| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184321878A>G | CA2732142 | EIF2B5,EIF4G1 | c.1294A>G (p.Met432Val) c.1228A>G (p.Met410Val) c.664A>G (p.Met222Val) c.706A>G (p.Met236Val) c.802A>G (p.Met268Val) c.1315A>G (p.Met439Val) c.1033A>G (p.Met345Val) c.1174A>G (p.Met392Val) c.*801A>G (n.*801A>G) c.1117A>G (p.Met373Val) c.*733A>G (n.*733A>G) c.2106+177171A>G (n.2106+177171A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184321878A>C | CA355389007 | EIF2B5,EIF4G1 | c.1294A>C (p.Met432Leu) c.1228A>C (p.Met410Leu) c.664A>C (p.Met222Leu) c.706A>C (p.Met236Leu) c.802A>C (p.Met268Leu) c.1315A>C (p.Met439Leu) c.1033A>C (p.Met345Leu) c.1174A>C (p.Met392Leu) c.*801A>C (n.*801A>C) c.1117A>C (p.Met373Leu) c.*733A>C (n.*733A>C) c.2106+177171A>C (n.2106+177171A>C) | dbSNP |
| 3 | g.184321878A= | CA1425952838 | EIF2B5,EIF4G1 | c.1294A= (p.Met432=) c.1228A= (p.Met410=) c.664A= (p.Met222=) c.706A= (p.Met236=) c.802A= (p.Met268=) c.1315A= (p.Met439=) c.1033A= (p.Met345=) c.1174A= (p.Met392=) c.*801A= (n.*801A=) c.1117A= (p.Met373=) c.*733A= (n.*733A=) c.2106+177171A= (n.2106+177171A=) | dbSNP |