| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162273914G>A | CA163192 | IFIH1 | c.*1932C>T (n.*1932C>T) c.2218C>T (p.Arg740Cys) n.1945C>T c.2335C>T (p.Arg779Cys) c.2023C>T (p.Arg675Cys) c.1618C>T (p.Arg540Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.162273914G= | CA1303146363 | IFIH1 | c.*1932C= (n.*1932C=) c.2218C= (p.Arg740=) n.1945C= c.2335C= (p.Arg779=) c.2023C= (p.Arg675=) c.1618C= (p.Arg540=) | dbSNP |