| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184327401G>T | CA355415284 | EIF2B5,EIF4G1 | c.3614G>T (p.Arg1205Leu) c.3548G>T (p.Arg1183Leu) c.2961G>T (n.2961G>T) c.3017G>T (p.Arg1006Leu) c.3617G>T (p.Arg1206Leu) c.3122G>T (p.Arg1041Leu) c.3635G>T (p.Arg1212Leu) c.3353G>T (p.Arg1118Leu) c.3497G>T (p.Arg1166Leu) c.3494G>T (p.Arg1165Leu) c.3356G>T (p.Arg1119Leu) c.3029G>T (p.Arg1010Leu) c.3026G>T (p.Arg1009Leu) c.3125G>T (p.Arg1042Leu) c.*3053G>T (n.*3053G>T) c.2106+182694G>T (n.2106+182694G>T) n.116G>T | dbSNP gnomAD v4 |
| 3 | g.184327401G>A | CA128909 | EIF2B5,EIF4G1 | c.3614G>A (p.Arg1205His) c.3548G>A (p.Arg1183His) c.2961G>A (n.2961G>A) c.3017G>A (p.Arg1006His) c.3617G>A (p.Arg1206His) c.3122G>A (p.Arg1041His) c.3635G>A (p.Arg1212His) c.3353G>A (p.Arg1118His) c.3497G>A (p.Arg1166His) c.3494G>A (p.Arg1165His) c.3356G>A (p.Arg1119His) c.3029G>A (p.Arg1010His) c.3026G>A (p.Arg1009His) c.3125G>A (p.Arg1042His) c.*3053G>A (n.*3053G>A) c.2106+182694G>A (n.2106+182694G>A) n.116G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327401G= | CA1425958399 | EIF2B5,EIF4G1 | c.3614G= (p.Arg1205=) c.3548G= (p.Arg1183=) c.2961G= (n.2961G=) c.3017G= (p.Arg1006=) c.3617G= (p.Arg1206=) c.3122G= (p.Arg1041=) c.3635G= (p.Arg1212=) c.3353G= (p.Arg1118=) c.3497G= (p.Arg1166=) c.3494G= (p.Arg1165=) c.3356G= (p.Arg1119=) c.3029G= (p.Arg1010=) c.3026G= (p.Arg1009=) c.3125G= (p.Arg1042=) c.*3053G= (n.*3053G=) c.2106+182694G= (n.2106+182694G=) n.116G= | dbSNP |