| 基因名 | 突变 |
|---|---|
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9863929G>A,c.1981G>A,p.G661S |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9863537G>A,c.1589G>A,p.R530H |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9863497C>T,c.1549C>T,p.R517C |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9863426G>T,c.1478G>T,p.G493V |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9863374G>C,c.1426G>C,p.G476R |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9863266G>A,c.1318G>A,p.A440T |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9862768G>A,c.820G>A,p.G274S |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9862630G>A,c.682G>A,p.D228N |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9859136G>A,c.437G>A,p.R146Q |
| SHROOM2(NM_001649,shroom family member 2,1616aa) | g.X:9859132G>A,c.433G>A,p.G145S |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132161699G>T,c.134C>A,p.P45Q |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132161522G>A,c.311C>T,p.P104L |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132161294G>A,c.539C>T,p.P180L |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132161255C>T,c.578G>A,p.G193D |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159990G>T,c.1363C>A,p.Q455K |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159978C>T,c.1375G>A,p.G459S |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159914G>A,c.1439C>T,p.P480L |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159594G>A,c.1759C>T,p.R587W |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159576C>T,c.1777G>A,p.A593T |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159168G>T,c.2000C>A,p.T667K |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132159082G>A,c.2086C>T,p.P696S |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132158956C>G,c.2212G>C,p.D738H |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132158724C>T,c.2323G>A,p.E775K |
| SHROOM1(NM_001172700,shroom family member 1,852aa) | g.5:132158636C>T,c.2411G>A,p.R804H |
| SHQ1(NM_018130,SHQ1, H/ACA ribonucleoprotein assembly factor,577aa) | g.3:72897467T>C,c.25A>G,p.S9G |
| SHQ1(NM_018130,SHQ1, H/ACA ribonucleoprotein assembly factor,577aa) | g.3:72891547A>C,c.215T>G,p.F72C |
| SHQ1(NM_018130,SHQ1, H/ACA ribonucleoprotein assembly factor,577aa) | g.3:72799946A>T,c.1223T>A,p.V408D |
| SHQ1(NM_018130,SHQ1, H/ACA ribonucleoprotein assembly factor,577aa) | g.3:72799703C>T,c.1466G>A,p.S489N |