Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.196996023A>CCA344005319CFHR5c.537A>C (p.Glu179Asp)
n.861A>C
c.-24-91A>C (n.-24-91A>C)
c.792A>C (p.Glu264Asp)
c.801A>C (p.Glu267Asp)
1g.196996023A>GCA422802805CFHR5c.537A>G (p.Glu179=)
n.861A>G
c.-24-91A>G (n.-24-91A>G)
c.792A>G (p.Glu264=)
c.801A>G (p.Glu267=)
1g.196996023A>TCA344005322CFHR5c.537A>T (p.Glu179Asp)
n.861A>T
c.-24-91A>T (n.-24-91A>T)
c.792A>T (p.Glu264Asp)
c.801A>T (p.Glu267Asp)
1g.196996024C>ACA344005325CFHR5c.538C>A (p.Gln180Lys)
n.862C>A
c.-24-90C>A (n.-24-90C>A)
c.793C>A (p.Gln265Lys)
c.802C>A (p.Gln268Lys)
1g.196996024C>GCA344005328CFHR5c.538C>G (p.Gln180Glu)
n.862C>G
c.-24-90C>G (n.-24-90C>G)
c.793C>G (p.Gln265Glu)
c.802C>G (p.Gln268Glu)
1g.196996024C>TCA344005330CFHR5c.538C>T (p.Gln180Ter)
n.862C>T
c.-24-90C>T (n.-24-90C>T)
c.793C>T (p.Gln265Ter)
c.802C>T (p.Gln268Ter)
1g.196996025A>CCA344005332CFHR5c.539A>C (p.Gln180Pro)
n.863A>C
c.-24-89A>C (n.-24-89A>C)
c.794A>C (p.Gln265Pro)
c.803A>C (p.Gln268Pro)
 gnomAD v4
1g.196996025A>GCA344005333CFHR5c.539A>G (p.Gln180Arg)
n.863A>G
c.-24-89A>G (n.-24-89A>G)
c.794A>G (p.Gln265Arg)
c.803A>G (p.Gln268Arg)
1g.196996025A>TCA344005334CFHR5c.539A>T (p.Gln180Leu)
n.863A>T
c.-24-89A>T (n.-24-89A>T)
c.794A>T (p.Gln265Leu)
c.803A>T (p.Gln268Leu)
1g.196996026A>CCA344005340CFHR5c.540A>C (p.Gln180His)
n.864A>C
c.-24-88A>C (n.-24-88A>C)
c.795A>C (p.Gln265His)
c.804A>C (p.Gln268His)
1g.196996026A>GCA422802809CFHR5c.540A>G (p.Gln180=)
n.864A>G
c.-24-88A>G (n.-24-88A>G)
c.795A>G (p.Gln265=)
c.804A>G (p.Gln268=)
1g.196996026A>TCA344005337CFHR5c.540A>T (p.Gln180His)
n.864A>T
c.-24-88A>T (n.-24-88A>T)
c.795A>T (p.Gln265His)
c.804A>T (p.Gln268His)
1g.196996027G>ACA344005342CFHR5c.541G>A (p.Val181Met)
n.865G>A
c.-24-87G>A (n.-24-87G>A)
c.796G>A (p.Val266Met)
c.805G>A (p.Val269Met)
 ClinVar
1g.196996027G>CCA344005344CFHR5c.541G>C (p.Val181Leu)
n.865G>C
c.-24-87G>C (n.-24-87G>C)
c.796G>C (p.Val266Leu)
c.805G>C (p.Val269Leu)
1g.196996027G>TCA344005345CFHR5c.541G>T (p.Val181Leu)
n.865G>T
c.-24-87G>T (n.-24-87G>T)
c.796G>T (p.Val266Leu)
c.805G>T (p.Val269Leu)
1g.196996028T>ACA344005348CFHR5c.542T>A (p.Val181Glu)
n.866T>A
c.-24-86T>A (n.-24-86T>A)
c.797T>A (p.Val266Glu)
c.806T>A (p.Val269Glu)
1g.196996028T>CCA344005351CFHR5c.542T>C (p.Val181Ala)
n.866T>C
c.-24-86T>C (n.-24-86T>C)
c.797T>C (p.Val266Ala)
c.806T>C (p.Val269Ala)
 dbSNP gnomAD v4
1g.196996028T>GCA344005352CFHR5c.542T>G (p.Val181Gly)
n.866T>G
c.-24-86T>G (n.-24-86T>G)
c.797T>G (p.Val266Gly)
c.806T>G (p.Val269Gly)
1g.196996028T=CA1217885155CFHR5c.542T= (p.Val181=)
n.866T=
c.-24-86T= (n.-24-86T=)
c.797T= (p.Val266=)
c.806T= (p.Val269=)
1g.196996029G>ACA422802810CFHR5c.543G>A (p.Val181=)
n.867G>A
c.-24-85G>A (n.-24-85G>A)
c.798G>A (p.Val266=)
c.807G>A (p.Val269=)
 gnomAD v4
1g.196996029G>CCA422802811CFHR5c.543G>C (p.Val181=)
n.867G>C
c.-24-85G>C (n.-24-85G>C)
c.798G>C (p.Val266=)
c.807G>C (p.Val269=)
1g.196996029G>TCA422802812CFHR5c.543G>T (p.Val181=)
n.867G>T
c.-24-85G>T (n.-24-85G>T)
c.798G>T (p.Val266=)
c.807G>T (p.Val269=)
1g.196996030A>CCA344005355CFHR5c.544A>C (p.Lys182Gln)
n.868A>C
c.-24-84A>C (n.-24-84A>C)
c.799A>C (p.Lys267Gln)
c.808A>C (p.Lys270Gln)
1g.196996030A>GCA344005357CFHR5c.544A>G (p.Lys182Glu)
n.868A>G
c.-24-84A>G (n.-24-84A>G)
c.799A>G (p.Lys267Glu)
c.808A>G (p.Lys270Glu)
1g.196996030A>TCA344005359CFHR5c.544A>T (p.Lys182Ter)
n.868A>T
c.-24-84A>T (n.-24-84A>T)
c.799A>T (p.Lys267Ter)
c.808A>T (p.Lys270Ter)
1g.196996031A>CCA344005361CFHR5c.545A>C (p.Lys182Thr)
n.869A>C
c.-24-83A>C (n.-24-83A>C)
c.800A>C (p.Lys267Thr)
c.809A>C (p.Lys270Thr)
1g.196996031A>GCA344005364CFHR5c.545A>G (p.Lys182Arg)
n.869A>G
c.-24-83A>G (n.-24-83A>G)
c.800A>G (p.Lys267Arg)
c.809A>G (p.Lys270Arg)
1g.196996031A>TCA344005367CFHR5c.545A>T (p.Lys182Ile)
n.869A>T
c.-24-83A>T (n.-24-83A>T)
c.800A>T (p.Lys267Ile)
c.809A>T (p.Lys270Ile)
1g.196996032A=CA1217885156CFHR5c.546A= (p.Lys182=)
n.870A=
c.-24-82A= (n.-24-82A=)
c.801A= (p.Lys267=)
c.810A= (p.Lys270=)
1g.196996032A>CCA344005370CFHR5c.546A>C (p.Lys182Asn)
n.870A>C
c.-24-82A>C (n.-24-82A>C)
c.801A>C (p.Lys267Asn)
c.810A>C (p.Lys270Asn)
1g.196996032A>GCA422802814CFHR5c.546A>G (p.Lys182=)
n.870A>G
c.-24-82A>G (n.-24-82A>G)
c.801A>G (p.Lys267=)
c.810A>G (p.Lys270=)
1g.196996032A>TCA344005368CFHR5c.546A>T (p.Lys182Asn)
n.870A>T
c.-24-82A>T (n.-24-82A>T)
c.801A>T (p.Lys267Asn)
c.810A>T (p.Lys270Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.196996033A>CCA344005371CFHR5c.547A>C (p.Thr183Pro)
n.871A>C
c.-24-81A>C (n.-24-81A>C)
c.802A>C (p.Thr268Pro)
c.811A>C (p.Thr271Pro)
1g.196996033A>GCA344005372CFHR5c.547A>G (p.Thr183Ala)
n.871A>G
c.-24-81A>G (n.-24-81A>G)
c.802A>G (p.Thr268Ala)
c.811A>G (p.Thr271Ala)
 gnomAD v4 COSMIC
1g.196996033A>TCA344005374CFHR5c.547A>T (p.Thr183Ser)
n.871A>T
c.-24-81A>T (n.-24-81A>T)
c.802A>T (p.Thr268Ser)
c.811A>T (p.Thr271Ser)
1g.196996034C>ACA344005375CFHR5c.548C>A (p.Thr183Lys)
n.872C>A
c.-24-80C>A (n.-24-80C>A)
c.803C>A (p.Thr268Lys)
c.812C>A (p.Thr271Lys)
1g.196996034C>GCA344005377CFHR5c.548C>G (p.Thr183Arg)
n.872C>G
c.-24-80C>G (n.-24-80C>G)
c.803C>G (p.Thr268Arg)
c.812C>G (p.Thr271Arg)
1g.196996034C>TCA344005378CFHR5c.548C>T (p.Thr183Ile)
n.872C>T
c.-24-80C>T (n.-24-80C>T)
c.803C>T (p.Thr268Ile)
c.812C>T (p.Thr271Ile)
 gnomAD v4
1g.196996034_196996036delinsCATCA1217885157CFHR5c.548_550delinsCAT (p.Thr183=)
n.872_874delinsCAT
c.-24-80_-24-78delinsCAT (n.-24-80_-24-78delinsCAT)
c.803_805delinsCAT (p.Thr268=)
c.812_814delinsCAT (p.Thr271=)
1g.196996035A=CA1144109542CFHR5c.549A= (p.Thr183=)
n.873A=
c.-24-79A= (n.-24-79A=)
c.804A= (p.Thr268=)
c.813A= (p.Thr271=)
1g.196996035A>CCA422802820CFHR5c.549A>C (p.Thr183=)
n.873A>C
c.-24-79A>C (n.-24-79A>C)
c.804A>C (p.Thr268=)
c.813A>C (p.Thr271=)
1g.196996035A>GCA422802818CFHR5c.549A>G (p.Thr183=)
n.873A>G
c.-24-79A>G (n.-24-79A>G)
c.804A>G (p.Thr268=)
c.813A>G (p.Thr271=)
1g.196996035A>TCA1307881CFHR5c.549A>T (p.Thr183=)
n.873A>T
c.-24-79A>T (n.-24-79A>T)
c.804A>T (p.Thr268=)
c.813A>T (p.Thr271=)
 dbSNP ExAC gnomAD v2
1g.196996035_196996036delCA35878547CFHR5c.549_550del (p.Cys184TrpfsTer5)
n.873_874del
c.-24-79_-24-78del (n.-24-79_-24-78del)
c.804_805del (p.Cys269TrpfsTer5)
c.813_814del (p.Cys272TrpfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196996035_196996036delinsATCA1141262417CFHR5c.549_550delinsAT (p.Thr183=)
