| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184322089C>T | CA128911 | EIF2B5,EIF4G1 | c.1505C>T (p.Ala502Val) c.1439C>T (p.Ala480Val) c.875C>T (p.Ala292Val) c.917C>T (p.Ala306Val) c.1013C>T (p.Ala338Val) c.1526C>T (p.Ala509Val) c.1244C>T (p.Ala415Val) c.1385C>T (p.Ala462Val) c.*1012C>T (n.*1012C>T) c.1328C>T (p.Ala443Val) c.*944C>T (n.*944C>T) c.2106+177382C>T (n.2106+177382C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184322089C= | CA1425953206 | EIF2B5,EIF4G1 | c.1505C= (p.Ala502=) c.1439C= (p.Ala480=) c.875C= (p.Ala292=) c.917C= (p.Ala306=) c.1013C= (p.Ala338=) c.1526C= (p.Ala509=) c.1244C= (p.Ala415=) c.1385C= (p.Ala462=) c.*1012C= (n.*1012C=) c.1328C= (p.Ala443=) c.*944C= (n.*944C=) c.2106+177382C= (n.2106+177382C=) | dbSNP |