (p.Pro249Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995847T>A | CA422802709 | CFHR5 | c.483T>A (p.Pro161=) n.807T>A c.-24-267T>A (n.-24-267T>A) c.738T>A (p.Pro246=) c.747T>A (p.Pro249=) | |
1 | g.196995847T>C | CA422802711 | CFHR5 | c.483T>C (p.Pro161=) n.807T>C c.-24-267T>C (n.-24-267T>C) c.738T>C (p.Pro246=) c.747T>C (p.Pro249=) | |
1 | g.196995847T>G | CA422802710 | CFHR5 | c.483T>G (p.Pro161=) n.807T>G c.-24-267T>G (n.-24-267T>G) c.738T>G (p.Pro246=) c.747T>G (p.Pro249=) | |
1 | g.196995848A= | CA1217885067 | CFHR5 | c.484A= (p.Lys162=) n.808A= c.-24-266A= (n.-24-266A=) c.739A= (p.Lys247=) c.748A= (p.Lys250=) | |
1 | g.196995848A>C | CA344005026 | CFHR5 | c.484A>C (p.Lys162Gln) n.808A>C c.-24-266A>C (n.-24-266A>C) c.739A>C (p.Lys247Gln) c.748A>C (p.Lys250Gln) | |
1 | g.196995848A>G | CA1307848 | CFHR5 | c.484A>G (p.Lys162Glu) n.808A>G c.-24-266A>G (n.-24-266A>G) c.739A>G (p.Lys247Glu) c.748A>G (p.Lys250Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995848A>T | CA344005022 | CFHR5 | c.484A>T (p.Lys162Ter) n.808A>T c.-24-266A>T (n.-24-266A>T) c.739A>T (p.Lys247Ter) c.748A>T (p.Lys250Ter) | |
1 | g.196995849A= | CA1217885068 | CFHR5 | c.485A= (p.Lys162=) n.809A= c.-24-265A= (n.-24-265A=) c.740A= (p.Lys247=) c.749A= (p.Lys250=) | |
1 | g.196995849A>C | CA1307849 | CFHR5 | c.485A>C (p.Lys162Thr) n.809A>C c.-24-265A>C (n.-24-265A>C) c.740A>C (p.Lys247Thr) c.749A>C (p.Lys250Thr) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
1 | g.196995849A>G | CA344005031 | CFHR5 | c.485A>G (p.Lys162Arg) n.809A>G c.-24-265A>G (n.-24-265A>G) c.740A>G (p.Lys247Arg) c.749A>G (p.Lys250Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995849A>T | CA344005036 | CFHR5 | c.485A>T (p.Lys162Met) n.809A>T c.-24-265A>T (n.-24-265A>T) c.740A>T (p.Lys247Met) c.749A>T (p.Lys250Met) | |
1 | g.196995850G>A | CA422802713 | CFHR5 | c.486G>A (p.Lys162=) n.810G>A c.-24-264G>A (n.-24-264G>A) c.741G>A (p.Lys247=) c.750G>A (p.Lys250=) | dbSNP gnomAD v4 |
1 | g.196995850G>C | CA344005037 | CFHR5 | c.486G>C (p.Lys162Asn) n.810G>C c.-24-264G>C (n.-24-264G>C) c.741G>C (p.Lys247Asn) c.750G>C (p.Lys250Asn) | |
1 | g.196995850G= | CA1217885069 | CFHR5 | c.486G= (p.Lys162=) n.810G= c.-24-264G= (n.-24-264G=) c.741G= (p.Lys247=) c.750G= (p.Lys250=) | |
1 | g.196995850G>T | CA10609192 | CFHR5 | c.486G>T (p.Lys162Asn) n.810G>T c.-24-264G>T (n.-24-264G>T) c.741G>T (p.Lys247Asn) c.750G>T (p.Lys250Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.196995851A= | CA1217885070 | CFHR5 | c.487A= (p.Lys163=) n.811A= c.-24-263A= (n.-24-263A=) c.742A= (p.Lys248=) c.751A= (p.Lys251=) | |
1 | g.196995851A>C | CA344005040 | CFHR5 | c.487A>C (p.Lys163Gln) n.811A>C c.-24-263A>C (n.-24-263A>C) c.742A>C (p.Lys248Gln) c.751A>C (p.Lys251Gln) | |
1 | g.196995851A>G | CA344005044 | CFHR5 | c.487A>G (p.Lys163Glu) n.811A>G c.-24-263A>G (n.-24-263A>G) c.742A>G (p.Lys248Glu) c.751A>G (p.Lys251Glu) | |
1 | g.196995851A>T | CA1307850 | CFHR5 | c.487A>T (p.Lys163Ter) n.811A>T c.-24-263A>T (n.-24-263A>T) c.742A>T (p.Lys248Ter) c.751A>T (p.Lys251Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995852A>C | CA344005045 | CFHR5 | c.488A>C (p.Lys163Thr) n.812A>C c.-24-262A>C (n.-24-262A>C) c.743A>C (p.Lys248Thr) c.752A>C (p.Lys251Thr) | |
1 | g.196995852A>G | CA344005046 | CFHR5 | c.488A>G (p.Lys163Arg) n.812A>G c.-24-262A>G (n.-24-262A>G) c.743A>G (p.Lys248Arg) c.752A>G (p.Lys251Arg) | |
1 | g.196995852A>T | CA344005047 | CFHR5 | c.488A>T (p.Lys163Ile) n.812A>T c.-24-262A>T (n.-24-262A>T) c.743A>T (p.Lys248Ile) c.752A>T (p.Lys251Ile) | |
1 | g.196995853A>C | CA344005048 | CFHR5 | c.489A>C (p.Lys163Asn) n.813A>C c.-24-261A>C (n.-24-261A>C) c.744A>C (p.Lys248Asn) c.753A>C (p.Lys251Asn) | |
1 | g.196995853A>G | CA422802715 | CFHR5 | c.489A>G (p.Lys163=) n.813A>G c.-24-261A>G (n.-24-261A>G) c.744A>G (p.Lys248=) c.753A>G (p.Lys251=) | |
1 | g.196995853A>T | CA344005049 | CFHR5 | c.489A>T (p.Lys163Asn) n.813A>T c.-24-261A>T (n.-24-261A>T) c.744A>T (p.Lys248Asn) c.753A>T (p.Lys251Asn) | |
1 | g.196995854A>C | CA344005051 | CFHR5 | c.490A>C (p.Ile164Leu) n.814A>C c.-24-260A>C (n.-24-260A>C) c.745A>C (p.Ile249Leu) c.754A>C (p.Ile252Leu) | |
1 | g.196995854A>G | CA344005054 | CFHR5 | c.490A>G (p.Ile164Val) n.814A>G c.-24-260A>G (n.-24-260A>G) c.745A>G (p.Ile249Val) c.754A>G (p.Ile252Val) | |
1 | g.196995854A>T | CA344005055 | CFHR5 | c.490A>T (p.Ile164Leu) n.814A>T c.-24-260A>T (n.-24-260A>T) c.745A>T (p.Ile249Leu) c.754A>T (p.Ile252Leu) | |
1 | g.196995855T>A | CA344005058 | CFHR5 | c.491T>A (p.Ile164Lys) n.815T>A c.-24-259T>A (n.-24-259T>A) c.746T>A (p.Ile249Lys) c.755T>A (p.Ile252Lys) | |
1 | g.196995855T>C | CA35878342 | CFHR5 | c.491T>C (p.Ile164Thr) n.815T>C c.-24-259T>C (n.-24-259T>C) c.746T>C (p.Ile249Thr) c.755T>C (p.Ile252Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995855T>G | CA344005060 | CFHR5 | c.491T>G (p.Ile164Arg) n.815T>G c.-24-259T>G (n.-24-259T>G) c.746T>G (p.Ile249Arg) c.755T>G (p.Ile252Arg) | |
1 | g.196995855T= | CA1217885071 | CFHR5 | c.491T= (p.Ile164=) n.815T= c.-24-259T= (n.-24-259T=) c.746T= (p.Ile249=) c.755T= (p.Ile252=) | |
1 | g.196995856A= | CA1217885072 | CFHR5 | c.492A= (p.Ile164=) n.816A= c.-24-258A= (n.-24-258A=) c.747A= (p.Ile249=) c.756A= (p.Ile252=) | |
1 | g.196995856A>C | CA422802718 | CFHR5 | c.492A>C (p.Ile164=) n.816A>C c.-24-258A>C (n.-24-258A>C) c.747A>C (p.Ile249=) c.756A>C (p.Ile252=) | |
1 | g.196995856A>G | CA344005063 | CFHR5 | c.492A>G (p.Ile164Met) n.816A>G c.-24-258A>G (n.-24-258A>G) c.747A>G (p.Ile249Met) c.756A>G (p.Ile252Met) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.196995856A>T | CA422802719 | CFHR5 | c.492A>T (p.Ile164=) n.816A>T c.-24-258A>T (n.-24-258A>T) c.747A>T (p.Ile249=) c.756A>T (p.Ile252=) | |
1 | g.196995857C>A | CA344005071 | CFHR5 | c.493C>A (p.Gln165Lys) n.817C>A c.-24-257C>A (n.-24-257C>A) c.748C>A (p.Gln250Lys) c.757C>A (p.Gln253Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196995857C= | CA1217885074 | CFHR5 | c.493C= (p.Gln165=) n.817C= c.-24-257C= (n.-24-257C=) c.748C= (p.Gln250=) c.757C= (p.Gln253=) | |
1 | g.196995857C>G | CA344005068 | CFHR5 | c.493C>G (p.Gln165Glu) n.817C>G c.-24-257C>G (n.-24-257C>G) c.748C>G (p.Gln250Glu) c.757C>G (p.Gln253Glu) | gnomAD v4 |