n.873_874delinsAT
c.-24-79_-24-78delinsAT (n.-24-79_-24-78delinsAT)
c.804_805delinsAT (p.Thr268=)
c.813_814delinsAT (p.Thr271=)
1g.196996036T>ACA344005382CFHR5c.550T>A (p.Cys184Ser)
n.874T>A
c.-24-78T>A (n.-24-78T>A)
c.805T>A (p.Cys269Ser)
c.814T>A (p.Cys272Ser)
1g.196996036T>CCA1307882CFHR5c.550T>C (p.Cys184Arg)
n.874T>C
c.-24-78T>C (n.-24-78T>C)
c.805T>C (p.Cys269Arg)
c.814T>C (p.Cys272Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996036T>GCA344005389CFHR5c.550T>G (p.Cys184Gly)
n.874T>G
c.-24-78T>G (n.-24-78T>G)
c.805T>G (p.Cys269Gly)
c.814T>G (p.Cys272Gly)
1g.196996036T=CA1217885158CFHR5c.550T= (p.Cys184=)
n.874T=
c.-24-78T= (n.-24-78T=)
c.805T= (p.Cys269=)
c.814T= (p.Cys272=)
1g.196996037G>ACA1307883CFHR5c.551G>A (p.Cys184Tyr)
n.875G>A
c.-24-77G>A (n.-24-77G>A)
c.806G>A (p.Cys269Tyr)
c.815G>A (p.Cys272Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996037G>CCA344005397CFHR5c.551G>C (p.Cys184Ser)
n.875G>C
c.-24-77G>C (n.-24-77G>C)
c.806G>C (p.Cys269Ser)
c.815G>C (p.Cys272Ser)
1g.196996037G=CA1148459257CFHR5c.551G= (p.Cys184=)
n.875G=
c.-24-77G= (n.-24-77G=)
c.806G= (p.Cys269=)
c.815G= (p.Cys272=)
1g.196996037G>TCA344005400CFHR5c.551G>T (p.Cys184Phe)
n.875G>T
c.-24-77G>T (n.-24-77G>T)
c.806G>T (p.Cys269Phe)
c.815G>T (p.Cys272Phe)
1g.196996038T>ACA344005402CFHR5c.552T>A (p.Cys184Ter)
n.876T>A
c.-24-76T>A (n.-24-76T>A)
c.807T>A (p.Cys269Ter)
c.816T>A (p.Cys272Ter)
1g.196996038T>CCA422802822CFHR5c.552T>C (p.Cys184=)
n.876T>C
c.-24-76T>C (n.-24-76T>C)
c.807T>C (p.Cys269=)
c.816T>C (p.Cys272=)
1g.196996038T>GCA344005404CFHR5c.552T>G (p.Cys184Trp)
n.876T>G
c.-24-76T>G (n.-24-76T>G)
c.807T>G (p.Cys269Trp)
c.816T>G (p.Cys272Trp)
1g.196996039G>ACA35878560CFHR5c.553G>A (p.Gly185Arg)
n.877G>A
c.-24-75G>A (n.-24-75G>A)
c.808G>A (p.Gly270Arg)
c.817G>A (p.Gly273Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.196996039G>CCA344005405CFHR5c.553G>C (p.Gly185Arg)
n.877G>C
c.-24-75G>C (n.-24-75G>C)
c.808G>C (p.Gly270Arg)
c.817G>C (p.Gly273Arg)
1g.196996039G=CA1217885159CFHR5c.553G= (p.Gly185=)
n.877G=
c.-24-75G= (n.-24-75G=)
c.808G= (p.Gly270=)
c.817G= (p.Gly273=)
1g.196996039G>TCA344005406CFHR5c.553G>T (p.Gly185Ter)
n.877G>T
c.-24-75G>T (n.-24-75G>T)
c.808G>T (p.Gly270Ter)
c.817G>T (p.Gly273Ter)
 gnomAD v4
1g.196996040G>ACA1307884CFHR5c.554G>A (p.Gly185Glu)
n.878G>A
c.-24-74G>A (n.-24-74G>A)
c.809G>A (p.Gly270Glu)
c.818G>A (p.Gly273Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.196996040G>CCA344005408CFHR5c.554G>C (p.Gly185Ala)
n.878G>C
c.-24-74G>C (n.-24-74G>C)
c.809G>C (p.Gly270Ala)
c.818G>C (p.Gly273Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196996040G=CA1217885160CFHR5c.554G= (p.Gly185=)
n.878G=
c.-24-74G= (n.-24-74G=)
c.809G= (p.Gly270=)
c.818G= (p.Gly273=)
1g.196996040G>TCA344005410CFHR5c.554G>T (p.Gly185Val)
n.878G>T
c.-24-74G>T (n.-24-74G>T)
c.809G>T (p.Gly270Val)
c.818G>T (p.Gly273Val)
 dbSNP
1g.196996041A=CA1217885161CFHR5c.555A= (p.Gly185=)
n.879A=
c.-24-73A= (n.-24-73A=)
c.810A= (p.Gly270=)
c.819A= (p.Gly273=)
1g.196996041A>CCA422802824CFHR5c.555A>C (p.Gly185=)
n.879A>C
c.-24-73A>C (n.-24-73A>C)
c.810A>C (p.Gly270=)
c.819A>C (p.Gly273=)
1g.196996041A>GCA422802825CFHR5c.555A>G (p.Gly185=)
n.879A>G
c.-24-73A>G (n.-24-73A>G)
c.810A>G (p.Gly270=)
c.819A>G (p.Gly273=)
1g.196996041A>TCA422802826CFHR5c.555A>T (p.Gly185=)
n.879A>T
c.-24-73A>T (n.-24-73A>T)
c.810A>T (p.Gly270=)
c.819A>T (p.Gly273=)
1g.196996042T>ACA344005412CFHR5c.556T>A (p.Tyr186Asn)
n.880T>A
c.-24-72T>A (n.-24-72T>A)
c.811T>A (p.Tyr271Asn)
c.820T>A (p.Tyr274Asn)
1g.196996042T>CCA344005413CFHR5c.556T>C (p.Tyr186His)
n.880T>C
c.-24-72T>C (n.-24-72T>C)
c.811T>C (p.Tyr271His)
c.820T>C (p.Tyr274His)
1g.196996042T>GCA344005414CFHR5c.556T>G (p.Tyr186Asp)
n.880T>G
c.-24-72T>G (n.-24-72T>G)
c.811T>G (p.Tyr271Asp)
c.820T>G (p.Tyr274Asp)
1g.196996042_196996043insTTCA1217885162CFHR5c.556_557insTT (p.Tyr186PhefsTer26)
n.880_881insTT
c.-24-72_-24-71insTT (n.-24-72_-24-71insTT)
c.811_812insTT (p.Tyr271PhefsTer26)
c.820_821insTT (p.Tyr274PhefsTer26)
 dbSNP
1g.196996043A=CA1217885163CFHR5c.557A= (p.Tyr186=)
n.881A=
c.-24-71A= (n.-24-71A=)
c.812A= (p.Tyr271=)
c.821A= (p.Tyr274=)
1g.196996043A>CCA344005416CFHR5c.557A>C (p.Tyr186Ser)
n.881A>C
c.-24-71A>C (n.-24-71A>C)
c.812A>C (p.Tyr271Ser)
c.821A>C (p.Tyr274Ser)
1g.196996043A>GCA344005418CFHR5c.557A>G (p.Tyr186Cys)
n.881A>G
c.-24-71A>G (n.-24-71A>G)
c.812A>G (p.Tyr271Cys)
c.821A>G (p.Tyr274Cys)
 dbSNP gnomAD v4
1g.196996043A>TCA344005421CFHR5c.557A>T (p.Tyr186Phe)
n.881A>T
c.-24-71A>T (n.-24-71A>T)
c.812A>T (p.Tyr271Phe)
c.821A>T (p.Tyr274Phe)
1g.196996044C>ACA344005423CFHR5c.558C>A (p.Tyr186Ter)
n.882C>A
c.-24-70C>A (n.-24-70C>A)
c.813C>A (p.Tyr271Ter)
c.822C>A (p.Tyr274Ter)
 gnomAD v4
1g.196996044C>GCA344005424CFHR5c.558C>G (p.Tyr186Ter)
n.882C>G
c.-24-70C>G (n.-24-70C>G)
c.813C>G (p.Tyr271Ter)
c.822C>G (p.Tyr274Ter)
1g.196996044C>TCA422802829CFHR5c.558C>T (p.Tyr186=)
n.882C>T
c.-24-70C>T (n.-24-70C>T)
c.813C>T (p.Tyr271=)
c.822C>T (p.Tyr274=)
1g.196996045A>CCA344005426CFHR5c.559A>C (p.Ile187Leu)
n.883A>C
c.-24-69A>C (n.-24-69A>C)
c.814A>C (p.Ile272Leu)
c.823A>C (p.Ile275Leu)
1g.196996045A>GCA344005429CFHR5c.559A>G (p.Ile187Val)
n.883A>G
c.-24-69A>G (n.-24-69A>G)
c.814A>G (p.Ile272Val)
c.823A>G (p.Ile275Val)
1g.196996045A>TCA344005427CFHR5c.559A>T (p.Ile187Leu)
n.883A>T
c.-24-69A>T (n.-24-69A>T)
c.814A>T (p.Ile272Leu)
c.823A>T (p.Ile275Leu)
1g.196996046T>ACA344005432CFHR5c.560T>A (p.Ile187Lys)
n.884T>A
c.-24-68T>A (n.-24-68T>A)
c.815T>A (p.Ile272Lys)
c.824T>A (p.Ile275Lys)
1g.196996046T>CCA344005434CFHR5c.560T>C (p.Ile187Thr)
n.884T>C
c.-24-68T>C (n.-24-68T>C)
c.815T>C (p.Ile272Thr)
c.824T>C (p.Ile275Thr)
1g.196996046T>GCA344005436CFHR5c.560T>G (p.Ile187Arg)
n.884T>G
c.-24-68T>G (n.-24-68T>G)
c.815T>G (p.Ile272Arg)
c.824T>G (p.Ile275Arg)
1g.196996046T=CA1217885164CFHR5c.560T= (p.Ile187=)
n.884T=
c.-24-68T= (n.-24-68T=)
c.815T= (p.Ile272=)
c.824T= (p.Ile275=)
1g.196996047A>CCA422802832CFHR5c.561A>C (p.Ile187=)
n.885A>C
c.-24-67A>C (n.-24-67A>C)
c.816A>C (p.Ile272=)
c.825A>C (p.Ile275=)
1g.196996047A>GCA344005438CFHR5c.561A>G (p.Ile187Met)
n.885A>G
c.-24-67A>G (n.-24-67A>G)
c.816A>G (p.Ile272Met)
c.825A>G (p.Ile275Met)
1g.196996047A>TCA422802834CFHR5c.561A>T (p.Ile187=)
