Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.196995719C>ACA344004349CFHR5c.355C>A (p.Gln119Lys)
n.679C>A
c.-24-395C>A (n.-24-395C>A)
c.610C>A (p.Gln204Lys)
c.619C>A (p.Gln207Lys)
 gnomAD v4
1g.196995719C>GCA344004343CFHR5c.355C>G (p.Gln119Glu)
n.679C>G
c.-24-395C>G (n.-24-395C>G)
c.610C>G (p.Gln204Glu)
c.619C>G (p.Gln207Glu)
1g.196995719C>TCA344004347CFHR5c.355C>T (p.Gln119Ter)
n.679C>T
c.-24-395C>T (n.-24-395C>T)
c.610C>T (p.Gln204Ter)
c.619C>T (p.Gln207Ter)
1g.196995720A>CCA344004352CFHR5c.356A>C (p.Gln119Pro)
n.680A>C
c.-24-394A>C (n.-24-394A>C)
c.611A>C (p.Gln204Pro)
c.620A>C (p.Gln207Pro)
1g.196995720A>GCA344004354CFHR5c.356A>G (p.Gln119Arg)
n.680A>G
c.-24-394A>G (n.-24-394A>G)
c.611A>G (p.Gln204Arg)
c.620A>G (p.Gln207Arg)
1g.196995720A>TCA344004357CFHR5c.356A>T (p.Gln119Leu)
n.680A>T
c.-24-394A>T (n.-24-394A>T)
c.611A>T (p.Gln204Leu)
c.620A>T (p.Gln207Leu)
1g.196995721A>CCA344004360CFHR5c.357A>C (p.Gln119His)
n.681A>C
c.-24-393A>C (n.-24-393A>C)
c.612A>C (p.Gln204His)
c.621A>C (p.Gln207His)
1g.196995721A>GCA422802624CFHR5c.357A>G (p.Gln119=)
n.681A>G
c.-24-393A>G (n.-24-393A>G)
c.612A>G (p.Gln204=)
c.621A>G (p.Gln207=)
1g.196995721A>TCA344004362CFHR5c.357A>T (p.Gln119His)
n.681A>T
c.-24-393A>T (n.-24-393A>T)
c.612A>T (p.Gln204His)
c.621A>T (p.Gln207His)
1g.196995722G>ACA344004363CFHR5c.358G>A (p.Val120Ile)
n.682G>A
c.-24-392G>A (n.-24-392G>A)
c.613G>A (p.Val205Ile)
c.622G>A (p.Val208Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.196995722G>CCA344004365CFHR5c.358G>C (p.Val120Leu)
n.682G>C
c.-24-392G>C (n.-24-392G>C)
c.613G>C (p.Val205Leu)
c.622G>C (p.Val208Leu)
1g.196995722G=CA1217885018CFHR5c.358G= (p.Val120=)
n.682G=
c.-24-392G= (n.-24-392G=)
c.613G= (p.Val205=)
c.622G= (p.Val208=)
1g.196995722G>TCA344004364CFHR5c.358G>T (p.Val120Leu)
n.682G>T
c.-24-392G>T (n.-24-392G>T)
c.613G>T (p.Val205Leu)
c.622G>T (p.Val208Leu)
1g.196995723T>ACA344004366CFHR5c.359T>A (p.Val120Glu)
n.683T>A
c.-24-391T>A (n.-24-391T>A)
c.614T>A (p.Val205Glu)
c.623T>A (p.Val208Glu)
1g.196995723T>CCA344004367CFHR5c.359T>C (p.Val120Ala)
n.683T>C
c.-24-391T>C (n.-24-391T>C)
c.614T>C (p.Val205Ala)
c.623T>C (p.Val208Ala)
1g.196995723T>GCA344004368CFHR5c.359T>G (p.Val120Gly)
n.683T>G
c.-24-391T>G (n.-24-391T>G)
c.614T>G (p.Val205Gly)
c.623T>G (p.Val208Gly)
1g.196995724A=CA1217885019CFHR5c.360A= (p.Val120=)
n.684A=
c.-24-390A= (n.-24-390A=)
c.615A= (p.Val205=)
c.624A= (p.Val208=)
1g.196995724A>CCA422802625CFHR5c.360A>C (p.Val120=)
n.684A>C
c.-24-390A>C (n.-24-390A>C)
c.615A>C (p.Val205=)
c.624A>C (p.Val208=)
 dbSNP
1g.196995724A>GCA422802626CFHR5c.360A>G (p.Val120=)
n.684A>G
c.-24-390A>G (n.-24-390A>G)
c.615A>G (p.Val205=)
c.624A>G (p.Val208=)
1g.196995724A>TCA422802628CFHR5c.360A>T (p.Val120=)
n.684A>T
c.-24-390A>T (n.-24-390A>T)
c.615A>T (p.Val205=)
c.624A>T (p.Val208=)
1g.196995725C>ACA422802629CFHR5c.361C>A (p.Arg121=)
n.685C>A
c.-24-389C>A (n.-24-389C>A)
c.616C>A (p.Arg206=)
c.625C>A (p.Arg209=)
1g.196995725C=CA1217885020CFHR5c.361C= (p.Arg121=)
n.685C=
c.-24-389C= (n.-24-389C=)
c.616C= (p.Arg206=)
c.625C= (p.Arg209=)
1g.196995725C>GCA344004369CFHR5c.361C>G (p.Arg121Gly)
n.685C>G
c.-24-389C>G (n.-24-389C>G)
c.616C>G (p.Arg206Gly)
c.625C>G (p.Arg209Gly)
 gnomAD v4
1g.196995725C>TCA1307816CFHR5c.361C>T (p.Arg121Ter)
n.685C>T
c.-24-389C>T (n.-24-389C>T)
c.616C>T (p.Arg206Ter)
c.625C>T (p.Arg209Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.196995726G>ACA1307817CFHR5c.362G>A (p.Arg121Gln)
n.686G>A
c.-24-388G>A (n.-24-388G>A)
c.617G>A (p.Arg206Gln)
c.626G>A (p.Arg209Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.196995726G>CCA344004370CFHR5c.362G>C (p.Arg121Pro)
n.686G>C
c.-24-388G>C (n.-24-388G>C)
c.617G>C (p.Arg206Pro)
c.626G>C (p.Arg209Pro)
1g.196995726G=CA1217885021CFHR5c.362G= (p.Arg121=)
n.686G=
c.-24-388G= (n.-24-388G=)
c.617G= (p.Arg206=)
c.626G= (p.Arg209=)
1g.196995726G>TCA344004371CFHR5c.362G>T (p.Arg121Leu)
n.686G>T
c.-24-388G>T (n.-24-388G>T)
c.617G>T (p.Arg206Leu)
c.626G>T (p.Arg209Leu)
 dbSNP gnomAD v4
1g.196995727A=CA1217885022CFHR5c.363A= (p.Arg121=)
n.687A=
c.-24-387A= (n.-24-387A=)
c.618A= (p.Arg206=)
c.627A= (p.Arg209=)
1g.196995727A>CCA422802631CFHR5c.363A>C (p.Arg121=)
n.687A>C
c.-24-387A>C (n.-24-387A>C)
c.618A>C (p.Arg206=)
c.627A>C (p.Arg209=)
1g.196995727A>GCA422802633CFHR5c.363A>G (p.Arg121=)
n.687A>G
c.-24-387A>G (n.-24-387A>G)
c.618A>G (p.Arg206=)
c.627A>G (p.Arg209=)
 dbSNP gnomAD v2 gnomAD v4
1g.196995727A>TCA422802635CFHR5c.363A>T (p.Arg121=)
n.687A>T
c.-24-387A>T (n.-24-387A>T)
c.618A>T (p.Arg206=)
c.627A>T (p.Arg209=)
1g.196995728T>ACA344004373CFHR5c.364T>A (p.Ser122Thr)
n.688T>A
c.-24-386T>A (n.-24-386T>A)
c.619T>A (p.Ser207Thr)
c.628T>A (p.Ser210Thr)
1g.196995728T>CCA35878162CFHR5c.364T>C (p.Ser122Pro)
n.688T>C
c.-24-386T>C (n.-24-386T>C)
c.619T>C (p.Ser207Pro)
c.628T>C (p.Ser210Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.196995728T>GCA344004375CFHR5c.364T>G (p.Ser122Ala)
n.688T>G
c.-24-386T>G (n.-24-386T>G)
c.619T>G (p.Ser207Ala)
c.628T>G (p.Ser210Ala)
1g.196995728T=CA1217885023CFHR5c.364T= (p.Ser122=)
n.688T=
c.-24-386T= (n.-24-386T=)
c.619T= (p.Ser207=)
c.628T= (p.Ser210=)
1g.196995729C>ACA344004408CFHR5c.365C>A (p.Ser122Ter)
n.689C>A
c.-24-385C>A (n.-24-385C>A)
c.620C>A (p.Ser207Ter)
c.629C>A (p.Ser210Ter)
1g.196995729C>GCA344004407CFHR5c.365C>G (p.Ser122Ter)
n.689C>G
c.-24-385C>G (n.-24-385C>G)
c.620C>G (p.Ser207Ter)
c.629C>G (p.Ser210Ter)
 gnomAD v4
1g.196995729C>TCA344004389CFHR5c.365C>T (p.Ser122Leu)
n.689C>T
c.-24-385C>T (n.-24-385C>T)
c.620C>T (p.Ser207Leu)
c.629C>T (p.Ser210Leu)
 COSMIC COSMIC
1g.196995730A=CA1217885024CFHR5c.366A= (p.Ser122=)
n.690A=
c.-24-384A= (n.-24-384A=)
c.621A= (p.Ser207=)
c.630A= (p.Ser210=)
1g.196995730A>CCA422802638CFHR5c.366A>C (p.Ser122=)
n.690A>C
c.-24-384A>C (n.-24-384A>C)
c.621A>C (p.Ser207=)
c.630A>C (p.Ser210=)
1g.196995730A>GCA422802637CFHR5c.366A>G (p.Ser122=)
n.690A>G
c.-24-384A>G (n.-24-384A>G)
c.621A>G (p.Ser207=)
c.630A>G (p.Ser210=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995730A>TCA422802636CFHR5c.366A>T (p.Ser122=)
n.690A>T
c.-24-384A>T (n.-24-384A>T)
c.621A>T (p.Ser207=)
c.630A>T (p.Ser210=)
1g.196995731T>ACA344004411CFHR5c.367T>A (p.Cys123Ser)
n.691T>A
c.-24-383T>A (n.-24-383T>A)
c.622T>A (p.Cys208Ser)
c.631T>A (p.Cys211Ser)
1g.196995731T>CCA1307818CFHR5c.367T>C (p.Cys123Arg)
n.691T>C
c.-24-383T>C (n.-24-383T>C)
c.622T>C (p.Cys208Arg)
c.631T>C (p.Cys211Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995731T>GCA344004416CFHR5c.367T>G (p.Cys123Gly)
n.691T>G
c.-24-383T>G (n.-24-383T>G)
c.622T>G (p.Cys208Gly)
c.631T>G (p.Cys211Gly)
1g.196995731T=CA1140612694CFHR5c.367T= (p.Cys123=)
n.691T=
c.-24-383T= (n.-24-383T=)
c.622T= (p.Cys208=)
c.631T= (p.Cys211=)
1g.196995732G>ACA1307819CFHR5c.368G>A (p.Cys123Tyr)
n.692G>A
c.-24-382G>A (n.-24-382G>A)
c.623G>A (p.Cys208Tyr)
c.632G>A (p.Cys211Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995732G>CCA344004419CFHR5c.368G>C (p.Cys123Ser)
n.692G>C
c.-24-382G>C (n.-24-382G>C)
c.623G>C (p.Cys208Ser)
c.632G>C (p.Cys211Ser)
1g.196995732G=CA1217885025CFHR5c.368G= (p.Cys123=)
n.692G=
c.-24-382G= (n.-24-382G=)
c.623G= (p.Cys208=)
c.632G= (p.Cys211=)
1g.196995732G>TCA344004421CFHR5c.368G>T (p.Cys123Phe)
n.692G>T
c.-24-382G>T (n.-24-382G>T)
c.623G>T (p.Cys208Phe)
c.632G>T (p.Cys211Phe)
1g.196995733T>ACA344004428CFHR5c.369T>A (p.Cys123Ter)
n.693T>A
c.-24-381T>A (n.-24-381T>A)
c.624T>A (p.Cys208Ter)
c.633T>A (p.Cys211Ter)
1g.196995733T>CCA1307820CFHR5c.369T>C (p.Cys123=)
n.693T>C
c.-24-381T>C (n.-24-381T>C)
c.624T>C (p.Cys208=)
c.633T>C (p.Cys211=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995733T>GCA344004426CFHR5c.369T>G (p.Cys123Trp)
n.693T>G
c.-24-381T>G (n.-24-381T>G)
c.624T>G (p.Cys208Trp)
c.633T>G (p.Cys211Trp)
1g.196995733T=CA1217885026CFHR5c.369T= (p.Cys123=)
n.693T=
c.-24-381T= (n.-24-381T=)
c.624T= (p.Cys208=)
c.633T= (p.Cys211=)
1g.196995734G>ACA344004430CFHR5c.370G>A (p.Gly124Ser)
n.694G>A
c.-24-380G>A (n.-24-380G>A)
c.625G>A (p.Gly209Ser)
c.634G>A (p.Gly212Ser)
1g.196995734G>CCA344004433CFHR5c.370G>C (p.Gly124Arg)
n.694G>C
c.-24-380G>C (n.-24-380G>C)
c.625G>C (p.Gly209Arg)
c.634G>C (p.Gly212Arg)
1g.196995734G=CA1217885027CFHR5c.370G= (p.Gly124=)
n.694G=
c.-24-380G= (n.-24-380G=)
c.625G= (p.Gly209=)
c.634G= (p.Gly212=)
1g.196995734G>TCA344004446CFHR5c.370G>T (p.Gly124Cys)
n.694G>T
c.-24-380G>T (n.-24-380G>T)
c.625G>T (p.Gly209Cys)
c.634G>T (p.Gly212Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.196995735G>ACA344004449CFHR5c.371G>A (p.Gly124Asp)
n.695G>A
c.-24-379G>A (n.-24-379G>A)
c.626G>A (p.Gly209Asp)
c.635G>A (p.Gly212Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995735G>CCA344004450CFHR5c.371G>C (p.Gly124Ala)
n.695G>C
c.-24-379G>C (n.-24-379G>C)
c.626G>C (p.Gly209Ala)
c.635G>C (p.Gly212Ala)
1g.196995735G=CA1217885028CFHR5c.371G= (p.Gly124=)
n.695G=
c.-24-379G= (n.-24-379G=)
c.626G= (p.Gly209=)
c.635G= (p.Gly212=)
1g.196995735G>TCA35878168CFHR5c.371G>T (p.Gly124Val)
n.695G>T
c.-24-379G>T (n.-24-379G>T)
c.626G>T (p.Gly209Val)
c.635G>T (p.Gly212Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995736T>ACA422802646CFHR5c.372T>A (p.Gly124=)
n.696T>A
c.-24-378T>A (n.-24-378T>A)
c.627T>A (p.Gly209=)
c.636T>A (p.Gly212=)
1g.196995736T>CCA422802642CFHR5c.372T>C (p.Gly124=)
n.696T>C
c.-24-378T>C (n.-24-378T>C)
c.627T>C (p.Gly209=)
c.636T>C (p.Gly212=)
1g.196995736T>GCA422802644CFHR5c.372T>G (p.Gly124=)
n.696T>G
c.-24-378T>G (n.-24-378T>G)
c.627T>G (p.Gly209=)
c.636T>G (p.Gly212=)
1g.196995737C>ACA344004451CFHR5c.373C>A (p.Pro125Thr)
n.697C>A
c.-24-377C>A (n.-24-377C>A)
c.628C>A (p.Pro210Thr)
c.637C>A (p.Pro213Thr)
1g.196995737C=CA1217885029CFHR5c.373C= (p.Pro125=)
n.697C=
c.-24-377C= (n.-24-377C=)
c.628C= (p.Pro210=)
c.637C= (p.Pro213=)
1g.196995737C>GCA344004452CFHR5c.373C>G (p.Pro125Ala)
n.697C>G
c.-24-377C>G (n.-24-377C>G)
c.628C>G (p.Pro210Ala)
c.637C>G (p.Pro213Ala)
1g.196995737C>TCA1307821CFHR5c.373C>T (p.Pro125Ser)
n.697C>T
c.-24-377C>T (n.-24-377C>T)
c.628C>T (p.Pro210Ser)
c.637C>T (p.Pro213Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.196995738delCA2649656616CFHR5c.374del (p.Pro125HisfsTer13)
n.698del
c.-24-376del (n.-24-376del)
c.629del (p.Pro210HisfsTer13)
c.638del (p.Pro213HisfsTer13)
 gnomAD v4
1g.196995738C>ACA344004454CFHR5c.374C>A (p.Pro125Gln)
n.698C>A
c.-24-376C>A (n.-24-376C>A)
c.629C>A (p.Pro210Gln)
c.638C>A (p.Pro213Gln)
1g.196995738C>GCA344004455CFHR5c.374C>G (p.Pro125Arg)
n.698C>G
c.-24-376C>G (n.-24-376C>G)
c.629C>G (p.Pro210Arg)
c.638C>G (p.Pro213Arg)
1g.196995738C>TCA344004457CFHR5c.374C>T (p.Pro125Leu)
n.698C>T
c.-24-376C>T (n.-24-376C>T)
c.629C>T (p.Pro210Leu)
c.638C>T (p.Pro213Leu)
1g.196995739A>CCA422802648CFHR5c.375A>C (p.Pro125=)
n.699A>C
c.-24-375A>C (n.-24-375A>C)
c.630A>C (p.Pro210=)
c.639A>C (p.Pro213=)
1g.196995739A>GCA422802650CFHR5c.375A>G (p.Pro125=)
n.699A>G
c.-24-375A>G (n.-24-375A>G)
c.630A>G (p.Pro210=)
c.639A>G (p.Pro213=)
1g.196995739A>TCA422802652CFHR5c.375A>T (p.Pro125=)
n.699A>T
c.-24-375A>T (n.-24-375A>T)
c.630A>T (p.Pro210=)
c.639A>T (p.Pro213=)
1g.196995740C>ACA344004459CFHR5c.376C>A (p.Pro126Thr)
n.700C>A
c.-24-374C>A (n.-24-374C>A)
c.631C>A (p.Pro211Thr)
c.640C>A (p.Pro214Thr)
1g.196995740C>GCA344004462CFHR5c.376C>G (p.Pro126Ala)
n.700C>G
c.-24-374C>G (n.-24-374C>G)
c.631C>G (p.Pro211Ala)
c.640C>G (p.Pro214Ala)
1g.196995740C>TCA344004463CFHR5c.376C>T (p.Pro126Ser)
n.700C>T
c.-24-374C>T (n.-24-374C>T)
c.631C>T (p.Pro211Ser)
c.640C>T (p.Pro214Ser)
1g.196995744_196995746delCA2649656617CFHR5c.380_382del (p.Pro127del)
n.704_706del
c.-24-370_-24-368del (n.-24-370_-24-368del)
c.635_637del (p.Pro212del)
c.644_646del (p.Pro215del)
 gnomAD v4
1g.196995741C>ACA344004467CFHR5c.377C>A (p.Pro126His)
n.701C>A
c.-24-373C>A (n.-24-373C>A)
c.632C>A (p.Pro211His)
c.641C>A (p.Pro214His)
1g.196995741C=CA1143659796CFHR5c.377C= (p.Pro126=)
n.701C=
c.-24-373C= (n.-24-373C=)
c.632C= (p.Pro211=)
c.641C= (p.Pro214=)
1g.196995741C>GCA35878176CFHR5c.377C>G (p.Pro126Arg)
n.701C>G
c.-24-373C>G (n.-24-373C>G)
c.632C>G (p.Pro211Arg)
c.641C>G (p.Pro214Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.196995741C>TCA344004471CFHR5c.377C>T (p.Pro126Leu)
n.701C>T
c.-24-373C>T (n.-24-373C>T)
c.632C>T (p.Pro211Leu)
c.641C>T (p.Pro214Leu)
1g.196995742T>ACA422802656CFHR5c.378T>A (p.Pro126=)
n.702T>A
c.-24-372T>A (n.-24-372T>A)
c.633T>A (p.Pro211=)
c.642T>A (p.Pro214=)
1g.196995742T>CCA422802654CFHR5c.378T>C (p.Pro126=)
n.702T>C
c.-24-372T>C (n.-24-372T>C)
c.633T>C (p.Pro211=)
c.642T>C (p.Pro214=)
1g.196995742T>GCA422802655CFHR5c.378T>G (p.Pro126=)
n.702T>G
c.-24-372T>G (n.-24-372T>G)
c.633T>G (p.Pro211=)
c.642T>G (p.Pro214=)
1g.196995743C>ACA344004474CFHR5c.379C>A (p.Pro127Thr)
n.703C>A
c.-24-371C>A (n.-24-371C>A)
c.634C>A (p.Pro212Thr)
c.643C>A (p.Pro215Thr)
1g.196995743C=CA1217885030CFHR5c.379C= (p.Pro127=)
n.703C=
