Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.196995819G>ACA344004901CFHR5c.455G>A (p.Cys152Tyr)
n.779G>A
c.-24-295G>A (n.-24-295G>A)
c.710G>A (p.Cys237Tyr)
c.719G>A (p.Cys240Tyr)
1g.196995819G>CCA344004899CFHR5c.455G>C (p.Cys152Ser)
n.779G>C
c.-24-295G>C (n.-24-295G>C)
c.710G>C (p.Cys237Ser)
c.719G>C (p.Cys240Ser)
1g.196995819G>TCA344004898CFHR5c.455G>T (p.Cys152Phe)
n.779G>T
c.-24-295G>T (n.-24-295G>T)
c.710G>T (p.Cys237Phe)
c.719G>T (p.Cys240Phe)
1g.196995820C>ACA1307841CFHR5c.456C>A (p.Cys152Ter)
n.780C>A
c.-24-294C>A (n.-24-294C>A)
c.711C>A (p.Cys237Ter)
c.720C>A (p.Cys240Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995820C=CA1143472234CFHR5c.456C= (p.Cys152=)
n.780C=
c.-24-294C= (n.-24-294C=)
c.711C= (p.Cys237=)
c.720C= (p.Cys240=)
1g.196995820C>GCA344004903CFHR5c.456C>G (p.Cys152Trp)
n.780C>G
c.-24-294C>G (n.-24-294C>G)
c.711C>G (p.Cys237Trp)
c.720C>G (p.Cys240Trp)
1g.196995820C>TCA422802750CFHR5c.456C>T (p.Cys152=)
n.780C>T
c.-24-294C>T (n.-24-294C>T)
c.711C>T (p.Cys237=)
c.720C>T (p.Cys240=)
 gnomAD v4
1g.196995821A>CCA344004905CFHR5c.457A>C (p.Asn153His)
n.781A>C
c.-24-293A>C (n.-24-293A>C)
c.712A>C (p.Asn238His)
c.721A>C (p.Asn241His)
1g.196995821A>GCA344004907CFHR5c.457A>G (p.Asn153Asp)
n.781A>G
c.-24-293A>G (n.-24-293A>G)
c.712A>G (p.Asn238Asp)
c.721A>G (p.Asn241Asp)
1g.196995821A>TCA344004909CFHR5c.457A>T (p.Asn153Tyr)
n.781A>T
c.-24-293A>T (n.-24-293A>T)
c.712A>T (p.Asn238Tyr)
c.721A>T (p.Asn241Tyr)
1g.196995822A>CCA344004911CFHR5c.458A>C (p.Asn153Thr)
n.782A>C
c.-24-292A>C (n.-24-292A>C)
c.713A>C (p.Asn238Thr)
c.722A>C (p.Asn241Thr)
1g.196995822A>GCA344004912CFHR5c.458A>G (p.Asn153Ser)
n.782A>G
c.-24-292A>G (n.-24-292A>G)
c.713A>G (p.Asn238Ser)
c.722A>G (p.Asn241Ser)
1g.196995822A>TCA344004914CFHR5c.458A>T (p.Asn153Ile)
n.782A>T
c.-24-292A>T (n.-24-292A>T)
c.713A>T (p.Asn238Ile)
c.722A>T (p.Asn241Ile)
1g.196995823T>ACA344004915CFHR5c.459T>A (p.Asn153Lys)
n.783T>A
c.-24-291T>A (n.-24-291T>A)
c.714T>A (p.Asn238Lys)
c.723T>A (p.Asn241Lys)
1g.196995823T>CCA422802754CFHR5c.459T>C (p.Asn153=)
n.783T>C
c.-24-291T>C (n.-24-291T>C)
c.714T>C (p.Asn238=)
c.723T>C (p.Asn241=)
 gnomAD v4
1g.196995823T>GCA344004917CFHR5c.459T>G (p.Asn153Lys)
n.783T>G
c.-24-291T>G (n.-24-291T>G)
c.714T>G (p.Asn238Lys)
c.723T>G (p.Asn241Lys)
1g.196995824C>ACA344004919CFHR5c.460C>A (p.Pro154Thr)
n.784C>A
c.-24-290C>A (n.-24-290C>A)
c.715C>A (p.Pro239Thr)
c.724C>A (p.Pro242Thr)
 gnomAD v4
1g.196995824C>GCA344004921CFHR5c.460C>G (p.Pro154Ala)
n.784C>G
c.-24-290C>G (n.-24-290C>G)
c.715C>G (p.Pro239Ala)
c.724C>G (p.Pro242Ala)
1g.196995824C>TCA344004922CFHR5c.460C>T (p.Pro154Ser)
n.784C>T
c.-24-290C>T (n.-24-290C>T)
c.715C>T (p.Pro239Ser)
c.724C>T (p.Pro242Ser)
1g.196995825C>ACA344004928CFHR5c.461C>A (p.Pro154His)
n.785C>A
c.-24-289C>A (n.-24-289C>A)
c.716C>A (p.Pro239His)
c.725C>A (p.Pro242His)
 dbSNP gnomAD v2 gnomAD v4
1g.196995825C=CA1217885060CFHR5c.461C= (p.Pro154=)
n.785C=
c.-24-289C= (n.-24-289C=)
c.716C= (p.Pro239=)
c.725C= (p.Pro242=)
1g.196995825C>GCA344004925CFHR5c.461C>G (p.Pro154Arg)
n.785C>G
c.-24-289C>G (n.-24-289C>G)
c.716C>G (p.Pro239Arg)
c.725C>G (p.Pro242Arg)
1g.196995825C>TCA1307842CFHR5c.461C>T (p.Pro154Leu)
n.785C>T
c.-24-289C>T (n.-24-289C>T)
c.716C>T (p.Pro239Leu)
c.725C>T (p.Pro242Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995826T>ACA422802756CFHR5c.462T>A (p.Pro154=)
n.786T>A
c.-24-288T>A (n.-24-288T>A)
c.717T>A (p.Pro239=)
c.726T>A (p.Pro242=)
1g.196995826T>CCA35878290CFHR5c.462T>C (p.Pro154=)
n.786T>C
c.-24-288T>C (n.-24-288T>C)
c.717T>C (p.Pro239=)
c.726T>C (p.Pro242=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995826T>GCA422802755CFHR5c.462T>G (p.Pro154=)
n.786T>G
c.-24-288T>G (n.-24-288T>G)
c.717T>G (p.Pro239=)
c.726T>G (p.Pro242=)
 dbSNP gnomAD v4
1g.196995826T=CA1141199001CFHR5c.462T= (p.Pro154=)
n.786T=
c.-24-288T= (n.-24-288T=)
c.717T= (p.Pro239=)
c.726T= (p.Pro242=)
1g.196995827A=CA1217885061CFHR5c.463A= (p.Asn155=)
n.787A=
c.-24-287A= (n.-24-287A=)
c.718A= (p.Asn240=)
c.727A= (p.Asn243=)
1g.196995827A>CCA344004930CFHR5c.463A>C (p.Asn155His)
n.787A>C
c.-24-287A>C (n.-24-287A>C)
c.718A>C (p.Asn240His)
c.727A>C (p.Asn243His)
1g.196995827A>GCA1307843CFHR5c.463A>G (p.Asn155Asp)
n.787A>G
c.-24-287A>G (n.-24-287A>G)
c.718A>G (p.Asn240Asp)
c.727A>G (p.Asn243Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995827A>TCA344004933CFHR5c.463A>T (p.Asn155Tyr)
n.787A>T
c.-24-287A>T (n.-24-287A>T)
c.718A>T (p.Asn240Tyr)
c.727A>T (p.Asn243Tyr)
1g.196995828A>CCA344004935CFHR5c.464A>C (p.Asn155Thr)
n.788A>C
c.-24-286A>C (n.-24-286A>C)
c.719A>C (p.Asn240Thr)
c.728A>C (p.Asn243Thr)
 gnomAD v4
1g.196995828A>GCA344004936CFHR5c.464A>G (p.Asn155Ser)
n.788A>G
c.-24-286A>G (n.-24-286A>G)
c.719A>G (p.Asn240Ser)
c.728A>G (p.Asn243Ser)
1g.196995828A>TCA344004938CFHR5c.464A>T (p.Asn155Ile)
n.788A>T
c.-24-286A>T (n.-24-286A>T)
c.719A>T (p.Asn240Ile)
c.728A>T (p.Asn243Ile)
1g.196995829T>ACA344004940CFHR5c.465T>A (p.Asn155Lys)
n.789T>A
c.-24-285T>A (n.-24-285T>A)
c.720T>A (p.Asn240Lys)
c.729T>A (p.Asn243Lys)
1g.196995829T>CCA422802759CFHR5c.465T>C (p.Asn155=)
n.789T>C
c.-24-285T>C (n.-24-285T>C)
c.720T>C (p.Asn240=)
c.729T>C (p.Asn243=)
 gnomAD v4
1g.196995829T>GCA344004941CFHR5c.465T>G (p.Asn155Lys)
n.789T>G
c.-24-285T>G (n.-24-285T>G)
c.720T>G (p.Asn240Lys)
c.729T>G (p.Asn243Lys)
1g.196995830T>ACA344004943CFHR5c.466T>A (p.Phe156Ile)
n.790T>A
c.-24-284T>A (n.-24-284T>A)
c.721T>A (p.Phe241Ile)
c.730T>A (p.Phe244Ile)
1g.196995830T>CCA344004945CFHR5c.466T>C (p.Phe156Leu)
n.790T>C
c.-24-284T>C (n.-24-284T>C)
c.721T>C (p.Phe241Leu)
c.730T>C (p.Phe244Leu)
 COSMIC
1g.196995830T>GCA344004946CFHR5c.466T>G (p.Phe156Val)
n.790T>G
c.-24-284T>G (n.-24-284T>G)
c.721T>G (p.Phe241Val)
c.730T>G (p.Phe244Val)
 COSMIC COSMIC
1g.196995831T>ACA344004952CFHR5c.467T>A (p.Phe156Tyr)
n.791T>A
c.-24-283T>A (n.-24-283T>A)
c.722T>A (p.Phe241Tyr)
c.731T>A (p.Phe244Tyr)
1g.196995831T>CCA344004950CFHR5c.467T>C (p.Phe156Ser)
n.791T>C
c.-24-283T>C (n.-24-283T>C)
c.722T>C (p.Phe241Ser)
