| 基因名 | 突变 |
|---|---|
| UBE2D4(NM_015983,ubiquitin-conjugating enzyme E2D 4 (putative),147aa) | g.7:43978084G>A,c.79G>A,p.G27S |
| UBE2C(NM_181802,ubiquitin-conjugating enzyme E2C,140aa) | g.20:44444550C>T,c.362C>T,p.T121I |
| UBE2C(NM_181802,ubiquitin-conjugating enzyme E2C,140aa) | g.20:44444545C>A,c.357C>A,p.N119K |
| UBE2C(NM_181802,ubiquitin-conjugating enzyme E2C,140aa) | g.20:44443062G>A,c.52G>A,p.D18N |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29524003A>G,c.152T>C,p.L51S |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523952A>G,c.203T>C,p.I68T |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523872A>G,c.283T>C,p.S95P |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523859G>C,c.296C>G,p.A99G |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523797C>T,c.358G>A,p.E120K |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523787G>A,c.368C>T,p.T123M |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523676C>G,c.479G>C,p.C160S |
| UBD(NM_006398,ubiquitin D,165aa) | g.6:29523670C>A,c.485G>T,p.C162F |
| UBC(NM_021009,ubiquitin C,685aa) | g.12:125397750A>G,c.568T>C,p.S190P |
| UBC(NM_021009,ubiquitin C,685aa) | g.12:125397558C>T,c.760G>A,p.V254I |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122678778A>G,c.1706A>G,p.N569S |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122669676A>T,c.1384A>T,p.I462F |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122659865C>A,c.829C>A,p.P277T |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122647787G>A,c.271G>A,p.V91I |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122646967G>A,c.202G>A,p.A68T |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122526821G>C,c.64G>C,p.V22L |
| UBASH3B(NM_032873,ubiquitin associated and SH3 domain containing B,649aa) | g.11:122526821G>A,c.64G>A,p.V22I |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43867290A>G,c.1972A>G,p.I658V |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43867288G>C,c.1970G>C,p.W657S |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43863475T>G,c.1685T>G,p.M562R |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43863456G>A,c.1666G>A,p.E556K |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43857604C>T,c.1400C>T,p.A467V |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43857602C>G,c.1398C>G,p.D466E |
| UBASH3A(NM_018961,ubiquitin associated and SH3 domain containing A,661aa) | g.21:43852218G>A,c.1177G>A,p.V393I |