| 基因名 | 突变 |
|---|---|
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17648208G>T,c.544G>T,p.D182Y |
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17644477C>T,c.487C>T,p.R163C |
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17644408G>A,c.418G>A,p.G140R |
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17643088G>A,c.296G>A,p.R99H |
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17641633G>A,c.218G>A,p.R73Q |
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17638144A>C,c.88A>C,p.S30R |
| FAM129C(NM_173544,family with sequence similarity 129, member C,697aa) | g.19:17638121G>A,c.65G>A,p.G22E |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130289585C>T,c.203G>A,p.R68H |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130289567T>C,c.221A>G,p.N74S |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130289499C>T,c.289G>A,p.G97R |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130286044C>T,c.503G>A,p.R168H |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130279405G>A,c.796C>T,p.R266W |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130279279T>C,c.830A>G,p.H277R |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130279268C>T,c.841G>A,p.E281K |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130279255G>A,c.854C>T,p.A285V |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130271355T>C,c.1217A>G,p.Y406C |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130269357C>T,c.2008G>A,p.G670S |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130269226C>G,c.2139G>C,p.K713N |
| FAM129B(NM_022833,family with sequence similarity 129, member B,746aa) | g.9:130269174C>T,c.2191G>A,p.A731T |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184863330G>A,c.197C>T,p.A66V |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184853890T>C,c.478A>G,p.K160E |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184792782G>A,c.812C>T,p.T271M |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184792432T>A,c.854A>T,p.H285L |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184777288G>A,c.1255C>T,p.R419C |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184777287C>T,c.1256G>A,p.R419H |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184765169T>C,c.1729A>G,p.S577G |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184765072A>G,c.1826T>C,p.L609P |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184765000G>A,c.1898C>T,p.S633L |