c.731T>C (p.Phe244Ser)
1g.196995831T>GCA344004949CFHR5c.467T>G (p.Phe156Cys)
n.791T>G
c.-24-283T>G (n.-24-283T>G)
c.722T>G (p.Phe241Cys)
c.731T>G (p.Phe244Cys)
1g.196995832T>ACA344004955CFHR5c.468T>A (p.Phe156Leu)
n.792T>A
c.-24-282T>A (n.-24-282T>A)
c.723T>A (p.Phe241Leu)
c.732T>A (p.Phe244Leu)
1g.196995832T>CCA35878305CFHR5c.468T>C (p.Phe156=)
n.792T>C
c.-24-282T>C (n.-24-282T>C)
c.723T>C (p.Phe241=)
c.732T>C (p.Phe244=)
 dbSNP
1g.196995832T>GCA344004957CFHR5c.468T>G (p.Phe156Leu)
n.792T>G
c.-24-282T>G (n.-24-282T>G)
c.723T>G (p.Phe241Leu)
c.732T>G (p.Phe244Leu)
1g.196995832T=CA1217885062CFHR5c.468T= (p.Phe156=)
n.792T=
c.-24-282T= (n.-24-282T=)
c.723T= (p.Phe241=)
c.732T= (p.Phe244=)
1g.196995833A>CCA344004958CFHR5c.469A>C (p.Ile157Leu)
n.793A>C
c.-24-281A>C (n.-24-281A>C)
c.724A>C (p.Ile242Leu)
c.733A>C (p.Ile245Leu)
1g.196995833A>GCA344004960CFHR5c.469A>G (p.Ile157Val)
n.793A>G
c.-24-281A>G (n.-24-281A>G)
c.724A>G (p.Ile242Val)
c.733A>G (p.Ile245Val)
1g.196995833A>TCA344004961CFHR5c.469A>T (p.Ile157Leu)
n.793A>T
c.-24-281A>T (n.-24-281A>T)
c.724A>T (p.Ile242Leu)
c.733A>T (p.Ile245Leu)
1g.196995834T>ACA344004962CFHR5c.470T>A (p.Ile157Lys)
n.794T>A
c.-24-280T>A (n.-24-280T>A)
c.725T>A (p.Ile242Lys)
c.734T>A (p.Ile245Lys)
1g.196995834T>CCA344004963CFHR5c.470T>C (p.Ile157Thr)
n.794T>C
c.-24-280T>C (n.-24-280T>C)
c.725T>C (p.Ile242Thr)
c.734T>C (p.Ile245Thr)
1g.196995834T>GCA344004964CFHR5c.470T>G (p.Ile157Arg)
n.794T>G
c.-24-280T>G (n.-24-280T>G)
c.725T>G (p.Ile242Arg)
c.734T>G (p.Ile245Arg)
1g.196995835A>CCA422802770CFHR5c.471A>C (p.Ile157=)
n.795A>C
c.-24-279A>C (n.-24-279A>C)
c.726A>C (p.Ile242=)
c.735A>C (p.Ile245=)
1g.196995835A>GCA344004965CFHR5c.471A>G (p.Ile157Met)
n.795A>G
c.-24-279A>G (n.-24-279A>G)
c.726A>G (p.Ile242Met)
c.735A>G (p.Ile245Met)
1g.196995835A>TCA422802771CFHR5c.471A>T (p.Ile157=)
n.795A>T
c.-24-279A>T (n.-24-279A>T)
c.726A>T (p.Ile242=)
c.735A>T (p.Ile245=)
1g.196995836A>CCA344004967CFHR5c.472A>C (p.Ile158Leu)
n.796A>C
c.-24-278A>C (n.-24-278A>C)
c.727A>C (p.Ile243Leu)
c.736A>C (p.Ile246Leu)
1g.196995836A>GCA344004971CFHR5c.472A>G (p.Ile158Val)
n.796A>G
c.-24-278A>G (n.-24-278A>G)
c.727A>G (p.Ile243Val)
c.736A>G (p.Ile246Val)
 gnomAD v4
1g.196995836A>TCA344004972CFHR5c.472A>T (p.Ile158Leu)
n.796A>T
c.-24-278A>T (n.-24-278A>T)
c.727A>T (p.Ile243Leu)
c.736A>T (p.Ile246Leu)
1g.196995837T>ACA344004973CFHR5c.473T>A (p.Ile158Lys)
n.797T>A
c.-24-277T>A (n.-24-277T>A)
c.728T>A (p.Ile243Lys)
c.737T>A (p.Ile246Lys)
1g.196995837T>CCA1307844CFHR5c.473T>C (p.Ile158Thr)
n.797T>C
c.-24-277T>C (n.-24-277T>C)
c.728T>C (p.Ile243Thr)
c.737T>C (p.Ile246Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995837T>GCA344004975CFHR5c.473T>G (p.Ile158Arg)
n.797T>G
c.-24-277T>G (n.-24-277T>G)
c.728T>G (p.Ile243Arg)
c.737T>G (p.Ile246Arg)
1g.196995837T=CA1217885063CFHR5c.473T= (p.Ile158=)
n.797T=
c.-24-277T= (n.-24-277T=)
c.728T= (p.Ile243=)
c.737T= (p.Ile246=)
1g.196995838A>CCA422802777CFHR5c.474A>C (p.Ile158=)
n.798A>C
c.-24-276A>C (n.-24-276A>C)
c.729A>C (p.Ile243=)
c.738A>C (p.Ile246=)
1g.196995838A>GCA344004977CFHR5c.474A>G (p.Ile158Met)
n.798A>G
c.-24-276A>G (n.-24-276A>G)
c.729A>G (p.Ile243Met)
c.738A>G (p.Ile246Met)
1g.196995838A>TCA422802778CFHR5c.474A>T (p.Ile158=)
n.798A>T
c.-24-276A>T (n.-24-276A>T)
c.729A>T (p.Ile243=)
c.738A>T (p.Ile246=)
 gnomAD v4 COSMIC COSMIC
1g.196995839A>CCA344004979CFHR5c.475A>C (p.Asn159His)
n.799A>C
c.-24-275A>C (n.-24-275A>C)
c.730A>C (p.Asn244His)
c.739A>C (p.Asn247His)
1g.196995839A>GCA344004981CFHR5c.475A>G (p.Asn159Asp)
n.799A>G
c.-24-275A>G (n.-24-275A>G)
c.730A>G (p.Asn244Asp)
c.739A>G (p.Asn247Asp)
1g.196995839A>TCA344004983CFHR5c.475A>T (p.Asn159Tyr)
n.799A>T
c.-24-275A>T (n.-24-275A>T)
c.730A>T (p.Asn244Tyr)
c.739A>T (p.Asn247Tyr)
1g.196995840A>CCA344004985CFHR5c.476A>C (p.Asn159Thr)
n.800A>C
c.-24-274A>C (n.-24-274A>C)
c.731A>C (p.Asn244Thr)
c.740A>C (p.Asn247Thr)
 dbSNP
1g.196995840A>GCA344004987CFHR5c.476A>G (p.Asn159Ser)
n.800A>G
c.-24-274A>G (n.-24-274A>G)
c.731A>G (p.Asn244Ser)
c.740A>G (p.Asn247Ser)
1g.196995840A>TCA344004988CFHR5c.476A>T (p.Asn159Ile)
n.800A>T
c.-24-274A>T (n.-24-274A>T)
c.731A>T (p.Asn244Ile)
c.740A>T (p.Asn247Ile)
1g.196995841C>ACA344004991CFHR5c.477C>A (p.Asn159Lys)
n.801C>A
c.-24-273C>A (n.-24-273C>A)
c.732C>A (p.Asn244Lys)
c.741C>A (p.Asn247Lys)
 gnomAD v4
1g.196995841C=CA1140613711CFHR5c.477C= (p.Asn159=)
n.801C=
c.-24-273C= (n.-24-273C=)
c.732C= (p.Asn244=)
c.741C= (p.Asn247=)
1g.196995841C>GCA344004992CFHR5c.477C>G (p.Asn159Lys)
n.801C>G
c.-24-273C>G (n.-24-273C>G)
c.732C>G (p.Asn244Lys)
c.741C>G (p.Asn247Lys)
 gnomAD v4
1g.196995841C>TCA1307845CFHR5c.477C>T (p.Asn159=)
n.801C>T
c.-24-273C>T (n.-24-273C>T)
c.732C>T (p.Asn244=)
c.741C>T (p.Asn247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995842G>ACA1307847CFHR5c.478G>A (p.Gly160Arg)
n.802G>A
c.-24-272G>A (n.-24-272G>A)
c.733G>A (p.Gly245Arg)
c.742G>A (p.Gly248Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995842G>CCA344004994CFHR5c.478G>C (p.Gly160Arg)
n.802G>C
c.-24-272G>C (n.-24-272G>C)
c.733G>C (p.Gly245Arg)
c.742G>C (p.Gly248Arg)
1g.196995842G=CA1143507246CFHR5c.478G= (p.Gly160=)
n.802G=
c.-24-272G= (n.-24-272G=)
c.733G= (p.Gly245=)
c.742G= (p.Gly248=)
1g.196995842G>TCA1307846CFHR5c.478G>T (p.Gly160Trp)
n.802G>T
c.-24-272G>T (n.-24-272G>T)
c.733G>T (p.Gly245Trp)
c.742G>T (p.Gly248Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995844delCA2649656619CFHR5c.480del (p.Pro161LeufsTer21)
n.804del
c.-24-270del (n.-24-270del)
c.735del (p.Pro246LeufsTer21)
c.744del (p.Pro249LeufsTer21)
 gnomAD v4
1g.196995843G>ACA344005004CFHR5c.479G>A (p.Gly160Glu)
n.803G>A
c.-24-271G>A (n.-24-271G>A)
c.734G>A (p.Gly245Glu)
c.743G>A (p.Gly248Glu)
1g.196995843G>CCA344005006CFHR5c.479G>C (p.Gly160Ala)
n.803G>C
c.-24-271G>C (n.-24-271G>C)
c.734G>C (p.Gly245Ala)
c.743G>C (p.Gly248Ala)
1g.196995843G=CA1217885064CFHR5c.479G= (p.Gly160=)
n.803G=
c.-24-271G= (n.-24-271G=)
c.734G= (p.Gly245=)
c.743G= (p.Gly248=)
1g.196995843G>TCA35878317CFHR5c.479G>T (p.Gly160Val)
