| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27366881G>A | CA1576662 | EIF2B4,GTF3C2-AS2 | c.1069C>T (p.Arg357Trp) c.*335C>T (n.*335C>T) c.643C>T c.1066C>T (p.Arg356Trp) c.1129C>T (p.Arg377Trp) n.2970C>T c.1132C>T (p.Arg378Trp) c.1060C>T (p.Arg354Trp) c.1024C>T (p.Arg342Trp) c.1021C>T (p.Arg341Trp) c.451C>T (p.Arg151Trp) n.1772-543G>A c.976C>T (p.Arg326Trp) c.484C>T (p.Arg162Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.27366881G= | CA1240244536 | EIF2B4,GTF3C2-AS2 | c.1069C= (p.Arg357=) c.*335C= (n.*335C=) c.643C= c.1066C= (p.Arg356=) c.1129C= (p.Arg377=) n.2970C= c.1132C= (p.Arg378=) c.1060C= (p.Arg354=) c.1024C= (p.Arg342=) c.1021C= (p.Arg341=) c.451C= (p.Arg151=) n.1772-543G= c.976C= (p.Arg326=) c.484C= (p.Arg162=) | dbSNP |