n.885A>T
c.-24-67A>T (n.-24-67A>T)
c.816A>T (p.Ile272=)
c.825A>T (p.Ile275=)
1g.196996047_196996048dupCA1010880314CFHR5c.561_562dup (p.Pro188HisfsTer24)
n.885_886dup
c.-24-67_-24-66dup (n.-24-67_-24-66dup)
c.816_817dup (p.Pro273HisfsTer24)
c.825_826dup (p.Pro276HisfsTer24)
 dbSNP gnomAD v3 gnomAD v4
1g.196996048C>ACA1307885CFHR5c.562C>A (p.Pro188Thr)
n.886C>A
c.-24-66C>A (n.-24-66C>A)
c.817C>A (p.Pro273Thr)
c.826C>A (p.Pro276Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.196996048C=CA1217885165CFHR5c.562C= (p.Pro188=)
n.886C=
c.-24-66C= (n.-24-66C=)
c.817C= (p.Pro273=)
c.826C= (p.Pro276=)
1g.196996048C>GCA344005443CFHR5c.562C>G (p.Pro188Ala)
n.886C>G
c.-24-66C>G (n.-24-66C>G)
c.817C>G (p.Pro273Ala)
c.826C>G (p.Pro276Ala)
1g.196996048C>TCA344005444CFHR5c.562C>T (p.Pro188Ser)
n.886C>T
c.-24-66C>T (n.-24-66C>T)
c.817C>T (p.Pro273Ser)
c.826C>T (p.Pro276Ser)
1g.196996049C>ACA344005447CFHR5c.563C>A (p.Pro188His)
n.887C>A
c.-24-65C>A (n.-24-65C>A)
c.818C>A (p.Pro273His)
c.827C>A (p.Pro276His)
1g.196996049C=CA1217885166CFHR5c.563C= (p.Pro188=)
n.887C=
c.-24-65C= (n.-24-65C=)
c.818C= (p.Pro273=)
c.827C= (p.Pro276=)
1g.196996049C>GCA344005450CFHR5c.563C>G (p.Pro188Arg)
n.887C>G
c.-24-65C>G (n.-24-65C>G)
c.818C>G (p.Pro273Arg)
c.827C>G (p.Pro276Arg)
 dbSNP
1g.196996049C>TCA344005451CFHR5c.563C>T (p.Pro188Leu)
n.887C>T
c.-24-65C>T (n.-24-65C>T)
c.818C>T (p.Pro273Leu)
c.827C>T (p.Pro276Leu)
1g.196996050T>ACA1307886CFHR5c.564T>A (p.Pro188=)
n.888T>A
c.-24-64T>A (n.-24-64T>A)
c.819T>A (p.Pro273=)
c.828T>A (p.Pro276=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996050T>CCA422802836CFHR5c.564T>C (p.Pro188=)
n.888T>C
c.-24-64T>C (n.-24-64T>C)
c.819T>C (p.Pro273=)
c.828T>C (p.Pro276=)
1g.196996050T>GCA422802838CFHR5c.564T>G (p.Pro188=)
n.888T>G
c.-24-64T>G (n.-24-64T>G)
c.819T>G (p.Pro273=)
c.828T>G (p.Pro276=)
1g.196996050T=CA1217885167CFHR5c.564T= (p.Pro188=)
n.888T=
c.-24-64T= (n.-24-64T=)
c.819T= (p.Pro273=)
c.828T= (p.Pro276=)
1g.196996051G>ACA344005456CFHR5c.565G>A (p.Glu189Lys)
n.889G>A
c.-24-63G>A (n.-24-63G>A)
c.820G>A (p.Glu274Lys)
c.829G>A (p.Glu277Lys)
1g.196996051G>CCA344005454CFHR5c.565G>C (p.Glu189Gln)
n.889G>C
c.-24-63G>C (n.-24-63G>C)
c.820G>C (p.Glu274Gln)
c.829G>C (p.Glu277Gln)
1g.196996051G>TCA344005453CFHR5c.565G>T (p.Glu189Ter)
n.889G>T
c.-24-63G>T (n.-24-63G>T)
c.820G>T (p.Glu274Ter)
c.829G>T (p.Glu277Ter)
1g.196996052A>CCA344005458CFHR5c.566A>C (p.Glu189Ala)
n.890A>C
c.-24-62A>C (n.-24-62A>C)
c.821A>C (p.Glu274Ala)
c.830A>C (p.Glu277Ala)
1g.196996052A>GCA344005460CFHR5c.566A>G (p.Glu189Gly)
n.890A>G
c.-24-62A>G (n.-24-62A>G)
c.821A>G (p.Glu274Gly)
c.830A>G (p.Glu277Gly)
1g.196996052A>TCA344005462CFHR5c.566A>T (p.Glu189Val)
n.890A>T
c.-24-62A>T (n.-24-62A>T)
c.821A>T (p.Glu274Val)
c.830A>T (p.Glu277Val)
1g.196996053A>CCA344005465CFHR5c.567A>C (p.Glu189Asp)
n.891A>C
c.-24-61A>C (n.-24-61A>C)
c.822A>C (p.Glu274Asp)
c.831A>C (p.Glu277Asp)
1g.196996053A>GCA422802840CFHR5c.567A>G (p.Glu189=)
n.891A>G
c.-24-61A>G (n.-24-61A>G)
c.822A>G (p.Glu274=)
c.831A>G (p.Glu277=)
1g.196996053A>TCA344005466CFHR5c.567A>T (p.Glu189Asp)
n.891A>T
c.-24-61A>T (n.-24-61A>T)
c.822A>T (p.Glu274Asp)
c.831A>T (p.Glu277Asp)
1g.196996054C>ACA344005469CFHR5c.568C>A (p.Leu190Ile)
n.892C>A
c.-24-60C>A (n.-24-60C>A)
c.823C>A (p.Leu275Ile)
c.832C>A (p.Leu278Ile)
1g.196996054C=CA1217885168CFHR5c.568C= (p.Leu190=)
n.892C=
c.-24-60C= (n.-24-60C=)
c.823C= (p.Leu275=)
c.832C= (p.Leu278=)
1g.196996054C>GCA344005472CFHR5c.568C>G (p.Leu190Val)
n.892C>G
c.-24-60C>G (n.-24-60C>G)
c.823C>G (p.Leu275Val)
c.832C>G (p.Leu278Val)
1g.196996054C>TCA1307887CFHR5c.568C>T (p.Leu190Phe)
n.892C>T
c.-24-60C>T (n.-24-60C>T)
c.823C>T (p.Leu275Phe)
c.832C>T (p.Leu278Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996055T>ACA344005475CFHR5c.569T>A (p.Leu190His)
n.893T>A
c.-24-59T>A (n.-24-59T>A)
c.824T>A (p.Leu275His)
c.833T>A (p.Leu278His)
1g.196996055T>CCA344005476CFHR5c.569T>C (p.Leu190Pro)
n.893T>C
c.-24-59T>C (n.-24-59T>C)
c.824T>C (p.Leu275Pro)
c.833T>C (p.Leu278Pro)
1g.196996055T>GCA344005477CFHR5c.569T>G (p.Leu190Arg)
n.893T>G
c.-24-59T>G (n.-24-59T>G)
c.824T>G (p.Leu275Arg)
c.833T>G (p.Leu278Arg)
1g.196996056C>ACA422802842CFHR5c.570C>A (p.Leu190=)
n.894C>A
c.-24-58C>A (n.-24-58C>A)
c.825C>A (p.Leu275=)
c.834C>A (p.Leu278=)
 COSMIC COSMIC
1g.196996056C=CA1217885169CFHR5c.570C= (p.Leu190=)
n.894C=
c.-24-58C= (n.-24-58C=)
c.825C= (p.Leu275=)
c.834C= (p.Leu278=)
1g.196996056C>GCA422802843CFHR5c.570C>G (p.Leu190=)
n.894C>G
c.-24-58C>G (n.-24-58C>G)
c.825C>G (p.Leu275=)
c.834C>G (p.Leu278=)
1g.196996056C>TCA1307888CFHR5c.570C>T (p.Leu190=)
n.894C>T
c.-24-58C>T (n.-24-58C>T)
c.825C>T (p.Leu275=)
c.834C>T (p.Leu278=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996057G>ACA1307889CFHR5c.571G>A (p.Glu191Lys)
n.895G>A
c.-24-57G>A (n.-24-57G>A)
c.826G>A (p.Glu276Lys)
c.835G>A (p.Glu279Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.196996057G>CCA344005480CFHR5c.571G>C (p.Glu191Gln)
n.895G>C
c.-24-57G>C (n.-24-57G>C)
c.826G>C (p.Glu276Gln)
c.835G>C (p.Glu279Gln)
1g.196996057G=CA1143358665CFHR5c.571G= (p.Glu191=)
n.895G=
c.-24-57G= (n.-24-57G=)
c.826G= (p.Glu276=)
c.835G= (p.Glu279=)
1g.196996057G>TCA344005479CFHR5c.571G>T (p.Glu191Ter)
n.895G>T
c.-24-57G>T (n.-24-57G>T)
c.826G>T (p.Glu276Ter)
c.835G>T (p.Glu279Ter)
1g.196996058A>CCA344005482CFHR5c.572A>C (p.Glu191Ala)
n.896A>C
c.-24-56A>C (n.-24-56A>C)
c.827A>C (p.Glu276Ala)
c.836A>C (p.Glu279Ala)
1g.196996058A>GCA344005484CFHR5c.572A>G (p.Glu191Gly)
n.896A>G
c.-24-56A>G (n.-24-56A>G)
c.827A>G (p.Glu276Gly)
c.836A>G (p.Glu279Gly)
1g.196996058A>TCA344005485CFHR5c.572A>T (p.Glu191Val)
n.896A>T
c.-24-56A>T (n.-24-56A>T)
c.827A>T (p.Glu276Val)
c.836A>T (p.Glu279Val)
1g.196996059G>ACA422802847CFHR5c.573G>A (p.Glu191=)
n.897G>A
c.-24-55G>A (n.-24-55G>A)
c.828G>A (p.Glu276=)
c.837G>A (p.Glu279=)
1g.196996059G>CCA344005488CFHR5c.573G>C (p.Glu191Asp)
n.897G>C
c.-24-55G>C (n.-24-55G>C)
c.828G>C (p.Glu276Asp)
c.837G>C (p.Glu279Asp)
1g.196996059G>TCA344005490CFHR5c.573G>T (p.Glu191Asp)
n.897G>T
c.-24-55G>T (n.-24-55G>T)
c.828G>T (p.Glu276Asp)
c.837G>T (p.Glu279Asp)
1g.196996060T>ACA220087CFHR5c.574T>A (p.Tyr192Asn)
n.898T>A
c.-24-54T>A (n.-24-54T>A)
c.829T>A (p.Tyr277Asn)
