| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712357G>A | CA10590109 | NOD2 | c.2365G>A (p.Val789Ile) c.164G>A c.2446G>A (p.Val816Ile) c.1942G>A (p.Val648Ile) c.1780G>A (p.Val594Ile) n.2455G>A c.1873G>A (p.Val625Ile) n.2408G>A n.2430G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.50712357G= | CA2221863111 | NOD2 | c.2365G= (p.Val789=) c.164G= c.2446G= (p.Val816=) c.1942G= (p.Val648=) c.1780G= (p.Val594=) n.2455G= c.1873G= (p.Val625=) n.2408G= n.2430G= | dbSNP |