| 基因名 | 突变 |
|---|---|
| NPC2(NM_006432,Niemann-Pick disease, type C2,151aa) | g.14:74951269T>C,c.212A>G,p.K71R |
| NPC2(NM_006432,Niemann-Pick disease, type C2,151aa) | g.14:74951123G>A,c.358C>T,p.P120S |
| NPC2(NM_006432,Niemann-Pick disease, type C2,151aa) | g.14:74947404C>T,c.441+1G>A,p.147Donor |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21141414C>T,c.541G>A,p.A181T |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21140432T>C,c.644A>G,p.H215R |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21140411T>C,c.665A>G,p.N222S |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21140367G>A,c.709C>T,p.P237S |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21136571G>A,c.962C>T,p.A321V |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21136494C>T,c.1039G>A,p.V347I |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21136301C>T,c.1232G>A,p.R411Q |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21134726C>T,c.1549G>A,p.V517I |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21125001C>T,c.1870G>A,p.V624I |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21121284T>C,c.2359A>G,p.I787V |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21120444T>C,c.2572A>G,p.I858V |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21119839C>T,c.2731G>A,p.G911S |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21114466T>C,c.3535A>G,p.M1179V |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21114445G>A,c.3556C>T,p.R1186C |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21114441G>A,c.3560C>T,p.A1187V |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21112206C>T,c.3797G>A,p.R1266Q |
| NPC1(NM_000271,Niemann-Pick disease, type C1,1278aa) | g.18:21112189G>A,c.3814C>T,p.R1272C |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579797T>A,c.199A>T,p.T67S |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579574C>T,c.422G>A,p.R141H |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579475C>T,c.521G>A,p.R174H |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579467C>T,c.529G>A,p.V177I |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579335G>A,c.661C>T,p.H221Y |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579185C>A,c.811G>T,p.A271S |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579184G>A,c.812C>T,p.A271V |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579180G>C,c.816C>G,p.L272L |