c.-24-371C= (n.-24-371C=)
c.634C= (p.Pro212=)
c.643C= (p.Pro215=)
1g.196995743C>GCA344004476CFHR5c.379C>G (p.Pro127Ala)
n.703C>G
c.-24-371C>G (n.-24-371C>G)
c.634C>G (p.Pro212Ala)
c.643C>G (p.Pro215Ala)
1g.196995743C>TCA344004477CFHR5c.379C>T (p.Pro127Ser)
n.703C>T
c.-24-371C>T (n.-24-371C>T)
c.634C>T (p.Pro212Ser)
c.643C>T (p.Pro215Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.196995744C>ACA344004482CFHR5c.380C>A (p.Pro127His)
n.704C>A
c.-24-370C>A (n.-24-370C>A)
c.635C>A (p.Pro212His)
c.644C>A (p.Pro215His)
1g.196995744C=CA1217885031CFHR5c.380C= (p.Pro127=)
n.704C=
c.-24-370C= (n.-24-370C=)
c.635C= (p.Pro212=)
c.644C= (p.Pro215=)
1g.196995744C>GCA344004485CFHR5c.380C>G (p.Pro127Arg)
n.704C>G
c.-24-370C>G (n.-24-370C>G)
c.635C>G (p.Pro212Arg)
c.644C>G (p.Pro215Arg)
 gnomAD v4
1g.196995744C>TCA344004484CFHR5c.380C>T (p.Pro127Leu)
n.704C>T
c.-24-370C>T (n.-24-370C>T)
c.635C>T (p.Pro212Leu)
c.644C>T (p.Pro215Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.196995745T>ACA422802657CFHR5c.381T>A (p.Pro127=)
n.705T>A
c.-24-369T>A (n.-24-369T>A)
c.636T>A (p.Pro212=)
c.645T>A (p.Pro215=)
1g.196995745T>CCA422802659CFHR5c.381T>C (p.Pro127=)
n.705T>C
c.-24-369T>C (n.-24-369T>C)
c.636T>C (p.Pro212=)
c.645T>C (p.Pro215=)
1g.196995745T>GCA422802661CFHR5c.381T>G (p.Pro127=)
n.705T>G
c.-24-369T>G (n.-24-369T>G)
c.636T>G (p.Pro212=)
c.645T>G (p.Pro215=)
 dbSNP
1g.196995745T=CA1217885032CFHR5c.381T= (p.Pro127=)
n.705T=
c.-24-369T= (n.-24-369T=)
c.636T= (p.Pro212=)
c.645T= (p.Pro215=)
1g.196995746C>ACA344004486CFHR5c.382C>A (p.Gln128Lys)
n.706C>A
c.-24-368C>A (n.-24-368C>A)
c.637C>A (p.Gln213Lys)
c.646C>A (p.Gln216Lys)
1g.196995746C=CA1217885033CFHR5c.382C= (p.Gln128=)
n.706C=
c.-24-368C= (n.-24-368C=)
c.637C= (p.Gln213=)
c.646C= (p.Gln216=)
1g.196995746C>GCA344004487CFHR5c.382C>G (p.Gln128Glu)
n.706C>G
c.-24-368C>G (n.-24-368C>G)
c.637C>G (p.Gln213Glu)
c.646C>G (p.Gln216Glu)
 COSMIC COSMIC
1g.196995746C>TCA35878180CFHR5c.382C>T (p.Gln128Ter)
n.706C>T
c.-24-368C>T (n.-24-368C>T)
c.637C>T (p.Gln213Ter)
c.646C>T (p.Gln216Ter)
 dbSNP COSMIC COSMIC
1g.196995747A>CCA344004491CFHR5c.383A>C (p.Gln128Pro)
n.707A>C
c.-24-367A>C (n.-24-367A>C)
c.638A>C (p.Gln213Pro)
c.647A>C (p.Gln216Pro)
1g.196995747A>GCA344004493CFHR5c.383A>G (p.Gln128Arg)
n.707A>G
c.-24-367A>G (n.-24-367A>G)
c.638A>G (p.Gln213Arg)
c.647A>G (p.Gln216Arg)
 gnomAD v4
1g.196995747A>TCA344004497CFHR5c.383A>T (p.Gln128Leu)
n.707A>T
c.-24-367A>T (n.-24-367A>T)
c.638A>T (p.Gln213Leu)
c.647A>T (p.Gln216Leu)
 COSMIC COSMIC
1g.196995748A=CA1217885034CFHR5c.384A= (p.Gln128=)
n.708A=
c.-24-366A= (n.-24-366A=)
c.639A= (p.Gln213=)
c.648A= (p.Gln216=)
1g.196995748A>CCA344004502CFHR5c.384A>C (p.Gln128His)
n.708A>C
c.-24-366A>C (n.-24-366A>C)
c.639A>C (p.Gln213His)
c.648A>C (p.Gln216His)
 dbSNP gnomAD v4
1g.196995748A>GCA422802662CFHR5c.384A>G (p.Gln128=)
n.708A>G
c.-24-366A>G (n.-24-366A>G)
c.639A>G (p.Gln213=)
c.648A>G (p.Gln216=)
 dbSNP gnomAD v3 gnomAD v4
1g.196995748A>TCA344004500CFHR5c.384A>T (p.Gln128His)
n.708A>T
c.-24-366A>T (n.-24-366A>T)
c.639A>T (p.Gln213His)
c.648A>T (p.Gln216His)
 gnomAD v4
1g.196995749C>ACA344004504CFHR5c.385C>A (p.Leu129Ile)
n.709C>A
c.-24-365C>A (n.-24-365C>A)
c.640C>A (p.Leu214Ile)
c.649C>A (p.Leu217Ile)
 gnomAD v4
1g.196995749C>GCA344004507CFHR5c.385C>G (p.Leu129Val)
n.709C>G
c.-24-365C>G (n.-24-365C>G)
c.640C>G (p.Leu214Val)
c.649C>G (p.Leu217Val)
1g.196995749C>TCA344004509CFHR5c.385C>T (p.Leu129Phe)
n.709C>T
c.-24-365C>T (n.-24-365C>T)
c.640C>T (p.Leu214Phe)
c.649C>T (p.Leu217Phe)
 gnomAD v4
1g.196995750T>ACA344004513CFHR5c.386T>A (p.Leu129His)
n.710T>A
c.-24-364T>A (n.-24-364T>A)
c.641T>A (p.Leu214His)
c.650T>A (p.Leu217His)
1g.196995750T>CCA344004515CFHR5c.386T>C (p.Leu129Pro)
n.710T>C
c.-24-364T>C (n.-24-364T>C)
c.641T>C (p.Leu214Pro)
c.650T>C (p.Leu217Pro)
1g.196995750T>GCA344004518CFHR5c.386T>G (p.Leu129Arg)
n.710T>G
c.-24-364T>G (n.-24-364T>G)
c.641T>G (p.Leu214Arg)
c.650T>G (p.Leu217Arg)
1g.196995751C>ACA422802664CFHR5c.387C>A (p.Leu129=)
n.711C>A
c.-24-363C>A (n.-24-363C>A)
c.642C>A (p.Leu214=)
c.651C>A (p.Leu217=)
1g.196995751C=CA1217885035CFHR5c.387C= (p.Leu129=)
n.711C=
c.-24-363C= (n.-24-363C=)
c.642C= (p.Leu214=)
c.651C= (p.Leu217=)
1g.196995751C>GCA422802665CFHR5c.387C>G (p.Leu129=)
n.711C>G
c.-24-363C>G (n.-24-363C>G)
c.642C>G (p.Leu214=)
c.651C>G (p.Leu217=)
1g.196995751C>TCA422802666CFHR5c.387C>T (p.Leu129=)
n.711C>T
c.-24-363C>T (n.-24-363C>T)
c.642C>T (p.Leu214=)
c.651C>T (p.Leu217=)
 dbSNP gnomAD v4
1g.196995752T>ACA344004520CFHR5c.388T>A (p.Ser130Thr)
n.712T>A
c.-24-362T>A (n.-24-362T>A)
c.643T>A (p.Ser215Thr)
c.652T>A (p.Ser218Thr)
1g.196995752T>CCA1307822CFHR5c.388T>C (p.Ser130Pro)
n.712T>C
c.-24-362T>C (n.-24-362T>C)
c.643T>C (p.Ser215Pro)
c.652T>C (p.Ser218Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995752T>GCA344004523CFHR5c.388T>G (p.Ser130Ala)
n.712T>G
c.-24-362T>G (n.-24-362T>G)
c.643T>G (p.Ser215Ala)
c.652T>G (p.Ser218Ala)
1g.196995752T=CA1143595918CFHR5c.388T= (p.Ser130=)
n.712T=
c.-24-362T= (n.-24-362T=)
c.643T= (p.Ser215=)
c.652T= (p.Ser218=)
1g.196995753C>ACA344004527CFHR5c.389C>A (p.Ser130Tyr)
n.713C>A
c.-24-361C>A (n.-24-361C>A)
c.644C>A (p.Ser215Tyr)
c.653C>A (p.Ser218Tyr)
1g.196995753C>GCA344004530CFHR5c.389C>G (p.Ser130Cys)
n.713C>G
c.-24-361C>G (n.-24-361C>G)
c.644C>G (p.Ser215Cys)
c.653C>G (p.Ser218Cys)
 gnomAD v4
1g.196995753C>TCA344004537CFHR5c.389C>T (p.Ser130Phe)
n.713C>T
c.-24-361C>T (n.-24-361C>T)
c.644C>T (p.Ser215Phe)
c.653C>T (p.Ser218Phe)
1g.196995754C>ACA422802668CFHR5c.390C>A (p.Ser130=)
n.714C>A
c.-24-360C>A (n.-24-360C>A)
c.645C>A (p.Ser215=)
c.654C>A (p.Ser218=)
1g.196995754C=CA1217885036CFHR5c.390C= (p.Ser130=)
n.714C=
c.-24-360C= (n.-24-360C=)
c.645C= (p.Ser215=)
c.654C= (p.Ser218=)
1g.196995754C>GCA422802669CFHR5c.390C>G (p.Ser130=)
n.714C>G
c.-24-360C>G (n.-24-360C>G)
c.645C>G (p.Ser215=)
c.654C>G (p.Ser218=)
1g.196995754C>TCA1307823CFHR5c.390C>T (p.Ser130=)
n.714C>T
c.-24-360C>T (n.-24-360C>T)
c.645C>T (p.Ser215=)
c.654C>T (p.Ser218=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995755A=CA1141642662CFHR5c.391A= (p.Asn131=)
n.715A=
c.-24-359A= (n.-24-359A=)
c.646A= (p.Asn216=)
c.655A= (p.Asn219=)
1g.196995755A>CCA344004540CFHR5c.391A>C (p.Asn131His)
n.715A>C
c.-24-359A>C (n.-24-359A>C)
c.646A>C (p.Asn216His)
c.655A>C (p.Asn219His)
1g.196995755A>GCA344004542CFHR5c.391A>G (p.Asn131Asp)
n.715A>G
c.-24-359A>G (n.-24-359A>G)