n.803G>T
c.-24-271G>T (n.-24-271G>T)
c.734G>T (p.Gly245Val)
c.743G>T (p.Gly248Val)
 dbSNP
1g.196995844G>ACA422802702CFHR5c.480G>A (p.Gly160=)
n.804G>A
c.-24-270G>A (n.-24-270G>A)
c.735G>A (p.Gly245=)
c.744G>A (p.Gly248=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.196995844G>CCA422802704CFHR5c.480G>C (p.Gly160=)
n.804G>C
c.-24-270G>C (n.-24-270G>C)
c.735G>C (p.Gly245=)
c.744G>C (p.Gly248=)
1g.196995844G=CA1217885065CFHR5c.480G= (p.Gly160=)
n.804G=
c.-24-270G= (n.-24-270G=)
c.735G= (p.Gly245=)
c.744G= (p.Gly248=)
1g.196995844G>TCA422802705CFHR5c.480G>T (p.Gly160=)
n.804G>T
c.-24-270G>T (n.-24-270G>T)
c.735G>T (p.Gly245=)
c.744G>T (p.Gly248=)
1g.196995845C>ACA344005009CFHR5c.481C>A (p.Pro161Thr)
n.805C>A
c.-24-269C>A (n.-24-269C>A)
c.736C>A (p.Pro246Thr)
c.745C>A (p.Pro249Thr)
1g.196995845C>GCA344005011CFHR5c.481C>G (p.Pro161Ala)
n.805C>G
c.-24-269C>G (n.-24-269C>G)
c.736C>G (p.Pro246Ala)
c.745C>G (p.Pro249Ala)
1g.196995845C>TCA344005012CFHR5c.481C>T (p.Pro161Ser)
n.805C>T
c.-24-269C>T (n.-24-269C>T)
c.736C>T (p.Pro246Ser)
c.745C>T (p.Pro249Ser)
1g.196995846C>ACA344005015CFHR5c.482C>A (p.Pro161His)
n.806C>A
c.-24-268C>A (n.-24-268C>A)
c.737C>A (p.Pro246His)
c.746C>A (p.Pro249His)
 gnomAD v4
1g.196995846C=CA1217885066CFHR5c.482C= (p.Pro161=)
n.806C=
c.-24-268C= (n.-24-268C=)
c.737C= (p.Pro246=)
c.746C= (p.Pro249=)
1g.196995846C>GCA344005016CFHR5c.482C>G (p.Pro161Arg)
n.806C>G
c.-24-268C>G (n.-24-268C>G)
c.737C>G (p.Pro246Arg)
c.746C>G (p.Pro249Arg)
 COSMIC COSMIC
1g.196995846C>TCA344005018CFHR5c.482C>T (p.Pro161Leu)
n.806C>T
c.-24-268C>T (n.-24-268C>T)
c.737C>T (p.Pro246Leu)
c.746C>T (p.Pro249Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.196995847T>ACA422802709CFHR5c.483T>A (p.Pro161=)
n.807T>A
c.-24-267T>A (n.-24-267T>A)
c.738T>A (p.Pro246=)
c.747T>A (p.Pro249=)
1g.196995847T>CCA422802711CFHR5c.483T>C (p.Pro161=)
n.807T>C
c.-24-267T>C (n.-24-267T>C)
c.738T>C (p.Pro246=)
c.747T>C (p.Pro249=)
1g.196995847T>GCA422802710CFHR5c.483T>G (p.Pro161=)
n.807T>G
c.-24-267T>G (n.-24-267T>G)
c.738T>G (p.Pro246=)
c.747T>G (p.Pro249=)
1g.196995848A=CA1217885067CFHR5c.484A= (p.Lys162=)
n.808A=
c.-24-266A= (n.-24-266A=)
c.739A= (p.Lys247=)
c.748A= (p.Lys250=)
1g.196995848A>CCA344005026CFHR5c.484A>C (p.Lys162Gln)
n.808A>C
c.-24-266A>C (n.-24-266A>C)
c.739A>C (p.Lys247Gln)
c.748A>C (p.Lys250Gln)
1g.196995848A>GCA1307848CFHR5c.484A>G (p.Lys162Glu)
n.808A>G
c.-24-266A>G (n.-24-266A>G)
c.739A>G (p.Lys247Glu)
c.748A>G (p.Lys250Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995848A>TCA344005022CFHR5c.484A>T (p.Lys162Ter)
n.808A>T
c.-24-266A>T (n.-24-266A>T)
c.739A>T (p.Lys247Ter)
c.748A>T (p.Lys250Ter)
1g.196995849A=CA1217885068CFHR5c.485A= (p.Lys162=)
n.809A=
c.-24-265A= (n.-24-265A=)
c.740A= (p.Lys247=)
c.749A= (p.Lys250=)
1g.196995849A>CCA1307849CFHR5c.485A>C (p.Lys162Thr)
n.809A>C
c.-24-265A>C (n.-24-265A>C)
c.740A>C (p.Lys247Thr)
c.749A>C (p.Lys250Thr)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC
1g.196995849A>GCA344005031CFHR5c.485A>G (p.Lys162Arg)
n.809A>G
c.-24-265A>G (n.-24-265A>G)
c.740A>G (p.Lys247Arg)
c.749A>G (p.Lys250Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.196995849A>TCA344005036CFHR5c.485A>T (p.Lys162Met)
n.809A>T
c.-24-265A>T (n.-24-265A>T)
c.740A>T (p.Lys247Met)
c.749A>T (p.Lys250Met)
1g.196995850G>ACA422802713CFHR5c.486G>A (p.Lys162=)
n.810G>A
c.-24-264G>A (n.-24-264G>A)
c.741G>A (p.Lys247=)
c.750G>A (p.Lys250=)
 dbSNP gnomAD v4
1g.196995850G>CCA344005037CFHR5c.486G>C (p.Lys162Asn)
n.810G>C
c.-24-264G>C (n.-24-264G>C)
c.741G>C (p.Lys247Asn)
c.750G>C (p.Lys250Asn)
1g.196995850G=CA1217885069CFHR5c.486G= (p.Lys162=)
n.810G=
c.-24-264G= (n.-24-264G=)
c.741G= (p.Lys247=)
c.750G= (p.Lys250=)
1g.196995850G>TCA10609192CFHR5c.486G>T (p.Lys162Asn)
n.810G>T
c.-24-264G>T (n.-24-264G>T)
c.741G>T (p.Lys247Asn)
c.750G>T (p.Lys250Asn)
 ClinVar dbSNP gnomAD v4
1g.196995851A=CA1217885070CFHR5c.487A= (p.Lys163=)
n.811A=
c.-24-263A= (n.-24-263A=)
c.742A= (p.Lys248=)
c.751A= (p.Lys251=)
1g.196995851A>CCA344005040CFHR5c.487A>C (p.Lys163Gln)
n.811A>C
c.-24-263A>C (n.-24-263A>C)
c.742A>C (p.Lys248Gln)
c.751A>C (p.Lys251Gln)
1g.196995851A>GCA344005044CFHR5c.487A>G (p.Lys163Glu)
n.811A>G
c.-24-263A>G (n.-24-263A>G)
c.742A>G (p.Lys248Glu)
c.751A>G (p.Lys251Glu)
1g.196995851A>TCA1307850CFHR5c.487A>T (p.Lys163Ter)
n.811A>T
c.-24-263A>T (n.-24-263A>T)
c.742A>T (p.Lys248Ter)
c.751A>T (p.Lys251Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995852A>CCA344005045CFHR5c.488A>C (p.Lys163Thr)
n.812A>C
c.-24-262A>C (n.-24-262A>C)
c.743A>C (p.Lys248Thr)
c.752A>C (p.Lys251Thr)
1g.196995852A>GCA344005046CFHR5c.488A>G (p.Lys163Arg)
n.812A>G
c.-24-262A>G (n.-24-262A>G)
c.743A>G (p.Lys248Arg)
c.752A>G (p.Lys251Arg)
1g.196995852A>TCA344005047CFHR5c.488A>T (p.Lys163Ile)
n.812A>T
c.-24-262A>T (n.-24-262A>T)
c.743A>T (p.Lys248Ile)
c.752A>T (p.Lys251Ile)
1g.196995853A>CCA344005048CFHR5c.489A>C (p.Lys163Asn)
n.813A>C
c.-24-261A>C (n.-24-261A>C)
c.744A>C (p.Lys248Asn)
c.753A>C (p.Lys251Asn)
1g.196995853A>GCA422802715CFHR5c.489A>G (p.Lys163=)
n.813A>G
c.-24-261A>G (n.-24-261A>G)
c.744A>G (p.Lys248=)
c.753A>G (p.Lys251=)
1g.196995853A>TCA344005049CFHR5c.489A>T (p.Lys163Asn)
n.813A>T
c.-24-261A>T (n.-24-261A>T)
c.744A>T (p.Lys248Asn)
c.753A>T (p.Lys251Asn)
1g.196995854A>CCA344005051CFHR5c.490A>C (p.Ile164Leu)
n.814A>C
c.-24-260A>C (n.-24-260A>C)
c.745A>C (p.Ile249Leu)
c.754A>C (p.Ile252Leu)
1g.196995854A>GCA344005054CFHR5c.490A>G (p.Ile164Val)
n.814A>G
c.-24-260A>G (n.-24-260A>G)
c.745A>G (p.Ile249Val)
c.754A>G (p.Ile252Val)
1g.196995854A>TCA344005055CFHR5c.490A>T (p.Ile164Leu)
n.814A>T
c.-24-260A>T (n.-24-260A>T)
c.745A>T (p.Ile249Leu)
c.754A>T (p.Ile252Leu)
1g.196995855T>ACA344005058CFHR5c.491T>A (p.Ile164Lys)
n.815T>A
c.-24-259T>A (n.-24-259T>A)
c.746T>A (p.Ile249Lys)
c.755T>A (p.Ile252Lys)
1g.196995855T>CCA35878342CFHR5c.491T>C (p.Ile164Thr)
n.815T>C
c.-24-259T>C (n.-24-259T>C)
c.746T>C (p.Ile249Thr)
c.755T>C (p.Ile252Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995855T>GCA344005060CFHR5c.491T>G (p.Ile164Arg)
