| 基因名 | 突变 |
|---|---|
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59502096G>A,c.2126C>T,p.T709M |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59498553C>T,c.2453G>A,p.R818H |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59498295C>T,c.2575G>A,p.V859I |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59498262C>T,c.2608G>A,p.V870I |
| NSL1(NM_001042549,NSL1, MIS12 kinetochore complex component,213aa) | g.1:212965095G>A,c.11C>T,p.S4F |
| NSL1(NM_001042549,NSL1, MIS12 kinetochore complex component,213aa) | g.1:212964933T>C,c.173A>G,p.Q58R |
| NSL1(NM_001042549,NSL1, MIS12 kinetochore complex component,213aa) | g.1:212957827T>C,c.322A>G,p.I108V |
| NSL1(NM_001042549,NSL1, MIS12 kinetochore complex component,213aa) | g.1:212957772C>T,c.377G>A,p.R126H |
| NSL1(NM_001042549,NSL1, MIS12 kinetochore complex component,213aa) | g.1:212912926A>G,c.602T>C,p.F201S |
| NSFL1C(NM_001206736,NSFL1 (p97) cofactor (p47),372aa) | g.20:1433682C>T,c.647G>A,p.R216H |
| NSFL1C(NM_001206736,NSFL1 (p97) cofactor (p47),372aa) | g.20:1426449C>G,c.818G>C,p.S273T |
| NSFL1C(NM_001206736,NSFL1 (p97) cofactor (p47),372aa) | g.20:1426393C>T,c.874G>A,p.D292N |
| NSFL1C(NM_001206736,NSFL1 (p97) cofactor (p47),372aa) | g.20:1424531C>T,c.982G>A,p.V328M |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152037647G>A,c.1109G>A,p.R370Q |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152037646C>T,c.1108C>T,p.R370W |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152037625G>A,c.1087G>A,p.V363M |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152037379C>T,c.841C>T,p.R281C |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152027402G>A,c.356G>A,p.R119K |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152018813A>G,c.113A>G,p.K38R |
| NSDHL(NM_001129765,NAD(P) dependent steroid dehydrogenase-like,373aa) | g.X:152014893A>G,c.25A>G,p.M9V |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176722221G>A,c.7852G>A,p.V2618I |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176722005G>A,c.7636G>A,p.A2546T |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176721790A>C,c.7421A>C,p.Q2474P |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176721514C>T,c.7145C>T,p.T2382I |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176721151T>C,c.6782T>C,p.M2261T |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176721119G>A,c.6750G>A,p.M2250I |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176675248G>A,c.4564G>A,p.D1522N |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176638731G>A,c.3331G>A,p.D1111N |