| 基因名 | 突变 |
|---|---|
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113775225T>G,c.89A>C,p.K30T |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113765465C>T,c.244G>A,p.E82K |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113765459G>T,c.250C>A,p.H84N |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113755592C>T,c.457G>A,p.V153I |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113755549T>C,c.500A>G,p.D167G |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113755502T>C,c.547A>G,p.K183E |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113753937G>A,c.653C>T,p.T218I |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113753910G>A,c.680C>T,p.A227V |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113753821G>A,c.769C>T,p.R257W |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113750534A>C,c.911T>G,p.V304G |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113737568G>A,c.1120C>T,p.R374W |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113729839C>T,c.1193G>A,p.R398Q |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113729787del,c.1245del,p.415fs |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113720517T>A,c.2088A>T,p.E696D |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113697796C>T,c.2369G>A,p.R790H |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113697736A>G,c.2429T>C,p.L810P |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113697179C>A,c.2461-1G>T,p.821Acceptor |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113697072G>A,c.2567C>T,p.S856F |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113697048G>A,c.2591C>T,p.A864V |
| KIAA1407(NM_020817,KIAA1407,936aa) | g.3:113684190T>C,c.2623A>G,p.T875A |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101857758G>A,c.3230G>A,p.S1077N |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101857620C>T,c.3092C>T,p.P1031L |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101849090T>C,c.2858T>C,p.M953T |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101834474C>T,c.2708C>T,p.A903V |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101834461G>T,c.2695G>T,p.A899S |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101834095G>A,c.2329G>A,p.A777T |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101833768G>A,c.2002G>A,p.G668S |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101833346T>C,c.1580T>C,p.I527T |