| 基因名 | 突变 |
|---|---|
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138836942_138836944del,c.806_808del,p.269_270del |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138836906G>A,c.844C>T,p.R282W |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138830120G>C,c.1050C>G,p.I350M |
| UBAC1(NM_016172,UBA domain containing 1,405aa) | g.9:138825250G>A,c.1214C>T,p.T405M |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49851004C>T,c.133G>A,p.A45T |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49850729C>T,c.313G>A,p.V105I |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49850548C>A,c.414G>T,p.L138F |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49850508G>A,c.454C>T,p.R152W |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49850499C>T,c.463G>A,p.V155M |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49849598G>A,c.736C>T,p.R246W |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49849325C>T,c.917G>A,p.R306Q |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49849323G>C,c.919C>G,p.P307A |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49848857C>T,c.971G>A,p.R324Q |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49848752del,c.1076del,p.359fs |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49848713A>G,c.1115T>C,p.V372A |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49847737C>T,c.1592G>A,p.R531H |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49847699C>A,c.1630G>T,p.A544S |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49847428C>A,c.1822G>T,p.A608S |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49847281C>T,c.1871G>A,p.R624Q |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49845526T>C,c.2450A>G,p.H817R |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49845460C>G,c.2516G>C,p.R839P |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49845252G>A,c.2632C>T,p.R878C |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49843394C>G,c.2845G>C,p.G949R |
| UBA7(NM_003335,ubiquitin-like modifier activating enzyme 7,1012aa) | g.3:49843379A>G,c.2860T>C,p.Y954H |
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68562401C>T,c.96G>A,p.M32I |
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68547902G>T,c.164C>A,p.A55E |
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68534392C>T,c.670G>A,p.A224T |
| UBA6(NM_018227,ubiquitin-like modifier activating enzyme 6,1052aa) | g.4:68496234T>G,c.2278A>C,p.N760H |