c.646A>G (p.Asn216Asp)
c.655A>G (p.Asn219Asp)
 gnomAD v4
1g.196995755A>TCA1307824CFHR5c.391A>T (p.Asn131Tyr)
n.715A>T
c.-24-359A>T (n.-24-359A>T)
c.646A>T (p.Asn216Tyr)
c.655A>T (p.Asn219Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995755_196995756delinsTTCA658656981CFHR5c.391_392delinsTT (p.Asn131Phe)
n.715_716delinsTT
c.-24-359_-24-358delinsTT (n.-24-359_-24-358delinsTT)
c.646_647delinsTT (p.Asn216Phe)
c.655_656delinsTT (p.Asn219Phe)
 ClinVar
1g.196995756A=CA1142182018CFHR5c.392A= (p.Asn131=)
n.716A=
c.-24-358A= (n.-24-358A=)
c.647A= (p.Asn216=)
c.656A= (p.Asn219=)
1g.196995756A>CCA344004544CFHR5c.392A>C (p.Asn131Thr)
n.716A>C
c.-24-358A>C (n.-24-358A>C)
c.647A>C (p.Asn216Thr)
c.656A>C (p.Asn219Thr)
1g.196995756A>GCA1307825CFHR5c.392A>G (p.Asn131Ser)
n.716A>G
c.-24-358A>G (n.-24-358A>G)
c.647A>G (p.Asn216Ser)
c.656A>G (p.Asn219Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.196995756A>TCA1307826CFHR5c.392A>T (p.Asn131Ile)
n.716A>T
c.-24-358A>T (n.-24-358A>T)
c.647A>T (p.Asn216Ile)
c.656A>T (p.Asn219Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995757T>ACA344004550CFHR5c.393T>A (p.Asn131Lys)
n.717T>A
c.-24-357T>A (n.-24-357T>A)
c.648T>A (p.Asn216Lys)
c.657T>A (p.Asn219Lys)
1g.196995757T>CCA1307827CFHR5c.393T>C (p.Asn131=)
n.717T>C
c.-24-357T>C (n.-24-357T>C)
c.648T>C (p.Asn216=)
c.657T>C (p.Asn219=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995757T>GCA344004553CFHR5c.393T>G (p.Asn131Lys)
n.717T>G
c.-24-357T>G (n.-24-357T>G)
c.648T>G (p.Asn216Lys)
c.657T>G (p.Asn219Lys)
 dbSNP
1g.196995757T=CA1217885037CFHR5c.393T= (p.Asn131=)
n.717T=
c.-24-357T= (n.-24-357T=)
c.648T= (p.Asn216=)
c.657T= (p.Asn219=)
1g.196995758G>ACA1307828CFHR5c.394G>A (p.Gly132Ser)
n.718G>A
c.-24-356G>A (n.-24-356G>A)
c.649G>A (p.Gly217Ser)
c.658G>A (p.Gly220Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995758G>CCA344004563CFHR5c.394G>C (p.Gly132Arg)
n.718G>C
c.-24-356G>C (n.-24-356G>C)
c.649G>C (p.Gly217Arg)
c.658G>C (p.Gly220Arg)
1g.196995758G=CA1217885038CFHR5c.394G= (p.Gly132=)
n.718G=
c.-24-356G= (n.-24-356G=)
c.649G= (p.Gly217=)
c.658G= (p.Gly220=)
1g.196995758G>TCA344004560CFHR5c.394G>T (p.Gly132Cys)
n.718G>T
c.-24-356G>T (n.-24-356G>T)
c.649G>T (p.Gly217Cys)
c.658G>T (p.Gly220Cys)
1g.196995759G>ACA344004566CFHR5c.395G>A (p.Gly132Asp)
n.719G>A
c.-24-355G>A (n.-24-355G>A)
c.650G>A (p.Gly217Asp)
c.659G>A (p.Gly220Asp)
 gnomAD v4
1g.196995759G>CCA344004571CFHR5c.395G>C (p.Gly132Ala)
n.719G>C
c.-24-355G>C (n.-24-355G>C)
c.650G>C (p.Gly217Ala)
c.659G>C (p.Gly220Ala)
1g.196995759G=CA1217885039CFHR5c.395G= (p.Gly132=)
n.719G=
c.-24-355G= (n.-24-355G=)
c.650G= (p.Gly217=)
c.659G= (p.Gly220=)
1g.196995759G>TCA344004569CFHR5c.395G>T (p.Gly132Val)
n.719G>T
c.-24-355G>T (n.-24-355G>T)
c.650G>T (p.Gly217Val)
c.659G>T (p.Gly220Val)
 dbSNP gnomAD v3 gnomAD v4
1g.196995760T>ACA1307829CFHR5c.396T>A (p.Gly132=)
n.720T>A
c.-24-354T>A (n.-24-354T>A)
c.651T>A (p.Gly217=)
c.660T>A (p.Gly220=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995760T>CCA422802676CFHR5c.396T>C (p.Gly132=)
n.720T>C
c.-24-354T>C (n.-24-354T>C)
c.651T>C (p.Gly217=)
c.660T>C (p.Gly220=)
1g.196995760T>GCA422802677CFHR5c.396T>G (p.Gly132=)
n.720T>G
c.-24-354T>G (n.-24-354T>G)
c.651T>G (p.Gly217=)
c.660T>G (p.Gly220=)
1g.196995760T=CA1217885040CFHR5c.396T= (p.Gly132=)
n.720T=
c.-24-354T= (n.-24-354T=)
c.651T= (p.Gly217=)
c.660T= (p.Gly220=)
1g.196995761G>ACA344004580CFHR5c.397G>A (p.Glu133Lys)
n.721G>A
c.-24-353G>A (n.-24-353G>A)
c.652G>A (p.Glu218Lys)
c.661G>A (p.Glu221Lys)
1g.196995761G>CCA344004575CFHR5c.397G>C (p.Glu133Gln)
n.721G>C
c.-24-353G>C (n.-24-353G>C)
c.652G>C (p.Glu218Gln)
c.661G>C (p.Glu221Gln)
1g.196995761G>TCA344004577CFHR5c.397G>T (p.Glu133Ter)
n.721G>T
c.-24-353G>T (n.-24-353G>T)
c.652G>T (p.Glu218Ter)
c.661G>T (p.Glu221Ter)
1g.196995762A>CCA344004583CFHR5c.398A>C (p.Glu133Ala)
n.722A>C
c.-24-352A>C (n.-24-352A>C)
c.653A>C (p.Glu218Ala)
c.662A>C (p.Glu221Ala)
 COSMIC COSMIC
1g.196995762A>GCA344004586CFHR5c.398A>G (p.Glu133Gly)
n.722A>G
c.-24-352A>G (n.-24-352A>G)
c.653A>G (p.Glu218Gly)
c.662A>G (p.Glu221Gly)
1g.196995762A>TCA344004589CFHR5c.398A>T (p.Glu133Val)
n.722A>T
c.-24-352A>T (n.-24-352A>T)
c.653A>T (p.Glu218Val)
c.662A>T (p.Glu221Val)
1g.196995763A>CCA344004591CFHR5c.399A>C (p.Glu133Asp)
n.723A>C
c.-24-351A>C (n.-24-351A>C)
c.654A>C (p.Glu218Asp)
c.663A>C (p.Glu221Asp)
1g.196995763A>GCA422802681CFHR5c.399A>G (p.Glu133=)
n.723A>G
c.-24-351A>G (n.-24-351A>G)
c.654A>G (p.Glu218=)
c.663A>G (p.Glu221=)
1g.196995763A>TCA344004593CFHR5c.399A>T (p.Glu133Asp)
n.723A>T
c.-24-351A>T (n.-24-351A>T)
c.654A>T (p.Glu218Asp)
c.663A>T (p.Glu221Asp)
1g.196995764G>ACA344004596CFHR5c.400G>A (p.Val134Ile)
n.724G>A
c.-24-350G>A (n.-24-350G>A)
c.655G>A (p.Val219Ile)
c.664G>A (p.Val222Ile)
 gnomAD v4
1g.196995764G>CCA344004597CFHR5c.400G>C (p.Val134Leu)
n.724G>C
c.-24-350G>C (n.-24-350G>C)
c.655G>C (p.Val219Leu)
c.664G>C (p.Val222Leu)
1g.196995764G>TCA344004600CFHR5c.400G>T (p.Val134Phe)
n.724G>T
c.-24-350G>T (n.-24-350G>T)
c.655G>T (p.Val219Phe)
c.664G>T (p.Val222Phe)
1g.196995765T>ACA344004610CFHR5c.401T>A (p.Val134Asp)
n.725T>A
c.-24-349T>A (n.-24-349T>A)
c.656T>A (p.Val219Asp)
c.665T>A (p.Val222Asp)
1g.196995765T>CCA344004606CFHR5c.401T>C (p.Val134Ala)
n.725T>C
c.-24-349T>C (n.-24-349T>C)
c.656T>C (p.Val219Ala)
c.665T>C (p.Val222Ala)
1g.196995765T>GCA344004603CFHR5c.401T>G (p.Val134Gly)
n.725T>G
c.-24-349T>G (n.-24-349T>G)
c.656T>G (p.Val219Gly)
c.665T>G (p.Val222Gly)
 gnomAD v4
1g.196995766T>ACA422802682CFHR5c.402T>A (p.Val134=)
n.726T>A
c.-24-348T>A (n.-24-348T>A)
c.657T>A (p.Val219=)
c.666T>A (p.Val222=)
1g.196995766T>CCA422802683CFHR5c.402T>C (p.Val134=)
n.726T>C
c.-24-348T>C (n.-24-348T>C)
c.657T>C (p.Val219=)
c.666T>C (p.Val222=)
 COSMIC COSMIC
1g.196995766T>GCA422802684CFHR5c.402T>G (p.Val134=)
n.726T>G
c.-24-348T>G (n.-24-348T>G)
c.657T>G (p.Val219=)
c.666T>G (p.Val222=)
1g.196995767A=CA1217885041CFHR5c.403A= (p.Lys135=)
n.727A=
c.-24-347A= (n.-24-347A=)
c.658A= (p.Lys220=)
c.667A= (p.Lys223=)
1g.196995767A>CCA344004611CFHR5c.403A>C (p.Lys135Gln)
n.727A>C
c.-24-347A>C (n.-24-347A>C)
c.658A>C (p.Lys220Gln)
c.667A>C (p.Lys223Gln)
1g.196995767A>GCA344004613CFHR5c.403A>G (p.Lys135Glu)
n.727A>G
c.-24-347A>G (n.-24-347A>G)
c.658A>G (p.Lys220Glu)
c.667A>G (p.Lys223Glu)
 dbSNP
1g.196995767A>TCA344004614CFHR5c.403A>T (p.Lys135Ter)
n.727A>T
c.-24-347A>T (n.-24-347A>T)
c.658A>T (p.Lys220Ter)