n.815T>G
c.-24-259T>G (n.-24-259T>G)
c.746T>G (p.Ile249Arg)
c.755T>G (p.Ile252Arg)
1g.196995855T=CA1217885071CFHR5c.491T= (p.Ile164=)
n.815T=
c.-24-259T= (n.-24-259T=)
c.746T= (p.Ile249=)
c.755T= (p.Ile252=)
1g.196995856A=CA1217885072CFHR5c.492A= (p.Ile164=)
n.816A=
c.-24-258A= (n.-24-258A=)
c.747A= (p.Ile249=)
c.756A= (p.Ile252=)
1g.196995856A>CCA422802718CFHR5c.492A>C (p.Ile164=)
n.816A>C
c.-24-258A>C (n.-24-258A>C)
c.747A>C (p.Ile249=)
c.756A>C (p.Ile252=)
1g.196995856A>GCA344005063CFHR5c.492A>G (p.Ile164Met)
n.816A>G
c.-24-258A>G (n.-24-258A>G)
c.747A>G (p.Ile249Met)
c.756A>G (p.Ile252Met)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.196995856A>TCA422802719CFHR5c.492A>T (p.Ile164=)
n.816A>T
c.-24-258A>T (n.-24-258A>T)
c.747A>T (p.Ile249=)
c.756A>T (p.Ile252=)
1g.196995857C>ACA344005071CFHR5c.493C>A (p.Gln165Lys)
n.817C>A
c.-24-257C>A (n.-24-257C>A)
c.748C>A (p.Gln250Lys)
c.757C>A (p.Gln253Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.196995857C=CA1217885074CFHR5c.493C= (p.Gln165=)
n.817C=
c.-24-257C= (n.-24-257C=)
c.748C= (p.Gln250=)
c.757C= (p.Gln253=)
1g.196995857C>GCA344005068CFHR5c.493C>G (p.Gln165Glu)
n.817C>G
c.-24-257C>G (n.-24-257C>G)
c.748C>G (p.Gln250Glu)
c.757C>G (p.Gln253Glu)
 gnomAD v4
1g.196995857C>TCA344005066CFHR5c.493C>T (p.Gln165Ter)
n.817C>T
c.-24-257C>T (n.-24-257C>T)
c.748C>T (p.Gln250Ter)
c.757C>T (p.Gln253Ter)
 gnomAD v4
1g.196995857_196995860delinsCAATCA1217885073CFHR5c.493_496delinsCAAT (p.Gln165=)
n.817_820delinsCAAT
c.-24-257_-24-254delinsCAAT (n.-24-257_-24-254delinsCAAT)
c.748_751delinsCAAT (p.Gln250=)
c.757_760delinsCAAT (p.Gln253=)
1g.196995858A>CCA344005073CFHR5c.494A>C (p.Gln165Pro)
n.818A>C
c.-24-256A>C (n.-24-256A>C)
c.749A>C (p.Gln250Pro)
c.758A>C (p.Gln253Pro)
1g.196995858A>GCA344005077CFHR5c.494A>G (p.Gln165Arg)
n.818A>G
c.-24-256A>G (n.-24-256A>G)
c.749A>G (p.Gln250Arg)
c.758A>G (p.Gln253Arg)
 gnomAD v4
1g.196995858A>TCA344005075CFHR5c.494A>T (p.Gln165Leu)
n.818A>T
c.-24-256A>T (n.-24-256A>T)
c.749A>T (p.Gln250Leu)
c.758A>T (p.Gln253Leu)
1g.196995858_196995860delCA528534568CFHR5c.494_496del (p.Gln165_Cys166delinsArg)
n.818_820del
c.-24-256_-24-254del (n.-24-256_-24-254del)
c.749_751del (p.Gln250_Cys251delinsArg)
c.758_760del (p.Gln253_Cys254delinsArg)
 dbSNP gnomAD v2 gnomAD v4
1g.196995859A=CA1144193392CFHR5c.495A= (p.Gln165=)
n.819A=
c.-24-255A= (n.-24-255A=)
c.750A= (p.Gln250=)
c.759A= (p.Gln253=)
1g.196995859A>CCA344005080CFHR5c.495A>C (p.Gln165His)
n.819A>C
c.-24-255A>C (n.-24-255A>C)
c.750A>C (p.Gln250His)
c.759A>C (p.Gln253His)
1g.196995859A>GCA35878345CFHR5c.495A>G (p.Gln165=)
n.819A>G
c.-24-255A>G (n.-24-255A>G)
c.750A>G (p.Gln250=)
c.759A>G (p.Gln253=)
 dbSNP gnomAD v3 gnomAD v4
1g.196995859A>TCA344005082CFHR5c.495A>T (p.Gln165His)
n.819A>T
c.-24-255A>T (n.-24-255A>T)
c.750A>T (p.Gln250His)
c.759A>T (p.Gln253His)
1g.196995860T>ACA344005086CFHR5c.496T>A (p.Cys166Ser)
n.820T>A
c.-24-254T>A (n.-24-254T>A)
c.751T>A (p.Cys251Ser)
c.760T>A (p.Cys254Ser)
1g.196995860T>CCA1307851CFHR5c.496T>C (p.Cys166Arg)
n.820T>C
c.-24-254T>C (n.-24-254T>C)
c.751T>C (p.Cys251Arg)
c.760T>C (p.Cys254Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995860T>GCA344005088CFHR5c.496T>G (p.Cys166Gly)
n.820T>G
c.-24-254T>G (n.-24-254T>G)
c.751T>G (p.Cys251Gly)
c.760T>G (p.Cys254Gly)
1g.196995860T=CA1217885075CFHR5c.496T= (p.Cys166=)
n.820T=
c.-24-254T= (n.-24-254T=)
c.751T= (p.Cys251=)
c.760T= (p.Cys254=)
1g.196995861G>ACA344005091CFHR5c.497G>A (p.Cys166Tyr)
n.821G>A
c.-24-253G>A (n.-24-253G>A)
c.752G>A (p.Cys251Tyr)
c.761G>A (p.Cys254Tyr)
1g.196995861G>CCA344005095CFHR5c.497G>C (p.Cys166Ser)
n.821G>C
c.-24-253G>C (n.-24-253G>C)
c.752G>C (p.Cys251Ser)
c.761G>C (p.Cys254Ser)
 gnomAD v4
1g.196995861G>TCA344005093CFHR5c.497G>T (p.Cys166Phe)
n.821G>T
c.-24-253G>T (n.-24-253G>T)
c.752G>T (p.Cys251Phe)
c.761G>T (p.Cys254Phe)
1g.196995862T>ACA344005097CFHR5c.498T>A (p.Cys166Ter)
n.822T>A
c.-24-252T>A (n.-24-252T>A)
c.753T>A (p.Cys251Ter)
c.762T>A (p.Cys254Ter)
 COSMIC COSMIC
1g.196995862T>CCA422802726CFHR5c.498T>C (p.Cys166=)
n.822T>C
c.-24-252T>C (n.-24-252T>C)
c.753T>C (p.Cys251=)
c.762T>C (p.Cys254=)
 dbSNP gnomAD v2 gnomAD v4
1g.196995862T>GCA344005099CFHR5c.498T>G (p.Cys166Trp)
n.822T>G
c.-24-252T>G (n.-24-252T>G)
c.753T>G (p.Cys251Trp)
c.762T>G (p.Cys254Trp)
1g.196995862T=CA1217885076CFHR5c.498T= (p.Cys166=)
n.822T=
c.-24-252T= (n.-24-252T=)
c.753T= (p.Cys251=)
c.762T= (p.Cys254=)
1g.196995863G>ACA344005101CFHR5c.499G>A (p.Val167Met)
n.823G>A
c.-24-251G>A (n.-24-251G>A)
c.754G>A (p.Val252Met)
c.763G>A (p.Val255Met)
 gnomAD v4
1g.196995863G>CCA344005104CFHR5c.499G>C (p.Val167Leu)
n.823G>C
c.-24-251G>C (n.-24-251G>C)
c.754G>C (p.Val252Leu)
c.763G>C (p.Val255Leu)
 gnomAD v4
1g.196995863G>TCA344005109CFHR5c.499G>T (p.Val167Leu)
n.823G>T
c.-24-251G>T (n.-24-251G>T)
c.754G>T (p.Val252Leu)
c.763G>T (p.Val255Leu)
1g.196995864T>ACA344005112CFHR5c.500T>A (p.Val167Glu)
n.824T>A
c.-24-250T>A (n.-24-250T>A)
c.755T>A (p.Val252Glu)
c.764T>A (p.Val255Glu)
1g.196995864T>CCA344005114CFHR5c.500T>C (p.Val167Ala)
n.824T>C
c.-24-250T>C (n.-24-250T>C)
c.755T>C (p.Val252Ala)
c.764T>C (p.Val255Ala)
1g.196995864T>GCA344005116CFHR5c.500T>G (p.Val167Gly)
n.824T>G
c.-24-250T>G (n.-24-250T>G)
c.755T>G (p.Val252Gly)
c.764T>G (p.Val255Gly)
1g.196995865G>ACA1307852CFHR5c.501G>A (p.Val167=)
n.825G>A
c.-24-249G>A (n.-24-249G>A)
c.756G>A (p.Val252=)
c.765G>A (p.Val255=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995865G>CCA422802731CFHR5c.501G>C (p.Val167=)
n.825G>C
c.-24-249G>C (n.-24-249G>C)
c.756G>C (p.Val252=)
c.765G>C (p.Val255=)
 gnomAD v4
1g.196995865G=CA1217885077CFHR5c.501G= (p.Val167=)
n.825G=
c.-24-249G= (n.-24-249G=)
c.756G= (p.Val252=)
c.765G= (p.Val255=)
1g.196995865G>TCA422802732CFHR5c.501G>T (p.Val167=)
n.825G>T
c.-24-249G>T (n.-24-249G>T)
c.756G>T (p.Val252=)
c.765G>T (p.Val255=)
1g.196995866G>ACA344005122CFHR5c.502G>A (p.Asp168Asn)
n.826G>A
c.-24-248G>A (n.-24-248G>A)
c.757G>A (p.Asp253Asn)
c.766G>A (p.Asp256Asn)
