| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.113132796C>T | CA1838906 | IL1RN | c.357C>T (p.Asp119=) c.*229C>T (n.*229C>T) n.404C>T c.459C>T (p.Asp153=) c.468C>T (p.Asp156=) c.405C>T (p.Asp135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132796C= | CA1280073351 | IL1RN | c.357C= (p.Asp119=) c.*229C= (n.*229C=) n.404C= c.459C= (p.Asp153=) c.468C= (p.Asp156=) c.405C= (p.Asp135=) | dbSNP |