| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27368105G>A | CA44512958 | EIF2B4 | c.625C>T (p.Arg209Ter) c.599C>T (p.Ala200Val) c.201C>T c.622C>T (p.Arg208Ter) c.685C>T (p.Arg229Ter) n.1746C>T c.688C>T (p.Arg230Ter) c.616C>T (p.Arg206Ter) c.580C>T (p.Arg194Ter) c.577C>T (p.Arg193Ter) c.7C>T (p.Arg3Ter) c.532C>T (p.Arg178Ter) c.40C>T (p.Arg14Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27368105G= | CA1240246174 | EIF2B4 | c.625C= (p.Arg209=) c.599C= (p.Ala200=) c.201C= c.622C= (p.Arg208=) c.685C= (p.Arg229=) n.1746C= c.688C= (p.Arg230=) c.616C= (p.Arg206=) c.580C= (p.Arg194=) c.577C= (p.Arg193=) c.7C= (p.Arg3=) c.532C= (p.Arg178=) c.40C= (p.Arg14=) | dbSNP |