| Genename | Variants |
|---|---|
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183862404A>G,c.2015A>G,p.Q672R |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183861932G>A,c.1915G>A,p.A639T |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183861930G>A,c.1913G>A,p.R638H |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183861293del,c.1809del,p.603fs |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183861243A>G,c.1759A>G,p.I587V |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183860642G>A,c.1622G>A,p.R541Q |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183858378G>A,c.1016G>A,p.R339Q |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183855847G>A,c.668G>A,p.R223H |
| EIF2B5(NM_003907,eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,721aa) | g.3:183855724C>T,c.545C>T,p.T182M |
| EIF2B4(NM_001034116,eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa,523aa) | g.2:27591591C>T,c.428G>A,p.R143H |
| EIF2B4(NM_001034116,eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa,523aa) | g.2:27591263T>C,c.566A>G,p.Q189R |
| EIF2B4(NM_001034116,eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa,523aa) | g.2:27590971C>T,c.626G>A,p.R209Q |
| EIF2B4(NM_001034116,eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa,523aa) | g.2:27590397G>A,c.812C>T,p.A271V |
| EIF2B4(NM_001034116,eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa,523aa) | g.2:27590038G>C,c.916C>G,p.R306G |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45446819T>A,c.22A>T,p.M8L |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45446711C>T,c.130G>A,p.E44K |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45446707C>T,c.134G>A,p.R45H |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45407190T>C,c.442A>G,p.K148E |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45345601G>C,c.864C>G,p.D288E |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45341318G>A,c.1025C>T,p.S342L |
| EIF2B3(NM_020365,eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,452aa) | g.1:45340438G>A,c.1114C>T,p.R372C |
| EIF2B2(NM_014239,eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa,351aa) | g.14:75475817A>G,c.982A>G,p.I328V |
| EIF2B2(NM_014239,eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa,351aa) | g.14:75473404A>G,c.818A>G,p.K273R |
| EIF2B2(NM_014239,eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa,351aa) | g.14:75472570G>T,c.599G>T,p.G200V |
| EIF2B2(NM_014239,eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa,351aa) | g.14:75470349C>T,c.380C>T,p.A127V |
| EIF2B1(NM_001414,eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa,305aa) | g.12:124115020A>G,c.176T>C,p.V59A |
| EIF2A(NM_032025,eukaryotic translation initiation factor 2A, 65kDa,585aa) | g.3:150290062T>C,c.1129T>C,p.C377R |
| EIF2A(NM_032025,eukaryotic translation initiation factor 2A, 65kDa,585aa) | g.3:150289997C>T,c.1064C>T,p.P355L |