Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50729870delCA721363865NOD2c.*52del (n.*52del)
c.*703del (n.*703del)
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
16g.50729870dupCA129325NOD2c.*52dup (n.*52dup)
c.*703dup (n.*703dup)
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 dbSNP dbSNP ExAC gnomAD COSMIC

Number of alleles fetched