1 | g.196995857C>T | CA344005066 | CFHR5 | c.493C>T (p.Gln165Ter) n.817C>T c.-24-257C>T (n.-24-257C>T) c.748C>T (p.Gln250Ter) c.757C>T (p.Gln253Ter) | gnomAD v4 |
1 | g.196995857_196995860delinsCAAT | CA1217885073 | CFHR5 | c.493_496delinsCAAT (p.Gln165=) n.817_820delinsCAAT c.-24-257_-24-254delinsCAAT (n.-24-257_-24-254delinsCAAT) c.748_751delinsCAAT (p.Gln250=) c.757_760delinsCAAT (p.Gln253=) | |
1 | g.196995858A>C | CA344005073 | CFHR5 | c.494A>C (p.Gln165Pro) n.818A>C c.-24-256A>C (n.-24-256A>C) c.749A>C (p.Gln250Pro) c.758A>C (p.Gln253Pro) | |
1 | g.196995858A>G | CA344005077 | CFHR5 | c.494A>G (p.Gln165Arg) n.818A>G c.-24-256A>G (n.-24-256A>G) c.749A>G (p.Gln250Arg) c.758A>G (p.Gln253Arg) | gnomAD v4 |
1 | g.196995858A>T | CA344005075 | CFHR5 | c.494A>T (p.Gln165Leu) n.818A>T c.-24-256A>T (n.-24-256A>T) c.749A>T (p.Gln250Leu) c.758A>T (p.Gln253Leu) | |
1 | g.196995858_196995860del | CA528534568 | CFHR5 | c.494_496del (p.Gln165_Cys166delinsArg) n.818_820del c.-24-256_-24-254del (n.-24-256_-24-254del) c.749_751del (p.Gln250_Cys251delinsArg) c.758_760del (p.Gln253_Cys254delinsArg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995859A= | CA1144193392 | CFHR5 | c.495A= (p.Gln165=) n.819A= c.-24-255A= (n.-24-255A=) c.750A= (p.Gln250=) c.759A= (p.Gln253=) | |
1 | g.196995859A>C | CA344005080 | CFHR5 | c.495A>C (p.Gln165His) n.819A>C c.-24-255A>C (n.-24-255A>C) c.750A>C (p.Gln250His) c.759A>C (p.Gln253His) | |
1 | g.196995859A>G | CA35878345 | CFHR5 | c.495A>G (p.Gln165=) n.819A>G c.-24-255A>G (n.-24-255A>G) c.750A>G (p.Gln250=) c.759A>G (p.Gln253=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196995859A>T | CA344005082 | CFHR5 | c.495A>T (p.Gln165His) n.819A>T c.-24-255A>T (n.-24-255A>T) c.750A>T (p.Gln250His) c.759A>T (p.Gln253His) | |
1 | g.196995860T>A | CA344005086 | CFHR5 | c.496T>A (p.Cys166Ser) n.820T>A c.-24-254T>A (n.-24-254T>A) c.751T>A (p.Cys251Ser) c.760T>A (p.Cys254Ser) | |
1 | g.196995860T>C | CA1307851 | CFHR5 | c.496T>C (p.Cys166Arg) n.820T>C c.-24-254T>C (n.-24-254T>C) c.751T>C (p.Cys251Arg) c.760T>C (p.Cys254Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995860T>G | CA344005088 | CFHR5 | c.496T>G (p.Cys166Gly) n.820T>G c.-24-254T>G (n.-24-254T>G) c.751T>G (p.Cys251Gly) c.760T>G (p.Cys254Gly) | |
1 | g.196995860T= | CA1217885075 | CFHR5 | c.496T= (p.Cys166=) n.820T= c.-24-254T= (n.-24-254T=) c.751T= (p.Cys251=) c.760T= (p.Cys254=) | |
1 | g.196995861G>A | CA344005091 | CFHR5 | c.497G>A (p.Cys166Tyr) n.821G>A c.-24-253G>A (n.-24-253G>A) c.752G>A (p.Cys251Tyr) c.761G>A (p.Cys254Tyr) | |
1 | g.196995861G>C | CA344005095 | CFHR5 | c.497G>C (p.Cys166Ser) n.821G>C c.-24-253G>C (n.-24-253G>C) c.752G>C (p.Cys251Ser) c.761G>C (p.Cys254Ser) | gnomAD v4 |
1 | g.196995861G>T | CA344005093 | CFHR5 | c.497G>T (p.Cys166Phe) n.821G>T c.-24-253G>T (n.-24-253G>T) c.752G>T (p.Cys251Phe) c.761G>T (p.Cys254Phe) | |
1 | g.196995862T>A | CA344005097 | CFHR5 | c.498T>A (p.Cys166Ter) n.822T>A c.-24-252T>A (n.-24-252T>A) c.753T>A (p.Cys251Ter) c.762T>A (p.Cys254Ter) | COSMIC COSMIC |