c.838T>A (p.Tyr280Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196996060T>CCA344005493CFHR5c.574T>C (p.Tyr192His)
n.898T>C
c.-24-54T>C (n.-24-54T>C)
c.829T>C (p.Tyr277His)
c.838T>C (p.Tyr280His)
1g.196996060T>GCA344005491CFHR5c.574T>G (p.Tyr192Asp)
n.898T>G
c.-24-54T>G (n.-24-54T>G)
c.829T>G (p.Tyr277Asp)
c.838T>G (p.Tyr280Asp)
1g.196996060T=CA1143538549CFHR5c.574T= (p.Tyr192=)
n.898T=
c.-24-54T= (n.-24-54T=)
c.829T= (p.Tyr277=)
c.838T= (p.Tyr280=)
1g.196996061A=CA1217885170CFHR5c.575A= (p.Tyr192=)
n.899A=
c.-24-53A= (n.-24-53A=)
c.830A= (p.Tyr277=)
c.839A= (p.Tyr280=)
1g.196996061A>CCA344005496CFHR5c.575A>C (p.Tyr192Ser)
n.899A>C
c.-24-53A>C (n.-24-53A>C)
c.830A>C (p.Tyr277Ser)
c.839A>C (p.Tyr280Ser)
1g.196996061A>GCA1307890CFHR5c.575A>G (p.Tyr192Cys)
n.899A>G
c.-24-53A>G (n.-24-53A>G)
c.830A>G (p.Tyr277Cys)
c.839A>G (p.Tyr280Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996061A>TCA344005505CFHR5c.575A>T (p.Tyr192Phe)
n.899A>T
c.-24-53A>T (n.-24-53A>T)
c.830A>T (p.Tyr277Phe)
c.839A>T (p.Tyr280Phe)
1g.196996062C>ACA344005506CFHR5c.576C>A (p.Tyr192Ter)
n.900C>A
c.-24-52C>A (n.-24-52C>A)
c.831C>A (p.Tyr277Ter)
c.840C>A (p.Tyr280Ter)
 gnomAD v4
1g.196996062C=CA1143542265CFHR5c.576C= (p.Tyr192=)
n.900C=
c.-24-52C= (n.-24-52C=)
c.831C= (p.Tyr277=)
c.840C= (p.Tyr280=)
1g.196996062C>GCA344005509CFHR5c.576C>G (p.Tyr192Ter)
n.900C>G
c.-24-52C>G (n.-24-52C>G)
c.831C>G (p.Tyr277Ter)
c.840C>G (p.Tyr280Ter)
1g.196996062C>TCA1307891CFHR5c.576C>T (p.Tyr192=)
n.900C>T
c.-24-52C>T (n.-24-52C>T)
c.831C>T (p.Tyr277=)
c.840C>T (p.Tyr280=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.196996063G>ACA1307892CFHR5c.577G>A (p.Gly193Ser)
n.901G>A
c.-24-51G>A (n.-24-51G>A)
c.832G>A (p.Gly278Ser)
c.841G>A (p.Gly281Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996063G>CCA344005526CFHR5c.577G>C (p.Gly193Arg)
n.901G>C
c.-24-51G>C (n.-24-51G>C)
c.832G>C (p.Gly278Arg)
c.841G>C (p.Gly281Arg)
 gnomAD v4
1g.196996063G=CA1141653787CFHR5c.577G= (p.Gly193=)
n.901G=
c.-24-51G= (n.-24-51G=)
c.832G= (p.Gly278=)
c.841G= (p.Gly281=)
1g.196996063G>TCA344005523CFHR5c.577G>T (p.Gly193Cys)
n.901G>T
c.-24-51G>T (n.-24-51G>T)
c.832G>T (p.Gly278Cys)
c.841G>T (p.Gly281Cys)
 dbSNP gnomAD v4
1g.196996064G>ACA344005528CFHR5c.578G>A (p.Gly193Asp)
n.902G>A
c.-24-50G>A (n.-24-50G>A)
c.833G>A (p.Gly278Asp)
c.842G>A (p.Gly281Asp)
1g.196996064G>CCA344005531CFHR5c.578G>C (p.Gly193Ala)
n.902G>C
c.-24-50G>C (n.-24-50G>C)
c.833G>C (p.Gly278Ala)
c.842G>C (p.Gly281Ala)
1g.196996064G=CA1217885171CFHR5c.578G= (p.Gly193=)
n.902G=
c.-24-50G= (n.-24-50G=)
c.833G= (p.Gly278=)
c.842G= (p.Gly281=)
1g.196996064G>TCA35878589CFHR5c.578G>T (p.Gly193Val)
n.902G>T
c.-24-50G>T (n.-24-50G>T)
c.833G>T (p.Gly278Val)
c.842G>T (p.Gly281Val)
 dbSNP
1g.196996065T>ACA422802854CFHR5c.579T>A (p.Gly193=)
n.903T>A
c.-24-49T>A (n.-24-49T>A)
c.834T>A (p.Gly278=)
c.843T>A (p.Gly281=)
1g.196996065T>CCA422802852CFHR5c.579T>C (p.Gly193=)
n.903T>C
c.-24-49T>C (n.-24-49T>C)
c.834T>C (p.Gly278=)
c.843T>C (p.Gly281=)
1g.196996065T>GCA422802853CFHR5c.579T>G (p.Gly193=)
n.903T>G
c.-24-49T>G (n.-24-49T>G)
c.834T>G (p.Gly278=)
c.843T>G (p.Gly281=)
1g.196996066T>ACA1307893CFHR5c.580T>A (p.Tyr194Asn)
n.904T>A
c.-24-48T>A (n.-24-48T>A)
c.835T>A (p.Tyr279Asn)
c.844T>A (p.Tyr282Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996066T>CCA344005535CFHR5c.580T>C (p.Tyr194His)
n.904T>C
c.-24-48T>C (n.-24-48T>C)
c.835T>C (p.Tyr279His)
c.844T>C (p.Tyr282His)
1g.196996066T>GCA344005537CFHR5c.580T>G (p.Tyr194Asp)
n.904T>G
c.-24-48T>G (n.-24-48T>G)
c.835T>G (p.Tyr279Asp)
c.844T>G (p.Tyr282Asp)
 gnomAD v4
1g.196996066T=CA1141917924CFHR5c.580T= (p.Tyr194=)
n.904T=
c.-24-48T= (n.-24-48T=)
c.835T= (p.Tyr279=)
c.844T= (p.Tyr282=)
1g.196996067A>CCA344005541CFHR5c.581A>C (p.Tyr194Ser)
n.905A>C
c.-24-47A>C (n.-24-47A>C)
c.836A>C (p.Tyr279Ser)
c.845A>C (p.Tyr282Ser)
1g.196996067A>GCA344005544CFHR5c.581A>G (p.Tyr194Cys)
n.905A>G
c.-24-47A>G (n.-24-47A>G)
c.836A>G (p.Tyr279Cys)
c.845A>G (p.Tyr282Cys)
1g.196996067A>TCA344005547CFHR5c.581A>T (p.Tyr194Phe)
n.905A>T
c.-24-47A>T (n.-24-47A>T)
c.836A>T (p.Tyr279Phe)
c.845A>T (p.Tyr282Phe)
1g.196996068T>ACA344005548CFHR5c.582T>A (p.Tyr194Ter)
n.906T>A
c.-24-46T>A (n.-24-46T>A)
c.837T>A (p.Tyr279Ter)
c.846T>A (p.Tyr282Ter)
1g.196996068T>CCA422802858CFHR5c.582T>C (p.Tyr194=)
n.906T>C
c.-24-46T>C (n.-24-46T>C)
c.837T>C (p.Tyr279=)
c.846T>C (p.Tyr282=)
 dbSNP gnomAD v4
1g.196996068T>GCA344005551CFHR5c.582T>G (p.Tyr194Ter)
n.906T>G
c.-24-46T>G (n.-24-46T>G)
c.837T>G (p.Tyr279Ter)
c.846T>G (p.Tyr282Ter)
 gnomAD v4
1g.196996068T=CA1217885172CFHR5c.582T= (p.Tyr194=)
n.906T=
c.-24-46T= (n.-24-46T=)
c.837T= (p.Tyr279=)
c.846T= (p.Tyr282=)
1g.196996069G>ACA344005556CFHR5c.583G>A (p.Val195Ile)
n.907G>A
c.-24-45G>A (n.-24-45G>A)
c.838G>A (p.Val280Ile)
c.847G>A (p.Val283Ile)
 gnomAD v4
1g.196996069G>CCA344005557CFHR5c.583G>C (p.Val195Leu)
n.907G>C
c.-24-45G>C (n.-24-45G>C)
c.838G>C (p.Val280Leu)
c.847G>C (p.Val283Leu)
1g.196996069G>TCA344005553CFHR5c.583G>T (p.Val195Phe)
n.907G>T
c.-24-45G>T (n.-24-45G>T)
c.838G>T (p.Val280Phe)
c.847G>T (p.Val283Phe)
 gnomAD v4
1g.196996070T>ACA344005559CFHR5c.584T>A (p.Val195Asp)
n.908T>A
c.-24-44T>A (n.-24-44T>A)
c.839T>A (p.Val280Asp)
c.848T>A (p.Val283Asp)
1g.196996070T>CCA344005558CFHR5c.584T>C (p.Val195Ala)
n.908T>C
c.-24-44T>C (n.-24-44T>C)
c.839T>C (p.Val280Ala)
c.848T>C (p.Val283Ala)
1g.196996070T>GCA344005560CFHR5c.584T>G (p.Val195Gly)
n.908T>G
c.-24-44T>G (n.-24-44T>G)
c.839T>G (p.Val280Gly)
c.848T>G (p.Val283Gly)
 gnomAD v4
1g.196996071T>ACA422802860CFHR5c.585T>A (p.Val195=)
n.909T>A
c.-24-43T>A (n.-24-43T>A)
c.840T>A (p.Val280=)
c.849T>A (p.Val283=)
1g.196996071T>CCA422802861CFHR5c.585T>C (p.Val195=)
n.909T>C
c.-24-43T>C (n.-24-43T>C)
c.840T>C (p.Val280=)
c.849T>C (p.Val283=)
1g.196996071T>GCA422802862CFHR5c.585T>G (p.Val195=)
n.909T>G
c.-24-43T>G (n.-24-43T>G)
c.840T>G (p.Val280=)
c.849T>G (p.Val283=)
 gnomAD v4
1g.196996072C>ACA344005562CFHR5c.586C>A (p.Gln196Lys)
n.910C>A
c.-24-42C>A (n.-24-42C>A)
c.841C>A (p.Gln281Lys)
c.850C>A (p.Gln284Lys)
 ClinVar
1g.196996072C=CA1217885173CFHR5c.586C= (p.Gln196=)
n.910C=
c.-24-42C= (n.-24-42C=)
c.841C= (p.Gln281=)
c.850C= (p.Gln284=)
1g.196996072C>GCA344005564CFHR5c.586C>G (p.Gln196Glu)
n.910C>G
c.-24-42C>G (n.-24-42C>G)
c.841C>G (p.Gln281Glu)