c.667A>T (p.Lys223Ter)
 dbSNP
1g.196995768A>CCA344004617CFHR5c.404A>C (p.Lys135Thr)
n.728A>C
c.-24-346A>C (n.-24-346A>C)
c.659A>C (p.Lys220Thr)
c.668A>C (p.Lys223Thr)
1g.196995768A>GCA344004620CFHR5c.404A>G (p.Lys135Arg)
n.728A>G
c.-24-346A>G (n.-24-346A>G)
c.659A>G (p.Lys220Arg)
c.668A>G (p.Lys223Arg)
 gnomAD v4
1g.196995768A>TCA344004622CFHR5c.404A>T (p.Lys135Met)
n.728A>T
c.-24-346A>T (n.-24-346A>T)
c.659A>T (p.Lys220Met)
c.668A>T (p.Lys223Met)
1g.196995769G>ACA422802688CFHR5c.405G>A (p.Lys135=)
n.729G>A
c.-24-345G>A (n.-24-345G>A)
c.660G>A (p.Lys220=)
c.669G>A (p.Lys223=)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.196995769G>CCA1307830CFHR5c.405G>C (p.Lys135Asn)
n.729G>C
c.-24-345G>C (n.-24-345G>C)
c.660G>C (p.Lys220Asn)
c.669G>C (p.Lys223Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995769G=CA1217885042CFHR5c.405G= (p.Lys135=)
n.729G=
c.-24-345G= (n.-24-345G=)
c.660G= (p.Lys220=)
c.669G= (p.Lys223=)
1g.196995769G>TCA344004627CFHR5c.405G>T (p.Lys135Asn)
n.729G>T
c.-24-345G>T (n.-24-345G>T)
c.660G>T (p.Lys220Asn)
c.669G>T (p.Lys223Asn)
1g.196995770G>ACA344004629CFHR5c.406G>A (p.Glu136Lys)
n.730G>A
c.-24-344G>A (n.-24-344G>A)
c.661G>A (p.Glu221Lys)
c.670G>A (p.Glu224Lys)
 COSMIC COSMIC
1g.196995770G>CCA344004632CFHR5c.406G>C (p.Glu136Gln)
n.730G>C
c.-24-344G>C (n.-24-344G>C)
c.661G>C (p.Glu221Gln)
c.670G>C (p.Glu224Gln)
1g.196995770G>TCA344004635CFHR5c.406G>T (p.Glu136Ter)
n.730G>T
c.-24-344G>T (n.-24-344G>T)
c.661G>T (p.Glu221Ter)
c.670G>T (p.Glu224Ter)
1g.196995771A=CA1217885043CFHR5c.407A= (p.Glu136=)
n.731A=
c.-24-343A= (n.-24-343A=)
c.662A= (p.Glu221=)
c.671A= (p.Glu224=)
1g.196995771A>CCA344004640CFHR5c.407A>C (p.Glu136Ala)
n.731A>C
c.-24-343A>C (n.-24-343A>C)
c.662A>C (p.Glu221Ala)
c.671A>C (p.Glu224Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.196995771A>GCA344004643CFHR5c.407A>G (p.Glu136Gly)
n.731A>G
c.-24-343A>G (n.-24-343A>G)
c.662A>G (p.Glu221Gly)
c.671A>G (p.Glu224Gly)
 gnomAD v4
1g.196995771A>TCA344004636CFHR5c.407A>T (p.Glu136Val)
n.731A>T
c.-24-343A>T (n.-24-343A>T)
c.662A>T (p.Glu221Val)
c.671A>T (p.Glu224Val)
1g.196995772G>ACA422802690CFHR5c.408G>A (p.Glu136=)
n.732G>A
c.-24-342G>A (n.-24-342G>A)
c.663G>A (p.Glu221=)
c.672G>A (p.Glu224=)
 dbSNP gnomAD v2 gnomAD v4
1g.196995772G>CCA344004646CFHR5c.408G>C (p.Glu136Asp)
n.732G>C
c.-24-342G>C (n.-24-342G>C)
c.663G>C (p.Glu221Asp)
c.672G>C (p.Glu224Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.196995772G=CA1217885044CFHR5c.408G= (p.Glu136=)
n.732G=
c.-24-342G= (n.-24-342G=)
c.663G= (p.Glu221=)
c.672G= (p.Glu224=)
1g.196995772G>TCA344004648CFHR5c.408G>T (p.Glu136Asp)
n.732G>T
c.-24-342G>T (n.-24-342G>T)
c.663G>T (p.Glu221Asp)
c.672G>T (p.Glu224Asp)
1g.196995773A=CA1217885045CFHR5c.409A= (p.Ile137=)
n.733A=
c.-24-341A= (n.-24-341A=)
c.664A= (p.Ile222=)
c.673A= (p.Ile225=)
1g.196995773A>CCA344004650CFHR5c.409A>C (p.Ile137Leu)
n.733A>C
c.-24-341A>C (n.-24-341A>C)
c.664A>C (p.Ile222Leu)
c.673A>C (p.Ile225Leu)
1g.196995773A>GCA344004652CFHR5c.409A>G (p.Ile137Val)
n.733A>G
c.-24-341A>G (n.-24-341A>G)
c.664A>G (p.Ile222Val)
c.673A>G (p.Ile225Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995773A>TCA344004653CFHR5c.409A>T (p.Ile137Leu)
n.733A>T
c.-24-341A>T (n.-24-341A>T)
c.664A>T (p.Ile222Leu)
c.673A>T (p.Ile225Leu)
1g.196995774T>ACA344004661CFHR5c.410T>A (p.Ile137Lys)
n.734T>A
c.-24-340T>A (n.-24-340T>A)
c.665T>A (p.Ile222Lys)
c.674T>A (p.Ile225Lys)
1g.196995774T>CCA1307831CFHR5c.410T>C (p.Ile137Thr)
n.734T>C
c.-24-340T>C (n.-24-340T>C)
c.665T>C (p.Ile222Thr)
c.674T>C (p.Ile225Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995774T>GCA344004666CFHR5c.410T>G (p.Ile137Arg)
n.734T>G
c.-24-340T>G (n.-24-340T>G)
c.665T>G (p.Ile222Arg)
c.674T>G (p.Ile225Arg)
1g.196995774T=CA1217885046CFHR5c.410T= (p.Ile137=)
n.734T=
c.-24-340T= (n.-24-340T=)
c.665T= (p.Ile222=)
c.674T= (p.Ile225=)
1g.196995775A>CCA422802692CFHR5c.411A>C (p.Ile137=)
n.735A>C
c.-24-339A>C (n.-24-339A>C)
c.666A>C (p.Ile222=)
c.675A>C (p.Ile225=)
1g.196995775A>GCA344004669CFHR5c.411A>G (p.Ile137Met)
n.735A>G
c.-24-339A>G (n.-24-339A>G)
c.666A>G (p.Ile222Met)
c.675A>G (p.Ile225Met)
1g.196995775A>TCA422802693CFHR5c.411A>T (p.Ile137=)
n.735A>T
c.-24-339A>T (n.-24-339A>T)
c.666A>T (p.Ile222=)
c.675A>T (p.Ile225=)
1g.196995776A>CCA422802694CFHR5c.412A>C (p.Arg138=)
n.736A>C
c.-24-338A>C (n.-24-338A>C)
c.667A>C (p.Arg223=)
c.676A>C (p.Arg226=)
 COSMIC COSMIC
1g.196995776A>GCA344004673CFHR5c.412A>G (p.Arg138Gly)
n.736A>G
c.-24-338A>G (n.-24-338A>G)
c.667A>G (p.Arg223Gly)
c.676A>G (p.Arg226Gly)
1g.196995776A>TCA344004676CFHR5c.412A>T (p.Arg138Ter)
n.736A>T
c.-24-338A>T (n.-24-338A>T)
c.667A>T (p.Arg223Ter)
c.676A>T (p.Arg226Ter)
1g.196995777G>ACA344004682CFHR5c.413G>A (p.Arg138Lys)
n.737G>A
c.-24-337G>A (n.-24-337G>A)
c.668G>A (p.Arg223Lys)
c.677G>A (p.Arg226Lys)
 gnomAD v4 COSMIC COSMIC
1g.196995777G>CCA344004684CFHR5c.413G>C (p.Arg138Thr)
n.737G>C
c.-24-337G>C (n.-24-337G>C)
c.668G>C (p.Arg223Thr)
c.677G>C (p.Arg226Thr)
1g.196995777G>TCA344004679CFHR5c.413G>T (p.Arg138Ile)
n.737G>T
c.-24-337G>T (n.-24-337G>T)
c.668G>T (p.Arg223Ile)
c.677G>T (p.Arg226Ile)
1g.196995778A=CA1143910154CFHR5c.414A= (p.Arg138=)
n.738A=
c.-24-336A= (n.-24-336A=)
c.669A= (p.Arg223=)
c.678A= (p.Arg226=)
1g.196995778A>CCA1307832CFHR5c.414A>C (p.Arg138Ser)
n.738A>C
c.-24-336A>C (n.-24-336A>C)
c.669A>C (p.Arg223Ser)
c.678A>C (p.Arg226Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995778A>GCA422802695CFHR5c.414A>G (p.Arg138=)
n.738A>G
c.-24-336A>G (n.-24-336A>G)
c.669A>G (p.Arg223=)
c.678A>G (p.Arg226=)
 dbSNP gnomAD v3 gnomAD v4
1g.196995778A>TCA344004688CFHR5c.414A>T (p.Arg138Ser)
n.738A>T
c.-24-336A>T (n.-24-336A>T)
c.669A>T (p.Arg223Ser)
c.678A>T (p.Arg226Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.196995781delCA2586967831CFHR5c.417del (p.Glu140ArgfsTer8)
n.741del
c.-24-333del (n.-24-333del)
c.672del (p.Glu225ArgfsTer8)
c.681del (p.Glu228ArgfsTer8)
1g.196995779A>CCA344004692CFHR5c.415A>C (p.Lys139Gln)
n.739A>C
c.-24-335A>C (n.-24-335A>C)
c.670A>C (p.Lys224Gln)
c.679A>C (p.Lys227Gln)
 gnomAD v4
1g.196995779A>GCA344004693CFHR5c.415A>G (p.Lys139Glu)
n.739A>G
c.-24-335A>G (n.-24-335A>G)
c.670A>G (p.Lys224Glu)
c.679A>G (p.Lys227Glu)
1g.196995779A>TCA344004696CFHR5c.415A>T (p.Lys139Ter)
n.739A>T
c.-24-335A>T (n.-24-335A>T)
c.670A>T (p.Lys224Ter)
c.679A>T (p.Lys227Ter)
 COSMIC COSMIC
1g.196995780A>CCA344004703CFHR5c.416A>C (p.Lys139Thr)