1g.196995866G>CCA344005120CFHR5c.502G>C (p.Asp168His)
n.826G>C
c.-24-248G>C (n.-24-248G>C)
c.757G>C (p.Asp253His)
c.766G>C (p.Asp256His)
1g.196995866G>TCA344005119CFHR5c.502G>T (p.Asp168Tyr)
n.826G>T
c.-24-248G>T (n.-24-248G>T)
c.757G>T (p.Asp253Tyr)
c.766G>T (p.Asp256Tyr)
1g.196995867A=CA1217885078CFHR5c.503A= (p.Asp168=)
n.827A=
c.-24-247A= (n.-24-247A=)
c.758A= (p.Asp253=)
c.767A= (p.Asp256=)
1g.196995867A>CCA344005125CFHR5c.503A>C (p.Asp168Ala)
n.827A>C
c.-24-247A>C (n.-24-247A>C)
c.758A>C (p.Asp253Ala)
c.767A>C (p.Asp256Ala)
1g.196995867A>GCA344005130CFHR5c.503A>G (p.Asp168Gly)
n.827A>G
c.-24-247A>G (n.-24-247A>G)
c.758A>G (p.Asp253Gly)
c.767A>G (p.Asp256Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.196995867A>TCA344005131CFHR5c.503A>T (p.Asp168Val)
n.827A>T
c.-24-247A>T (n.-24-247A>T)
c.758A>T (p.Asp253Val)
c.767A>T (p.Asp256Val)
1g.196995868T>ACA344005133CFHR5c.504T>A (p.Asp168Glu)
n.828T>A
c.-24-246T>A (n.-24-246T>A)
c.759T>A (p.Asp253Glu)
c.768T>A (p.Asp256Glu)
1g.196995868T>CCA422802740CFHR5c.504T>C (p.Asp168=)
n.828T>C
c.-24-246T>C (n.-24-246T>C)
c.759T>C (p.Asp253=)
c.768T>C (p.Asp256=)
 gnomAD v4
1g.196995868T>GCA1307853CFHR5c.504T>G (p.Asp168Glu)
n.828T>G
c.-24-246T>G (n.-24-246T>G)
c.759T>G (p.Asp253Glu)
c.768T>G (p.Asp256Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995868T=CA1141718287CFHR5c.504T= (p.Asp168=)
n.828T=
c.-24-246T= (n.-24-246T=)
c.759T= (p.Asp253=)
c.768T= (p.Asp256=)
1g.196995869G>ACA1307854CFHR5c.505G>A (p.Gly169Arg)
n.829G>A
c.-24-245G>A (n.-24-245G>A)
c.760G>A (p.Gly254Arg)
c.769G>A (p.Gly257Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995869G>CCA344005138CFHR5c.505G>C (p.Gly169Arg)
n.829G>C
c.-24-245G>C (n.-24-245G>C)
c.760G>C (p.Gly254Arg)
c.769G>C (p.Gly257Arg)
1g.196995869G=CA1143485248CFHR5c.505G= (p.Gly169=)
n.829G=
c.-24-245G= (n.-24-245G=)
c.760G= (p.Gly254=)
c.769G= (p.Gly257=)
1g.196995869G>TCA344005140CFHR5c.505G>T (p.Gly169Ter)
n.829G>T
c.-24-245G>T (n.-24-245G>T)
c.760G>T (p.Gly254Ter)
c.769G>T (p.Gly257Ter)
 COSMIC COSMIC
1g.196995870G>ACA344005141CFHR5c.506G>A (p.Gly169Glu)
n.830G>A
c.-24-244G>A (n.-24-244G>A)
c.761G>A (p.Gly254Glu)
c.770G>A (p.Gly257Glu)
 gnomAD v4
1g.196995870G>CCA344005142CFHR5c.506G>C (p.Gly169Ala)
n.830G>C
c.-24-244G>C (n.-24-244G>C)
c.761G>C (p.Gly254Ala)
c.770G>C (p.Gly257Ala)
1g.196995870G>TCA344005144CFHR5c.506G>T (p.Gly169Val)
n.830G>T
c.-24-244G>T (n.-24-244G>T)
c.761G>T (p.Gly254Val)
c.770G>T (p.Gly257Val)
1g.196995870_196995871delinsGACA1217885079CFHR5c.506_507delinsGA (p.Gly169=)
n.830_831delinsGA
c.-24-244_-24-243delinsGA (n.-24-244_-24-243delinsGA)
c.761_762delinsGA (p.Gly254=)
c.770_771delinsGA (p.Gly257=)
1g.196995871delCA528534569CFHR5c.507del (p.Glu170AsnfsTer12)
n.831del
c.-24-243del (n.-24-243del)
c.762del (p.Glu255AsnfsTer12)
c.771del (p.Glu258AsnfsTer12)
 dbSNP gnomAD v2 gnomAD v4
1g.196995871A>CCA422802742CFHR5c.507A>C (p.Gly169=)
n.831A>C
c.-24-243A>C (n.-24-243A>C)
c.762A>C (p.Gly254=)
c.771A>C (p.Gly257=)
1g.196995871A>GCA422802743CFHR5c.507A>G (p.Gly169=)
n.831A>G
c.-24-243A>G (n.-24-243A>G)
c.762A>G (p.Gly254=)
c.771A>G (p.Gly257=)
1g.196995871A>TCA422802744CFHR5c.507A>T (p.Gly169=)
n.831A>T
c.-24-243A>T (n.-24-243A>T)
c.762A>T (p.Gly254=)
c.771A>T (p.Gly257=)
1g.196995872G>ACA344005150CFHR5c.508G>A (p.Glu170Lys)
n.832G>A
c.-24-242G>A (n.-24-242G>A)
c.763G>A (p.Glu255Lys)
c.772G>A (p.Glu258Lys)
 COSMIC COSMIC
1g.196995872G>CCA344005152CFHR5c.508G>C (p.Glu170Gln)
n.832G>C
c.-24-242G>C (n.-24-242G>C)
c.763G>C (p.Glu255Gln)
c.772G>C (p.Glu258Gln)
1g.196995872G>TCA344005148CFHR5c.508G>T (p.Glu170Ter)
n.832G>T
c.-24-242G>T (n.-24-242G>T)
c.763G>T (p.Glu255Ter)
c.772G>T (p.Glu258Ter)
1g.196995873A>CCA344005155CFHR5c.509A>C (p.Glu170Ala)
n.833A>C
c.-24-241A>C (n.-24-241A>C)
c.764A>C (p.Glu255Ala)
c.773A>C (p.Glu258Ala)
1g.196995873A>GCA344005158CFHR5c.509A>G (p.Glu170Gly)
n.833A>G
c.-24-241A>G (n.-24-241A>G)
c.764A>G (p.Glu255Gly)
c.773A>G (p.Glu258Gly)
1g.196995873A>TCA344005160CFHR5c.509A>T (p.Glu170Val)
n.833A>T
c.-24-241A>T (n.-24-241A>T)
c.764A>T (p.Glu255Val)
c.773A>T (p.Glu258Val)
1g.196995874A=CA1217885080CFHR5c.510A= (p.Glu170=)
n.834A=
c.-24-240A= (n.-24-240A=)
c.765A= (p.Glu255=)
c.774A= (p.Glu258=)
1g.196995874A>CCA344005161CFHR5c.510A>C (p.Glu170Asp)
n.834A>C
c.-24-240A>C (n.-24-240A>C)
c.765A>C (p.Glu255Asp)
c.774A>C (p.Glu258Asp)
1g.196995874A>GCA422802747CFHR5c.510A>G (p.Glu170=)
n.834A>G
c.-24-240A>G (n.-24-240A>G)
c.765A>G (p.Glu255=)
c.774A>G (p.Glu258=)
 dbSNP
1g.196995874A>TCA344005163CFHR5c.510A>T (p.Glu170Asp)
n.834A>T
c.-24-240A>T (n.-24-240A>T)
c.765A>T (p.Glu255Asp)
c.774A>T (p.Glu258Asp)
1g.196995875T>ACA344005170CFHR5c.511T>A (p.Trp171Arg)
n.835T>A
c.-24-239T>A (n.-24-239T>A)
c.766T>A (p.Trp256Arg)
c.775T>A (p.Trp259Arg)
1g.196995875T>CCA344005171CFHR5c.511T>C (p.Trp171Arg)
n.835T>C
c.-24-239T>C (n.-24-239T>C)
c.766T>C (p.Trp256Arg)
c.775T>C (p.Trp259Arg)
1g.196995875T>GCA344005173CFHR5c.511T>G (p.Trp171Gly)
n.835T>G
c.-24-239T>G (n.-24-239T>G)
c.766T>G (p.Trp256Gly)
c.775T>G (p.Trp259Gly)
 gnomAD v4
1g.196995876G>ACA35878379CFHR5c.512G>A (p.Trp171Ter)
n.836G>A
c.-24-238G>A (n.-24-238G>A)
c.767G>A (p.Trp256Ter)
c.776G>A (p.Trp259Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995876G>CCA344005176CFHR5c.512G>C (p.Trp171Ser)
n.836G>C
c.-24-238G>C (n.-24-238G>C)
c.767G>C (p.Trp256Ser)
c.776G>C (p.Trp259Ser)
1g.196995876G=CA1144012646CFHR5c.512G= (p.Trp171=)
n.836G=
c.-24-238G= (n.-24-238G=)
c.767G= (p.Trp256=)
c.776G= (p.Trp259=)
1g.196995876G>TCA344005178CFHR5c.512G>T (p.Trp171Leu)
n.836G>T
c.-24-238G>T (n.-24-238G>T)
c.767G>T (p.Trp256Leu)
c.776G>T (p.Trp259Leu)
 gnomAD v4
1g.196995877G>ACA344005185CFHR5c.513G>A (p.Trp171Ter)
n.837G>A
c.-24-237G>A (n.-24-237G>A)
c.768G>A (p.Trp256Ter)
c.777G>A (p.Trp259Ter)
1g.196995877G>CCA344005183CFHR5c.513G>C (p.Trp171Cys)
n.837G>C
c.-24-237G>C (n.-24-237G>C)
c.768G>C (p.Trp256Cys)
c.777G>C (p.Trp259Cys)
1g.196995877G=CA1143447541CFHR5c.513G= (p.Trp171=)
n.837G=
c.-24-237G= (n.-24-237G=)
c.768G= (p.Trp256=)
