| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162277580C>G | CA1934361 | IFIH1 | c.*1476G>C (n.*1476G>C) c.1762G>C (p.Glu588Gln) n.1489G>C c.1879G>C (p.Glu627Gln) c.1567G>C (p.Glu523Gln) c.1162G>C (p.Glu388Gln) c.*53G>C (n.*53G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.162277580C>A | CA1934360 | IFIH1 | c.*1476G>T (n.*1476G>T) c.1762G>T (p.Glu588Ter) n.1489G>T c.1879G>T (p.Glu627Ter) c.1567G>T (p.Glu523Ter) c.1162G>T (p.Glu388Ter) c.*53G>T (n.*53G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162277580C>T | CA1934362 | IFIH1 | c.*1476G>A (n.*1476G>A) c.1762G>A (p.Glu588Lys) n.1489G>A c.1879G>A (p.Glu627Lys) c.1567G>A (p.Glu523Lys) c.1162G>A (p.Glu388Lys) c.*53G>A (n.*53G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |