| 基因名 | 突变 |
|---|---|
| UBIAD1(NM_013319,UbiA prenyltransferase domain containing 1,338aa) | g.1:11333812C>T,c.224C>T,p.S75F |
| UBFD1(NM_019116,ubiquitin family domain containing 1,309aa) | g.16:23573587G>A,c.625G>A,p.A209T |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10228220G>C,c.3225G>C,p.Q1075H |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10211395A>C,c.2702A>C,p.Q901P |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10197241C>T,c.2341C>T,p.R781W |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10190575G>C,c.1713G>C,p.L571F |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10177642A>G,c.1322A>G,p.E441G |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10166437G>A,c.992G>A,p.R331H |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10166389C>T,c.944C>T,p.A315V |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10166271C>T,c.826C>T,p.P276S |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10165771G>A,c.778G>A,p.V260M |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10163148A>G,c.578A>G,p.E193G |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10163142C>G,c.572C>G,p.P191R |
| UBE4B(NM_001105562,ubiquitination factor E4B,1302aa) | g.1:10163120T>G,c.550T>G,p.S184A |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118267102A>G,c.3169A>G,p.K1057E |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118257193G>A,c.2474G>A,p.R825Q |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118255400C>T,c.2269C>T,p.P757S |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118252171G>A,c.1963G>A,p.E655K |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118250412T>C,c.1844T>C,p.I615T |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118245725G>A,c.1252G>A,p.A418T |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118245629_118245630insA,c.1156_1157insA,p.386fs |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118244239C>G,c.976C>G,p.P326A |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118243401C>G,c.741C>G,p.I247M |
| UBE4A(NM_004788,ubiquitination factor E4A,1073aa) | g.11:118243292G>A,c.632G>A,p.R211Q |
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83754277G>A,c.467C>T,p.P156L |
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83754169G>T,c.575C>A,p.S192Y |
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83728726G>A,c.976C>T,p.L326F |
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83667131G>A,c.1049C>T,p.P350L |