| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27368104C>T | CA1576829 | EIF2B4 | c.626G>A (p.Arg209Gln) c.600G>A (p.Ala200=) c.202G>A c.623G>A (p.Arg208Gln) c.686G>A (p.Arg229Gln) n.1747G>A c.689G>A (p.Arg230Gln) c.617G>A (p.Arg206Gln) c.581G>A (p.Arg194Gln) c.578G>A (p.Arg193Gln) c.8G>A (p.Arg3Gln) c.533G>A (p.Arg178Gln) c.41G>A (p.Arg14Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27368104C>A | CA346200406 | EIF2B4 | c.626G>T (p.Arg209Leu) c.600G>T (p.Ala200=) c.202G>T c.623G>T (p.Arg208Leu) c.686G>T (p.Arg229Leu) n.1747G>T c.689G>T (p.Arg230Leu) c.617G>T (p.Arg206Leu) c.581G>T (p.Arg194Leu) c.578G>T (p.Arg193Leu) c.8G>T (p.Arg3Leu) c.533G>T (p.Arg178Leu) c.41G>T (p.Arg14Leu) | dbSNP gnomAD v4 |
| 2 | g.27368104C= | CA1240246171 | EIF2B4 | c.626G= (p.Arg209=) c.600G= (p.Ala200=) c.202G= c.623G= (p.Arg208=) c.686G= (p.Arg229=) n.1747G= c.689G= (p.Arg230=) c.617G= (p.Arg206=) c.581G= (p.Arg194=) c.578G= (p.Arg193=) c.8G= (p.Arg3=) c.533G= (p.Arg178=) c.41G= (p.Arg14=) | dbSNP |