| 基因名 | 突变 |
|---|---|
| NXPH4(NM_007224,neurexophilin 4,308aa) | g.12:57619111G>C,c.508G>C,p.G170R |
| NXPH4(NM_007224,neurexophilin 4,308aa) | g.12:57618955C>G,c.352C>G,p.L118V |
| NXPH4(NM_007224,neurexophilin 4,308aa) | g.12:57618853G>A,c.250G>A,p.G84R |
| NXPH3(NM_007225,neurexophilin 3,252aa) | g.17:47656297G>A,c.394G>A,p.V132I |
| NXPH3(NM_007225,neurexophilin 3,252aa) | g.17:47656159C>T,c.256C>T,p.P86S |
| NXPH3(NM_007225,neurexophilin 3,252aa) | g.17:47656030C>G,c.127C>G,p.R43G |
| NXPH3(NM_007225,neurexophilin 3,252aa) | g.17:47656000C>T,c.97C>T,p.P33S |
| NXPH3(NM_007225,neurexophilin 3,252aa) | g.17:47655988G>A,c.85G>A,p.G29S |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114453437C>T,c.403G>A,p.G135R |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114453389C>A,c.451G>T,p.A151S |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114451010T>C,c.943A>G,p.I315V |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114442141A>G,c.1154T>C,p.V385A |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114442103A>G,c.1192T>C,p.Y398H |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114442082A>G,c.1213T>C,p.S405P |
| NXPE4(NM_001077639,neurexophilin and PC-esterase domain family, member 4,544aa) | g.11:114441943G>A,c.1352C>T,p.A451V |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101540716C>T,c.1598C>T,p.P533L |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101540638C>T,c.1520C>T,p.T507I |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101540566C>T,c.1448C>T,p.T483M |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101540563G>A,c.1445G>A,p.R482Q |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101540387T>G,c.1269T>G,p.H423Q |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101540355C>T,c.1237C>T,p.R413C |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101535672G>C,c.956G>C,p.G319A |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101520777C>G,c.792C>G,p.F264L |
| NXPE3(NM_001134456,neurexophilin and PC-esterase domain family, member 3,559aa) | g.3:101504517A>G,c.77A>G,p.N26S |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114577567C>T,c.1595C>T,p.T532M |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114577559G>A,c.1587G>A,p.W529X |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114577517A>T,c.1545A>T,p.R515S |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114577408G>A,c.1436G>A,p.R479Q |