c.777G= (p.Trp259=)
1g.196995877G>TCA35878389CFHR5c.513G>T (p.Trp171Cys)
n.837G>T
c.-24-237G>T (n.-24-237G>T)
c.768G>T (p.Trp256Cys)
c.777G>T (p.Trp259Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.196995877_196995880delinsGACACA1217885081CFHR5c.513_516delinsGACA (p.Trp171=)
n.837_840delinsGACA
c.-24-237_-24-234delinsGACA (n.-24-237_-24-234delinsGACA)
c.768_771delinsGACA (p.Trp256=)
c.777_780delinsGACA (p.Trp259=)
1g.196995878A=CA1217885082CFHR5c.514A= (p.Thr172=)
n.838A=
c.-24-236A= (n.-24-236A=)
c.769A= (p.Thr257=)
c.778A= (p.Thr260=)
1g.196995878A>CCA344005187CFHR5c.514A>C (p.Thr172Pro)
n.838A>C
c.-24-236A>C (n.-24-236A>C)
c.769A>C (p.Thr257Pro)
c.778A>C (p.Thr260Pro)
1g.196995878A>GCA1307855CFHR5c.514A>G (p.Thr172Ala)
n.838A>G
c.-24-236A>G (n.-24-236A>G)
c.769A>G (p.Thr257Ala)
c.778A>G (p.Thr260Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995878A>TCA344005190CFHR5c.514A>T (p.Thr172Ser)
n.838A>T
c.-24-236A>T (n.-24-236A>T)
c.769A>T (p.Thr257Ser)
c.778A>T (p.Thr260Ser)
1g.196995880_196995882delCA422802757CFHR5c.516_518del (p.Thr173del)
n.840_842del
c.-24-234_-24-232del (n.-24-234_-24-232del)
c.771_773del (p.Thr258del)
c.780_782del (p.Thr261del)
 dbSNP
1g.196995879C>ACA1307856CFHR5c.515C>A (p.Thr172Lys)
n.839C>A
c.-24-235C>A (n.-24-235C>A)
c.770C>A (p.Thr257Lys)
c.779C>A (p.Thr260Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995879C=CA1148264793CFHR5c.515C= (p.Thr172=)
n.839C=
c.-24-235C= (n.-24-235C=)
c.770C= (p.Thr257=)
c.779C= (p.Thr260=)
1g.196995879C>GCA344005193CFHR5c.515C>G (p.Thr172Arg)
n.839C>G
c.-24-235C>G (n.-24-235C>G)
c.770C>G (p.Thr257Arg)
c.779C>G (p.Thr260Arg)
1g.196995879C>TCA344005194CFHR5c.515C>T (p.Thr172Ile)
n.839C>T
c.-24-235C>T (n.-24-235C>T)
c.770C>T (p.Thr257Ile)
c.779C>T (p.Thr260Ile)
1g.196995880A=CA1143726170CFHR5c.516A= (p.Thr172=)
n.840A=
c.-24-234A= (n.-24-234A=)
c.771A= (p.Thr257=)
c.780A= (p.Thr260=)
1g.196995880A>CCA422802760CFHR5c.516A>C (p.Thr172=)
n.840A>C
c.-24-234A>C (n.-24-234A>C)
c.771A>C (p.Thr257=)
c.780A>C (p.Thr260=)
1g.196995880A>GCA1307857CFHR5c.516A>G (p.Thr172=)
n.840A>G
c.-24-234A>G (n.-24-234A>G)
c.771A>G (p.Thr257=)
c.780A>G (p.Thr260=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995880A>TCA422802761CFHR5c.516A>T (p.Thr172=)
n.840A>T
c.-24-234A>T (n.-24-234A>T)
c.771A>T (p.Thr257=)
c.780A>T (p.Thr260=)
1g.196995881A>CCA344005195CFHR5c.517A>C (p.Thr173Pro)
n.841A>C
c.-24-233A>C (n.-24-233A>C)
c.772A>C (p.Thr258Pro)
c.781A>C (p.Thr261Pro)
 gnomAD v4
1g.196995881A>GCA344005196CFHR5c.517A>G (p.Thr173Ala)
n.841A>G
c.-24-233A>G (n.-24-233A>G)
c.772A>G (p.Thr258Ala)
c.781A>G (p.Thr261Ala)
1g.196995881A>TCA344005197CFHR5c.517A>T (p.Thr173Ser)
n.841A>T
c.-24-233A>T (n.-24-233A>T)
c.772A>T (p.Thr258Ser)
c.781A>T (p.Thr261Ser)
1g.196995882C>ACA344005199CFHR5c.518C>A (p.Thr173Asn)
n.842C>A
c.-24-232C>A (n.-24-232C>A)
c.773C>A (p.Thr258Asn)
c.782C>A (p.Thr261Asn)
1g.196995882C=CA1217885083CFHR5c.518C= (p.Thr173=)
n.842C=
c.-24-232C= (n.-24-232C=)
c.773C= (p.Thr258=)
c.782C= (p.Thr261=)
1g.196995882C>GCA344005201CFHR5c.518C>G (p.Thr173Ser)
n.842C>G
c.-24-232C>G (n.-24-232C>G)
c.773C>G (p.Thr258Ser)
c.782C>G (p.Thr261Ser)
1g.196995882C>TCA1307858CFHR5c.518C>T (p.Thr173Ile)
n.842C>T
c.-24-232C>T (n.-24-232C>T)
c.773C>T (p.Thr258Ile)
c.782C>T (p.Thr261Ile)
 dbSNP ExAC gnomAD v2
1g.196995883T>ACA422802763CFHR5c.519T>A (p.Thr173=)
n.843T>A
c.-24-231T>A (n.-24-231T>A)
c.774T>A (p.Thr258=)
c.783T>A (p.Thr261=)
1g.196995883T>CCA422802764CFHR5c.519T>C (p.Thr173=)
n.843T>C
c.-24-231T>C (n.-24-231T>C)
c.774T>C (p.Thr258=)
c.783T>C (p.Thr261=)
 gnomAD v4
1g.196995883T>GCA422802765CFHR5c.519T>G (p.Thr173=)
n.843T>G
c.-24-231T>G (n.-24-231T>G)
c.774T>G (p.Thr258=)
c.783T>G (p.Thr261=)
1g.196995885dupCA1217885084CFHR5c.521dup (p.Leu174PhefsTer6)
n.845dup
c.-24-229dup (n.-24-229dup)
c.776dup (p.Leu259PhefsTer6)
c.785dup (p.Leu262PhefsTer6)
 dbSNP
1g.196995884T>ACA344005206CFHR5c.520T>A (p.Leu174Ile)
n.844T>A
c.-24-230T>A (n.-24-230T>A)
c.775T>A (p.Leu259Ile)
c.784T>A (p.Leu262Ile)
1g.196995884T>CCA422802769CFHR5c.520T>C (p.Leu174=)
n.844T>C
c.-24-230T>C (n.-24-230T>C)
c.775T>C (p.Leu259=)
c.784T>C (p.Leu262=)
1g.196995884T>GCA344005203CFHR5c.520T>G (p.Leu174Val)
n.844T>G
c.-24-230T>G (n.-24-230T>G)
c.775T>G (p.Leu259Val)
c.784T>G (p.Leu262Val)
1g.196995885T>ACA344005209CFHR5c.521T>A (p.Leu174Ter)
n.845T>A
c.-24-229T>A (n.-24-229T>A)
c.776T>A (p.Leu259Ter)
c.785T>A (p.Leu262Ter)
1g.196995885T>CCA344005212CFHR5c.521T>C (p.Leu174Ser)
n.845T>C
c.-24-229T>C (n.-24-229T>C)
c.776T>C (p.Leu259Ser)
c.785T>C (p.Leu262Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995885T>GCA344005210CFHR5c.521T>G (p.Leu174Ter)
n.845T>G
c.-24-229T>G (n.-24-229T>G)
c.776T>G (p.Leu259Ter)
c.785T>G (p.Leu262Ter)
1g.196995885T=CA1217885085CFHR5c.521T= (p.Leu174=)
n.845T=
c.-24-229T= (n.-24-229T=)
c.776T= (p.Leu259=)
c.785T= (p.Leu262=)
1g.196995886A>CCA344005214CFHR5c.522A>C (p.Leu174Phe)
n.846A>C
c.-24-228A>C (n.-24-228A>C)
c.777A>C (p.Leu259Phe)
c.786A>C (p.Leu262Phe)
1g.196995886A>GCA422802772CFHR5c.522A>G (p.Leu174=)
n.846A>G
c.-24-228A>G (n.-24-228A>G)
c.777A>G (p.Leu259=)
c.786A>G (p.Leu262=)
 COSMIC COSMIC
1g.196995886A>TCA344005215CFHR5c.522A>T (p.Leu174Phe)
n.846A>T
c.-24-228A>T (n.-24-228A>T)
c.777A>T (p.Leu259Phe)
c.786A>T (p.Leu262Phe)
1g.196995886_196995887delinsACCA1217885086CFHR5c.522_523delinsAC (p.Leu174=)
n.846_847delinsAC
c.-24-228_-24-227delinsAC (n.-24-228_-24-227delinsAC)
c.777_778delinsAC (p.Leu259=)
c.786_787delinsAC (p.Leu262=)
1g.196995887C>ACA344005216CFHR5c.523C>A (p.Pro175Thr)
n.847C>A
c.-24-227C>A (n.-24-227C>A)
c.778C>A (p.Pro260Thr)
c.787C>A (p.Pro263Thr)
1g.196995887C>GCA344005217CFHR5c.523C>G (p.Pro175Ala)
n.847C>G
c.-24-227C>G (n.-24-227C>G)
c.778C>G (p.Pro260Ala)
c.787C>G (p.Pro263Ala)
1g.196995887C>TCA344005218CFHR5c.523C>T (p.Pro175Ser)
n.847C>T
c.-24-227C>T (n.-24-227C>T)
c.778C>T (p.Pro260Ser)
c.787C>T (p.Pro263Ser)
1g.196995889delCA1217885087CFHR5c.525del (p.Thr176LeufsTer6)
n.849del
c.-24-225del (n.-24-225del)