1 | g.196995862T>C | CA422802726 | CFHR5 | c.498T>C (p.Cys166=) n.822T>C c.-24-252T>C (n.-24-252T>C) c.753T>C (p.Cys251=) c.762T>C (p.Cys254=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995862T>G | CA344005099 | CFHR5 | c.498T>G (p.Cys166Trp) n.822T>G c.-24-252T>G (n.-24-252T>G) c.753T>G (p.Cys251Trp) c.762T>G (p.Cys254Trp) | |
1 | g.196995862T= | CA1217885076 | CFHR5 | c.498T= (p.Cys166=) n.822T= c.-24-252T= (n.-24-252T=) c.753T= (p.Cys251=) c.762T= (p.Cys254=) | |
1 | g.196995863G>A | CA344005101 | CFHR5 | c.499G>A (p.Val167Met) n.823G>A c.-24-251G>A (n.-24-251G>A) c.754G>A (p.Val252Met) c.763G>A (p.Val255Met) | gnomAD v4 |
1 | g.196995863G>C | CA344005104 | CFHR5 | c.499G>C (p.Val167Leu) n.823G>C c.-24-251G>C (n.-24-251G>C) c.754G>C (p.Val252Leu) c.763G>C (p.Val255Leu) | gnomAD v4 |
1 | g.196995863G>T | CA344005109 | CFHR5 | c.499G>T (p.Val167Leu) n.823G>T c.-24-251G>T (n.-24-251G>T) c.754G>T (p.Val252Leu) c.763G>T (p.Val255Leu) | |
1 | g.196995864T>A | CA344005112 | CFHR5 | c.500T>A (p.Val167Glu) n.824T>A c.-24-250T>A (n.-24-250T>A) c.755T>A (p.Val252Glu) c.764T>A (p.Val255Glu) | |
1 | g.196995864T>C | CA344005114 | CFHR5 | c.500T>C (p.Val167Ala) n.824T>C c.-24-250T>C (n.-24-250T>C) c.755T>C (p.Val252Ala) c.764T>C (p.Val255Ala) | |
1 | g.196995864T>G | CA344005116 | CFHR5 | c.500T>G (p.Val167Gly) n.824T>G c.-24-250T>G (n.-24-250T>G) c.755T>G (p.Val252Gly) c.764T>G (p.Val255Gly) | |
1 | g.196995865G>A | CA1307852 | CFHR5 | c.501G>A (p.Val167=) n.825G>A c.-24-249G>A (n.-24-249G>A) c.756G>A (p.Val252=) c.765G>A (p.Val255=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995865G>C | CA422802731 | CFHR5 | c.501G>C (p.Val167=) n.825G>C c.-24-249G>C (n.-24-249G>C) c.756G>C (p.Val252=) c.765G>C (p.Val255=) | gnomAD v4 |
1 | g.196995865G= | CA1217885077 | CFHR5 | c.501G= (p.Val167=) n.825G= c.-24-249G= (n.-24-249G=) c.756G= (p.Val252=) c.765G= (p.Val255=) | |
1 | g.196995865G>T | CA422802732 | CFHR5 | c.501G>T (p.Val167=) n.825G>T c.-24-249G>T (n.-24-249G>T) c.756G>T (p.Val252=) c.765G>T (p.Val255=) | |
1 | g.196995866G>A | CA344005122 | CFHR5 | c.502G>A (p.Asp168Asn) n.826G>A c.-24-248G>A (n.-24-248G>A) c.757G>A (p.Asp253Asn) c.766G>A (p.Asp256Asn) | |
1 | g.196995866G>C | CA344005120 | CFHR5 | c.502G>C (p.Asp168His) n.826G>C c.-24-248G>C (n.-24-248G>C) c.757G>C (p.Asp253His) c.766G>C (p.Asp256His) | |
1 | g.196995866G>T | CA344005119 | CFHR5 | c.502G>T (p.Asp168Tyr) n.826G>T c.-24-248G>T (n.-24-248G>T) c.757G>T (p.Asp253Tyr) c.766G>T (p.Asp256Tyr) | |
1 | g.196995867A= | CA1217885078 | CFHR5 | c.503A= (p.Asp168=) n.827A= c.-24-247A= (n.-24-247A=) c.758A= (p.Asp253=) c.767A= (p.Asp256=) | |
1 | g.196995867A>C | CA344005125 | CFHR5 | c.503A>C (p.Asp168Ala) n.827A>C c.-24-247A>C (n.-24-247A>C) c.758A>C (p.Asp253Ala) c.767A>C (p.Asp256Ala) | |
1 | g.196995867A>G | CA344005130 | CFHR5 | c.503A>G (p.Asp168Gly) n.827A>G c.-24-247A>G (n.-24-247A>G) c.758A>G (p.Asp253Gly) c.767A>G (p.Asp256Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995867A>T | CA344005131 | CFHR5 | c.503A>T (p.Asp168Val) n.827A>T c.-24-247A>T (n.-24-247A>T) c.758A>T (p.Asp253Val) c.767A>T (p.Asp256Val) | |
