| 基因名 | 突变 |
|---|---|
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114577395C>T,c.1423C>T,p.R475C |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114576683A>G,c.1109A>G,p.H370R |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114576626A>T,c.1052A>T,p.N351I |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114569445A>G,c.811A>G,p.T271A |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114569373G>T,c.739G>T,p.D247Y |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114568987A>G,c.353A>G,p.N118S |
| NXPE2(NM_182495,neurexophilin and PC-esterase domain family, member 2,559aa) | g.11:114568942T>C,c.308T>C,p.V103A |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114401278C>T,c.26G>A,p.G9D |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114401161G>A,c.143C>T,p.S48L |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114400991G>C,c.313C>G,p.P105A |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114398591C>T,c.440G>A,p.R147H |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114393652C>T,c.631G>A,p.G211R |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114393636C>T,c.647G>A,p.R216H |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114393118C>T,c.790G>A,p.V264I |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114393099G>A,c.809C>T,p.S270F |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114393066A>G,c.842T>C,p.I281T |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114393060C>T,c.848G>A,p.R283Q |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114392793A>G,c.1115T>C,p.I372T |
| NXPE1(NM_152315,neurexophilin and PC-esterase domain family, member 1,405aa) | g.11:114392694C>A,c.1214G>T,p.C405F |
| NXN(NM_022463,nucleoredoxin,435aa) | g.17:722765T>A,c.734A>T,p.Q245L |
| NXN(NM_022463,nucleoredoxin,435aa) | g.17:722697G>A,c.802C>T,p.R268W |
| NXN(NM_022463,nucleoredoxin,435aa) | g.17:708346G>A,c.962C>T,p.A321V |
| NXN(NM_022463,nucleoredoxin,435aa) | g.17:706933C>T,c.1114G>A,p.V372I |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17571633C>T,c.46G>A,p.D16N |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17571596C>T,c.83G>A,p.R28H |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17571586C>G,c.93G>C,p.E31D |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17571489C>T,c.190G>A,p.E64K |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17571431G>A,c.248C>T,p.T83M |