| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162282494T>G | CA349002915 | IFIH1 | c.*775A>C (n.*775A>C) c.1178A>C (p.Asp393Ala) n.788A>C c.866A>C (p.Asp289Ala) c.461A>C (p.Asp154Ala) | ClinVar dbSNP |
| 2 | g.162282494T>A | CA163194 | IFIH1 | c.*775A>T (n.*775A>T) c.1178A>T (p.Asp393Val) n.788A>T c.866A>T (p.Asp289Val) c.461A>T (p.Asp154Val) | ClinVar dbSNP |
| 2 | g.162282494T>C | CA1934595 | IFIH1 | c.*775A>G (n.*775A>G) c.1178A>G (p.Asp393Gly) n.788A>G c.866A>G (p.Asp289Gly) c.461A>G (p.Asp154Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |