| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.50712288G>T | CA395872024 | NOD2 | c.2296G>T (p.Val766Leu) c.95G>T c.2377G>T (p.Val793Leu) c.1873G>T (p.Val625Leu) c.1711G>T (p.Val571Leu) n.2386G>T c.1804G>T (p.Val602Leu) n.2339G>T n.2361G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50712288G>A | CA150265 | NOD2 | c.2296G>A (p.Val766Met) c.95G>A c.2377G>A (p.Val793Met) c.1873G>A (p.Val625Met) c.1711G>A (p.Val571Met) n.2386G>A c.1804G>A (p.Val602Met) n.2339G>A n.2361G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |