| 基因名 | 突变 |
|---|---|
| UBAP2(NM_018449,ubiquitin associated protein 2,1119aa) | g.9:33922974T>C,c.3062A>G,p.N1021S |
| UBAP2(NM_018449,ubiquitin associated protein 2,1119aa) | g.9:33922866T>C,c.3083A>G,p.K1028R |
| UBAP2L(NM_014847,ubiquitin associated protein 2-like,1087aa) | g.1:154229623C>G,c.2242C>G,p.P748A |
| UBAP2L(NM_014847,ubiquitin associated protein 2-like,1087aa) | g.1:154227639T>C,c.1921T>C,p.S641P |
| UBAP2L(NM_014847,ubiquitin associated protein 2-like,1087aa) | g.1:154226392A>G,c.1681A>G,p.I561V |
| UBAP2L(NM_014847,ubiquitin associated protein 2-like,1087aa) | g.1:154223544T>C,c.1241T>C,p.V414A |
| UBAP2L(NM_014847,ubiquitin associated protein 2-like,1087aa) | g.1:154221895C>T,c.1195C>T,p.P399S |
| UBAP1(NM_001171203,ubiquitin associated protein 1,502aa) | g.9:34249886C>T,c.1193C>T,p.T398M |
| UBAP1(NM_001171203,ubiquitin associated protein 1,502aa) | g.9:34249882G>A,c.1189G>A,p.E397K |
| UBAP1(NM_001171203,ubiquitin associated protein 1,502aa) | g.9:34242094T>A,c.1071T>A,p.N357K |
| UBAP1(NM_001171203,ubiquitin associated protein 1,502aa) | g.9:34241808A>G,c.785A>G,p.N262S |
| UBAP1(NM_001171203,ubiquitin associated protein 1,502aa) | g.9:34241616A>G,c.593A>G,p.N198S |
| UBAP1L(NM_001163692,ubiquitin associated protein 1-like,381aa) | g.15:65391991T>C,c.761A>G,p.H254R |
| UBAP1L(NM_001163692,ubiquitin associated protein 1-like,381aa) | g.15:65385511C>T,c.1070G>A,p.R357Q |
| UBALD2(NM_182565,UBA-like domain containing 2,164aa) | g.17:74266348G>A,c.257G>A,p.R86H |
| UBAC2(NM_001144072,UBA domain containing 2,344aa) | g.13:99992592G>A,c.580G>A,p.D194N |
| UBAC2(NM_001144072,UBA domain containing 2,344aa) | g.13:99970297A>G,c.535A>G,p.I179V |
| UBAC2(NM_001144072,UBA domain containing 2,344aa) | g.13:99896821T>C,c.332T>C,p.I111T |
| UBAC2(NM_001144072,UBA domain containing 2,344aa) | g.13:99890725C>T,c.76C>T,p.L26F |
| UBAC2(NM_001144072,UBA domain containing 2,344aa) | g.13:100020114G>A,c.881G>A,p.R294Q |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138852938G>A,c.71C>T,p.A24V |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138847255G>A,c.145C>T,p.H49Y |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138839708C>T,c.377G>A,p.R126Q |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138838178C>T,c.481G>A,p.E161K |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138837034G>A,c.716C>T,p.T239M |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138836968G>T,c.782C>A,p.A261E |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138836957C>T,c.793G>A,p.A265T |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138836946C>A,c.804G>T,p.E268D |