| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712015C>T | CA213414 | NOD2 | c.2023C>T (p.Arg675Trp) c.2104C>T (p.Arg702Trp) c.1600C>T (p.Arg534Trp) c.1438C>T (p.Arg480Trp) n.2113C>T c.1531C>T (p.Arg511Trp) n.2066C>T n.2088C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712015C= | CA2221862477 | NOD2 | c.2023C= (p.Arg675=) c.2104C= (p.Arg702=) c.1600C= (p.Arg534=) c.1438C= (p.Arg480=) n.2113C= c.1531C= (p.Arg511=) n.2066C= n.2088C= | dbSNP |