| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712018C>T | CA202825 | NOD2 | c.2026C>T (p.Arg676Cys) c.2107C>T (p.Arg703Cys) c.1603C>T (p.Arg535Cys) c.1441C>T (p.Arg481Cys) n.2116C>T c.1534C>T (p.Arg512Cys) n.2069C>T n.2091C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712018C>G | CA8051693 | NOD2 | c.2026C>G (p.Arg676Gly) c.2107C>G (p.Arg703Gly) c.1603C>G (p.Arg535Gly) c.1441C>G (p.Arg481Gly) n.2116C>G c.1534C>G (p.Arg512Gly) n.2069C>G n.2091C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50712018C= | CA2221862490 | NOD2 | c.2026C= (p.Arg676=) c.2107C= (p.Arg703=) c.1603C= (p.Arg535=) c.1441C= (p.Arg481=) n.2116C= c.1534C= (p.Arg512=) n.2069C= n.2091C= | dbSNP |