Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.196996034C>A | CA344005375 | CFHR5 | c.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) | |
1 | g.196996034C>G | CA344005377 | CFHR5 | c.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) | |
1 | g.196996034C>T | CA344005378 | CFHR5 | c.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 |
1 | g.196996034_196996036delinsCAT | CA1217885157 | CFHR5 | c.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=) | |
1 | g.196996035A= | CA1144109542 | CFHR5 | c.549A= (p.Thr183=) n.873A= c.-24-79A= (n.-24-79A=) c.804A= (p.Thr268=) c.813A= (p.Thr271=) | |
1 | g.196996035A>C | CA422802820 | CFHR5 | c.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=) | |
1 | g.196996035A>G | CA422802818 | CFHR5 | c.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=) | |
1 | g.196996035A>T | CA1307881 | CFHR5 | c.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 |
1 | g.196996035_196996036del | CA35878547 | CFHR5 | c.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 |
1 | g.196996035_196996036delinsAT | CA1141262417 | CFHR5 | c.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=) | |
1 | g.196996036T>A | CA344005382 | CFHR5 | c.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) | |
1 | g.196996036T>C | CA1307882 | CFHR5 | c.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 |
1 | g.196996036T>G | CA344005389 | CFHR5 | c.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) | |
1 | g.196996036T= | CA1217885158 | CFHR5 | c.550T= (p.Cys184=) n.874T= c.-24-78T= (n.-24-78T=) c.805T= (p.Cys269=) c.814T= (p.Cys272=) | |
1 | g.196996037G>A | CA1307883 | CFHR5 | c.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 |
1 | g.196996037G>C | CA344005397 | CFHR5 | c.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) | |
1 | g.196996037G= | CA1148459257 | CFHR5 | c.551G= (p.Cys184=) n.875G= c.-24-77G= (n.-24-77G=) c.806G= (p.Cys269=) c.815G= (p.Cys272=) | |
1 | g.196996037G>T | CA344005400 | CFHR5 | c.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) | |
1 | g.196996038T>A | CA344005402 | CFHR5 | c.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) | |
1 | g.196996038T>C | CA422802822 | CFHR5 | c.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=) | |
1 | g.196996038T>G | CA344005404 | CFHR5 | c.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) | |
1 | g.196996039G>A | CA35878560 | CFHR5 | c.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 |
1 | g.196996039G>C | CA344005405 | CFHR5 | c.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) | |
1 | g.196996039G= | CA1217885159 | CFHR5 | c.553G= (p.Gly185=) n.877G= c.-24-75G= (n.-24-75G=) c.808G= (p.Gly270=) c.817G= (p.Gly273=) | |
1 | g.196996039G>T | CA344005406 | CFHR5 | c.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 |
1 | g.196996040G>A | CA1307884 | CFHR5 | c.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 |
1 | g.196996040G>C | CA344005408 | CFHR5 | c.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 |
1 | g.196996040G= | CA1217885160 | CFHR5 | c.554G= (p.Gly185=) n.878G= c.-24-74G= (n.-24-74G=) c.809G= (p.Gly270=) c.818G= (p.Gly273=) | |
1 | g.196996040G>T | CA344005410 | CFHR5 | c.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 |
1 | g.196996041A= | CA1217885161 | CFHR5 | c.555A= (p.Gly185=) n.879A= c.-24-73A= (n.-24-73A=) c.810A= (p.Gly270=) c.819A= (p.Gly273=) | |
1 | g.196996041A>C | CA422802824 | CFHR5 | c.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=) | |
1 | g.196996041A>G | CA422802825 | CFHR5 | c.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=) | |
1 | g.196996041A>T | CA422802826 | CFHR5 | c.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=) | |
1 | g.196996042T>A | CA344005412 | CFHR5 | c.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) | |
1 | g.196996042T>C | CA344005413 | CFHR5 | c.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) | |
1 | g.196996042T>G | CA344005414 | CFHR5 | c.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) | |
1 | g.196996042_196996043insTT | CA1217885162 | CFHR5 | c.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 |
1 | g.196996043A= | CA1217885163 | CFHR5 | c.557A= (p.Tyr186=) n.881A= c.-24-71A= (n.-24-71A=) c.812A= (p.Tyr271=) c.821A= (p.Tyr274=) | |
1 | g.196996043A>C | CA344005416 | CFHR5 | c.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) | |
1 | g.196996043A>G | CA344005418 | CFHR5 | c.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 |
1 | g.196996043A>T | CA344005421 | CFHR5 | c.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) | |
1 | g.196996044C>A | CA344005423 | CFHR5 | c.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 |
1 | g.196996044C>G | CA344005424 | CFHR5 | c.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) | |
1 | g.196996044C>T | CA422802829 | CFHR5 | c.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=) | |
1 | g.196996045A>C | CA344005426 | CFHR5 | c.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) | |
1 | g.196996045A>G | CA344005429 | CFHR5 | c.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) | |
1 | g.196996045A>T | CA344005427 | CFHR5 | c.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) | |
