Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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=)

Number of alleles fetched