c.780del (p.Thr261LeufsTer6)
c.789del (p.Thr264LeufsTer6)
 dbSNP
1g.196995888C>ACA344005219CFHR5c.524C>A (p.Pro175His)
n.848C>A
c.-24-226C>A (n.-24-226C>A)
c.779C>A (p.Pro260His)
c.788C>A (p.Pro263His)
 gnomAD v4
1g.196995888C=CA1149043178CFHR5c.524C= (p.Pro175=)
n.848C=
c.-24-226C= (n.-24-226C=)
c.779C= (p.Pro260=)
c.788C= (p.Pro263=)
1g.196995888C>GCA344005220CFHR5c.524C>G (p.Pro175Arg)
n.848C>G
c.-24-226C>G (n.-24-226C>G)
c.779C>G (p.Pro260Arg)
c.788C>G (p.Pro263Arg)
1g.196995888C>TCA1307859CFHR5c.524C>T (p.Pro175Leu)
n.848C>T
c.-24-226C>T (n.-24-226C>T)
c.779C>T (p.Pro260Leu)
c.788C>T (p.Pro263Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995889C>ACA422802774CFHR5c.525C>A (p.Pro175=)
n.849C>A
c.-24-225C>A (n.-24-225C>A)
c.780C>A (p.Pro260=)
c.789C>A (p.Pro263=)
1g.196995889C=CA1217885088CFHR5c.525C= (p.Pro175=)
n.849C=
c.-24-225C= (n.-24-225C=)
c.780C= (p.Pro260=)
c.789C= (p.Pro263=)
1g.196995889C>GCA422802775CFHR5c.525C>G (p.Pro175=)
n.849C>G
c.-24-225C>G (n.-24-225C>G)
c.780C>G (p.Pro260=)
c.789C>G (p.Pro263=)
1g.196995889C>TCA422802776CFHR5c.525C>T (p.Pro175=)
n.849C>T
c.-24-225C>T (n.-24-225C>T)
c.780C>T (p.Pro260=)
c.789C>T (p.Pro263=)
 dbSNP
1g.196995890A>CCA344005221CFHR5c.526A>C (p.Thr176Pro)
n.850A>C
c.-24-224A>C (n.-24-224A>C)
c.781A>C (p.Thr261Pro)
c.790A>C (p.Thr264Pro)
1g.196995890A>GCA344005222CFHR5c.526A>G (p.Thr176Ala)
n.850A>G
c.-24-224A>G (n.-24-224A>G)
c.781A>G (p.Thr261Ala)
c.790A>G (p.Thr264Ala)
1g.196995890A>TCA344005223CFHR5c.526A>T (p.Thr176Ser)
n.850A>T
c.-24-224A>T (n.-24-224A>T)
c.781A>T (p.Thr261Ser)
c.790A>T (p.Thr264Ser)
1g.196995890_196995891delinsACCA1217885089CFHR5c.526_527delinsAC (p.Thr176=)
n.850_851delinsAC
c.-24-224_-24-223delinsAC (n.-24-224_-24-223delinsAC)
c.781_782delinsAC (p.Thr261=)
c.790_791delinsAC (p.Thr264=)
1g.196995891delCA1217885090CFHR5c.527del (p.Thr176IlefsTer6)
n.851del
c.-24-223del (n.-24-223del)
c.782del (p.Thr261IlefsTer6)
c.791del (p.Thr264IlefsTer6)
 dbSNP
1g.196995891C>ACA344005226CFHR5c.527C>A (p.Thr176Asn)
n.851C>A
c.-24-223C>A (n.-24-223C>A)
c.782C>A (p.Thr261Asn)
c.791C>A (p.Thr264Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.196995891C=CA1217885091CFHR5c.527C= (p.Thr176=)
n.851C=
c.-24-223C= (n.-24-223C=)
c.782C= (p.Thr261=)
c.791C= (p.Thr264=)
1g.196995891C>GCA344005224CFHR5c.527C>G (p.Thr176Ser)
n.851C>G
c.-24-223C>G (n.-24-223C>G)
c.782C>G (p.Thr261Ser)
c.791C>G (p.Thr264Ser)
1g.196995891C>TCA344005225CFHR5c.527C>T (p.Thr176Ile)
n.851C>T
c.-24-223C>T (n.-24-223C>T)
c.782C>T (p.Thr261Ile)
c.791C>T (p.Thr264Ile)
1g.196995892T>ACA422802779CFHR5c.528T>A (p.Thr176=)
n.852T>A
c.-24-222T>A (n.-24-222T>A)
c.783T>A (p.Thr261=)
c.792T>A (p.Thr264=)
1g.196995892T>CCA422802780CFHR5c.528T>C (p.Thr176=)
n.852T>C
c.-24-222T>C (n.-24-222T>C)
c.783T>C (p.Thr261=)
c.792T>C (p.Thr264=)
 dbSNP gnomAD v2 gnomAD v4
1g.196995892T>GCA422802781CFHR5c.528T>G (p.Thr176=)
n.852T>G
c.-24-222T>G (n.-24-222T>G)
c.783T>G (p.Thr261=)
c.792T>G (p.Thr264=)
1g.196995892T=CA1217885092CFHR5c.528T= (p.Thr176=)
n.852T=
c.-24-222T= (n.-24-222T=)
c.783T= (p.Thr261=)
c.792T= (p.Thr264=)
1g.196995893delCA2649656620CFHR5c.529del (p.Cys177ValfsTer5)
n.853del
c.-24-221del (n.-24-221del)
c.784del (p.Cys262ValfsTer5)
c.793del (p.Cys265ValfsTer5)
 gnomAD v4
1g.196995893T>ACA344005228CFHR5c.529T>A (p.Cys177Ser)
n.853T>A
c.-24-221T>A (n.-24-221T>A)
c.784T>A (p.Cys262Ser)
c.793T>A (p.Cys265Ser)
1g.196995893T>CCA344005229CFHR5c.529T>C (p.Cys177Arg)
n.853T>C
c.-24-221T>C (n.-24-221T>C)
c.784T>C (p.Cys262Arg)
c.793T>C (p.Cys265Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.196995893T>GCA344005231CFHR5c.529T>G (p.Cys177Gly)
n.853T>G
c.-24-221T>G (n.-24-221T>G)
c.784T>G (p.Cys262Gly)
c.793T>G (p.Cys265Gly)
1g.196995893T=CA1217885093CFHR5c.529T= (p.Cys177=)
n.853T=
c.-24-221T= (n.-24-221T=)
c.784T= (p.Cys262=)
c.793T= (p.Cys265=)
1g.196995894G>ACA35878446CFHR5c.530G>A (p.Cys177Tyr)
n.854G>A
c.-24-220G>A (n.-24-220G>A)
c.785G>A (p.Cys262Tyr)
c.794G>A (p.Cys265Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.196995894G>CCA344005233CFHR5c.530G>C (p.Cys177Ser)
n.854G>C
c.-24-220G>C (n.-24-220G>C)
c.785G>C (p.Cys262Ser)
c.794G>C (p.Cys265Ser)
 gnomAD v4
1g.196995894G=CA1217885095CFHR5c.530G= (p.Cys177=)
n.854G=
c.-24-220G= (n.-24-220G=)
c.785G= (p.Cys262=)
c.794G= (p.Cys265=)
1g.196995894G>TCA344005235CFHR5c.530G>T (p.Cys177Phe)
n.854G>T
c.-24-220G>T (n.-24-220G>T)
c.785G>T (p.Cys262Phe)
c.794G>T (p.Cys265Phe)
1g.196995894_196995895insGAGCA1217885094CFHR5c.530_531insGAG (p.Cys177delinsTrpSer)
n.854_855insGAG
c.-24-220_-24-219insGAG (n.-24-220_-24-219insGAG)
c.785_786insGAG (p.Cys262delinsTrpSer)
c.794_795insGAG (p.Cys265delinsTrpSer)
 dbSNP
1g.196995895T>ACA344005237CFHR5c.531T>A (p.Cys177Ter)
n.855T>A
c.-24-219T>A (n.-24-219T>A)
c.786T>A (p.Cys262Ter)
c.795T>A (p.Cys265Ter)
 dbSNP
1g.196995895T>CCA422802785CFHR5c.531T>C (p.Cys177=)
n.855T>C
c.-24-219T>C (n.-24-219T>C)
c.786T>C (p.Cys262=)
c.795T>C (p.Cys265=)
1g.196995895T>GCA344005238CFHR5c.531T>G (p.Cys177Trp)
n.855T>G
c.-24-219T>G (n.-24-219T>G)
c.786T>G (p.Cys262Trp)
c.795T>G (p.Cys265Trp)
1g.196995895T=CA1217885096CFHR5c.531T= (p.Cys177=)
n.855T=
c.-24-219T= (n.-24-219T=)
c.786T= (p.Cys262=)
c.795T= (p.Cys265=)
1g.196995896G>ACA344005240CFHR5c.532G>A (p.Val178Ile)
n.856G>A
c.-24-218G>A (n.-24-218G>A)
c.787G>A (p.Val263Ile)
c.796G>A (p.Val266Ile)
 dbSNP
1g.196995896G>CCA344005242CFHR5c.532G>C (p.Val178Leu)
n.856G>C
c.-24-218G>C (n.-24-218G>C)
c.787G>C (p.Val263Leu)
c.796G>C (p.Val266Leu)
1g.196995896G=CA1217885097CFHR5c.532G= (p.Val178=)
n.856G=
c.-24-218G= (n.-24-218G=)
c.787G= (p.Val263=)
c.796G= (p.Val266=)
1g.196995896G>TCA344005243CFHR5c.532G>T (p.Val178Phe)
n.856G>T
c.-24-218G>T (n.-24-218G>T)
c.787G>T (p.Val263Phe)
c.796G>T (p.Val266Phe)
1g.196995897T>ACA344005245CFHR5c.533T>A (p.Val178Asp)
n.857T>A
c.-24-217T>A (n.-24-217T>A)
c.788T>A (p.Val263Asp)
c.797T>A (p.Val266Asp)
1g.196995897T>CCA344005247CFHR5c.533T>C (p.Val178Ala)
n.857T>C
c.-24-217T>C (n.-24-217T>C)
c.788T>C (p.Val263Ala)
