| 基因名 | 突变 |
|---|---|
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579151G>A,c.845C>T,p.P282L |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44579080G>A,c.916C>T,p.R306C |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578911G>A,c.1085C>T,p.P362L |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578893G>A,c.1103C>T,p.A368V |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578845G>A,c.1151C>T,p.S384L |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578836T>C,c.1160A>G,p.N387S |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578747G>A,c.1249C>T,p.R417W |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578696C>T,c.1300G>A,p.G434R |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578579C>T,c.1417G>A,p.A473T |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578500G>A,c.1496C>T,p.T499M |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44578447C>T,c.1549G>A,p.D517N |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44575991G>A,c.1718C>T,p.T573M |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44574135G>A,c.2077C>T,p.R693C |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44571741G>A,c.2485C>T,p.L829F |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44571388C>T,c.2603G>A,p.S868N |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44561314C>T,c.2950G>A,p.V984I |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44556894G>A,c.3280C>T,p.R1094W |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44556509C>G,c.3393G>C,p.Q1131H |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44556415G>A,c.3487C>T,p.R1163C |
| NPC1L1(NM_013389,NPC1-like 1,1359aa) | g.7:44555699A>T,c.3698T>A,p.I1233N |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62738060G>A,c.125C>T,p.P42L |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737967G>A,c.218C>T,p.A73V |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737952G>A,c.233C>T,p.T78M |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737920C>T,c.265G>A,p.V89I |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737914C>T,c.271G>A,p.D91N |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737727C>T,c.458G>A,p.R153H |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737568T>C,c.617A>G,p.Q206R |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737521C>T,c.664G>A,p.V222M |