1 | g.196995868T>A | CA344005133 | CFHR5 | c.504T>A (p.Asp168Glu) n.828T>A c.-24-246T>A (n.-24-246T>A) c.759T>A (p.Asp253Glu) c.768T>A (p.Asp256Glu) | |
1 | g.196995868T>C | CA422802740 | CFHR5 | c.504T>C (p.Asp168=) n.828T>C c.-24-246T>C (n.-24-246T>C) c.759T>C (p.Asp253=) c.768T>C (p.Asp256=) | gnomAD v4 |
1 | g.196995868T>G | CA1307853 | CFHR5 | c.504T>G (p.Asp168Glu) n.828T>G c.-24-246T>G (n.-24-246T>G) c.759T>G (p.Asp253Glu) c.768T>G (p.Asp256Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995868T= | CA1141718287 | CFHR5 | c.504T= (p.Asp168=) n.828T= c.-24-246T= (n.-24-246T=) c.759T= (p.Asp253=) c.768T= (p.Asp256=) | |
1 | g.196995869G>A | CA1307854 | CFHR5 | c.505G>A (p.Gly169Arg) n.829G>A c.-24-245G>A (n.-24-245G>A) c.760G>A (p.Gly254Arg) c.769G>A (p.Gly257Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995869G>C | CA344005138 | CFHR5 | c.505G>C (p.Gly169Arg) n.829G>C c.-24-245G>C (n.-24-245G>C) c.760G>C (p.Gly254Arg) c.769G>C (p.Gly257Arg) | |
1 | g.196995869G= | CA1143485248 | CFHR5 | c.505G= (p.Gly169=) n.829G= c.-24-245G= (n.-24-245G=) c.760G= (p.Gly254=) c.769G= (p.Gly257=) | |
1 | g.196995869G>T | CA344005140 | CFHR5 | c.505G>T (p.Gly169Ter) n.829G>T c.-24-245G>T (n.-24-245G>T) c.760G>T (p.Gly254Ter) c.769G>T (p.Gly257Ter) | COSMIC COSMIC |
1 | g.196995870G>A | CA344005141 | CFHR5 | c.506G>A (p.Gly169Glu) n.830G>A c.-24-244G>A (n.-24-244G>A) c.761G>A (p.Gly254Glu) c.770G>A (p.Gly257Glu) | gnomAD v4 |
1 | g.196995870G>C | CA344005142 | CFHR5 | c.506G>C (p.Gly169Ala) n.830G>C c.-24-244G>C (n.-24-244G>C) c.761G>C (p.Gly254Ala) c.770G>C (p.Gly257Ala) | |
1 | g.196995870G>T | CA344005144 | CFHR5 | c.506G>T (p.Gly169Val) n.830G>T c.-24-244G>T (n.-24-244G>T) c.761G>T (p.Gly254Val) c.770G>T (p.Gly257Val) | |
1 | g.196995870_196995871delinsGA | CA1217885079 | CFHR5 | c.506_507delinsGA (p.Gly169=) n.830_831delinsGA c.-24-244_-24-243delinsGA (n.-24-244_-24-243delinsGA) c.761_762delinsGA (p.Gly254=) c.770_771delinsGA (p.Gly257=) | |
1 | g.196995871del | CA528534569 | CFHR5 | c.507del (p.Glu170AsnfsTer12) n.831del c.-24-243del (n.-24-243del) c.762del (p.Glu255AsnfsTer12) c.771del (p.Glu258AsnfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196995871A>C | CA422802742 | CFHR5 | c.507A>C (p.Gly169=) n.831A>C c.-24-243A>C (n.-24-243A>C) c.762A>C (p.Gly254=) c.771A>C (p.Gly257=) | |
1 | g.196995871A>G | CA422802743 | CFHR5 | c.507A>G (p.Gly169=) n.831A>G c.-24-243A>G (n.-24-243A>G) c.762A>G (p.Gly254=) c.771A>G (p.Gly257=) | |
1 | g.196995871A>T | CA422802744 | CFHR5 | c.507A>T (p.Gly169=) n.831A>T c.-24-243A>T (n.-24-243A>T) c.762A>T (p.Gly254=) c.771A>T (p.Gly257=) | |
1 | g.196995872G>A | CA344005150 | CFHR5 | c.508G>A (p.Glu170Lys) n.832G>A c.-24-242G>A (n.-24-242G>A) c.763G>A (p.Glu255Lys) c.772G>A (p.Glu258Lys) | COSMIC COSMIC |
1 | g.196995872G>C | CA344005152 | CFHR5 | c.508G>C (p.Glu170Gln) n.832G>C c.-24-242G>C (n.-24-242G>C) c.763G>C (p.Glu255Gln) c.772G>C (p.Glu258Gln) | |
1 | g.196995872G>T | CA344005148 | CFHR5 | c.508G>T (p.Glu170Ter) n.832G>T c.-24-242G>T (n.-24-242G>T) c.763G>T (p.Glu255Ter) c.772G>T (p.Glu258Ter) | |