1 | g.196996046T>A | CA344005432 | CFHR5 | c.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) | |
1 | g.196996046T>C | CA344005434 | CFHR5 | c.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) | |
1 | g.196996046T>G | CA344005436 | CFHR5 | c.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) | |
1 | g.196996046T= | CA1217885164 | CFHR5 | c.560T= (p.Ile187=) n.884T= c.-24-68T= (n.-24-68T=) c.815T= (p.Ile272=) c.824T= (p.Ile275=) | |
1 | g.196996047A>C | CA422802832 | CFHR5 | c.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=) | |
1 | g.196996047A>G | CA344005438 | CFHR5 | c.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) | |
1 | g.196996047A>T | CA422802834 | CFHR5 | c.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=) | |
1 | g.196996047_196996048dup | CA1010880314 | CFHR5 | c.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 |
1 | g.196996048C>A | CA1307885 | CFHR5 | c.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 |
1 | g.196996048C= | CA1217885165 | CFHR5 | c.562C= (p.Pro188=) n.886C= c.-24-66C= (n.-24-66C=) c.817C= (p.Pro273=) c.826C= (p.Pro276=) | |
1 | g.196996048C>G | CA344005443 | CFHR5 | c.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) | |
1 | g.196996048C>T | CA344005444 | CFHR5 | c.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) | |
1 | g.196996049C>A | CA344005447 | CFHR5 | c.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) | |
1 | g.196996049C= | CA1217885166 | CFHR5 | c.563C= (p.Pro188=) n.887C= c.-24-65C= (n.-24-65C=) c.818C= (p.Pro273=) c.827C= (p.Pro276=) | |
1 | g.196996049C>G | CA344005450 | CFHR5 | c.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 |
1 | g.196996049C>T | CA344005451 | CFHR5 | c.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) | |
1 | g.196996050T>A | CA1307886 | CFHR5 | c.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 |
1 | g.196996050T>C | CA422802836 | CFHR5 | c.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=) | |
1 | g.196996050T>G | CA422802838 | CFHR5 | c.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=) | |
1 | g.196996050T= | CA1217885167 | CFHR5 | c.564T= (p.Pro188=) n.888T= c.-24-64T= (n.-24-64T=) c.819T= (p.Pro273=) c.828T= (p.Pro276=) | |
1 | g.196996051G>A | CA344005456 | CFHR5 | c.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) | |
1 | g.196996051G>C | CA344005454 | CFHR5 | c.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) | |
1 | g.196996051G>T | CA344005453 | CFHR5 | c.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) | |
1 | g.196996052A>C | CA344005458 | CFHR5 | c.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) | |
1 | g.196996052A>G | CA344005460 | CFHR5 | c.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) | |
1 | g.196996052A>T | CA344005462 | CFHR5 | c.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) | |
1 | g.196996053A>C | CA344005465 | CFHR5 | c.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) | |
1 | g.196996053A>G | CA422802840 | CFHR5 | c.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=) | |
1 | g.196996053A>T | CA344005466 | CFHR5 | c.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) | |
1 | g.196996054C>A | CA344005469 | CFHR5 | c.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) | |
1 | g.196996054C= | CA1217885168 | CFHR5 | c.568C= (p.Leu190=) n.892C= c.-24-60C= (n.-24-60C=) c.823C= (p.Leu275=) c.832C= (p.Leu278=) | |
1 | g.196996054C>G | CA344005472 | CFHR5 | c.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) | |
1 | g.196996054C>T | CA1307887 | CFHR5 | c.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 |
1 | g.196996055T>A | CA344005475 | CFHR5 | c.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) | |
1 | g.196996055T>C | CA344005476 | CFHR5 | c.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) | |
1 | g.196996055T>G | CA344005477 | CFHR5 | c.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) | |
1 | g.196996056C>A | CA422802842 | CFHR5 | c.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 |
1 | g.196996056C= | CA1217885169 | CFHR5 | c.570C= (p.Leu190=) n.894C= c.-24-58C= (n.-24-58C=) c.825C= (p.Leu275=) c.834C= (p.Leu278=) | |
1 | g.196996056C>G | CA422802843 | CFHR5 | c.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=) | |
1 | g.196996056C>T | CA1307888 | CFHR5 | c.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 |
1 | g.196996057G>A | CA1307889 | CFHR5 | c.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 |
1 | g.196996057G>C | CA344005480 | CFHR5 | c.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) | |
1 | g.196996057G= | CA1143358665 | CFHR5 | c.571G= (p.Glu191=) n.895G= c.-24-57G= (n.-24-57G=) c.826G= (p.Glu276=) c.835G= (p.Glu279=) | |
1 | g.196996057G>T | CA344005479 | CFHR5 | c.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) | |
1 | g.196996058A>C | CA344005482 | CFHR5 | c.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) | |
1 | g.196996058A>G | CA344005484 | CFHR5 | c.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) | |
1 | g.196996058A>T | CA344005485 | CFHR5 | c.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) | |
1 | g.196996059G>A | CA422802847 | CFHR5 | c.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=) | |
1 | g.196996059G>C | CA344005488 | CFHR5 | c.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) | |