n.740A>C
c.-24-334A>C (n.-24-334A>C)
c.671A>C (p.Lys224Thr)
c.680A>C (p.Lys227Thr)
1g.196995780A>GCA344004698CFHR5c.416A>G (p.Lys139Arg)
n.740A>G
c.-24-334A>G (n.-24-334A>G)
c.671A>G (p.Lys224Arg)
c.680A>G (p.Lys227Arg)
1g.196995780A>TCA344004700CFHR5c.416A>T (p.Lys139Ile)
n.740A>T
c.-24-334A>T (n.-24-334A>T)
c.671A>T (p.Lys224Ile)
c.680A>T (p.Lys227Ile)
1g.196995781_196995783delCA2649656618CFHR5c.417_419del (p.Glu140del)
n.741_743del
c.-24-333_-24-331del (n.-24-333_-24-331del)
c.672_674del (p.Glu225del)
c.681_683del (p.Glu228del)
 gnomAD v4
1g.196995781A>CCA344004704CFHR5c.417A>C (p.Lys139Asn)
n.741A>C
c.-24-333A>C (n.-24-333A>C)
c.672A>C (p.Lys224Asn)
c.681A>C (p.Lys227Asn)
1g.196995781A>GCA422802696CFHR5c.417A>G (p.Lys139=)
n.741A>G
c.-24-333A>G (n.-24-333A>G)
c.672A>G (p.Lys224=)
c.681A>G (p.Lys227=)
1g.196995781A>TCA344004705CFHR5c.417A>T (p.Lys139Asn)
n.741A>T
c.-24-333A>T (n.-24-333A>T)
c.672A>T (p.Lys224Asn)
c.681A>T (p.Lys227Asn)
1g.196995782G>ACA344004706CFHR5c.418G>A (p.Glu140Lys)
n.742G>A
c.-24-332G>A (n.-24-332G>A)
c.673G>A (p.Glu225Lys)
c.682G>A (p.Glu228Lys)
1g.196995782G>CCA344004707CFHR5c.418G>C (p.Glu140Gln)
n.742G>C
c.-24-332G>C (n.-24-332G>C)
c.673G>C (p.Glu225Gln)
c.682G>C (p.Glu228Gln)
1g.196995782G>TCA344004709CFHR5c.418G>T (p.Glu140Ter)
n.742G>T
c.-24-332G>T (n.-24-332G>T)
c.673G>T (p.Glu225Ter)
c.682G>T (p.Glu228Ter)
1g.196995783A>CCA344004713CFHR5c.419A>C (p.Glu140Ala)
n.743A>C
c.-24-331A>C (n.-24-331A>C)
c.674A>C (p.Glu225Ala)
c.683A>C (p.Glu228Ala)
1g.196995783A>GCA344004711CFHR5c.419A>G (p.Glu140Gly)
n.743A>G
c.-24-331A>G (n.-24-331A>G)
c.674A>G (p.Glu225Gly)
c.683A>G (p.Glu228Gly)
1g.196995783A>TCA344004710CFHR5c.419A>T (p.Glu140Val)
n.743A>T
c.-24-331A>T (n.-24-331A>T)
c.674A>T (p.Glu225Val)
c.683A>T (p.Glu228Val)
1g.196995784G>ACA422802697CFHR5c.420G>A (p.Glu140=)
n.744G>A
c.-24-330G>A (n.-24-330G>A)
c.675G>A (p.Glu225=)
c.684G>A (p.Glu228=)
 gnomAD v4 COSMIC COSMIC
1g.196995784G>CCA344004715CFHR5c.420G>C (p.Glu140Asp)
n.744G>C
c.-24-330G>C (n.-24-330G>C)
c.675G>C (p.Glu225Asp)
c.684G>C (p.Glu228Asp)
 dbSNP
1g.196995784G>TCA344004717CFHR5c.420G>T (p.Glu140Asp)
n.744G>T
c.-24-330G>T (n.-24-330G>T)
c.675G>T (p.Glu225Asp)
c.684G>T (p.Glu228Asp)
1g.196995785G>ACA344004719CFHR5c.421G>A (p.Glu141Lys)
n.745G>A
c.-24-329G>A (n.-24-329G>A)
c.676G>A (p.Glu226Lys)
c.685G>A (p.Glu229Lys)
 COSMIC COSMIC
1g.196995785G>CCA344004722CFHR5c.421G>C (p.Glu141Gln)
n.745G>C
c.-24-329G>C (n.-24-329G>C)
c.676G>C (p.Glu226Gln)
c.685G>C (p.Glu229Gln)
1g.196995785G>TCA344004724CFHR5c.421G>T (p.Glu141Ter)
n.745G>T
c.-24-329G>T (n.-24-329G>T)
c.676G>T (p.Glu226Ter)
c.685G>T (p.Glu229Ter)
1g.196995785_196995786delinsGACA1217885047CFHR5c.421_422delinsGA (p.Glu141=)
n.745_746delinsGA
c.-24-329_-24-328delinsGA (n.-24-329_-24-328delinsGA)
c.676_677delinsGA (p.Glu226=)
c.685_686delinsGA (p.Glu229=)
1g.196995786A>CCA344004731CFHR5c.422A>C (p.Glu141Ala)
n.746A>C
c.-24-328A>C (n.-24-328A>C)
c.677A>C (p.Glu226Ala)
c.686A>C (p.Glu229Ala)
1g.196995786A>GCA344004734CFHR5c.422A>G (p.Glu141Gly)
n.746A>G
c.-24-328A>G (n.-24-328A>G)
c.677A>G (p.Glu226Gly)
c.686A>G (p.Glu229Gly)
1g.196995786A>TCA344004737CFHR5c.422A>T (p.Glu141Val)
n.746A>T
c.-24-328A>T (n.-24-328A>T)
c.677A>T (p.Glu226Val)
c.686A>T (p.Glu229Val)
1g.196995786_196995787delinsAACA1143582895CFHR5c.422_423delinsAA (p.Glu141=)
n.746_747delinsAA
c.-24-328_-24-327delinsAA (n.-24-328_-24-327delinsAA)
c.677_678delinsAA (p.Glu226=)
c.686_687delinsAA (p.Glu229=)
1g.196995787delCA1307833CFHR5c.423del (p.Glu141AspfsTer7)
n.747del
c.-24-327del (n.-24-327del)
c.678del (p.Glu226AspfsTer7)
c.687del (p.Glu229AspfsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995787A=CA1217885048CFHR5c.423A= (p.Glu141=)
n.747A=
c.-24-327A= (n.-24-327A=)
c.678A= (p.Glu226=)
c.687A= (p.Glu229=)
1g.196995787A>CCA1307834CFHR5c.423A>C (p.Glu141Asp)
n.747A>C
c.-24-327A>C (n.-24-327A>C)
c.678A>C (p.Glu226Asp)
c.687A>C (p.Glu229Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995787A>GCA422802699CFHR5c.423A>G (p.Glu141=)
n.747A>G
c.-24-327A>G (n.-24-327A>G)
c.678A>G (p.Glu226=)
c.687A>G (p.Glu229=)
1g.196995787A>TCA344004744CFHR5c.423A>T (p.Glu141Asp)
n.747A>T
c.-24-327A>T (n.-24-327A>T)
c.678A>T (p.Glu226Asp)
c.687A>T (p.Glu229Asp)
1g.196995788T>ACA344004752CFHR5c.424T>A (p.Tyr142Asn)
n.748T>A
c.-24-326T>A (n.-24-326T>A)
c.679T>A (p.Tyr227Asn)
c.688T>A (p.Tyr230Asn)
1g.196995788T>CCA344004750CFHR5c.424T>C (p.Tyr142His)
n.748T>C
c.-24-326T>C (n.-24-326T>C)
c.679T>C (p.Tyr227His)
c.688T>C (p.Tyr230His)
1g.196995788T>GCA344004747CFHR5c.424T>G (p.Tyr142Asp)
n.748T>G
c.-24-326T>G (n.-24-326T>G)
c.679T>G (p.Tyr227Asp)
c.688T>G (p.Tyr230Asp)
1g.196995789A=CA1217885049CFHR5c.425A= (p.Tyr142=)
n.749A=
c.-24-325A= (n.-24-325A=)
c.680A= (p.Tyr227=)
c.689A= (p.Tyr230=)
1g.196995789A>CCA344004754CFHR5c.425A>C (p.Tyr142Ser)
n.749A>C
c.-24-325A>C (n.-24-325A>C)
c.680A>C (p.Tyr227Ser)
c.689A>C (p.Tyr230Ser)
1g.196995789A>GCA344004755CFHR5c.425A>G (p.Tyr142Cys)
n.749A>G
c.-24-325A>G (n.-24-325A>G)
c.680A>G (p.Tyr227Cys)
c.689A>G (p.Tyr230Cys)
 dbSNP
1g.196995789A>TCA344004757CFHR5c.425A>T (p.Tyr142Phe)
n.749A>T
c.-24-325A>T (n.-24-325A>T)
c.680A>T (p.Tyr227Phe)
c.689A>T (p.Tyr230Phe)
1g.196995790T>ACA344004760CFHR5c.426T>A (p.Tyr142Ter)
n.750T>A
c.-24-324T>A (n.-24-324T>A)
c.681T>A (p.Tyr227Ter)
c.690T>A (p.Tyr230Ter)
1g.196995790T>CCA1307835CFHR5c.426T>C (p.Tyr142=)
n.750T>C
c.-24-324T>C (n.-24-324T>C)
c.681T>C (p.Tyr227=)
c.690T>C (p.Tyr230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995790T>GCA1307836CFHR5c.426T>G (p.Tyr142Ter)
n.750T>G
c.-24-324T>G (n.-24-324T>G)
c.681T>G (p.Tyr227Ter)
c.690T>G (p.Tyr230Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995790T=CA1217885050CFHR5c.426T= (p.Tyr142=)
n.750T=
c.-24-324T= (n.-24-324T=)
c.681T= (p.Tyr227=)
c.690T= (p.Tyr230=)
1g.196995791G>ACA344004769CFHR5c.427G>A (p.Gly143Arg)
n.751G>A
c.-24-323G>A (n.-24-323G>A)
c.682G>A (p.Gly228Arg)
c.691G>A (p.Gly231Arg)
1g.196995791G>CCA344004770CFHR5c.427G>C (p.Gly143Arg)
n.751G>C
c.-24-323G>C (n.-24-323G>C)
c.682G>C (p.Gly228Arg)
c.691G>C (p.Gly231Arg)
1g.196995791G>TCA344004773CFHR5c.427G>T (p.Gly143Ter)
n.751G>T
c.-24-323G>T (n.-24-323G>T)
c.682G>T (p.Gly228Ter)
c.691G>T (p.Gly231Ter)
1g.196995792G>ACA344004777CFHR5c.428G>A (p.Gly143Glu)
n.752G>A
c.-24-322G>A (n.-24-322G>A)
c.683G>A (p.Gly228Glu)
c.692G>A (p.Gly231Glu)
1g.196995792G>CCA1307837CFHR5c.428G>C (p.Gly143Ala)
