| 基因名 | 突变 |
|---|---|
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224756C>T,c.3122G>A,p.R1041H |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224736T>G,c.3142A>C,p.M1048L |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224589C>T,c.3202G>A,p.V1068M |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224519T>A,c.3272A>T,p.E1091V |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224433C>T,c.3358G>A,p.G1120R |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224157C>T,c.3446G>A,p.R1149H |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7224119C>T,c.3484G>A,p.V1162I |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7222389C>T,c.3664G>A,p.V1222I |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7222374G>A,c.3679C>T,p.L1227F |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7221197C>T,c.4115G>A,p.R1372Q |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7220881C>T,c.4217G>A,p.R1406H |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7220846T>C,c.4252A>G,p.M1418V |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7219624G>A,c.4507C>T,p.R1503W |
| NEURL4(NM_032442,neuralized homolog 4 (Drosophila),1562aa) | g.17:7219552C>T,c.4579G>A,p.A1527T |
| NEURL2(NM_001278535,neuralized homolog 2 (Drosophila),261aa) | g.20:44519224_44519225insT,c.406_407insA,p.136fs |
| NEURL2(NM_001278535,neuralized homolog 2 (Drosophila),261aa) | g.20:44519042G>A,c.589C>T,p.R197C |
| NEURL1B(NM_001142651,neuralized homolog 1B (Drosophila),555aa) | g.5:172110833C>T,c.989C>T,p.P330L |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242758292G>A,c.1373G>A,p.R458H |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242758210G>A,c.1291G>A,p.G431R |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242758187C>T,c.1268C>T,p.A423V |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242758127C>T,c.1208C>T,p.P403L |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242758103G>A,c.1184G>A,p.R395H |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757937C>G,c.1018C>G,p.R340G |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757847G>A,c.928G>A,p.G310S |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757826C>A,c.907C>A,p.P303T |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757820G>A,c.901G>A,p.G301R |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757778G>A,c.859G>A,p.A287T |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757643C>T,c.724C>T,p.R242W |