1 | g.196996059G>T | CA344005490 | CFHR5 | c.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) | |
1 | g.196996060T>A | CA220087 | CFHR5 | c.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 |
1 | g.196996060T>C | CA344005493 | CFHR5 | c.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) | |
1 | g.196996060T>G | CA344005491 | CFHR5 | c.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) | |
1 | g.196996060T= | CA1143538549 | CFHR5 | c.574T= (p.Tyr192=) n.898T= c.-24-54T= (n.-24-54T=) c.829T= (p.Tyr277=) c.838T= (p.Tyr280=) | |
1 | g.196996061A= | CA1217885170 | CFHR5 | c.575A= (p.Tyr192=) n.899A= c.-24-53A= (n.-24-53A=) c.830A= (p.Tyr277=) c.839A= (p.Tyr280=) | |
1 | g.196996061A>C | CA344005496 | CFHR5 | c.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) | |
1 | g.196996061A>G | CA1307890 | CFHR5 | c.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 |
1 | g.196996061A>T | CA344005505 | CFHR5 | c.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) | |
1 | g.196996062C>A | CA344005506 | CFHR5 | c.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 |
1 | g.196996062C= | CA1143542265 | CFHR5 | c.576C= (p.Tyr192=) n.900C= c.-24-52C= (n.-24-52C=) c.831C= (p.Tyr277=) c.840C= (p.Tyr280=) | |
1 | g.196996062C>G | CA344005509 | CFHR5 | c.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) | |
1 | g.196996062C>T | CA1307891 | CFHR5 | c.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 |
1 | g.196996063G>A | CA1307892 | CFHR5 | c.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 |
1 | g.196996063G>C | CA344005526 | CFHR5 | c.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 |
1 | g.196996063G= | CA1141653787 | CFHR5 | c.577G= (p.Gly193=) n.901G= c.-24-51G= (n.-24-51G=) c.832G= (p.Gly278=) c.841G= (p.Gly281=) | |
1 | g.196996063G>T | CA344005523 | CFHR5 | c.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 |
1 | g.196996064G>A | CA344005528 | CFHR5 | c.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) | |
1 | g.196996064G>C | CA344005531 | CFHR5 | c.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) | |
1 | g.196996064G= | CA1217885171 | CFHR5 | c.578G= (p.Gly193=) n.902G= c.-24-50G= (n.-24-50G=) c.833G= (p.Gly278=) c.842G= (p.Gly281=) | |
1 | g.196996064G>T | CA35878589 | CFHR5 | c.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 |
1 | g.196996065T>A | CA422802854 | CFHR5 | c.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=) | |
1 | g.196996065T>C | CA422802852 | CFHR5 | c.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=) | |
1 | g.196996065T>G | CA422802853 | CFHR5 | c.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=) | |
1 | g.196996066T>A | CA1307893 | CFHR5 | c.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 |
1 | g.196996066T>C | CA344005535 | CFHR5 | c.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) | |
1 | g.196996066T>G | CA344005537 | CFHR5 | c.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 |
1 | g.196996066T= | CA1141917924 | CFHR5 | c.580T= (p.Tyr194=) n.904T= c.-24-48T= (n.-24-48T=) c.835T= (p.Tyr279=) c.844T= (p.Tyr282=) | |
1 | g.196996067A>C | CA344005541 | CFHR5 | c.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) | |
1 | g.196996067A>G | CA344005544 | CFHR5 | c.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) | |
1 | g.196996067A>T | CA344005547 | CFHR5 | c.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) | |
1 | g.196996068T>A | CA344005548 | CFHR5 | c.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) | |
1 | g.196996068T>C | CA422802858 | CFHR5 | c.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 |
1 | g.196996068T>G | CA344005551 | CFHR5 | c.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 |
1 | g.196996068T= | CA1217885172 | CFHR5 | c.582T= (p.Tyr194=) n.906T= c.-24-46T= (n.-24-46T=) c.837T= (p.Tyr279=) c.846T= (p.Tyr282=) | |
1 | g.196996069G>A | CA344005556 | CFHR5 | c.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 |
1 | g.196996069G>C | CA344005557 | CFHR5 | c.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) | |
1 | g.196996069G>T | CA344005553 | CFHR5 | c.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 |
1 | g.196996070T>A | CA344005559 | CFHR5 | c.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) | |
1 | g.196996070T>C | CA344005558 | CFHR5 | c.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) | |
1 | g.196996070T>G | CA344005560 | CFHR5 | c.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 |
1 | g.196996071T>A | CA422802860 | CFHR5 | c.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=) | |
1 | g.196996071T>C | CA422802861 | CFHR5 | c.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=) | |
1 | g.196996071T>G | CA422802862 | CFHR5 | c.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 |
1 | g.196996072C>A | CA344005562 | CFHR5 | c.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 |
1 | g.196996072C= | CA1217885173 | CFHR5 | c.586C= (p.Gln196=) n.910C= c.-24-42C= (n.-24-42C=) c.841C= (p.Gln281=) c.850C= (p.Gln284=) | |
1 | g.196996072C>G | CA344005564 | CFHR5 | c.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) | |
1 | g.196996072C>T | CA344005565 | CFHR5 | c.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 |
