| 基因名 | 突变 |
|---|---|
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187088147G>A,c.1190G>A,p.R397H |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187086608G>A,c.1154G>A,p.R385H |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187086562C>A,c.1108C>A,p.L370I |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187086544C>T,c.1090C>T,p.R364W |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187084634C>T,c.890C>T,p.P297L |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187084099C>T,c.830C>T,p.T277M |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187078866C>T,c.722C>T,p.P241L |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187078796G>A,c.652G>A,p.D218N |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187078785A>G,c.641A>G,p.H214R |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187078745A>G,c.601A>G,p.K201E |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187077206A>G,c.436A>G,p.K146E |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187077177A>G,c.407A>G,p.K136R |
| FAM149A(NM_015398,family with sequence similarity 149, member A,482aa) | g.4:187074833A>G,c.121A>G,p.K41E |
| FAM13C(NM_001143773,family with sequence similarity 13, member C,502aa) | g.10:61043173G>A,c.293C>T,p.P98L |
| FAM13C(NM_001143773,family with sequence similarity 13, member C,502aa) | g.10:61028449G>A,c.557C>T,p.P186L |
| FAM13C(NM_001143773,family with sequence similarity 13, member C,502aa) | g.10:61028447G>A,c.559C>T,p.R187W |
| FAM13C(NM_001143773,family with sequence similarity 13, member C,502aa) | g.10:61022303G>A,c.878C>T,p.P293L |
| FAM13C(NM_001143773,family with sequence similarity 13, member C,502aa) | g.10:61012688G>A,c.1154C>T,p.S385F |
| FAM13C(NM_001143773,family with sequence similarity 13, member C,502aa) | g.10:61007460C>T,c.1423G>A,p.E475K |
| FAM13B(NM_016603,family with sequence similarity 13, member B,915aa) | g.5:137354051C>T,c.310G>A,p.E104K |
| FAM13B(NM_016603,family with sequence similarity 13, member B,915aa) | g.5:137323997T>C,c.856A>G,p.I286V |
| FAM13B(NM_016603,family with sequence similarity 13, member B,915aa) | g.5:137321064T>A,c.1061A>T,p.D354V |
| FAM13B(NM_016603,family with sequence similarity 13, member B,915aa) | g.5:137284675C>T,c.2063G>A,p.R688H |
| FAM13B(NM_016603,family with sequence similarity 13, member B,915aa) | g.5:137278682T>C,c.2404A>G,p.M802V |
| FAM13B(NM_016603,family with sequence similarity 13, member B,915aa) | g.5:137277675G>A,c.2582C>T,p.T861M |
| FAM13A(NM_014883,family with sequence similarity 13, member A,1023aa) | g.4:89950782G>A,c.46C>T,p.R16W |
| FAM13A(NM_014883,family with sequence similarity 13, member A,1023aa) | g.4:89941734C>T,c.304G>A,p.V102M |
| FAM13A(NM_014883,family with sequence similarity 13, member A,1023aa) | g.4:89912303T>C,c.428-2A>G,p.143Acceptor |