| 基因名 | 突变 |
|---|---|
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12021103C>T,c.1906G>A,p.V636I |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:11998361G>T,c.2532C>A,p.H844Q |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:11978602G>A,c.3488C>T,p.A1163V |
| UPF1(NM_002911,UPF1 regulator of nonsense transcripts homolog (yeast),1118aa) | g.19:18976484C>T,c.3134C>T,p.A1045V |
| UPF1(NM_002911,UPF1 regulator of nonsense transcripts homolog (yeast),1118aa) | g.19:18976154G>A,c.2914G>A,p.G972S |
| UPF1(NM_002911,UPF1 regulator of nonsense transcripts homolog (yeast),1118aa) | g.19:18966027A>G,c.1520A>G,p.Y507C |
| UPF1(NM_002911,UPF1 regulator of nonsense transcripts homolog (yeast),1118aa) | g.19:18943080C>T,c.62C>T,p.A21V |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24921718G>A,c.1111G>A,p.E371K |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24919647G>A,c.977G>A,p.R326Q |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24919611A>G,c.941A>G,p.Y314C |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24919586G>A,c.917-1G>A,p.306Acceptor |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24916355C>A,c.792C>A,p.S264R |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24909346G>A,c.514G>A,p.E172K |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24896112T>C,c.142T>C,p.S48P |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24896073A>G,c.105-2A>G,p.35Acceptor |
| UPB1(NM_016327,ureidopropionase, beta,384aa) | g.22:24891462G>A,c.91G>A,p.G31S |
| UNK(NM_001080419,unkempt homolog (Drosophila),810aa) | g.17:73820422C>T,c.2357C>T,p.A786V |
| UNK(NM_001080419,unkempt homolog (Drosophila),810aa) | g.17:73820346G>A,c.2281G>A,p.V761M |
| UNK(NM_001080419,unkempt homolog (Drosophila),810aa) | g.17:73816093G>A,c.1741G>A,p.V581I |
| UNK(NM_001080419,unkempt homolog (Drosophila),810aa) | g.17:73815807C>T,c.1589C>T,p.A530V |
| UNK(NM_001080419,unkempt homolog (Drosophila),810aa) | g.17:73809906G>A,c.823G>A,p.G275R |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1449417T>C,c.692A>G,p.N231S |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1449390C>T,c.719G>A,p.R240Q |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1442911C>T,c.1004G>A,p.G335D |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1435317G>C,c.1156C>G,p.L386V |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1435293T>C,c.1180A>G,p.S394G |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1420341C>T,c.1375G>A,p.G459S |
| UNKL(NM_001193388,unkempt homolog (Drosophila)-like,683aa) | g.16:1420181C>T,c.1535G>A,p.R512H |