1 | g.196995873A>C | CA344005155 | CFHR5 | c.509A>C (p.Glu170Ala) n.833A>C c.-24-241A>C (n.-24-241A>C) c.764A>C (p.Glu255Ala) c.773A>C (p.Glu258Ala) | |
1 | g.196995873A>G | CA344005158 | CFHR5 | c.509A>G (p.Glu170Gly) n.833A>G c.-24-241A>G (n.-24-241A>G) c.764A>G (p.Glu255Gly) c.773A>G (p.Glu258Gly) | |
1 | g.196995873A>T | CA344005160 | CFHR5 | c.509A>T (p.Glu170Val) n.833A>T c.-24-241A>T (n.-24-241A>T) c.764A>T (p.Glu255Val) c.773A>T (p.Glu258Val) | |
1 | g.196995874A= | CA1217885080 | CFHR5 | c.510A= (p.Glu170=) n.834A= c.-24-240A= (n.-24-240A=) c.765A= (p.Glu255=) c.774A= (p.Glu258=) | |
1 | g.196995874A>C | CA344005161 | CFHR5 | c.510A>C (p.Glu170Asp) n.834A>C c.-24-240A>C (n.-24-240A>C) c.765A>C (p.Glu255Asp) c.774A>C (p.Glu258Asp) | |
1 | g.196995874A>G | CA422802747 | CFHR5 | c.510A>G (p.Glu170=) n.834A>G c.-24-240A>G (n.-24-240A>G) c.765A>G (p.Glu255=) c.774A>G (p.Glu258=) | dbSNP |
1 | g.196995874A>T | CA344005163 | CFHR5 | c.510A>T (p.Glu170Asp) n.834A>T c.-24-240A>T (n.-24-240A>T) c.765A>T (p.Glu255Asp) c.774A>T (p.Glu258Asp) | |
1 | g.196995875T>A | CA344005170 | CFHR5 | c.511T>A (p.Trp171Arg) n.835T>A c.-24-239T>A (n.-24-239T>A) c.766T>A (p.Trp256Arg) c.775T>A (p.Trp259Arg) | |
1 | g.196995875T>C | CA344005171 | CFHR5 | c.511T>C (p.Trp171Arg) n.835T>C c.-24-239T>C (n.-24-239T>C) c.766T>C (p.Trp256Arg) c.775T>C (p.Trp259Arg) | |
1 | g.196995875T>G | CA344005173 | CFHR5 | c.511T>G (p.Trp171Gly) n.835T>G c.-24-239T>G (n.-24-239T>G) c.766T>G (p.Trp256Gly) c.775T>G (p.Trp259Gly) | gnomAD v4 |
1 | g.196995876G>A | CA35878379 | CFHR5 | c.512G>A (p.Trp171Ter) n.836G>A c.-24-238G>A (n.-24-238G>A) c.767G>A (p.Trp256Ter) c.776G>A (p.Trp259Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995876G>C | CA344005176 | CFHR5 | c.512G>C (p.Trp171Ser) n.836G>C c.-24-238G>C (n.-24-238G>C) c.767G>C (p.Trp256Ser) c.776G>C (p.Trp259Ser) | |
1 | g.196995876G= | CA1144012646 | CFHR5 | c.512G= (p.Trp171=) n.836G= c.-24-238G= (n.-24-238G=) c.767G= (p.Trp256=) c.776G= (p.Trp259=) | |
1 | g.196995876G>T | CA344005178 | CFHR5 | c.512G>T (p.Trp171Leu) n.836G>T c.-24-238G>T (n.-24-238G>T) c.767G>T (p.Trp256Leu) c.776G>T (p.Trp259Leu) | gnomAD v4 |
1 | g.196995877G>A | CA344005185 | CFHR5 | c.513G>A (p.Trp171Ter) n.837G>A c.-24-237G>A (n.-24-237G>A) c.768G>A (p.Trp256Ter) c.777G>A (p.Trp259Ter) | |
1 | g.196995877G>C | CA344005183 | CFHR5 | c.513G>C (p.Trp171Cys) n.837G>C c.-24-237G>C (n.-24-237G>C) c.768G>C (p.Trp256Cys) c.777G>C (p.Trp259Cys) | |
1 | g.196995877G= | CA1143447541 | CFHR5 | c.513G= (p.Trp171=) n.837G= c.-24-237G= (n.-24-237G=) c.768G= (p.Trp256=) c.777G= (p.Trp259=) | |
1 | g.196995877G>T | CA35878389 | CFHR5 | c.513G>T (p.Trp171Cys) n.837G>T c.-24-237G>T (n.-24-237G>T) c.768G>T (p.Trp256Cys) c.777G>T (p.Trp259Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196995877_196995880delinsGACA | CA1217885081 | CFHR5 | c.513_516delinsGACA (p.Trp171=) n.837_840delinsGACA c.-24-237_-24-234delinsGACA (n.-24-237_-24-234delinsGACA) c.768_771delinsGACA (p.Trp256=) c.777_780delinsGACA (p.Trp259=) | |