n.752G>C
c.-24-322G>C (n.-24-322G>C)
c.683G>C (p.Gly228Ala)
c.692G>C (p.Gly231Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995792G=CA1144174593CFHR5c.428G= (p.Gly143=)
n.752G=
c.-24-322G= (n.-24-322G=)
c.683G= (p.Gly228=)
c.692G= (p.Gly231=)
1g.196995792G>TCA344004779CFHR5c.428G>T (p.Gly143Val)
n.752G>T
c.-24-322G>T (n.-24-322G>T)
c.683G>T (p.Gly228Val)
c.692G>T (p.Gly231Val)
1g.196995793A=CA1217885051CFHR5c.429A= (p.Gly143=)
n.753A=
c.-24-321A= (n.-24-321A=)
c.684A= (p.Gly228=)
c.693A= (p.Gly231=)
1g.196995793A>CCA422802706CFHR5c.429A>C (p.Gly143=)
n.753A>C
c.-24-321A>C (n.-24-321A>C)
c.684A>C (p.Gly228=)
c.693A>C (p.Gly231=)
1g.196995793A>GCA422802707CFHR5c.429A>G (p.Gly143=)
n.753A>G
c.-24-321A>G (n.-24-321A>G)
c.684A>G (p.Gly228=)
c.693A>G (p.Gly231=)
 dbSNP gnomAD v2
1g.196995793A>TCA422802708CFHR5c.429A>T (p.Gly143=)
n.753A>T
c.-24-321A>T (n.-24-321A>T)
c.684A>T (p.Gly228=)
c.693A>T (p.Gly231=)
1g.196995794C>ACA344004785CFHR5c.430C>A (p.His144Asn)
n.754C>A
c.-24-320C>A (n.-24-320C>A)
c.685C>A (p.His229Asn)
c.694C>A (p.His232Asn)
1g.196995794C=CA1217885052CFHR5c.430C= (p.His144=)
n.754C=
c.-24-320C= (n.-24-320C=)
c.685C= (p.His229=)
c.694C= (p.His232=)
1g.196995794C>GCA344004787CFHR5c.430C>G (p.His144Asp)
n.754C>G
c.-24-320C>G (n.-24-320C>G)
c.685C>G (p.His229Asp)
c.694C>G (p.His232Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.196995794C>TCA344004783CFHR5c.430C>T (p.His144Tyr)
n.754C>T
c.-24-320C>T (n.-24-320C>T)
c.685C>T (p.His229Tyr)
c.694C>T (p.His232Tyr)
1g.196995795A>CCA344004790CFHR5c.431A>C (p.His144Pro)
n.755A>C
c.-24-319A>C (n.-24-319A>C)
c.686A>C (p.His229Pro)
c.695A>C (p.His232Pro)
1g.196995795A>GCA344004792CFHR5c.431A>G (p.His144Arg)
n.755A>G
c.-24-319A>G (n.-24-319A>G)
c.686A>G (p.His229Arg)
c.695A>G (p.His232Arg)
1g.196995795A>TCA344004793CFHR5c.431A>T (p.His144Leu)
n.755A>T
c.-24-319A>T (n.-24-319A>T)
c.686A>T (p.His229Leu)
c.695A>T (p.His232Leu)
1g.196995796C>ACA344004796CFHR5c.432C>A (p.His144Gln)
n.756C>A
c.-24-318C>A (n.-24-318C>A)
c.687C>A (p.His229Gln)
c.696C>A (p.His232Gln)
 COSMIC COSMIC
1g.196995796C>GCA344004798CFHR5c.432C>G (p.His144Gln)
n.756C>G
c.-24-318C>G (n.-24-318C>G)
c.687C>G (p.His229Gln)
c.696C>G (p.His232Gln)
1g.196995796C>TCA422802714CFHR5c.432C>T (p.His144=)
n.756C>T
c.-24-318C>T (n.-24-318C>T)
c.687C>T (p.His229=)
c.696C>T (p.His232=)
1g.196995797A=CA1217885053CFHR5c.433A= (p.Asn145=)
n.757A=
c.-24-317A= (n.-24-317A=)
c.688A= (p.Asn230=)
c.697A= (p.Asn233=)
1g.196995797A>CCA344004805CFHR5c.433A>C (p.Asn145His)
n.757A>C
c.-24-317A>C (n.-24-317A>C)
c.688A>C (p.Asn230His)
c.697A>C (p.Asn233His)
 gnomAD v4
1g.196995797A>GCA344004801CFHR5c.433A>G (p.Asn145Asp)
n.757A>G
c.-24-317A>G (n.-24-317A>G)
c.688A>G (p.Asn230Asp)
c.697A>G (p.Asn233Asp)
 dbSNP gnomAD v4
1g.196995797A>TCA344004803CFHR5c.433A>T (p.Asn145Tyr)
n.757A>T
c.-24-317A>T (n.-24-317A>T)
c.688A>T (p.Asn230Tyr)
c.697A>T (p.Asn233Tyr)
1g.196995798A=CA1217885054CFHR5c.434A= (p.Asn145=)
n.758A=
c.-24-316A= (n.-24-316A=)
c.689A= (p.Asn230=)
c.698A= (p.Asn233=)
1g.196995798A>CCA344004808CFHR5c.434A>C (p.Asn145Thr)
n.758A>C
c.-24-316A>C (n.-24-316A>C)
c.689A>C (p.Asn230Thr)
c.698A>C (p.Asn233Thr)
1g.196995798A>GCA344004809CFHR5c.434A>G (p.Asn145Ser)
n.758A>G
c.-24-316A>G (n.-24-316A>G)
c.689A>G (p.Asn230Ser)
c.698A>G (p.Asn233Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995798A>TCA344004810CFHR5c.434A>T (p.Asn145Ile)
n.758A>T
c.-24-316A>T (n.-24-316A>T)
c.689A>T (p.Asn230Ile)
c.698A>T (p.Asn233Ile)
1g.196995799T>ACA1307838CFHR5c.435T>A (p.Asn145Lys)
n.759T>A
c.-24-315T>A (n.-24-315T>A)
c.690T>A (p.Asn230Lys)
c.699T>A (p.Asn233Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995799T>CCA422802716CFHR5c.435T>C (p.Asn145=)
n.759T>C
c.-24-315T>C (n.-24-315T>C)
c.690T>C (p.Asn230=)
c.699T>C (p.Asn233=)
 gnomAD v4
1g.196995799T>GCA344004812CFHR5c.435T>G (p.Asn145Lys)
n.759T>G
c.-24-315T>G (n.-24-315T>G)
c.690T>G (p.Asn230Lys)
c.699T>G (p.Asn233Lys)
1g.196995799T=CA1217885055CFHR5c.435T= (p.Asn145=)
n.759T=
c.-24-315T= (n.-24-315T=)
c.690T= (p.Asn230=)
c.699T= (p.Asn233=)
1g.196995800G>ACA344004814CFHR5c.436G>A (p.Glu146Lys)
n.760G>A
c.-24-314G>A (n.-24-314G>A)
c.691G>A (p.Glu231Lys)
c.700G>A (p.Glu234Lys)
 gnomAD v4
1g.196995800G>CCA344004819CFHR5c.436G>C (p.Glu146Gln)
n.760G>C
c.-24-314G>C (n.-24-314G>C)
c.691G>C (p.Glu231Gln)
c.700G>C (p.Glu234Gln)
1g.196995800G>TCA344004818CFHR5c.436G>T (p.Glu146Ter)
n.760G>T
c.-24-314G>T (n.-24-314G>T)
c.691G>T (p.Glu231Ter)
c.700G>T (p.Glu234Ter)
1g.196995801A>CCA344004821CFHR5c.437A>C (p.Glu146Ala)
n.761A>C
c.-24-313A>C (n.-24-313A>C)
c.692A>C (p.Glu231Ala)
c.701A>C (p.Glu234Ala)
1g.196995801A>GCA344004823CFHR5c.437A>G (p.Glu146Gly)
n.761A>G
c.-24-313A>G (n.-24-313A>G)
c.692A>G (p.Glu231Gly)
c.701A>G (p.Glu234Gly)
1g.196995801A>TCA344004824CFHR5c.437A>T (p.Glu146Val)
n.761A>T
c.-24-313A>T (n.-24-313A>T)
c.692A>T (p.Glu231Val)
c.701A>T (p.Glu234Val)
1g.196995802A>CCA344004826CFHR5c.438A>C (p.Glu146Asp)
n.762A>C
c.-24-312A>C (n.-24-312A>C)
c.693A>C (p.Glu231Asp)
c.702A>C (p.Glu234Asp)
1g.196995802A>GCA422802720CFHR5c.438A>G (p.Glu146=)
n.762A>G
c.-24-312A>G (n.-24-312A>G)
c.693A>G (p.Glu231=)
c.702A>G (p.Glu234=)
1g.196995802A>TCA344004829CFHR5c.438A>T (p.Glu146Asp)
n.762A>T
c.-24-312A>T (n.-24-312A>T)
c.693A>T (p.Glu231Asp)
c.702A>T (p.Glu234Asp)
1g.196995803G>ACA344004832CFHR5c.439G>A (p.Val147Ile)
n.763G>A
c.-24-311G>A (n.-24-311G>A)
c.694G>A (p.Val232Ile)
c.703G>A (p.Val235Ile)
 gnomAD v4
1g.196995803G>CCA344004833CFHR5c.439G>C (p.Val147Leu)
n.763G>C
c.-24-311G>C (n.-24-311G>C)
c.694G>C (p.Val232Leu)
c.703G>C (p.Val235Leu)
1g.196995803G>TCA344004834CFHR5c.439G>T (p.Val147Leu)
n.763G>T
c.-24-311G>T (n.-24-311G>T)
c.694G>T (p.Val232Leu)
c.703G>T (p.Val235Leu)
1g.196995804T>ACA344004836CFHR5c.440T>A (p.Val147Glu)
n.764T>A
c.-24-310T>A (n.-24-310T>A)
c.695T>A (p.Val232Glu)
c.704T>A (p.Val235Glu)
1g.196995804T>CCA344004838CFHR5c.440T>C (p.Val147Ala)
n.764T>C
c.-24-310T>C (n.-24-310T>C)
c.695T>C (p.Val232Ala)
c.704T>C (p.Val235Ala)
 gnomAD v4
1g.196995804T>GCA344004839CFHR5c.440T>G (p.Val147Gly)
n.764T>G
c.-24-310T>G (n.-24-310T>G)
c.695T>G (p.Val232Gly)
c.704T>G (p.Val235Gly)
1g.196995805A=CA1148259568CFHR5c.441A= (p.Val147=)
n.765A=
c.-24-309A= (n.-24-309A=)
c.696A= (p.Val232=)
c.705A= (p.Val235=)
1g.196995805A>CCA422802724CFHR5c.441A>C (p.Val147=)
n.765A>C
c.-24-309A>C (n.-24-309A>C)
c.696A>C (p.Val232=)