1 | g.196996073A= | CA1217885174 | CFHR5 | c.587A= (p.Gln196=) n.911A= c.-24-41A= (n.-24-41A=) c.842A= (p.Gln281=) c.851A= (p.Gln284=) | |
1 | g.196996073A>C | CA344005574 | CFHR5 | c.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) | |
1 | g.196996073A>G | CA344005577 | CFHR5 | c.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 |
1 | g.196996073A>T | CA344005579 | CFHR5 | c.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) | |
1 | g.196996074G>A | CA422802865 | CFHR5 | c.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 |
1 | g.196996074G>C | CA344005581 | CFHR5 | c.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 |
1 | g.196996074G= | CA1217885175 | CFHR5 | c.588G= (p.Gln196=) n.912G= c.-24-40G= (n.-24-40G=) c.843G= (p.Gln281=) c.852G= (p.Gln284=) | |
1 | g.196996074G>T | CA344005582 | CFHR5 | c.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) | |
1 | g.196996075C>A | CA344005584 | CFHR5 | c.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) | |
1 | g.196996075C>G | CA344005587 | CFHR5 | c.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) | |
1 | g.196996075C>T | CA344005588 | CFHR5 | c.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) | |
1 | g.196996076C>A | CA344005589 | CFHR5 | c.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) | |
1 | g.196996076C= | CA1217885176 | CFHR5 | c.590C= (p.Pro197=) n.914C= c.-24-38C= (n.-24-38C=) c.845C= (p.Pro282=) c.854C= (p.Pro285=) | |
1 | g.196996076C>G | CA344005591 | CFHR5 | c.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) | |
1 | g.196996076C>T | CA1307894 | CFHR5 | c.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 |
1 | g.196996077G>A | CA1307895 | CFHR5 | c.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 |
1 | g.196996077G>C | CA1307896 | CFHR5 | c.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 |
1 | g.196996077G= | CA1217885177 | CFHR5 | c.591G= (p.Pro197=) n.915G= c.-24-37G= (n.-24-37G=) c.846G= (p.Pro282=) c.855G= (p.Pro285=) | |
1 | g.196996077G>T | CA422802866 | CFHR5 | c.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 |
1 | g.196996078T>A | CA344005598 | CFHR5 | c.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) | |
1 | g.196996078T>C | CA344005601 | CFHR5 | c.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 |
1 | g.196996078T>G | CA344005602 | CFHR5 | c.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) | |
1 | g.196996078T= | CA1217885178 | CFHR5 | c.592T= (p.Ser198=) n.916T= c.-24-36T= (n.-24-36T=) c.847T= (p.Ser283=) c.856T= (p.Ser286=) | |
1 | g.196996079C>A | CA344005604 | CFHR5 | c.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) | |
1 | g.196996079C>G | CA344005606 | CFHR5 | c.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) | |
1 | g.196996079C>T | CA344005608 | CFHR5 | c.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) | |
1 | g.196996080T>A | CA422802868 | CFHR5 | c.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=) | |
1 | g.196996080T>C | CA1307897 | CFHR5 | c.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 |
1 | g.196996080T>G | CA422802869 | CFHR5 | c.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=) | |
1 | g.196996080T= | CA1217885179 | CFHR5 | c.594T= (p.Ser198=) n.918T= c.-24-34T= (n.-24-34T=) c.849T= (p.Ser283=) c.858T= (p.Ser286=) | |
1 | g.196996081G>A | CA344005610 | CFHR5 | c.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) | |
1 | g.196996081G>C | CA344005612 | CFHR5 | c.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 |
1 | g.196996081G= | CA1217885180 | CFHR5 | c.595G= (p.Val199=) n.919G= c.-24-33G= (n.-24-33G=) c.850G= (p.Val284=) c.859G= (p.Val287=) | |
1 | g.196996081G>T | CA344005614 | CFHR5 | c.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 |
1 | g.196996082T>A | CA344005616 | CFHR5 | c.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) | |
1 | g.196996082T>C | CA344005617 | CFHR5 | c.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 |
1 | g.196996082T>G | CA344005620 | CFHR5 | c.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) | |
1 | g.196996083C>A | CA422802871 | CFHR5 | c.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=) | |
1 | g.196996083C= | CA1217885181 | CFHR5 | c.597C= (p.Val199=) n.921C= c.-24-31C= (n.-24-31C=) c.852C= (p.Val284=) c.861C= (p.Val287=) | |
1 | g.196996083C>G | CA422802872 | CFHR5 | c.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 |
1 | g.196996083C>T | CA422802873 | CFHR5 | c.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 |
1 | g.196996084C>A | CA344005623 | CFHR5 | c.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) | |
1 | g.196996084C>G | CA344005627 | CFHR5 | c.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) | |
1 | g.196996084C>T | CA344005624 | CFHR5 | c.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) | |
1 | g.196996085C>A | CA344005630 | CFHR5 | c.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) | |
1 | g.196996085C>G | CA344005633 | CFHR5 | c.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) | |
1 | g.196996085C>T | CA344005635 | CFHR5 | c.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 |
1 | g.196996086T>A | CA422802876 | CFHR5 | c.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=) | |
