Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50729870del | CA721363865 | NOD2 | c.*52del (n.*52del) c.*703del (n.*703del) n.2416del c.2938del (p.Glu981LysfsTer18) c.3019del (p.Glu1008LysfsTer18) c.2854del (p.Glu953LysfsTer18) c.2515del (p.Glu840LysfsTer18) c.2353del (p.Glu786LysfsTer18) c.2446del (p.Glu817LysfsTer18) n.3150del | dbSNP |
16 | g.50729870dup | CA129325 | NOD2 | c.*52dup (n.*52dup) c.*703dup (n.*703dup) n.2416dup c.2938dup (p.Leu980ProfsTer2) c.3019dup (p.Leu1007ProfsTer2) c.2854dup (p.Leu952ProfsTer2) c.2515dup (p.Leu839ProfsTer2) c.2353dup (p.Leu785ProfsTer2) c.2446dup (p.Leu816ProfsTer2) n.3150dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |