| 基因名 | 突变 |
|---|---|
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517763C>T,c.709C>T,p.R237X |
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517755C>T,c.701C>T,p.T234I |
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517691C>T,c.637C>T,p.R213C |
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517562G>A,c.508G>A,p.V170M |
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517528_20517532del,c.474_478del,p.158fs |
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517508G>A,c.454G>A,p.E152K |
| UBXN10(NM_152376,UBX domain protein 10,280aa) | g.1:20517116C>G,c.62C>G,p.A21G |
| UBTFL1(NM_001143975,upstream binding transcription factor, RNA polymerase I-like 1,393aa) | g.11:89819403G>C,c.286G>C,p.G96R |
| UBTFL1(NM_001143975,upstream binding transcription factor, RNA polymerase I-like 1,393aa) | g.11:89819304A>G,c.187A>G,p.I63V |
| UBTD2(NM_152277,ubiquitin domain containing 2,234aa) | g.5:171710619C>A,c.51G>T,p.E17D |
| UBTD2(NM_152277,ubiquitin domain containing 2,234aa) | g.5:171639152C>T,c.387G>A,p.M129I |
| UBTD1(NM_024954,ubiquitin domain containing 1,227aa) | g.10:99330101G>A,c.505G>A,p.D169N |
| UBTD1(NM_024954,ubiquitin domain containing 1,227aa) | g.10:99330029G>A,c.433G>A,p.V145M |
| UBTD1(NM_024954,ubiquitin domain containing 1,227aa) | g.10:99327673C>T,c.73C>T,p.R25C |
| UBR7(NM_175748,ubiquitin protein ligase E3 component n-recognin 7 (putative),425aa) | g.14:93685612C>G,c.865C>G,p.Q289E |
| UBR7(NM_175748,ubiquitin protein ligase E3 component n-recognin 7 (putative),425aa) | g.14:93685577G>A,c.830G>A,p.S277N |
| UBR7(NM_175748,ubiquitin protein ligase E3 component n-recognin 7 (putative),425aa) | g.14:93685055G>A,c.784G>A,p.G262S |
| UBR7(NM_175748,ubiquitin protein ligase E3 component n-recognin 7 (putative),425aa) | g.14:93673655G>A,c.19G>A,p.A7T |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103424415G>C,c.48C>G,p.D16E |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103335597G>T,c.1726C>A,p.L576I |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103323709G>C,c.2434C>G,p.L812V |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103293539T>A,c.5905A>T,p.T1969S |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103291407A>G,c.6031T>C,p.S2011P |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103289360G>A,c.6349C>T,p.R2117W |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103281207G>A,c.7360C>T,p.R2454W |
| UBR5(NM_015902,ubiquitin protein ligase E3 component n-recognin 5,2799aa) | g.8:103273415C>T,c.7915G>A,p.A2639T |
| UBR4(NM_020765,ubiquitin protein ligase E3 component n-recognin 4,5183aa) | g.1:19518991C>T,c.1187G>A,p.R396H |
| UBR4(NM_020765,ubiquitin protein ligase E3 component n-recognin 4,5183aa) | g.1:19510348T>C,c.2141A>G,p.N714S |