| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162268127T>G | CA348990753 | IFIH1 | c.*2364A>C (n.*2364A>C) c.2650A>C (p.Ile884Leu) n.11A>C n.2377A>C c.2767A>C (p.Ile923Leu) c.2455A>C (p.Ile819Leu) c.2050A>C (p.Ile684Leu) | dbSNP |
| 2 | g.162268127T>C | CA1934084 | IFIH1 | c.*2364A>G (n.*2364A>G) c.2650A>G (p.Ile884Val) n.11A>G n.2377A>G c.2767A>G (p.Ile923Val) c.2455A>G (p.Ile819Val) c.2050A>G (p.Ile684Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |