| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162267541C>T | CA1934058 | IFIH1 | c.*2433G>A (n.*2433G>A) c.2719G>A (p.Ala907Thr) n.597G>A n.2446G>A c.2836G>A (p.Ala946Thr) c.2524G>A (p.Ala842Thr) c.2119G>A (p.Ala707Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162267541C= | CA1303141333 | IFIH1 | c.*2433G= (n.*2433G=) c.2719G= (p.Ala907=) n.597G= n.2446G= c.2836G= (p.Ala946=) c.2524G= (p.Ala842=) c.2119G= (p.Ala707=) | dbSNP |