| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184328682C>T | CA2732988 | EIF2B5,EIF4G1 | c.4005C>T (p.His1335=) c.3939C>T (p.His1313=) c.3352C>T (n.3352C>T) c.3408C>T (p.His1136=) c.4008C>T (p.His1336=) c.3513C>T (p.His1171=) c.4026C>T (p.His1342=) c.3744C>T (p.His1248=) c.3888C>T (p.His1296=) c.3885C>T (p.His1295=) c.106C>T c.3747C>T (p.His1249=) c.3420C>T (p.His1140=) c.3417C>T (p.His1139=) c.3516C>T (p.His1172=) c.*3444C>T (n.*3444C>T) c.2106+183975C>T (n.2106+183975C>T) n.566C>T n.14C>T n.67C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184328682C>G | CA355419346 | EIF2B5,EIF4G1 | c.4005C>G (p.His1335Gln) c.3939C>G (p.His1313Gln) c.3352C>G (n.3352C>G) c.3408C>G (p.His1136Gln) c.4008C>G (p.His1336Gln) c.3513C>G (p.His1171Gln) c.4026C>G (p.His1342Gln) c.3744C>G (p.His1248Gln) c.3888C>G (p.His1296Gln) c.3885C>G (p.His1295Gln) c.106C>G c.3747C>G (p.His1249Gln) c.3420C>G (p.His1140Gln) c.3417C>G (p.His1139Gln) c.3516C>G (p.His1172Gln) c.*3444C>G (n.*3444C>G) c.2106+183975C>G (n.2106+183975C>G) n.566C>G n.14C>G n.67C>G | dbSNP |