| 基因名 | 突变 |
|---|---|
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48037975C>A,c.1019C>A,p.T340N |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48037943G>A,c.987G>A,p.W329X |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48037926A>G,c.970A>G,p.I324V |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48027327G>A,c.289G>A,p.A97T |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48027131T>G,c.93T>G,p.C31W |
| NIPA2(NM_001184889,non imprinted in Prader-Willi/Angelman syndrome 2,360aa) | g.15:23021239del,c.98del,p.33fs |
| NIPA2(NM_001184889,non imprinted in Prader-Willi/Angelman syndrome 2,360aa) | g.15:23021236del,c.101del,p.34fs |
| NIPA2(NM_001184889,non imprinted in Prader-Willi/Angelman syndrome 2,360aa) | g.15:23014502C>T,c.223G>A,p.A75T |
| NIPA2(NM_001184889,non imprinted in Prader-Willi/Angelman syndrome 2,360aa) | g.15:23006219_23006222del,c.1082_1083del,p.361fs |
| NIPA1(NM_144599,non imprinted in Prader-Willi/Angelman syndrome 1,329aa) | g.15:23052673C>T,c.400G>A,p.V134I |
| NIPA1(NM_144599,non imprinted in Prader-Willi/Angelman syndrome 1,329aa) | g.15:23052625C>A,c.448G>T,p.A150S |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51245506C>T,c.452G>A,p.R151H |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51243722C>T,c.611G>A,p.R204Q |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51237254C>T,c.1286G>A,p.R429Q |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51228624C>T,c.1780G>A,p.G594S |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51226634C>G,c.2340G>C,p.E780D |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51225139G>A,c.2609C>T,p.A870V |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51225097T>C,c.2651A>G,p.K884R |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224890T>A,c.2858A>T,p.E953V |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224761G>A,c.2987C>T,p.A996V |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224729C>T,c.3019G>A,p.E1007K |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224551A>T,c.3197T>A,p.V1066D |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224417G>C,c.3331C>G,p.P1111A |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224374T>G,c.3374A>C,p.Q1125P |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224345C>T,c.3403G>A,p.V1135I |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51224050del,c.3698del,p.1233fs |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51223789C>T,c.3959G>A,p.G1320E |
| NIN(NM_020921,ninein (GSK3B interacting protein),2133aa) | g.14:51223539del,c.4209del,p.1403fs |