| 基因名 | 突变 |
|---|---|
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55870260G>A,c.1976C>T,p.P659L |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55870188G>A,c.2048C>T,p.P683L |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55870150G>A,c.2086C>T,p.L696F |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55870104G>C,c.2132C>G,p.P711R |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55870069G>A,c.2167C>T,p.L723F |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869916C>T,c.2320G>A,p.E774K |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869903T>C,c.2333A>G,p.Q778R |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869892C>T,c.2344G>A,p.E782K |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869880_55869903del,c.2333_2356del,p.778_786del |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869685T>A,c.2551A>T,p.K851X |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869624G>A,c.2612C>T,p.S871L |
| FAM71E2(NM_001145402,family with sequence similarity 71, member E2,922aa) | g.19:55869601T>C,c.2635A>G,p.M879V |
| FAM71E1(NM_138411,family with sequence similarity 71, member E1,231aa) | g.19:50979534C>T,c.112G>A,p.V38I |
| FAM71E1(NM_138411,family with sequence similarity 71, member E1,231aa) | g.19:50979092G>A,c.358C>T,p.Q120X |
| FAM71D(NM_173526,family with sequence similarity 71, member D,422aa) | g.14:67671736T>C,c.842T>C,p.I281T |
| FAM71D(NM_173526,family with sequence similarity 71, member D,422aa) | g.14:67664881_67664883del,c.3_5del,p.1_2del |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042364C>G,c.412C>G,p.L138V |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042281C>T,c.329C>T,p.P110L |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042172G>A,c.220G>A,p.V74I |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042163A>G,c.211A>G,p.M71V |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042152G>A,c.200G>A,p.R67Q |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042136G>A,c.184G>A,p.V62M |
| FAM71C(NM_153364,family with sequence similarity 71, member C,241aa) | g.12:100042040C>G,c.88C>G,p.R30G |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156593121G>A,c.59C>T,p.A20V |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156592699G>A,c.481C>T,p.R161W |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156590389A>G,c.887T>C,p.M296T |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156590155G>A,c.1121C>T,p.A374V |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156589937G>A,c.1339C>T,p.R447C |