c.850C>G (p.Gln284Glu)
1g.196996072C>TCA344005565CFHR5c.586C>T (p.Gln196Ter)
n.910C>T
c.-24-42C>T (n.-24-42C>T)
c.841C>T (p.Gln281Ter)
c.850C>T (p.Gln284Ter)
 dbSNP gnomAD v4
1g.196996073A=CA1217885174CFHR5c.587A= (p.Gln196=)
n.911A=
c.-24-41A= (n.-24-41A=)
c.842A= (p.Gln281=)
c.851A= (p.Gln284=)
1g.196996073A>CCA344005574CFHR5c.587A>C (p.Gln196Pro)
n.911A>C
c.-24-41A>C (n.-24-41A>C)
c.842A>C (p.Gln281Pro)
c.851A>C (p.Gln284Pro)
1g.196996073A>GCA344005577CFHR5c.587A>G (p.Gln196Arg)
n.911A>G
c.-24-41A>G (n.-24-41A>G)
c.842A>G (p.Gln281Arg)
c.851A>G (p.Gln284Arg)
 dbSNP gnomAD v4
1g.196996073A>TCA344005579CFHR5c.587A>T (p.Gln196Leu)
n.911A>T
c.-24-41A>T (n.-24-41A>T)
c.842A>T (p.Gln281Leu)
c.851A>T (p.Gln284Leu)
1g.196996074G>ACA422802865CFHR5c.588G>A (p.Gln196=)
n.912G>A
c.-24-40G>A (n.-24-40G>A)
c.843G>A (p.Gln281=)
c.852G>A (p.Gln284=)
 gnomAD v4
1g.196996074G>CCA344005581CFHR5c.588G>C (p.Gln196His)
n.912G>C
c.-24-40G>C (n.-24-40G>C)
c.843G>C (p.Gln281His)
c.852G>C (p.Gln284His)
 dbSNP gnomAD v3 gnomAD v4
1g.196996074G=CA1217885175CFHR5c.588G= (p.Gln196=)
n.912G=
c.-24-40G= (n.-24-40G=)
c.843G= (p.Gln281=)
c.852G= (p.Gln284=)
1g.196996074G>TCA344005582CFHR5c.588G>T (p.Gln196His)
n.912G>T
c.-24-40G>T (n.-24-40G>T)
c.843G>T (p.Gln281His)
c.852G>T (p.Gln284His)
1g.196996075C>ACA344005584CFHR5c.589C>A (p.Pro197Thr)
n.913C>A
c.-24-39C>A (n.-24-39C>A)
c.844C>A (p.Pro282Thr)
c.853C>A (p.Pro285Thr)
1g.196996075C>GCA344005587CFHR5c.589C>G (p.Pro197Ala)
n.913C>G
c.-24-39C>G (n.-24-39C>G)
c.844C>G (p.Pro282Ala)
c.853C>G (p.Pro285Ala)
1g.196996075C>TCA344005588CFHR5c.589C>T (p.Pro197Ser)
n.913C>T
c.-24-39C>T (n.-24-39C>T)
c.844C>T (p.Pro282Ser)
c.853C>T (p.Pro285Ser)
1g.196996076C>ACA344005589CFHR5c.590C>A (p.Pro197Gln)
n.914C>A
c.-24-38C>A (n.-24-38C>A)
c.845C>A (p.Pro282Gln)
c.854C>A (p.Pro285Gln)
1g.196996076C=CA1217885176CFHR5c.590C= (p.Pro197=)
n.914C=
c.-24-38C= (n.-24-38C=)
c.845C= (p.Pro282=)
c.854C= (p.Pro285=)
1g.196996076C>GCA344005591CFHR5c.590C>G (p.Pro197Arg)
n.914C>G
c.-24-38C>G (n.-24-38C>G)
c.845C>G (p.Pro282Arg)
c.854C>G (p.Pro285Arg)
1g.196996076C>TCA1307894CFHR5c.590C>T (p.Pro197Leu)
n.914C>T
c.-24-38C>T (n.-24-38C>T)
c.845C>T (p.Pro282Leu)
c.854C>T (p.Pro285Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996077G>ACA1307895CFHR5c.591G>A (p.Pro197=)
n.915G>A
c.-24-37G>A (n.-24-37G>A)
c.846G>A (p.Pro282=)
c.855G>A (p.Pro285=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996077G>CCA1307896CFHR5c.591G>C (p.Pro197=)
n.915G>C
c.-24-37G>C (n.-24-37G>C)
c.846G>C (p.Pro282=)
c.855G>C (p.Pro285=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996077G=CA1217885177CFHR5c.591G= (p.Pro197=)
n.915G=
c.-24-37G= (n.-24-37G=)
c.846G= (p.Pro282=)
c.855G= (p.Pro285=)
1g.196996077G>TCA422802866CFHR5c.591G>T (p.Pro197=)
n.915G>T
c.-24-37G>T (n.-24-37G>T)
c.846G>T (p.Pro282=)
c.855G>T (p.Pro285=)
 gnomAD v4
1g.196996078T>ACA344005598CFHR5c.592T>A (p.Ser198Thr)
n.916T>A
c.-24-36T>A (n.-24-36T>A)
c.847T>A (p.Ser283Thr)
c.856T>A (p.Ser286Thr)
1g.196996078T>CCA344005601CFHR5c.592T>C (p.Ser198Pro)
n.916T>C
c.-24-36T>C (n.-24-36T>C)
c.847T>C (p.Ser283Pro)
c.856T>C (p.Ser286Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.196996078T>GCA344005602CFHR5c.592T>G (p.Ser198Ala)
n.916T>G
c.-24-36T>G (n.-24-36T>G)
c.847T>G (p.Ser283Ala)
c.856T>G (p.Ser286Ala)
1g.196996078T=CA1217885178CFHR5c.592T= (p.Ser198=)
n.916T=
c.-24-36T= (n.-24-36T=)
c.847T= (p.Ser283=)
c.856T= (p.Ser286=)
1g.196996079C>ACA344005604CFHR5c.593C>A (p.Ser198Tyr)
n.917C>A
c.-24-35C>A (n.-24-35C>A)
c.848C>A (p.Ser283Tyr)
c.857C>A (p.Ser286Tyr)
1g.196996079C>GCA344005606CFHR5c.593C>G (p.Ser198Cys)
n.917C>G
c.-24-35C>G (n.-24-35C>G)
c.848C>G (p.Ser283Cys)
c.857C>G (p.Ser286Cys)
1g.196996079C>TCA344005608CFHR5c.593C>T (p.Ser198Phe)
n.917C>T
c.-24-35C>T (n.-24-35C>T)
c.848C>T (p.Ser283Phe)
c.857C>T (p.Ser286Phe)
1g.196996080T>ACA422802868CFHR5c.594T>A (p.Ser198=)
n.918T>A
c.-24-34T>A (n.-24-34T>A)
c.849T>A (p.Ser283=)
c.858T>A (p.Ser286=)
1g.196996080T>CCA1307897CFHR5c.594T>C (p.Ser198=)
n.918T>C
c.-24-34T>C (n.-24-34T>C)
c.849T>C (p.Ser283=)
c.858T>C (p.Ser286=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996080T>GCA422802869CFHR5c.594T>G (p.Ser198=)
n.918T>G
c.-24-34T>G (n.-24-34T>G)
c.849T>G (p.Ser283=)
c.858T>G (p.Ser286=)
1g.196996080T=CA1217885179CFHR5c.594T= (p.Ser198=)
n.918T=
c.-24-34T= (n.-24-34T=)
c.849T= (p.Ser283=)
c.858T= (p.Ser286=)
1g.196996081G>ACA344005610CFHR5c.595G>A (p.Val199Ile)
n.919G>A
c.-24-33G>A (n.-24-33G>A)
c.850G>A (p.Val284Ile)
c.859G>A (p.Val287Ile)
1g.196996081G>CCA344005612CFHR5c.595G>C (p.Val199Leu)
n.919G>C
c.-24-33G>C (n.-24-33G>C)
c.850G>C (p.Val284Leu)
c.859G>C (p.Val287Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196996081G=CA1217885180CFHR5c.595G= (p.Val199=)
n.919G=
c.-24-33G= (n.-24-33G=)
c.850G= (p.Val284=)
c.859G= (p.Val287=)
1g.196996081G>TCA344005614CFHR5c.595G>T (p.Val199Phe)
n.919G>T
c.-24-33G>T (n.-24-33G>T)
c.850G>T (p.Val284Phe)
c.859G>T (p.Val287Phe)
 gnomAD v4
1g.196996082T>ACA344005616CFHR5c.596T>A (p.Val199Asp)
n.920T>A
c.-24-32T>A (n.-24-32T>A)
c.851T>A (p.Val284Asp)
c.860T>A (p.Val287Asp)
1g.196996082T>CCA344005617CFHR5c.596T>C (p.Val199Ala)
n.920T>C
c.-24-32T>C (n.-24-32T>C)
c.851T>C (p.Val284Ala)
c.860T>C (p.Val287Ala)
 gnomAD v4
1g.196996082T>GCA344005620CFHR5c.596T>G (p.Val199Gly)
n.920T>G
c.-24-32T>G (n.-24-32T>G)
c.851T>G (p.Val284Gly)
c.860T>G (p.Val287Gly)
1g.196996083C>ACA422802871CFHR5c.597C>A (p.Val199=)
n.921C>A
c.-24-31C>A (n.-24-31C>A)
c.852C>A (p.Val284=)
c.861C>A (p.Val287=)
1g.196996083C=CA1217885181CFHR5c.597C= (p.Val199=)
n.921C=
c.-24-31C= (n.-24-31C=)
c.852C= (p.Val284=)
c.861C= (p.Val287=)
1g.196996083C>GCA422802872CFHR5c.597C>G (p.Val199=)
n.921C>G
c.-24-31C>G (n.-24-31C>G)
c.852C>G (p.Val284=)
c.861C>G (p.Val287=)
 dbSNP gnomAD v3 gnomAD v4
1g.196996083C>TCA422802873CFHR5c.597C>T (p.Val199=)
n.921C>T
c.-24-31C>T (n.-24-31C>T)
c.852C>T (p.Val284=)
c.861C>T (p.Val287=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196996084C>ACA344005623CFHR5c.598C>A (p.Pro200Thr)
n.922C>A
c.-24-30C>A (n.-24-30C>A)
c.853C>A (p.Pro285Thr)
c.862C>A (p.Pro288Thr)
1g.196996084C>GCA344005627CFHR5c.598C>G (p.Pro200Ala)
n.922C>G
c.-24-30C>G (n.-24-30C>G)
c.853C>G (p.Pro285Ala)
c.862C>G (p.Pro288Ala)