c.797T>C (p.Val266Ala)
 dbSNP
1g.196995897T>GCA344005244CFHR5c.533T>G (p.Val178Gly)
n.857T>G
c.-24-217T>G (n.-24-217T>G)
c.788T>G (p.Val263Gly)
c.797T>G (p.Val266Gly)
1g.196995897T=CA1217885098CFHR5c.533T= (p.Val178=)
n.857T=
c.-24-217T= (n.-24-217T=)
c.788T= (p.Val263=)
c.797T= (p.Val266=)
1g.196995898T>ACA422802787CFHR5c.534T>A (p.Val178=)
n.858T>A
c.-24-216T>A (n.-24-216T>A)
c.789T>A (p.Val263=)
c.798T>A (p.Val266=)
1g.196995898T>CCA422802788CFHR5c.534T>C (p.Val178=)
n.858T>C
c.-24-216T>C (n.-24-216T>C)
c.789T>C (p.Val263=)
c.798T>C (p.Val266=)
1g.196995898T>GCA422802789CFHR5c.534T>G (p.Val178=)
n.858T>G
c.-24-216T>G (n.-24-216T>G)
c.789T>G (p.Val263=)
c.798T>G (p.Val266=)
1g.196995898T=CA1217885099CFHR5c.534T= (p.Val178=)
n.858T=
c.-24-216T= (n.-24-216T=)
c.789T= (p.Val263=)
c.798T= (p.Val266=)
1g.196995899G>ACA344005250CFHR5c.535G>A (p.Glu179Lys)
n.859G>A
c.-24-215G>A (n.-24-215G>A)
c.790G>A (p.Glu264Lys)
c.799G>A (p.Glu267Lys)
1g.196995899G>CCA344005255CFHR5c.535G>C (p.Glu179Gln)
n.859G>C
c.-24-215G>C (n.-24-215G>C)
c.790G>C (p.Glu264Gln)
c.799G>C (p.Glu267Gln)
1g.196995899G>TCA344005256CFHR5c.535G>T (p.Glu179Ter)
n.859G>T
c.-24-215G>T (n.-24-215G>T)
c.790G>T (p.Glu264Ter)
c.799G>T (p.Glu267Ter)
 gnomAD v4
1g.196995899_196995900insAGGAGCA1217885100CFHR5c.535_535+1insAGGAG (p.Gln180GlufsTer4)
n.859_859+1insAGGAG
c.-24-215_-24-214insAGGAG (n.-24-215_-24-214insAGGAG)
c.790_790+1insAGGAG (p.Gln265GlufsTer4)
c.799_799+1insAGGAG (p.Gln268GlufsTer4)
 dbSNP
1g.196995900G>ACA344005257CFHR5c.535+1G>A (n.535+1G>A)
n.859+1G>A
c.-24-214G>A (n.-24-214G>A)
c.790+1G>A (n.790+1G>A)
c.799+1G>A (n.799+1G>A)
 gnomAD v4
1g.196995900G>CCA344005258CFHR5c.535+1G>C (n.535+1G>C)
n.859+1G>C
c.-24-214G>C (n.-24-214G>C)
c.790+1G>C (n.790+1G>C)
c.799+1G>C (n.799+1G>C)
 gnomAD v4
1g.196995900G>TCA344005259CFHR5c.535+1G>T (n.535+1G>T)
n.859+1G>T
c.-24-214G>T (n.-24-214G>T)
c.790+1G>T (n.790+1G>T)
c.799+1G>T (n.799+1G>T)
 gnomAD v4
1g.196995901T>ACA344005262CFHR5c.535+2T>A (n.535+2T>A)
n.859+2T>A
c.-24-213T>A (n.-24-213T>A)
c.790+2T>A (n.790+2T>A)
c.799+2T>A (n.799+2T>A)
1g.196995901T>CCA1307860CFHR5c.535+2T>C (n.535+2T>C)
n.859+2T>C
c.-24-213T>C (n.-24-213T>C)
c.790+2T>C (n.790+2T>C)
c.799+2T>C (n.799+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995901T>GCA344005266CFHR5c.535+2T>G (n.535+2T>G)
n.859+2T>G
c.-24-213T>G (n.-24-213T>G)
c.790+2T>G (n.790+2T>G)
c.799+2T>G (n.799+2T>G)
1g.196995901T=CA1217885101CFHR5c.535+2T= (n.535+2T=)
n.859+2T=
c.-24-213T= (n.-24-213T=)
c.790+2T= (n.790+2T=)
c.799+2T= (n.799+2T=)
1g.196995903_196995904delCA2649656621CFHR5c.535+4_535+5del (n.535+4_535+5del)
n.859+4_859+5del
c.-24-211_-24-210del (n.-24-211_-24-210del)
c.790+4_790+5del (n.790+4_790+5del)
c.799+4_799+5del (n.799+4_799+5del)
 gnomAD v4
1g.196995903A>GCA2574104935CFHR5c.535+4A>G (n.535+4A>G)
n.859+4A>G
c.-24-211A>G (n.-24-211A>G)
c.790+4A>G (n.790+4A>G)
c.799+4A>G (n.799+4A>G)
 gnomAD v4
1g.196995904A>CCA2649656622CFHR5c.535+5A>C (n.535+5A>C)
n.859+5A>C
c.-24-210A>C (n.-24-210A>C)
c.790+5A>C (n.790+5A>C)
c.799+5A>C (n.799+5A>C)
 gnomAD v4
1g.196995907A>TCA2649656623CFHR5c.535+8A>T (n.535+8A>T)
n.859+8A>T
c.-24-207A>T (n.-24-207A>T)
c.790+8A>T (n.790+8A>T)
c.799+8A>T (n.799+8A>T)
 gnomAD v4
1g.196995909T>CCA35878454CFHR5c.535+10T>C (n.535+10T>C)
n.859+10T>C
c.-24-205T>C (n.-24-205T>C)
c.790+10T>C (n.790+10T>C)
c.799+10T>C (n.799+10T>C)
 dbSNP
1g.196995909T=CA1217885102CFHR5c.535+10T= (n.535+10T=)
n.859+10T=
c.-24-205T= (n.-24-205T=)
c.790+10T= (n.790+10T=)
c.799+10T= (n.799+10T=)
1g.196995911_196995913delCA2574104936CFHR5c.535+12_535+14del (n.535+12_535+14del)
n.859+12_859+14del
c.-24-203_-24-201del (n.-24-203_-24-201del)
c.790+12_790+14del (n.790+12_790+14del)
c.799+12_799+14del (n.799+12_799+14del)
1g.196995910A>GCA2649656624CFHR5c.535+11A>G (n.535+11A>G)
n.859+11A>G
c.-24-204A>G (n.-24-204A>G)
c.790+11A>G (n.790+11A>G)
c.799+11A>G (n.799+11A>G)
 gnomAD v4
1g.196995911T>CCA1217885104CFHR5c.535+12T>C (n.535+12T>C)
n.859+12T>C
c.-24-203T>C (n.-24-203T>C)
c.790+12T>C (n.790+12T>C)
c.799+12T>C (n.799+12T>C)
 dbSNP gnomAD v4
1g.196995911T=CA1217885103CFHR5c.535+12T= (n.535+12T=)
n.859+12T=
c.-24-203T= (n.-24-203T=)
c.790+12T= (n.790+12T=)
c.799+12T= (n.799+12T=)
1g.196995912T>GCA528534570CFHR5c.535+13T>G (n.535+13T>G)
n.859+13T>G
c.-24-202T>G (n.-24-202T>G)
c.790+13T>G (n.790+13T>G)
c.799+13T>G (n.799+13T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.196995912T=CA1217885105CFHR5c.535+13T= (n.535+13T=)
n.859+13T=
c.-24-202T= (n.-24-202T=)
c.790+13T= (n.790+13T=)
c.799+13T= (n.799+13T=)
1g.196995913A=CA1217885106CFHR5c.535+14A= (n.535+14A=)
n.859+14A=
c.-24-201A= (n.-24-201A=)
c.790+14A= (n.790+14A=)
c.799+14A= (n.799+14A=)
1g.196995913A>GCA528534571CFHR5c.535+14A>G (n.535+14A>G)
n.859+14A>G
c.-24-201A>G (n.-24-201A>G)
c.790+14A>G (n.790+14A>G)
c.799+14A>G (n.799+14A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995915C>ACA2649656625CFHR5c.535+16C>A (n.535+16C>A)
n.859+16C>A
c.-24-199C>A (n.-24-199C>A)
c.790+16C>A (n.790+16C>A)
c.799+16C>A (n.799+16C>A)
 gnomAD v4
1g.196995915C>TCA2574104937CFHR5c.535+16C>T (n.535+16C>T)
n.859+16C>T
c.-24-199C>T (n.-24-199C>T)
c.790+16C>T (n.790+16C>T)
c.799+16C>T (n.799+16C>T)
 gnomAD v4
1g.196995916A=CA1217885107CFHR5c.535+17A= (n.535+17A=)
n.859+17A=
c.-24-198A= (n.-24-198A=)
c.790+17A= (n.790+17A=)
c.799+17A= (n.799+17A=)
1g.196995916A>CCA729718548CFHR5c.535+17A>C (n.535+17A>C)
n.859+17A>C
c.-24-198A>C (n.-24-198A>C)
c.790+17A>C (n.790+17A>C)
c.799+17A>C (n.799+17A>C)
 dbSNP
1g.196995916A>GCA1307861CFHR5c.535+17A>G (n.535+17A>G)
n.859+17A>G
c.-24-198A>G (n.-24-198A>G)
c.790+17A>G (n.790+17A>G)
c.799+17A>G (n.799+17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995919T>GCA35878461CFHR5c.535+20T>G (n.535+20T>G)
n.859+20T>G
c.-24-195T>G (n.-24-195T>G)
c.790+20T>G (n.790+20T>G)
c.799+20T>G (n.799+20T>G)
 dbSNP
1g.196995919T=CA1217885108CFHR5c.535+20T= (n.535+20T=)
n.859+20T=
c.-24-195T= (n.-24-195T=)
c.790+20T= (n.790+20T=)
c.799+20T= (n.799+20T=)

Number of alleles fetched