1 | g.196996086T>C | CA422802878 | CFHR5 | c.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=) | |
1 | g.196996086T>G | CA422802877 | CFHR5 | c.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=) | |
1 | g.196996088_196996089insAACATGTTGTCC | CA2649656662 | CFHR5 | c.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 |
1 | g.196996087C>A | CA344005637 | CFHR5 | c.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) | |
1 | g.196996087C>G | CA344005642 | CFHR5 | c.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) | |
1 | g.196996087C>T | CA344005644 | CFHR5 | c.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) | |
1 | g.196996088C>A | CA344005646 | CFHR5 | c.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) | |
1 | g.196996088C= | CA1217885182 | CFHR5 | c.602C= (p.Pro201=) n.926C= c.-24-26C= (n.-24-26C=) c.857C= (p.Pro286=) c.866C= (p.Pro289=) | |
1 | g.196996088C>G | CA344005649 | CFHR5 | c.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 |
1 | g.196996088C>T | CA344005651 | CFHR5 | c.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 |
1 | g.196996089C>A | CA422802880 | CFHR5 | c.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=) | |
1 | g.196996089C= | CA1217885183 | CFHR5 | c.603C= (p.Pro201=) n.927C= c.-24-25C= (n.-24-25C=) c.858C= (p.Pro286=) c.867C= (p.Pro289=) | |
1 | g.196996089C>G | CA422802881 | CFHR5 | c.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=) | |
1 | g.196996089C>T | CA422802882 | CFHR5 | c.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 |
1 | g.196996090T>A | CA344005652 | CFHR5 | c.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) | |
1 | g.196996090T>C | CA344005653 | CFHR5 | c.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 |
1 | g.196996090T>G | CA344005655 | CFHR5 | c.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) | |
1 | g.196996091A>C | CA344005662 | CFHR5 | c.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) | |
1 | g.196996091A>G | CA344005660 | CFHR5 | c.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) | |
1 | g.196996091A>T | CA344005661 | CFHR5 | c.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) | |
1 | g.196996092T>A | CA344005665 | CFHR5 | c.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) | |
1 | g.196996092T>C | CA1307898 | CFHR5 | c.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 |
1 | g.196996092T>G | CA344005669 | CFHR5 | c.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 |
1 | g.196996092T= | CA1217885184 | CFHR5 | c.606T= (p.Tyr202=) n.930T= c.-24-22T= (n.-24-22T=) c.861T= (p.Tyr287=) c.870T= (p.Tyr290=) | |
1 | g.196996093C>A | CA344005672 | CFHR5 | c.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) | |
1 | g.196996093C= | CA1217885185 | CFHR5 | c.607C= (p.Gln203=) n.931C= c.-24-21C= (n.-24-21C=) c.862C= (p.Gln288=) c.871C= (p.Gln291=) | |
1 | g.196996093C>G | CA344005683 | CFHR5 | c.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 |
1 | g.196996093C>T | CA344005687 | CFHR5 | c.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 |
1 | g.196996094A>C | CA344005700 | CFHR5 | c.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) | |
1 | g.196996094A>G | CA344005702 | CFHR5 | c.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) | |
1 | g.196996094A>T | CA344005703 | CFHR5 | c.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) | |
1 | g.196996095A= | CA1217885186 | CFHR5 | c.609A= (p.Gln203=) n.933A= c.-24-19A= (n.-24-19A=) c.864A= (p.Gln288=) c.873A= (p.Gln291=) | |
1 | g.196996095A>C | CA344005707 | CFHR5 | c.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) | |
1 | g.196996095A>G | CA422802889 | CFHR5 | c.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 |
1 | g.196996095A>T | CA344005709 | CFHR5 | c.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) | |
1 | g.196996096C>A | CA344005715 | CFHR5 | c.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) | |
1 | g.196996096C= | CA1217885187 | CFHR5 | c.610C= (p.His204=) n.934C= c.-24-18C= (n.-24-18C=) c.865C= (p.His289=) c.874C= (p.His292=) | |
1 | g.196996096C>G | CA1307899 | CFHR5 | c.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 |
1 | g.196996096C>T | CA344005713 | CFHR5 | c.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 |
1 | g.196996097A= | CA1148397617 | CFHR5 | c.611A= (p.His204=) n.935A= c.-24-17A= (n.-24-17A=) c.866A= (p.His289=) c.875A= (p.His292=) | |
1 | g.196996097A>C | CA344005724 | CFHR5 | c.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) | |
1 | g.196996097A>G | CA1307900 | CFHR5 | c.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 |
1 | g.196996097A>T | CA344005722 | CFHR5 | c.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) | |
1 | g.196996098T>A | CA344005728 | CFHR5 | c.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) | |
1 | g.196996098T>C | CA422668240 | CFHR5 | c.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=) | |
1 | g.196996098T>G | CA344005729 | CFHR5 | c.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) | |
1 | g.196996099G>A | CA344005730 | CFHR5 | c.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) | |
1 | g.196996099G>C | CA35878620 | CFHR5 | c.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 |