1 | g.196995878A= | CA1217885082 | CFHR5 | c.514A= (p.Thr172=) n.838A= c.-24-236A= (n.-24-236A=) c.769A= (p.Thr257=) c.778A= (p.Thr260=) | |
1 | g.196995878A>C | CA344005187 | CFHR5 | c.514A>C (p.Thr172Pro) n.838A>C c.-24-236A>C (n.-24-236A>C) c.769A>C (p.Thr257Pro) c.778A>C (p.Thr260Pro) | |
1 | g.196995878A>G | CA1307855 | CFHR5 | c.514A>G (p.Thr172Ala) n.838A>G c.-24-236A>G (n.-24-236A>G) c.769A>G (p.Thr257Ala) c.778A>G (p.Thr260Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995878A>T | CA344005190 | CFHR5 | c.514A>T (p.Thr172Ser) n.838A>T c.-24-236A>T (n.-24-236A>T) c.769A>T (p.Thr257Ser) c.778A>T (p.Thr260Ser) | |
1 | g.196995880_196995882del | CA422802757 | CFHR5 | c.516_518del (p.Thr173del) n.840_842del c.-24-234_-24-232del (n.-24-234_-24-232del) c.771_773del (p.Thr258del) c.780_782del (p.Thr261del) | dbSNP |
1 | g.196995879C>A | CA1307856 | CFHR5 | c.515C>A (p.Thr172Lys) n.839C>A c.-24-235C>A (n.-24-235C>A) c.770C>A (p.Thr257Lys) c.779C>A (p.Thr260Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196995879C= | CA1148264793 | CFHR5 | c.515C= (p.Thr172=) n.839C= c.-24-235C= (n.-24-235C=) c.770C= (p.Thr257=) c.779C= (p.Thr260=) | |
1 | g.196995879C>G | CA344005193 | CFHR5 | c.515C>G (p.Thr172Arg) n.839C>G c.-24-235C>G (n.-24-235C>G) c.770C>G (p.Thr257Arg) c.779C>G (p.Thr260Arg) | |
1 | g.196995879C>T | CA344005194 | CFHR5 | c.515C>T (p.Thr172Ile) n.839C>T c.-24-235C>T (n.-24-235C>T) c.770C>T (p.Thr257Ile) c.779C>T (p.Thr260Ile) | |
1 | g.196995880A= | CA1143726170 | CFHR5 | c.516A= (p.Thr172=) n.840A= c.-24-234A= (n.-24-234A=) c.771A= (p.Thr257=) c.780A= (p.Thr260=) | |
1 | g.196995880A>C | CA422802760 | CFHR5 | c.516A>C (p.Thr172=) n.840A>C c.-24-234A>C (n.-24-234A>C) c.771A>C (p.Thr257=) c.780A>C (p.Thr260=) | |
1 | g.196995880A>G | CA1307857 | CFHR5 | c.516A>G (p.Thr172=) n.840A>G c.-24-234A>G (n.-24-234A>G) c.771A>G (p.Thr257=) c.780A>G (p.Thr260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995880A>T | CA422802761 | CFHR5 | c.516A>T (p.Thr172=) n.840A>T c.-24-234A>T (n.-24-234A>T) c.771A>T (p.Thr257=) c.780A>T (p.Thr260=) | |
1 | g.196995881A>C | CA344005195 | CFHR5 | c.517A>C (p.Thr173Pro) n.841A>C c.-24-233A>C (n.-24-233A>C) c.772A>C (p.Thr258Pro) c.781A>C (p.Thr261Pro) | gnomAD v4 |
1 | g.196995881A>G | CA344005196 | CFHR5 | c.517A>G (p.Thr173Ala) n.841A>G c.-24-233A>G (n.-24-233A>G) c.772A>G (p.Thr258Ala) c.781A>G (p.Thr261Ala) | |
1 | g.196995881A>T | CA344005197 | CFHR5 | c.517A>T (p.Thr173Ser) n.841A>T c.-24-233A>T (n.-24-233A>T) c.772A>T (p.Thr258Ser) c.781A>T (p.Thr261Ser) | |
1 | g.196995882C>A | CA344005199 | CFHR5 | c.518C>A (p.Thr173Asn) n.842C>A c.-24-232C>A (n.-24-232C>A) c.773C>A (p.Thr258Asn) c.782C>A (p.Thr261Asn) | |
1 | g.196995882C= | CA1217885083 | CFHR5 | c.518C= (p.Thr173=) n.842C= c.-24-232C= (n.-24-232C=) c.773C= (p.Thr258=) c.782C= (p.Thr261=) | |
1 | g.196995882C>G | CA344005201 | CFHR5 | c.518C>G (p.Thr173Ser) n.842C>G c.-24-232C>G (n.-24-232C>G) c.773C>G (p.Thr258Ser) c.782C>G (p.Thr261Ser) | |
1 | g.196995882C>T | CA1307858 | CFHR5 | c.518C>T (p.Thr173Ile) n.842C>T c.-24-232C>T (n.-24-232C>T) c.773C>T (p.Thr258Ile) c.782C>T (p.Thr261Ile) | dbSNP ExAC gnomAD v2 |