1g.196996084C>TCA344005624CFHR5c.598C>T (p.Pro200Ser)
n.922C>T
c.-24-30C>T (n.-24-30C>T)
c.853C>T (p.Pro285Ser)
c.862C>T (p.Pro288Ser)
1g.196996085C>ACA344005630CFHR5c.599C>A (p.Pro200His)
n.923C>A
c.-24-29C>A (n.-24-29C>A)
c.854C>A (p.Pro285His)
c.863C>A (p.Pro288His)
1g.196996085C>GCA344005633CFHR5c.599C>G (p.Pro200Arg)
n.923C>G
c.-24-29C>G (n.-24-29C>G)
c.854C>G (p.Pro285Arg)
c.863C>G (p.Pro288Arg)
1g.196996085C>TCA344005635CFHR5c.599C>T (p.Pro200Leu)
n.923C>T
c.-24-29C>T (n.-24-29C>T)
c.854C>T (p.Pro285Leu)
c.863C>T (p.Pro288Leu)
 gnomAD v4
1g.196996086T>ACA422802876CFHR5c.600T>A (p.Pro200=)
n.924T>A
c.-24-28T>A (n.-24-28T>A)
c.855T>A (p.Pro285=)
c.864T>A (p.Pro288=)
1g.196996086T>CCA422802878CFHR5c.600T>C (p.Pro200=)
n.924T>C
c.-24-28T>C (n.-24-28T>C)
c.855T>C (p.Pro285=)
c.864T>C (p.Pro288=)
1g.196996086T>GCA422802877CFHR5c.600T>G (p.Pro200=)
n.924T>G
c.-24-28T>G (n.-24-28T>G)
c.855T>G (p.Pro285=)
c.864T>G (p.Pro288=)
1g.196996088_196996089insAACATGTTGTCCCA2649656662CFHR5c.602_603insAACATGTTGTCC (p.Pro201_Tyr202insThrCysCysPro)
n.926_927insAACATGTTGTCC
c.-24-26_-24-25insAACATGTTGTCC (n.-24-26_-24-25insAACATGTTGTCC)
c.857_858insAACATGTTGTCC (p.Pro286_Tyr287insThrCysCysPro)
c.866_867insAACATGTTGTCC (p.Pro289_Tyr290insThrCysCysPro)
 gnomAD v4
1g.196996087C>ACA344005637CFHR5c.601C>A (p.Pro201Thr)
n.925C>A
c.-24-27C>A (n.-24-27C>A)
c.856C>A (p.Pro286Thr)
c.865C>A (p.Pro289Thr)
1g.196996087C>GCA344005642CFHR5c.601C>G (p.Pro201Ala)
n.925C>G
c.-24-27C>G (n.-24-27C>G)
c.856C>G (p.Pro286Ala)
c.865C>G (p.Pro289Ala)
1g.196996087C>TCA344005644CFHR5c.601C>T (p.Pro201Ser)
n.925C>T
c.-24-27C>T (n.-24-27C>T)
c.856C>T (p.Pro286Ser)
c.865C>T (p.Pro289Ser)
1g.196996088C>ACA344005646CFHR5c.602C>A (p.Pro201His)
n.926C>A
c.-24-26C>A (n.-24-26C>A)
c.857C>A (p.Pro286His)
c.866C>A (p.Pro289His)
1g.196996088C=CA1217885182CFHR5c.602C= (p.Pro201=)
n.926C=
c.-24-26C= (n.-24-26C=)
c.857C= (p.Pro286=)
c.866C= (p.Pro289=)
1g.196996088C>GCA344005649CFHR5c.602C>G (p.Pro201Arg)
n.926C>G
c.-24-26C>G (n.-24-26C>G)
c.857C>G (p.Pro286Arg)
c.866C>G (p.Pro289Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.196996088C>TCA344005651CFHR5c.602C>T (p.Pro201Leu)
n.926C>T
c.-24-26C>T (n.-24-26C>T)
c.857C>T (p.Pro286Leu)
c.866C>T (p.Pro289Leu)
 dbSNP COSMIC COSMIC
1g.196996089C>ACA422802880CFHR5c.603C>A (p.Pro201=)
n.927C>A
c.-24-25C>A (n.-24-25C>A)
c.858C>A (p.Pro286=)
c.867C>A (p.Pro289=)
1g.196996089C=CA1217885183CFHR5c.603C= (p.Pro201=)
n.927C=
c.-24-25C= (n.-24-25C=)
c.858C= (p.Pro286=)
c.867C= (p.Pro289=)
1g.196996089C>GCA422802881CFHR5c.603C>G (p.Pro201=)
n.927C>G
c.-24-25C>G (n.-24-25C>G)
c.858C>G (p.Pro286=)
c.867C>G (p.Pro289=)
1g.196996089C>TCA422802882CFHR5c.603C>T (p.Pro201=)
n.927C>T
c.-24-25C>T (n.-24-25C>T)
c.858C>T (p.Pro286=)
c.867C>T (p.Pro289=)
 dbSNP gnomAD v2 gnomAD v4
1g.196996090T>ACA344005652CFHR5c.604T>A (p.Tyr202Asn)
n.928T>A
c.-24-24T>A (n.-24-24T>A)
c.859T>A (p.Tyr287Asn)
c.868T>A (p.Tyr290Asn)
1g.196996090T>CCA344005653CFHR5c.604T>C (p.Tyr202His)
n.928T>C
c.-24-24T>C (n.-24-24T>C)
c.859T>C (p.Tyr287His)
c.868T>C (p.Tyr290His)
 gnomAD v4
1g.196996090T>GCA344005655CFHR5c.604T>G (p.Tyr202Asp)
n.928T>G
c.-24-24T>G (n.-24-24T>G)
c.859T>G (p.Tyr287Asp)
c.868T>G (p.Tyr290Asp)
1g.196996091A>CCA344005662CFHR5c.605A>C (p.Tyr202Ser)
n.929A>C
c.-24-23A>C (n.-24-23A>C)
c.860A>C (p.Tyr287Ser)
c.869A>C (p.Tyr290Ser)
1g.196996091A>GCA344005660CFHR5c.605A>G (p.Tyr202Cys)
n.929A>G
c.-24-23A>G (n.-24-23A>G)
c.860A>G (p.Tyr287Cys)
c.869A>G (p.Tyr290Cys)
1g.196996091A>TCA344005661CFHR5c.605A>T (p.Tyr202Phe)
n.929A>T
c.-24-23A>T (n.-24-23A>T)
c.860A>T (p.Tyr287Phe)
c.869A>T (p.Tyr290Phe)
1g.196996092T>ACA344005665CFHR5c.606T>A (p.Tyr202Ter)
n.930T>A
c.-24-22T>A (n.-24-22T>A)
c.861T>A (p.Tyr287Ter)
c.870T>A (p.Tyr290Ter)
1g.196996092T>CCA1307898CFHR5c.606T>C (p.Tyr202=)
n.930T>C
c.-24-22T>C (n.-24-22T>C)
c.861T>C (p.Tyr287=)
c.870T>C (p.Tyr290=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996092T>GCA344005669CFHR5c.606T>G (p.Tyr202Ter)
n.930T>G
c.-24-22T>G (n.-24-22T>G)
c.861T>G (p.Tyr287Ter)
c.870T>G (p.Tyr290Ter)
 gnomAD v4 COSMIC COSMIC
1g.196996092T=CA1217885184CFHR5c.606T= (p.Tyr202=)
n.930T=
c.-24-22T= (n.-24-22T=)
c.861T= (p.Tyr287=)
c.870T= (p.Tyr290=)
1g.196996093C>ACA344005672CFHR5c.607C>A (p.Gln203Lys)
n.931C>A
c.-24-21C>A (n.-24-21C>A)
c.862C>A (p.Gln288Lys)
c.871C>A (p.Gln291Lys)
1g.196996093C=CA1217885185CFHR5c.607C= (p.Gln203=)
n.931C=
c.-24-21C= (n.-24-21C=)
c.862C= (p.Gln288=)
c.871C= (p.Gln291=)
1g.196996093C>GCA344005683CFHR5c.607C>G (p.Gln203Glu)
n.931C>G
c.-24-21C>G (n.-24-21C>G)
c.862C>G (p.Gln288Glu)
c.871C>G (p.Gln291Glu)
 dbSNP
1g.196996093C>TCA344005687CFHR5c.607C>T (p.Gln203Ter)
n.931C>T
c.-24-21C>T (n.-24-21C>T)
c.862C>T (p.Gln288Ter)
c.871C>T (p.Gln291Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.196996094A>CCA344005700CFHR5c.608A>C (p.Gln203Pro)
n.932A>C
c.-24-20A>C (n.-24-20A>C)
c.863A>C (p.Gln288Pro)
c.872A>C (p.Gln291Pro)
1g.196996094A>GCA344005702CFHR5c.608A>G (p.Gln203Arg)
n.932A>G
c.-24-20A>G (n.-24-20A>G)
c.863A>G (p.Gln288Arg)
c.872A>G (p.Gln291Arg)
1g.196996094A>TCA344005703CFHR5c.608A>T (p.Gln203Leu)
n.932A>T
c.-24-20A>T (n.-24-20A>T)
c.863A>T (p.Gln288Leu)
c.872A>T (p.Gln291Leu)
1g.196996095A=CA1217885186CFHR5c.609A= (p.Gln203=)
n.933A=
c.-24-19A= (n.-24-19A=)
c.864A= (p.Gln288=)
c.873A= (p.Gln291=)
1g.196996095A>CCA344005707CFHR5c.609A>C (p.Gln203His)
n.933A>C
c.-24-19A>C (n.-24-19A>C)
c.864A>C (p.Gln288His)
c.873A>C (p.Gln291His)
1g.196996095A>GCA422802889CFHR5c.609A>G (p.Gln203=)
n.933A>G
c.-24-19A>G (n.-24-19A>G)
c.864A>G (p.Gln288=)
c.873A>G (p.Gln291=)
 dbSNP
1g.196996095A>TCA344005709CFHR5c.609A>T (p.Gln203His)
n.933A>T
c.-24-19A>T (n.-24-19A>T)
c.864A>T (p.Gln288His)
c.873A>T (p.Gln291His)
1g.196996096C>ACA344005715CFHR5c.610C>A (p.His204Asn)
n.934C>A
c.-24-18C>A (n.-24-18C>A)
c.865C>A (p.His289Asn)
c.874C>A (p.His292Asn)
1g.196996096C=CA1217885187CFHR5c.610C= (p.His204=)
n.934C=
c.-24-18C= (n.-24-18C=)
c.865C= (p.His289=)
c.874C= (p.His292=)
1g.196996096C>GCA1307899CFHR5c.610C>G (p.His204Asp)
n.934C>G
c.-24-18C>G (n.-24-18C>G)
c.865C>G (p.His289Asp)
c.874C>G (p.His292Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996096C>TCA344005713CFHR5c.610C>T (p.His204Tyr)
n.934C>T
c.-24-18C>T (n.-24-18C>T)