1 | g.196996099G= | CA1217885188 | CFHR5 | c.613G= (p.Gly205=) n.937G= c.-24-15G= (n.-24-15G=) c.868G= (p.Gly290=) c.877G= (p.Gly293=) | |
1 | g.196996099G>T | CA344005731 | CFHR5 | c.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) | |
1 | g.196996100G>A | CA344005732 | CFHR5 | c.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 |
1 | g.196996100G>C | CA344005733 | CFHR5 | c.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 |
1 | g.196996100G= | CA1217885189 | CFHR5 | c.614G= (p.Gly205=) n.938G= c.-24-14G= (n.-24-14G=) c.869G= (p.Gly290=) c.878G= (p.Gly293=) | |
1 | g.196996100G>T | CA344005734 | CFHR5 | c.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) | |
1 | g.196996101A>C | CA422668241 | CFHR5 | c.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 |
1 | g.196996101A>G | CA422668243 | CFHR5 | c.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=) | |
1 | g.196996101A>T | CA422668244 | CFHR5 | c.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=) | |
1 | g.196996102G>A | CA344005735 | CFHR5 | c.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 |
1 | g.196996102G>C | CA344005736 | CFHR5 | c.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) | |
1 | g.196996102G>T | CA344005738 | CFHR5 | c.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 |
1 | g.196996103T>A | CA344005743 | CFHR5 | c.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) | |
1 | g.196996103T>C | CA344005739 | CFHR5 | c.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) | |
1 | g.196996103T>G | CA344005742 | CFHR5 | c.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) | |
1 | g.196996104T>A | CA422668247 | CFHR5 | c.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=) | |
1 | g.196996104T>C | CA422668248 | CFHR5 | c.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=) | |
1 | g.196996104T>G | CA422668250 | CFHR5 | c.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=) | |
1 | g.196996105T>A | CA344005745 | CFHR5 | c.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 |
1 | g.196996105T>C | CA344005746 | CFHR5 | c.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) | |
1 | g.196996105T>G | CA344005747 | CFHR5 | c.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) | |
1 | g.196996106C>A | CA344005748 | CFHR5 | c.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) | |
1 | g.196996106C>G | CA344005749 | CFHR5 | c.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) | |
1 | g.196996106C>T | CA344005750 | CFHR5 | c.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 |
1 | g.196996107A= | CA1217885190 | CFHR5 | c.621A= (p.Ser207=) n.945A= c.-24-7A= (n.-24-7A=) c.876A= (p.Ser292=) c.885A= (p.Ser295=) | |
1 | g.196996107A>C | CA422668254 | CFHR5 | c.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=) | |
1 | g.196996107A>G | CA1307901 | CFHR5 | c.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 |
1 | g.196996107A>T | CA422668251 | CFHR5 | c.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=) | |
1 | g.196996108G>A | CA344005752 | CFHR5 | c.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) | |
1 | g.196996108G>C | CA344005753 | CFHR5 | c.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) | |
1 | g.196996108G>T | CA344005756 | CFHR5 | c.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) | |
1 | g.196996109T>A | CA344005759 | CFHR5 | c.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) | |
1 | g.196996109T>C | CA344005761 | CFHR5 | c.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) | |
1 | g.196996109T>G | CA344005768 | CFHR5 | c.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) | |
1 | g.196996110C>A | CA422668258 | CFHR5 | c.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 |
1 | g.196996110C= | CA1144050179 | CFHR5 | c.624C= (p.Val208=) n.948C= c.-24-4C= (n.-24-4C=) c.879C= (p.Val293=) c.888C= (p.Val296=) | |
1 | g.196996110C>G | CA422668259 | CFHR5 | c.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=) | |
1 | g.196996110C>T | CA1307902 | CFHR5 | c.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 |
1 | g.196996111G>A | CA1307903 | CFHR5 | c.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 |
1 | g.196996111G>C | CA344005772 | CFHR5 | c.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 |
1 | g.196996111G= | CA1143459807 | CFHR5 | c.625G= (p.Glu209=) n.949G= c.-24-3G= (n.-24-3G=) c.880G= (p.Glu294=) c.889G= (p.Glu297=) | |
1 | g.196996111G>T | CA1307904 | CFHR5 | c.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 |
1 | g.196996112A>C | CA344005773 | CFHR5 | c.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) | |
1 | g.196996112A>G | CA344005774 | CFHR5 | c.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) | |
1 | g.196996112A>T | CA344005776 | CFHR5 | c.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) | |
1 | g.196996113G>A | CA422668263 | CFHR5 | c.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=) | |
1 | g.196996113G>C | CA344005778 | CFHR5 | c.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) | |
1 | g.196996113G>T | CA344005780 | CFHR5 | c.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) | |
1 | g.196996114G>A | CA1307905 | CFHR5 | c.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 |
