| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162272377C>T | CA199234 | IFIH1 | c.*2062G>A (n.*2062G>A) c.2348G>A (p.Arg783Gln) n.2075G>A c.2465G>A (p.Arg822Gln) c.2153G>A (p.Arg718Gln) c.1748G>A (p.Arg583Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.162272377C>G | CA348994565 | IFIH1 | c.*2062G>C (n.*2062G>C) c.2348G>C (p.Arg783Pro) n.2075G>C c.2465G>C (p.Arg822Pro) c.2153G>C (p.Arg718Pro) c.1748G>C (p.Arg583Pro) | ClinVar dbSNP gnomAD v4 |
| 2 | g.162272377C= | CA1303145016 | IFIH1 | c.*2062G= (n.*2062G=) c.2348G= (p.Arg783=) n.2075G= c.2465G= (p.Arg822=) c.2153G= (p.Arg718=) c.1748G= (p.Arg583=) | dbSNP |