| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712108G>A | CA8051720 | NOD2 | c.2116G>A (p.Val706Met) c.2197G>A (p.Val733Met) c.1693G>A (p.Val565Met) c.1531G>A (p.Val511Met) n.2206G>A c.1624G>A (p.Val542Met) n.2159G>A n.2181G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.50712108G>T | CA10590111 | NOD2 | c.2116G>T (p.Val706Leu) c.2197G>T (p.Val733Leu) c.1693G>T (p.Val565Leu) c.1531G>T (p.Val511Leu) n.2206G>T c.1624G>T (p.Val542Leu) n.2159G>T n.2181G>T | ClinVar dbSNP |
| 16 | g.50712108G= | CA2221862651 | NOD2 | c.2116G= (p.Val706=) c.2197G= (p.Val733=) c.1693G= (p.Val565=) c.1531G= (p.Val511=) n.2206G= c.1624G= (p.Val542=) n.2159G= n.2181G= | dbSNP |