1 | g.196996114G>C | CA344005785 | CFHR5 | c.628G>C (p.Val210Leu) n.952G>C c.-24G>C (n.-24G>C) c.883G>C (p.Val295Leu) c.892G>C (p.Val298Leu) | |
1 | g.196996114G= | CA1217885191 | CFHR5 | c.628G= (p.Val210=) n.952G= c.-24G= (n.-24G=) c.883G= (p.Val295=) c.892G= (p.Val298=) | |
1 | g.196996114G>T | CA344005802 | CFHR5 | c.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 |
1 | g.196996115T>A | CA1307906 | CFHR5 | c.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 |
1 | g.196996115T>C | CA344005805 | CFHR5 | c.629T>C (p.Val210Ala) n.953T>C c.-23T>C (n.-23T>C) c.884T>C (p.Val295Ala) c.893T>C (p.Val298Ala) | |
1 | g.196996115T>G | CA344005809 | CFHR5 | c.629T>G (p.Val210Gly) n.953T>G c.-23T>G (n.-23T>G) c.884T>G (p.Val295Gly) c.893T>G (p.Val298Gly) | |
1 | g.196996115T= | CA1217885192 | CFHR5 | c.629T= (p.Val210=) n.953T= c.-23T= (n.-23T=) c.884T= (p.Val295=) c.893T= (p.Val298=) | |
1 | g.196996116G>A | CA422668264 | CFHR5 | c.630G>A (p.Val210=) n.954G>A c.-22G>A (n.-22G>A) c.885G>A (p.Val295=) c.894G>A (p.Val298=) | |
1 | g.196996116G>C | CA422668265 | CFHR5 | c.630G>C (p.Val210=) n.954G>C c.-22G>C (n.-22G>C) c.885G>C (p.Val295=) c.894G>C (p.Val298=) | |
1 | g.196996116G>T | CA422668266 | CFHR5 | c.630G>T (p.Val210=) n.954G>T c.-22G>T (n.-22G>T) c.885G>T (p.Val295=) c.894G>T (p.Val298=) | |
1 | g.196996117A>C | CA344005816 | CFHR5 | c.631A>C (p.Asn211His) n.955A>C c.-21A>C (n.-21A>C) c.886A>C (p.Asn296His) c.895A>C (p.Asn299His) | |
1 | g.196996117A>G | CA344005814 | CFHR5 | c.631A>G (p.Asn211Asp) n.955A>G c.-21A>G (n.-21A>G) c.886A>G (p.Asn296Asp) c.895A>G (p.Asn299Asp) | |
1 | g.196996117A>T | CA344005815 | CFHR5 | c.631A>T (p.Asn211Tyr) n.955A>T c.-21A>T (n.-21A>T) c.886A>T (p.Asn296Tyr) c.895A>T (p.Asn299Tyr) | |
1 | g.196996118A>C | CA344005820 | CFHR5 | c.632A>C (p.Asn211Thr) n.956A>C c.-20A>C (n.-20A>C) c.887A>C (p.Asn296Thr) c.896A>C (p.Asn299Thr) | |
1 | g.196996118A>G | CA344005822 | CFHR5 | c.632A>G (p.Asn211Ser) n.956A>G c.-20A>G (n.-20A>G) c.887A>G (p.Asn296Ser) c.896A>G (p.Asn299Ser) | |
1 | g.196996118A>T | CA344005824 | CFHR5 | c.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 |
1 | g.196996119T>A | CA344005826 | CFHR5 | c.633T>A (p.Asn211Lys) n.957T>A c.-19T>A (n.-19T>A) c.888T>A (p.Asn296Lys) c.897T>A (p.Asn299Lys) | |
1 | g.196996119T>C | CA422668269 | CFHR5 | c.633T>C (p.Asn211=) n.957T>C c.-19T>C (n.-19T>C) c.888T>C (p.Asn296=) c.897T>C (p.Asn299=) | dbSNP |
1 | g.196996119T>G | CA344005829 | CFHR5 | c.633T>G (p.Asn211Lys) n.957T>G c.-19T>G (n.-19T>G) c.888T>G (p.Asn296Lys) c.897T>G (p.Asn299Lys) | |
1 | g.196996120T>A | CA344005832 | CFHR5 | c.634T>A (p.Cys212Ser) n.958T>A c.-18T>A (n.-18T>A) c.889T>A (p.Cys297Ser) c.898T>A (p.Cys300Ser) | |
1 | g.196996120T>C | CA344005834 | CFHR5 | c.634T>C (p.Cys212Arg) n.958T>C c.-18T>C (n.-18T>C) c.889T>C (p.Cys297Arg) c.898T>C (p.Cys300Arg) | |
1 | g.196996120T>G | CA344005837 | CFHR5 | c.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 |
1 | g.196996120T= | CA1217885193 | CFHR5 | c.634T= (p.Cys212=) n.958T= c.-18T= (n.-18T=) c.889T= (p.Cys297=) c.898T= (p.Cys300=) | |
1 | g.196996121G>A | CA344005841 | CFHR5 | c.635G>A (p.Cys212Tyr) n.959G>A c.-17G>A (n.-17G>A) c.890G>A (p.Cys297Tyr) c.899G>A (p.Cys300Tyr) | |
1 | g.196996121G>C | CA344005843 | CFHR5 | c.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 |
1 | g.196996121G>T | CA344005856 | CFHR5 | c.635G>T (p.Cys212Phe) n.959G>T c.-17G>T (n.-17G>T) c.890G>T (p.Cys297Phe) c.899G>T (p.Cys300Phe) | |
1 | g.196996122C>A | CA344005859 | CFHR5 | c.636C>A (p.Cys212Ter) n.960C>A c.-16C>A (n.-16C>A) c.891C>A (p.Cys297Ter) c.900C>A (p.Cys300Ter) | |
1 | g.196996122C>G | CA344005861 | CFHR5 | c.636C>G (p.Cys212Trp) n.960C>G c.-16C>G (n.-16C>G) c.891C>G (p.Cys297Trp) c.900C>G (p.Cys300Trp) | |
1 | g.196996122C>T | CA422668270 | CFHR5 | c.636C>T (p.Cys212=) n.960C>T c.-16C>T (n.-16C>T) c.891C>T (p.Cys297=) c.900C>T (p.Cys300=) | |
1 | g.196996123A= | CA1217885194 | CFHR5 | c.637A= (p.Arg213=) n.961A= c.-15A= (n.-15A=) c.892A= (p.Arg298=) c.901A= (p.Arg301=) | |
1 | g.196996123A>C | CA422668271 | CFHR5 | c.637A>C (p.Arg213=) n.961A>C c.-15A>C (n.-15A>C) c.892A>C (p.Arg298=) c.901A>C (p.Arg301=) | |
1 | g.196996123A>G | CA1307907 | CFHR5 | c.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 |
1 | g.196996123A>T | CA344005869 | CFHR5 | c.637A>T (p.Arg213Ter) n.961A>T c.-15A>T (n.-15A>T) c.892A>T (p.Arg298Ter) c.901A>T (p.Arg301Ter) | |
1 | g.196996124G>A | CA344005880 | CFHR5 | c.638G>A (p.Arg213Lys) n.962G>A c.-14G>A (n.-14G>A) c.893G>A (p.Arg298Lys) c.902G>A (p.Arg301Lys) | |
1 | g.196996124G>C | CA344005886 | CFHR5 | c.638G>C (p.Arg213Thr) n.962G>C c.-14G>C (n.-14G>C) c.893G>C (p.Arg298Thr) c.902G>C (p.Arg301Thr) | |
1 | g.196996124G= | CA1217885195 | CFHR5 | c.638G= (p.Arg213=) n.962G= c.-14G= (n.-14G=) c.893G= (p.Arg298=) c.902G= (p.Arg301=) | |
1 | g.196996124G>T | CA344005884 | CFHR5 | c.638G>T (p.Arg213Ile) n.962G>T c.-14G>T (n.-14G>T) c.893G>T (p.Arg298Ile) c.902G>T (p.Arg301Ile) | |
1 | g.196996125A= | CA1217885196 | CFHR5 | c.639A= (p.Arg213=) n.963A= c.-13A= (n.-13A=) c.894A= (p.Arg298=) c.903A= (p.Arg301=) | |
1 | g.196996125A>C | CA344005889 | CFHR5 | c.639A>C (p.Arg213Ser) n.963A>C c.-13A>C (n.-13A>C) c.894A>C (p.Arg298Ser) c.903A>C (p.Arg301Ser) | |