1 | g.196995883T>A | CA422802763 | CFHR5 | c.519T>A (p.Thr173=) n.843T>A c.-24-231T>A (n.-24-231T>A) c.774T>A (p.Thr258=) c.783T>A (p.Thr261=) | |
1 | g.196995883T>C | CA422802764 | CFHR5 | c.519T>C (p.Thr173=) n.843T>C c.-24-231T>C (n.-24-231T>C) c.774T>C (p.Thr258=) c.783T>C (p.Thr261=) | gnomAD v4 |
1 | g.196995883T>G | CA422802765 | CFHR5 | c.519T>G (p.Thr173=) n.843T>G c.-24-231T>G (n.-24-231T>G) c.774T>G (p.Thr258=) c.783T>G (p.Thr261=) | |
1 | g.196995885dup | CA1217885084 | CFHR5 | c.521dup (p.Leu174PhefsTer6) n.845dup c.-24-229dup (n.-24-229dup) c.776dup (p.Leu259PhefsTer6) c.785dup (p.Leu262PhefsTer6) | dbSNP |
1 | g.196995884T>A | CA344005206 | CFHR5 | c.520T>A (p.Leu174Ile) n.844T>A c.-24-230T>A (n.-24-230T>A) c.775T>A (p.Leu259Ile) c.784T>A (p.Leu262Ile) | |
1 | g.196995884T>C | CA422802769 | CFHR5 | c.520T>C (p.Leu174=) n.844T>C c.-24-230T>C (n.-24-230T>C) c.775T>C (p.Leu259=) c.784T>C (p.Leu262=) | |
1 | g.196995884T>G | CA344005203 | CFHR5 | c.520T>G (p.Leu174Val) n.844T>G c.-24-230T>G (n.-24-230T>G) c.775T>G (p.Leu259Val) c.784T>G (p.Leu262Val) | |
1 | g.196995885T>A | CA344005209 | CFHR5 | c.521T>A (p.Leu174Ter) n.845T>A c.-24-229T>A (n.-24-229T>A) c.776T>A (p.Leu259Ter) c.785T>A (p.Leu262Ter) | |
1 | g.196995885T>C | CA344005212 | CFHR5 | c.521T>C (p.Leu174Ser) n.845T>C c.-24-229T>C (n.-24-229T>C) c.776T>C (p.Leu259Ser) c.785T>C (p.Leu262Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196995885T>G | CA344005210 | CFHR5 | c.521T>G (p.Leu174Ter) n.845T>G c.-24-229T>G (n.-24-229T>G) c.776T>G (p.Leu259Ter) c.785T>G (p.Leu262Ter) | |
1 | g.196995885T= | CA1217885085 | CFHR5 | c.521T= (p.Leu174=) n.845T= c.-24-229T= (n.-24-229T=) c.776T= (p.Leu259=) c.785T= (p.Leu262=) | |
1 | g.196995886A>C | CA344005214 | CFHR5 | c.522A>C (p.Leu174Phe) n.846A>C c.-24-228A>C (n.-24-228A>C) c.777A>C (p.Leu259Phe) c.786A>C (p.Leu262Phe) | |
1 | g.196995886A>G | CA422802772 | CFHR5 | c.522A>G (p.Leu174=) n.846A>G c.-24-228A>G (n.-24-228A>G) c.777A>G (p.Leu259=) c.786A>G (p.Leu262=) | COSMIC COSMIC |
1 | g.196995886A>T | CA344005215 | CFHR5 | c.522A>T (p.Leu174Phe) n.846A>T c.-24-228A>T (n.-24-228A>T) c.777A>T (p.Leu259Phe) c.786A>T (p.Leu262Phe) | |
1 | g.196995886_196995887delinsAC | CA1217885086 | CFHR5 | c.522_523delinsAC (p.Leu174=) n.846_847delinsAC c.-24-228_-24-227delinsAC (n.-24-228_-24-227delinsAC) c.777_778delinsAC (p.Leu259=) c.786_787delinsAC (p.Leu262=) | |
1 | g.196995887C>A | CA344005216 | CFHR5 | c.523C>A (p.Pro175Thr) n.847C>A c.-24-227C>A (n.-24-227C>A) c.778C>A (p.Pro260Thr) c.787C>A (p.Pro263Thr) | |
1 | g.196995887C>G | CA344005217 | CFHR5 | c.523C>G (p.Pro175Ala) n.847C>G c.-24-227C>G (n.-24-227C>G) c.778C>G (p.Pro260Ala) c.787C>G (p.Pro263Ala) | |
1 | g.196995887C>T | CA344005218 | CFHR5 | c.523C>T (p.Pro175Ser) n.847C>T c.-24-227C>T (n.-24-227C>T) c.778C>T (p.Pro260Ser) c.787C>T (p.Pro263Ser) | |
1 | g.196995889del | CA1217885087 | CFHR5 | c.525del (p.Thr176LeufsTer6) n.849del c.-24-225del (n.-24-225del) c.780del (p.Thr261LeufsTer6) c.789del (p.Thr264LeufsTer6) | dbSNP |