Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.196747260C>T | CA1305996 | CFH | n.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 |
1 | g.196747260C>G | CA257490 | CFH | n.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 |