| 基因名 | 突变 |
|---|---|
| NEUROD4(NM_021191,neuronal differentiation 4,331aa) | g.12:55420891A>G,c.668A>G,p.H223R |
| NEUROD4(NM_021191,neuronal differentiation 4,331aa) | g.12:55420843C>T,c.620C>T,p.P207L |
| NEUROD4(NM_021191,neuronal differentiation 4,331aa) | g.12:55420621G>A,c.398G>A,p.R133K |
| NEUROD4(NM_021191,neuronal differentiation 4,331aa) | g.12:55420426A>C,c.203A>C,p.K68T |
| NEUROD4(NM_021191,neuronal differentiation 4,331aa) | g.12:55420225T>C,c.2T>C,p.M1T |
| NEUROD1(NM_002500,neuronal differentiation 1,356aa) | g.2:182543455T>C,c.133A>G,p.T45A |
| NEUROD1(NM_002500,neuronal differentiation 1,356aa) | g.2:182542998G>T,c.590C>A,p.P197H |
| NEUROD1(NM_002500,neuronal differentiation 1,356aa) | g.2:182542943_182542944insG,c.644_645insC,p.215fs |
| NEUROD1(NM_002500,neuronal differentiation 1,356aa) | g.2:182542837C>A,c.751G>T,p.A251S |
| NEUROD1(NM_002500,neuronal differentiation 1,356aa) | g.2:182542615G>T,c.973C>A,p.R325S |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105349357C>T,c.1426C>T,p.R476C |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105344451G>A,c.808G>A,p.G270S |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105331435G>T,c.505G>T,p.A169S |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105331363G>A,c.433G>A,p.D145N |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105330835C>T,c.292C>T,p.R98C |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105330725C>T,c.182C>T,p.T61M |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105330692C>T,c.149C>T,p.P50L |
| NEURL(NM_004210,neuralized homolog (Drosophila),574aa) | g.10:105254228A>C,c.84A>C,p.K28N |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7231203C>T,c.283G>A,p.V95I |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7231068G>A,c.418C>T,p.R140C |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7230845G>T,c.641C>A,p.P214H |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7230049C>T,c.1073G>A,p.R358Q |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7227259G>A,c.2135C>T,p.A712V |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7226276G>C,c.2584C>G,p.P862A |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7225263G>A,c.2792C>T,p.T931M |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7225034C>T,c.2944G>A,p.E982K |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224921C>G,c.3057G>C,p.Q1019H |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224768C>T,c.3110G>A,p.R1037H |