c.865C>T (p.His289Tyr)
c.874C>T (p.His292Tyr)
 dbSNP
1g.196996097A=CA1148397617CFHR5c.611A= (p.His204=)
n.935A=
c.-24-17A= (n.-24-17A=)
c.866A= (p.His289=)
c.875A= (p.His292=)
1g.196996097A>CCA344005724CFHR5c.611A>C (p.His204Pro)
n.935A>C
c.-24-17A>C (n.-24-17A>C)
c.866A>C (p.His289Pro)
c.875A>C (p.His292Pro)
1g.196996097A>GCA1307900CFHR5c.611A>G (p.His204Arg)
n.935A>G
c.-24-17A>G (n.-24-17A>G)
c.866A>G (p.His289Arg)
c.875A>G (p.His292Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996097A>TCA344005722CFHR5c.611A>T (p.His204Leu)
n.935A>T
c.-24-17A>T (n.-24-17A>T)
c.866A>T (p.His289Leu)
c.875A>T (p.His292Leu)
1g.196996098T>ACA344005728CFHR5c.612T>A (p.His204Gln)
n.936T>A
c.-24-16T>A (n.-24-16T>A)
c.867T>A (p.His289Gln)
c.876T>A (p.His292Gln)
1g.196996098T>CCA422668240CFHR5c.612T>C (p.His204=)
n.936T>C
c.-24-16T>C (n.-24-16T>C)
c.867T>C (p.His289=)
c.876T>C (p.His292=)
1g.196996098T>GCA344005729CFHR5c.612T>G (p.His204Gln)
n.936T>G
c.-24-16T>G (n.-24-16T>G)
c.867T>G (p.His289Gln)
c.876T>G (p.His292Gln)
1g.196996099G>ACA344005730CFHR5c.613G>A (p.Gly205Arg)
n.937G>A
c.-24-15G>A (n.-24-15G>A)
c.868G>A (p.Gly290Arg)
c.877G>A (p.Gly293Arg)
1g.196996099G>CCA35878620CFHR5c.613G>C (p.Gly205Arg)
n.937G>C
c.-24-15G>C (n.-24-15G>C)
c.868G>C (p.Gly290Arg)
c.877G>C (p.Gly293Arg)
 dbSNP gnomAD v4
1g.196996099G=CA1217885188CFHR5c.613G= (p.Gly205=)
n.937G=
c.-24-15G= (n.-24-15G=)
c.868G= (p.Gly290=)
c.877G= (p.Gly293=)
1g.196996099G>TCA344005731CFHR5c.613G>T (p.Gly205Ter)
n.937G>T
c.-24-15G>T (n.-24-15G>T)
c.868G>T (p.Gly290Ter)
c.877G>T (p.Gly293Ter)
1g.196996100G>ACA344005732CFHR5c.614G>A (p.Gly205Glu)
n.938G>A
c.-24-14G>A (n.-24-14G>A)
c.869G>A (p.Gly290Glu)
c.878G>A (p.Gly293Glu)
 gnomAD v4 COSMIC COSMIC
1g.196996100G>CCA344005733CFHR5c.614G>C (p.Gly205Ala)
n.938G>C
c.-24-14G>C (n.-24-14G>C)
c.869G>C (p.Gly290Ala)
c.878G>C (p.Gly293Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.196996100G=CA1217885189CFHR5c.614G= (p.Gly205=)
n.938G=
c.-24-14G= (n.-24-14G=)
c.869G= (p.Gly290=)
c.878G= (p.Gly293=)
1g.196996100G>TCA344005734CFHR5c.614G>T (p.Gly205Val)
n.938G>T
c.-24-14G>T (n.-24-14G>T)
c.869G>T (p.Gly290Val)
c.878G>T (p.Gly293Val)
1g.196996101A>CCA422668241CFHR5c.615A>C (p.Gly205=)
n.939A>C
c.-24-13A>C (n.-24-13A>C)
c.870A>C (p.Gly290=)
c.879A>C (p.Gly293=)
 gnomAD v4
1g.196996101A>GCA422668243CFHR5c.615A>G (p.Gly205=)
n.939A>G
c.-24-13A>G (n.-24-13A>G)
c.870A>G (p.Gly290=)
c.879A>G (p.Gly293=)
1g.196996101A>TCA422668244CFHR5c.615A>T (p.Gly205=)
n.939A>T
c.-24-13A>T (n.-24-13A>T)
c.870A>T (p.Gly290=)
c.879A>T (p.Gly293=)
1g.196996102G>ACA344005735CFHR5c.616G>A (p.Val206Ile)
n.940G>A
c.-24-12G>A (n.-24-12G>A)
c.871G>A (p.Val291Ile)
c.880G>A (p.Val294Ile)
 COSMIC COSMIC
1g.196996102G>CCA344005736CFHR5c.616G>C (p.Val206Leu)
n.940G>C
c.-24-12G>C (n.-24-12G>C)
c.871G>C (p.Val291Leu)
c.880G>C (p.Val294Leu)
1g.196996102G>TCA344005738CFHR5c.616G>T (p.Val206Phe)
n.940G>T
c.-24-12G>T (n.-24-12G>T)
c.871G>T (p.Val291Phe)
c.880G>T (p.Val294Phe)
 COSMIC COSMIC
1g.196996103T>ACA344005743CFHR5c.617T>A (p.Val206Asp)
n.941T>A
c.-24-11T>A (n.-24-11T>A)
c.872T>A (p.Val291Asp)
c.881T>A (p.Val294Asp)
1g.196996103T>CCA344005739CFHR5c.617T>C (p.Val206Ala)
n.941T>C
c.-24-11T>C (n.-24-11T>C)
c.872T>C (p.Val291Ala)
c.881T>C (p.Val294Ala)
1g.196996103T>GCA344005742CFHR5c.617T>G (p.Val206Gly)
n.941T>G
c.-24-11T>G (n.-24-11T>G)
c.872T>G (p.Val291Gly)
c.881T>G (p.Val294Gly)
1g.196996104T>ACA422668247CFHR5c.618T>A (p.Val206=)
n.942T>A
c.-24-10T>A (n.-24-10T>A)
c.873T>A (p.Val291=)
c.882T>A (p.Val294=)
1g.196996104T>CCA422668248CFHR5c.618T>C (p.Val206=)
n.942T>C
c.-24-10T>C (n.-24-10T>C)
c.873T>C (p.Val291=)
c.882T>C (p.Val294=)
1g.196996104T>GCA422668250CFHR5c.618T>G (p.Val206=)
n.942T>G
c.-24-10T>G (n.-24-10T>G)
c.873T>G (p.Val291=)
c.882T>G (p.Val294=)
1g.196996105T>ACA344005745CFHR5c.619T>A (p.Ser207Thr)
n.943T>A
c.-24-9T>A (n.-24-9T>A)
c.874T>A (p.Ser292Thr)
c.883T>A (p.Ser295Thr)
 COSMIC COSMIC
1g.196996105T>CCA344005746CFHR5c.619T>C (p.Ser207Pro)
n.943T>C
c.-24-9T>C (n.-24-9T>C)
c.874T>C (p.Ser292Pro)
c.883T>C (p.Ser295Pro)
1g.196996105T>GCA344005747CFHR5c.619T>G (p.Ser207Ala)
n.943T>G
c.-24-9T>G (n.-24-9T>G)
c.874T>G (p.Ser292Ala)
c.883T>G (p.Ser295Ala)
1g.196996106C>ACA344005748CFHR5c.620C>A (p.Ser207Ter)
n.944C>A
c.-24-8C>A (n.-24-8C>A)
c.875C>A (p.Ser292Ter)
c.884C>A (p.Ser295Ter)
1g.196996106C>GCA344005749CFHR5c.620C>G (p.Ser207Ter)
n.944C>G
c.-24-8C>G (n.-24-8C>G)
c.875C>G (p.Ser292Ter)
c.884C>G (p.Ser295Ter)
1g.196996106C>TCA344005750CFHR5c.620C>T (p.Ser207Leu)
n.944C>T
c.-24-8C>T (n.-24-8C>T)
c.875C>T (p.Ser292Leu)
c.884C>T (p.Ser295Leu)
 gnomAD v4
1g.196996107A=CA1217885190CFHR5c.621A= (p.Ser207=)
n.945A=
c.-24-7A= (n.-24-7A=)
c.876A= (p.Ser292=)
c.885A= (p.Ser295=)
1g.196996107A>CCA422668254CFHR5c.621A>C (p.Ser207=)
n.945A>C
c.-24-7A>C (n.-24-7A>C)
c.876A>C (p.Ser292=)
c.885A>C (p.Ser295=)
1g.196996107A>GCA1307901CFHR5c.621A>G (p.Ser207=)
n.945A>G
c.-24-7A>G (n.-24-7A>G)
c.876A>G (p.Ser292=)
c.885A>G (p.Ser295=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996107A>TCA422668251CFHR5c.621A>T (p.Ser207=)
n.945A>T
c.-24-7A>T (n.-24-7A>T)
c.876A>T (p.Ser292=)
c.885A>T (p.Ser295=)
1g.196996108G>ACA344005752CFHR5c.622G>A (p.Val208Ile)
n.946G>A
c.-24-6G>A (n.-24-6G>A)
c.877G>A (p.Val293Ile)
c.886G>A (p.Val296Ile)
1g.196996108G>CCA344005753CFHR5c.622G>C (p.Val208Leu)
n.946G>C
c.-24-6G>C (n.-24-6G>C)
c.877G>C (p.Val293Leu)
c.886G>C (p.Val296Leu)
1g.196996108G>TCA344005756CFHR5c.622G>T (p.Val208Phe)
n.946G>T
c.-24-6G>T (n.-24-6G>T)
c.877G>T (p.Val293Phe)
c.886G>T (p.Val296Phe)
1g.196996109T>ACA344005759CFHR5c.623T>A (p.Val208Asp)
n.947T>A
c.-24-5T>A (n.-24-5T>A)
c.878T>A (p.Val293Asp)
c.887T>A (p.Val296Asp)
1g.196996109T>CCA344005761CFHR5c.623T>C (p.Val208Ala)
n.947T>C
c.-24-5T>C (n.-24-5T>C)
c.878T>C (p.Val293Ala)
c.887T>C (p.Val296Ala)
1g.196996109T>GCA344005768CFHR5c.623T>G (p.Val208Gly)
n.947T>G
c.-24-5T>G (n.-24-5T>G)
c.878T>G (p.Val293Gly)
c.887T>G (p.Val296Gly)
1g.196996110C>ACA422668258CFHR5c.624C>A (p.Val208=)
n.948C>A
c.-24-4C>A (n.-24-4C>A)
c.879C>A (p.Val293=)
c.888C>A (p.Val296=)
 gnomAD v4 COSMIC COSMIC
1g.196996110C=CA1144050179CFHR5c.624C= (p.Val208=)
n.948C=
c.-24-4C= (n.-24-4C=)
c.879C= (p.Val293=)
c.888C= (p.Val296=)
1g.196996110C>GCA422668259CFHR5c.624C>G (p.Val208=)