c.705A>C (p.Val235=)
1g.196995805A>GCA1307839CFHR5c.441A>G (p.Val147=)
n.765A>G
c.-24-309A>G (n.-24-309A>G)
c.696A>G (p.Val232=)
c.705A>G (p.Val235=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.196995805A>TCA422802725CFHR5c.441A>T (p.Val147=)
n.765A>T
c.-24-309A>T (n.-24-309A>T)
c.696A>T (p.Val232=)
c.705A>T (p.Val235=)
1g.196995806G>ACA344004844CFHR5c.442G>A (p.Val148Met)
n.766G>A
c.-24-308G>A (n.-24-308G>A)
c.697G>A (p.Val233Met)
c.706G>A (p.Val236Met)
1g.196995806G>CCA344004846CFHR5c.442G>C (p.Val148Leu)
n.766G>C
c.-24-308G>C (n.-24-308G>C)
c.697G>C (p.Val233Leu)
c.706G>C (p.Val236Leu)
1g.196995806G>TCA344004842CFHR5c.442G>T (p.Val148Leu)
n.766G>T
c.-24-308G>T (n.-24-308G>T)
c.697G>T (p.Val233Leu)
c.706G>T (p.Val236Leu)
1g.196995807T>ACA344004850CFHR5c.443T>A (p.Val148Glu)
n.767T>A
c.-24-307T>A (n.-24-307T>A)
c.698T>A (p.Val233Glu)
c.707T>A (p.Val236Glu)
1g.196995807T>CCA344004849CFHR5c.443T>C (p.Val148Ala)
n.767T>C
c.-24-307T>C (n.-24-307T>C)
c.698T>C (p.Val233Ala)
c.707T>C (p.Val236Ala)
1g.196995807T>GCA344004852CFHR5c.443T>G (p.Val148Gly)
n.767T>G
c.-24-307T>G (n.-24-307T>G)
c.698T>G (p.Val233Gly)
c.707T>G (p.Val236Gly)
1g.196995808G>ACA422802728CFHR5c.444G>A (p.Val148=)
n.768G>A
c.-24-306G>A (n.-24-306G>A)
c.699G>A (p.Val233=)
c.708G>A (p.Val236=)
 COSMIC COSMIC
1g.196995808G>CCA422802729CFHR5c.444G>C (p.Val148=)
n.768G>C
c.-24-306G>C (n.-24-306G>C)
c.699G>C (p.Val233=)
c.708G>C (p.Val236=)
1g.196995808G>TCA422802730CFHR5c.444G>T (p.Val148=)
n.768G>T
c.-24-306G>T (n.-24-306G>T)
c.699G>T (p.Val233=)
c.708G>T (p.Val236=)
1g.196995809G>ACA1307840CFHR5c.445G>A (p.Glu149Lys)
n.769G>A
c.-24-305G>A (n.-24-305G>A)
c.700G>A (p.Glu234Lys)
c.709G>A (p.Glu237Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.196995809G>CCA344004855CFHR5c.445G>C (p.Glu149Gln)
n.769G>C
c.-24-305G>C (n.-24-305G>C)
c.700G>C (p.Glu234Gln)
c.709G>C (p.Glu237Gln)
1g.196995809G=CA1217885056CFHR5c.445G= (p.Glu149=)
n.769G=
c.-24-305G= (n.-24-305G=)
c.700G= (p.Glu234=)
c.709G= (p.Glu237=)
1g.196995809G>TCA344004857CFHR5c.445G>T (p.Glu149Ter)
n.769G>T
c.-24-305G>T (n.-24-305G>T)
c.700G>T (p.Glu234Ter)
c.709G>T (p.Glu237Ter)
 COSMIC COSMIC
1g.196995810A>CCA344004859CFHR5c.446A>C (p.Glu149Ala)
n.770A>C
c.-24-304A>C (n.-24-304A>C)
c.701A>C (p.Glu234Ala)
c.710A>C (p.Glu237Ala)
1g.196995810A>GCA344004862CFHR5c.446A>G (p.Glu149Gly)
n.770A>G
c.-24-304A>G (n.-24-304A>G)
c.701A>G (p.Glu234Gly)
c.710A>G (p.Glu237Gly)
1g.196995810A>TCA344004864CFHR5c.446A>T (p.Glu149Val)
n.770A>T
c.-24-304A>T (n.-24-304A>T)
c.701A>T (p.Glu234Val)
c.710A>T (p.Glu237Val)
1g.196995811A>CCA344004865CFHR5c.447A>C (p.Glu149Asp)
n.771A>C
c.-24-303A>C (n.-24-303A>C)
c.702A>C (p.Glu234Asp)
c.711A>C (p.Glu237Asp)
1g.196995811A>GCA422802736CFHR5c.447A>G (p.Glu149=)
n.771A>G
c.-24-303A>G (n.-24-303A>G)
c.702A>G (p.Glu234=)
c.711A>G (p.Glu237=)
1g.196995811A>TCA344004866CFHR5c.447A>T (p.Glu149Asp)
n.771A>T
c.-24-303A>T (n.-24-303A>T)
c.702A>T (p.Glu234Asp)
c.711A>T (p.Glu237Asp)
1g.196995812T>ACA344004867CFHR5c.448T>A (p.Tyr150Asn)
n.772T>A
c.-24-302T>A (n.-24-302T>A)
c.703T>A (p.Tyr235Asn)
c.712T>A (p.Tyr238Asn)
1g.196995812T>CCA344004869CFHR5c.448T>C (p.Tyr150His)
n.772T>C
c.-24-302T>C (n.-24-302T>C)
c.703T>C (p.Tyr235His)
c.712T>C (p.Tyr238His)
 ClinVar dbSNP
1g.196995812T>GCA344004871CFHR5c.448T>G (p.Tyr150Asp)
n.772T>G
c.-24-302T>G (n.-24-302T>G)
c.703T>G (p.Tyr235Asp)
c.712T>G (p.Tyr238Asp)
1g.196995812T=CA1217885057CFHR5c.448T= (p.Tyr150=)
n.772T=
c.-24-302T= (n.-24-302T=)
c.703T= (p.Tyr235=)
c.712T= (p.Tyr238=)
1g.196995813A>CCA344004873CFHR5c.449A>C (p.Tyr150Ser)
n.773A>C
c.-24-301A>C (n.-24-301A>C)
c.704A>C (p.Tyr235Ser)
c.713A>C (p.Tyr238Ser)
1g.196995813A>GCA344004874CFHR5c.449A>G (p.Tyr150Cys)
n.773A>G
c.-24-301A>G (n.-24-301A>G)
c.704A>G (p.Tyr235Cys)
c.713A>G (p.Tyr238Cys)
1g.196995813A>TCA344004875CFHR5c.449A>T (p.Tyr150Phe)
n.773A>T
c.-24-301A>T (n.-24-301A>T)
c.704A>T (p.Tyr235Phe)
c.713A>T (p.Tyr238Phe)
1g.196995814T>ACA344004876CFHR5c.450T>A (p.Tyr150Ter)
n.774T>A
c.-24-300T>A (n.-24-300T>A)
c.705T>A (p.Tyr235Ter)
c.714T>A (p.Tyr238Ter)
1g.196995814T>CCA422802741CFHR5c.450T>C (p.Tyr150=)
n.774T>C
c.-24-300T>C (n.-24-300T>C)
c.705T>C (p.Tyr235=)
c.714T>C (p.Tyr238=)
1g.196995814T>GCA344004877CFHR5c.450T>G (p.Tyr150Ter)
n.774T>G
c.-24-300T>G (n.-24-300T>G)
c.705T>G (p.Tyr235Ter)
c.714T>G (p.Tyr238Ter)
1g.196995815G>ACA35878287CFHR5c.451G>A (p.Asp151Asn)
n.775G>A
c.-24-299G>A (n.-24-299G>A)
c.706G>A (p.Asp236Asn)
c.715G>A (p.Asp239Asn)
 dbSNP
1g.196995815G>CCA344004878CFHR5c.451G>C (p.Asp151His)
n.775G>C
c.-24-299G>C (n.-24-299G>C)
c.706G>C (p.Asp236His)
c.715G>C (p.Asp239His)
1g.196995815G=CA1217885058CFHR5c.451G= (p.Asp151=)
n.775G=
c.-24-299G= (n.-24-299G=)
c.706G= (p.Asp236=)
c.715G= (p.Asp239=)
1g.196995815G>TCA344004879CFHR5c.451G>T (p.Asp151Tyr)
n.775G>T
c.-24-299G>T (n.-24-299G>T)
c.706G>T (p.Asp236Tyr)
c.715G>T (p.Asp239Tyr)
 gnomAD v4
1g.196995816A=CA1217885059CFHR5c.452A= (p.Asp151=)
n.776A=
c.-24-298A= (n.-24-298A=)
c.707A= (p.Asp236=)
c.716A= (p.Asp239=)
1g.196995816A>CCA344004882CFHR5c.452A>C (p.Asp151Ala)
n.776A>C
c.-24-298A>C (n.-24-298A>C)
c.707A>C (p.Asp236Ala)
c.716A>C (p.Asp239Ala)
1g.196995816A>GCA344004883CFHR5c.452A>G (p.Asp151Gly)
n.776A>G
c.-24-298A>G (n.-24-298A>G)
c.707A>G (p.Asp236Gly)
c.716A>G (p.Asp239Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.196995816A>TCA344004884CFHR5c.452A>T (p.Asp151Val)
n.776A>T
c.-24-298A>T (n.-24-298A>T)
c.707A>T (p.Asp236Val)
c.716A>T (p.Asp239Val)
 COSMIC COSMIC
1g.196995817T>ACA344004888CFHR5c.453T>A (p.Asp151Glu)
n.777T>A
c.-24-297T>A (n.-24-297T>A)
c.708T>A (p.Asp236Glu)
c.717T>A (p.Asp239Glu)
1g.196995817T>CCA422802745CFHR5c.453T>C (p.Asp151=)
n.777T>C
c.-24-297T>C (n.-24-297T>C)
c.708T>C (p.Asp236=)
c.717T>C (p.Asp239=)
1g.196995817T>GCA344004889CFHR5c.453T>G (p.Asp151Glu)
n.777T>G
c.-24-297T>G (n.-24-297T>G)
c.708T>G (p.Asp236Glu)
c.717T>G (p.Asp239Glu)
1g.196995818T>ACA344004892CFHR5c.454T>A (p.Cys152Ser)
n.778T>A
c.-24-296T>A (n.-24-296T>A)
c.709T>A (p.Cys237Ser)
c.718T>A (p.Cys240Ser)
1g.196995818T>CCA344004894CFHR5c.454T>C (p.Cys152Arg)
n.778T>C
c.-24-296T>C (n.-24-296T>C)
c.709T>C (p.Cys237Arg)
c.718T>C (p.Cys240Arg)
1g.196995818T>GCA344004896CFHR5c.454T>G (p.Cys152Gly)
n.778T>G
c.-24-296T>G (n.-24-296T>G)
c.709T>G (p.Cys237Gly)
c.718T>G (p.Cys240Gly)
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)

Number of alleles fetched