1 | g.196996125A>G | CA422668275 | CFHR5 | c.639A>G (p.Arg213=) n.963A>G c.-13A>G (n.-13A>G) c.894A>G (p.Arg298=) c.903A>G (p.Arg301=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996125A>T | CA344005891 | CFHR5 | c.639A>T (p.Arg213Ser) n.963A>T c.-13A>T (n.-13A>T) c.894A>T (p.Arg298Ser) c.903A>T (p.Arg301Ser) | |
1 | g.196996127dup | CA729718857 | CFHR5 | c.641dup (p.Asn214LysfsTer2) n.965dup c.-11dup (n.-11dup) c.896dup (p.Asn299LysfsTer2) c.905dup (p.Asn302LysfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996126A>C | CA344005895 | CFHR5 | c.640A>C (p.Asn214His) n.964A>C c.-12A>C (n.-12A>C) c.895A>C (p.Asn299His) c.904A>C (p.Asn302His) | |
1 | g.196996126A>G | CA344005903 | CFHR5 | c.640A>G (p.Asn214Asp) n.964A>G c.-12A>G (n.-12A>G) c.895A>G (p.Asn299Asp) c.904A>G (p.Asn302Asp) | |
1 | g.196996126A>T | CA344005906 | CFHR5 | c.640A>T (p.Asn214Tyr) n.964A>T c.-12A>T (n.-12A>T) c.895A>T (p.Asn299Tyr) c.904A>T (p.Asn302Tyr) | gnomAD v4 |
1 | g.196996127A= | CA1217885197 | CFHR5 | c.641A= (p.Asn214=) n.965A= c.-11A= (n.-11A=) c.896A= (p.Asn299=) c.905A= (p.Asn302=) | |
1 | g.196996127A>C | CA344005908 | CFHR5 | c.641A>C (p.Asn214Thr) n.965A>C c.-11A>C (n.-11A>C) c.896A>C (p.Asn299Thr) c.905A>C (p.Asn302Thr) | |
1 | g.196996127A>G | CA344005911 | CFHR5 | c.641A>G (p.Asn214Ser) n.965A>G c.-11A>G (n.-11A>G) c.896A>G (p.Asn299Ser) c.905A>G (p.Asn302Ser) | dbSNP gnomAD v4 |
1 | g.196996127A>T | CA344005913 | CFHR5 | c.641A>T (p.Asn214Ile) n.965A>T c.-11A>T (n.-11A>T) c.896A>T (p.Asn299Ile) c.905A>T (p.Asn302Ile) | |
1 | g.196996128T>A | CA344005915 | CFHR5 | c.642T>A (p.Asn214Lys) n.966T>A c.-10T>A (n.-10T>A) c.897T>A (p.Asn299Lys) c.906T>A (p.Asn302Lys) | |
1 | g.196996128T>C | CA422668279 | CFHR5 | c.642T>C (p.Asn214=) n.966T>C c.-10T>C (n.-10T>C) c.897T>C (p.Asn299=) c.906T>C (p.Asn302=) | |
1 | g.196996128T>G | CA344005925 | CFHR5 | c.642T>G (p.Asn214Lys) n.966T>G c.-10T>G (n.-10T>G) c.897T>G (p.Asn299Lys) c.906T>G (p.Asn302Lys) | |
1 | g.196996128T= | CA1217885198 | CFHR5 | c.642T= (p.Asn214=) n.966T= c.-10T= (n.-10T=) c.897T= (p.Asn299=) c.906T= (p.Asn302=) | |
1 | g.196996129G>A | CA1307908 | CFHR5 | c.643G>A (p.Glu215Lys) n.967G>A c.-9G>A (n.-9G>A) c.898G>A (p.Glu300Lys) c.907G>A (p.Glu303Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.196996129G>C | CA344005930 | CFHR5 | c.643G>C (p.Glu215Gln) n.967G>C c.-9G>C (n.-9G>C) c.898G>C (p.Glu300Gln) c.907G>C (p.Glu303Gln) | |
1 | g.196996129G= | CA1217885199 | CFHR5 | c.643G= (p.Glu215=) n.967G= c.-9G= (n.-9G=) c.898G= (p.Glu300=) c.907G= (p.Glu303=) | |
1 | g.196996129G>T | CA344005933 | CFHR5 | c.643G>T (p.Glu215Ter) n.967G>T c.-9G>T (n.-9G>T) c.898G>T (p.Glu300Ter) c.907G>T (p.Glu303Ter) | gnomAD v4 |
1 | g.196996129_196996131dup | CA1217885200 | CFHR5 | c.643_645dup (p.Glu215_Tyr216insGlu) n.967_969dup c.-9_-7dup (n.-9_-7dup) c.898_900dup (p.Glu300_Tyr301insGlu) c.907_909dup (p.Glu303_Tyr304insGlu) | dbSNP |
1 | g.196996130A>C | CA344005952 | CFHR5 | c.644A>C (p.Glu215Ala) n.968A>C c.-8A>C (n.-8A>C) c.899A>C (p.Glu300Ala) c.908A>C (p.Glu303Ala) | |
1 | g.196996130A>G | CA344005937 | CFHR5 | c.644A>G (p.Glu215Gly) n.968A>G c.-8A>G (n.-8A>G) c.899A>G (p.Glu300Gly) c.908A>G (p.Glu303Gly) | |
1 | g.196996130A>T | CA344005948 | CFHR5 | c.644A>T (p.Glu215Val) n.968A>T c.-8A>T (n.-8A>T) c.899A>T (p.Glu300Val) c.908A>T (p.Glu303Val) | |
1 | g.196996131A>C | CA344005955 | CFHR5 | c.645A>C (p.Glu215Asp) n.969A>C c.-7A>C (n.-7A>C) c.900A>C (p.Glu300Asp) c.909A>C (p.Glu303Asp) | |
1 | g.196996131A>G | CA422668282 | CFHR5 | c.645A>G (p.Glu215=) n.969A>G c.-7A>G (n.-7A>G) c.900A>G (p.Glu300=) c.909A>G (p.Glu303=) | |
1 | g.196996131A>T | CA344005959 | CFHR5 | c.645A>T (p.Glu215Asp) n.969A>T c.-7A>T (n.-7A>T) c.900A>T (p.Glu300Asp) c.909A>T (p.Glu303Asp) | |
1 | g.196996132T>A | CA344005965 | CFHR5 | c.646T>A (p.Tyr216Asn) n.970T>A c.-6T>A (n.-6T>A) c.901T>A (p.Tyr301Asn) c.910T>A (p.Tyr304Asn) | |
1 | g.196996132T>C | CA344005967 | CFHR5 | c.646T>C (p.Tyr216His) n.970T>C c.-6T>C (n.-6T>C) c.901T>C (p.Tyr301His) c.910T>C (p.Tyr304His) | |
1 | g.196996132T>G | CA344005969 | CFHR5 | c.646T>G (p.Tyr216Asp) n.970T>G c.-6T>G (n.-6T>G) c.901T>G (p.Tyr301Asp) c.910T>G (p.Tyr304Asp) | |
1 | g.196996133A>C | CA344005974 | CFHR5 | c.647A>C (p.Tyr216Ser) n.971A>C c.-5A>C (n.-5A>C) c.902A>C (p.Tyr301Ser) c.911A>C (p.Tyr304Ser) | |
1 | g.196996133A>G | CA344005977 | CFHR5 | c.647A>G (p.Tyr216Cys) n.971A>G c.-5A>G (n.-5A>G) c.902A>G (p.Tyr301Cys) c.911A>G (p.Tyr304Cys) | gnomAD v4 |
1 | g.196996133A>T | CA344005980 | CFHR5 | c.647A>T (p.Tyr216Phe) n.971A>T c.-5A>T (n.-5A>T) c.902A>T (p.Tyr301Phe) c.911A>T (p.Tyr304Phe) | |
1 | g.196996134T>A | CA344005982 | CFHR5 | c.648T>A (p.Tyr216Ter) n.972T>A c.-4T>A (n.-4T>A) c.903T>A (p.Tyr301Ter) c.912T>A (p.Tyr304Ter) | |
1 | g.196996134T>C | CA10609259 | CFHR5 | c.648T>C (p.Tyr216=) n.972T>C c.-4T>C (n.-4T>C) c.903T>C (p.Tyr301=) c.912T>C (p.Tyr304=) | ClinVar dbSNP gnomAD v4 |
1 | g.196996134T>G | CA344005988 | CFHR5 | c.648T>G (p.Tyr216Ter) n.972T>G c.-4T>G (n.-4T>G) c.903T>G (p.Tyr301Ter) c.912T>G (p.Tyr304Ter) | |
1 | g.196996134T= | CA1217885201 | CFHR5 | c.648T= (p.Tyr216=) n.972T= c.-4T= (n.-4T=) c.903T= (p.Tyr301=) c.912T= (p.Tyr304=) |