n.948C>G
c.-24-4C>G (n.-24-4C>G)
c.879C>G (p.Val293=)
c.888C>G (p.Val296=)
1g.196996110C>TCA1307902CFHR5c.624C>T (p.Val208=)
n.948C>T
c.-24-4C>T (n.-24-4C>T)
c.879C>T (p.Val293=)
c.888C>T (p.Val296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996111G>ACA1307903CFHR5c.625G>A (p.Glu209Lys)
n.949G>A
c.-24-3G>A (n.-24-3G>A)
c.880G>A (p.Glu294Lys)
c.889G>A (p.Glu297Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996111G>CCA344005772CFHR5c.625G>C (p.Glu209Gln)
n.949G>C
c.-24-3G>C (n.-24-3G>C)
c.880G>C (p.Glu294Gln)
c.889G>C (p.Glu297Gln)
 gnomAD v4
1g.196996111G=CA1143459807CFHR5c.625G= (p.Glu209=)
n.949G=
c.-24-3G= (n.-24-3G=)
c.880G= (p.Glu294=)
c.889G= (p.Glu297=)
1g.196996111G>TCA1307904CFHR5c.625G>T (p.Glu209Ter)
n.949G>T
c.-24-3G>T (n.-24-3G>T)
c.880G>T (p.Glu294Ter)
c.889G>T (p.Glu297Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996112A>CCA344005773CFHR5c.626A>C (p.Glu209Ala)
n.950A>C
c.-24-2A>C (n.-24-2A>C)
c.881A>C (p.Glu294Ala)
c.890A>C (p.Glu297Ala)
1g.196996112A>GCA344005774CFHR5c.626A>G (p.Glu209Gly)
n.950A>G
c.-24-2A>G (n.-24-2A>G)
c.881A>G (p.Glu294Gly)
c.890A>G (p.Glu297Gly)
1g.196996112A>TCA344005776CFHR5c.626A>T (p.Glu209Val)
n.950A>T
c.-24-2A>T (n.-24-2A>T)
c.881A>T (p.Glu294Val)
c.890A>T (p.Glu297Val)
1g.196996113G>ACA422668263CFHR5c.627G>A (p.Glu209=)
n.951G>A
c.-24-1G>A (n.-24-1G>A)
c.882G>A (p.Glu294=)
c.891G>A (p.Glu297=)
1g.196996113G>CCA344005778CFHR5c.627G>C (p.Glu209Asp)
n.951G>C
c.-24-1G>C (n.-24-1G>C)
c.882G>C (p.Glu294Asp)
c.891G>C (p.Glu297Asp)
1g.196996113G>TCA344005780CFHR5c.627G>T (p.Glu209Asp)
n.951G>T
c.-24-1G>T (n.-24-1G>T)
c.882G>T (p.Glu294Asp)
c.891G>T (p.Glu297Asp)
1g.196996114G>ACA1307905CFHR5c.628G>A (p.Val210Met)
n.952G>A
c.-24G>A (n.-24G>A)
c.883G>A (p.Val295Met)
c.892G>A (p.Val298Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196996114G>CCA344005785CFHR5c.628G>C (p.Val210Leu)
n.952G>C
c.-24G>C (n.-24G>C)
c.883G>C (p.Val295Leu)
c.892G>C (p.Val298Leu)
1g.196996114G=CA1217885191CFHR5c.628G= (p.Val210=)
n.952G=
c.-24G= (n.-24G=)
c.883G= (p.Val295=)
c.892G= (p.Val298=)
1g.196996114G>TCA344005802CFHR5c.628G>T (p.Val210Leu)
n.952G>T
c.-24G>T (n.-24G>T)
c.883G>T (p.Val295Leu)
c.892G>T (p.Val298Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.196996115T>ACA1307906CFHR5c.629T>A (p.Val210Glu)
n.953T>A
c.-23T>A (n.-23T>A)
c.884T>A (p.Val295Glu)
c.893T>A (p.Val298Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996115T>CCA344005805CFHR5c.629T>C (p.Val210Ala)
n.953T>C
c.-23T>C (n.-23T>C)
c.884T>C (p.Val295Ala)
c.893T>C (p.Val298Ala)
1g.196996115T>GCA344005809CFHR5c.629T>G (p.Val210Gly)
n.953T>G
c.-23T>G (n.-23T>G)
c.884T>G (p.Val295Gly)
c.893T>G (p.Val298Gly)
1g.196996115T=CA1217885192CFHR5c.629T= (p.Val210=)
n.953T=
c.-23T= (n.-23T=)
c.884T= (p.Val295=)
c.893T= (p.Val298=)
1g.196996116G>ACA422668264CFHR5c.630G>A (p.Val210=)
n.954G>A
c.-22G>A (n.-22G>A)
c.885G>A (p.Val295=)
c.894G>A (p.Val298=)
1g.196996116G>CCA422668265CFHR5c.630G>C (p.Val210=)
n.954G>C
c.-22G>C (n.-22G>C)
c.885G>C (p.Val295=)
c.894G>C (p.Val298=)
1g.196996116G>TCA422668266CFHR5c.630G>T (p.Val210=)
n.954G>T
c.-22G>T (n.-22G>T)
c.885G>T (p.Val295=)
c.894G>T (p.Val298=)
1g.196996117A>CCA344005816CFHR5c.631A>C (p.Asn211His)
n.955A>C
c.-21A>C (n.-21A>C)
c.886A>C (p.Asn296His)
c.895A>C (p.Asn299His)
1g.196996117A>GCA344005814CFHR5c.631A>G (p.Asn211Asp)
n.955A>G
c.-21A>G (n.-21A>G)
c.886A>G (p.Asn296Asp)
c.895A>G (p.Asn299Asp)
1g.196996117A>TCA344005815CFHR5c.631A>T (p.Asn211Tyr)
n.955A>T
c.-21A>T (n.-21A>T)
c.886A>T (p.Asn296Tyr)
c.895A>T (p.Asn299Tyr)
1g.196996118A>CCA344005820CFHR5c.632A>C (p.Asn211Thr)
n.956A>C
c.-20A>C (n.-20A>C)
c.887A>C (p.Asn296Thr)
c.896A>C (p.Asn299Thr)
1g.196996118A>GCA344005822CFHR5c.632A>G (p.Asn211Ser)
n.956A>G
c.-20A>G (n.-20A>G)
c.887A>G (p.Asn296Ser)
c.896A>G (p.Asn299Ser)
1g.196996118A>TCA344005824CFHR5c.632A>T (p.Asn211Ile)
n.956A>T
c.-20A>T (n.-20A>T)
c.887A>T (p.Asn296Ile)
c.896A>T (p.Asn299Ile)
 COSMIC COSMIC
1g.196996119T>ACA344005826CFHR5c.633T>A (p.Asn211Lys)
n.957T>A
c.-19T>A (n.-19T>A)
c.888T>A (p.Asn296Lys)
c.897T>A (p.Asn299Lys)
1g.196996119T>CCA422668269CFHR5c.633T>C (p.Asn211=)
n.957T>C
c.-19T>C (n.-19T>C)
c.888T>C (p.Asn296=)
c.897T>C (p.Asn299=)
 dbSNP
1g.196996119T>GCA344005829CFHR5c.633T>G (p.Asn211Lys)
n.957T>G
c.-19T>G (n.-19T>G)
c.888T>G (p.Asn296Lys)
c.897T>G (p.Asn299Lys)
1g.196996120T>ACA344005832CFHR5c.634T>A (p.Cys212Ser)
n.958T>A
c.-18T>A (n.-18T>A)
c.889T>A (p.Cys297Ser)
c.898T>A (p.Cys300Ser)
1g.196996120T>CCA344005834CFHR5c.634T>C (p.Cys212Arg)
n.958T>C
c.-18T>C (n.-18T>C)
c.889T>C (p.Cys297Arg)
c.898T>C (p.Cys300Arg)
1g.196996120T>GCA344005837CFHR5c.634T>G (p.Cys212Gly)
n.958T>G
c.-18T>G (n.-18T>G)
c.889T>G (p.Cys297Gly)
c.898T>G (p.Cys300Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.196996120T=CA1217885193CFHR5c.634T= (p.Cys212=)
n.958T=
c.-18T= (n.-18T=)
c.889T= (p.Cys297=)
c.898T= (p.Cys300=)
1g.196996121G>ACA344005841CFHR5c.635G>A (p.Cys212Tyr)
n.959G>A
c.-17G>A (n.-17G>A)
c.890G>A (p.Cys297Tyr)
c.899G>A (p.Cys300Tyr)
1g.196996121G>CCA344005843CFHR5c.635G>C (p.Cys212Ser)
n.959G>C
c.-17G>C (n.-17G>C)
c.890G>C (p.Cys297Ser)
c.899G>C (p.Cys300Ser)
 gnomAD v4
1g.196996121G>TCA344005856CFHR5c.635G>T (p.Cys212Phe)
n.959G>T
c.-17G>T (n.-17G>T)
c.890G>T (p.Cys297Phe)
c.899G>T (p.Cys300Phe)
1g.196996122C>ACA344005859CFHR5c.636C>A (p.Cys212Ter)
n.960C>A
c.-16C>A (n.-16C>A)
c.891C>A (p.Cys297Ter)
c.900C>A (p.Cys300Ter)
1g.196996122C>GCA344005861CFHR5c.636C>G (p.Cys212Trp)
n.960C>G
c.-16C>G (n.-16C>G)
c.891C>G (p.Cys297Trp)
c.900C>G (p.Cys300Trp)
1g.196996122C>TCA422668270CFHR5c.636C>T (p.Cys212=)
n.960C>T
c.-16C>T (n.-16C>T)
c.891C>T (p.Cys297=)
c.900C>T (p.Cys300=)
1g.196996123A=CA1217885194CFHR5c.637A= (p.Arg213=)
n.961A=
c.-15A= (n.-15A=)
c.892A= (p.Arg298=)
c.901A= (p.Arg301=)
1g.196996123A>CCA422668271CFHR5c.637A>C (p.Arg213=)
n.961A>C
c.-15A>C (n.-15A>C)
c.892A>C (p.Arg298=)
c.901A>C (p.Arg301=)
1g.196996123A>GCA1307907CFHR5c.637A>G (p.Arg213Gly)
n.961A>G
c.-15A>G (n.-15A>G)
c.892A>G (p.Arg298Gly)
c.901A>G (p.Arg301Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196996123A>TCA344005869CFHR5c.637A>T (p.Arg213Ter)
n.961A>T
c.-15A>T (n.-15A>T)
c.892A>T (p.Arg298Ter)
c.901A>T (p.Arg301Ter)

Number of alleles fetched