| 基因名 | 突变 |
|---|---|
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46164793C>T,c.677G>A,p.R226H |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46154749A>G,c.908T>C,p.L303P |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46142538T>C,c.1099A>G,p.M367V |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46137889T>C,c.1222A>G,p.I408V |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46135631G>A,c.1280C>T,p.T427I |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46135553T>C,c.1358A>G,p.H453R |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46135535C>T,c.1376G>A,p.R459Q |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46124375C>G,c.1484G>C,p.G495A |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46124056T>C,c.1618A>G,p.T540A |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46115731C>A,c.1957G>T,p.V653F |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46115707G>A,c.1981C>T,p.L661F |
| FAM194B(NM_182542,family with sequence similarity 194, member B,696aa) | g.13:46115659C>T,c.2029G>A,p.V677I |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150421666G>A,c.20C>T,p.P7L |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150421660C>A,c.26G>T,p.G9V |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150421540T>A,c.146A>T,p.E49V |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150421354A>T,c.332T>A,p.V111E |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150419920A>T,c.449T>A,p.M150K |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150419912C>T,c.457G>A,p.D153N |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150416659G>A,c.472C>T,p.R158C |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150416658C>T,c.473G>A,p.R158H |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150404142C>T,c.554-1G>A,p.185Acceptor |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150403630T>C,c.682A>G,p.I228V |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150398311C>A,c.1055G>T,p.R352L |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150391810A>C,c.1276T>G,p.L426V |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150387209C>T,c.1373G>A,p.R458Q |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150387199G>C,c.1383C>G,p.N461K |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150384801C>A,c.1501G>T,p.V501L |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150384671C>T,c.1631G>A,p.R544H |