Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.196747260C>TCA1305996CFHn.4671C>T
c.3469C>T (p.Arg1157Ter)
c.3622C>T (p.Arg1208Ter)
c.*720C>T (n.*720C>T)
c.*2007C>T (n.*2007C>T)
c.3466C>T (p.Arg1156Ter)
c.*1770C>T (n.*1770C>T)
c.3454C>T (p.Arg1152Ter)
c.3580+63C>T (n.3580+63C>T)
c.1651C>T (p.Arg551Ter)
c.*3294C>T (n.*3294C>T)
n.677C>T
c.*1925C>T (n.*1925C>T)
c.3637C>T (p.Arg1213Ter)
c.3571C>T (p.Arg1191Ter)
c.*3161C>T (n.*3161C>T)
c.1160-32537C>T (n.1160-32537C>T)
c.3643C>T (p.Arg1215Ter)
n.6741C>T
n.3829C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.196747260C>GCA257490CFHn.4671C>G
c.3469C>G (p.Arg1157Gly)
c.3622C>G (p.Arg1208Gly)
c.*720C>G (n.*720C>G)
c.*2007C>G (n.*2007C>G)
c.3466C>G (p.Arg1156Gly)
c.*1770C>G (n.*1770C>G)
c.3454C>G (p.Arg1152Gly)
c.3580+63C>G (n.3580+63C>G)
c.1651C>G (p.Arg551Gly)
c.*3294C>G (n.*3294C>G)
n.677C>G
c.*1925C>G (n.*1925C>G)
c.3637C>G (p.Arg1213Gly)
c.3571C>G (p.Arg1191Gly)
c.*3161C>G (n.*3161C>G)
c.1160-32537C>G (n.1160-32537C>G)
c.3643C>G (p.Arg1215Gly)
n.6741C>G
n.3829C>G
ClinVar dbSNP gnomAD v4

Number of alleles fetched