| 基因名 | 突变 |
|---|---|
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83667048G>A,c.1132C>T,p.R378C |
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83667045C>T,c.1135G>A,p.V379M |
| UBE3D(NM_198920,ubiquitin protein ligase E3D,389aa) | g.6:83667038G>T,c.1142C>A,p.S381Y |
| UBE3C(NM_014671,ubiquitin protein ligase E3C,1083aa) | g.7:157046754A>C,c.2801A>C,p.Q934P |
| UBE3C(NM_014671,ubiquitin protein ligase E3C,1083aa) | g.7:157041215G>A,c.2635G>A,p.D879N |
| UBE3C(NM_014671,ubiquitin protein ligase E3C,1083aa) | g.7:156979555A>G,c.1171A>G,p.I391V |
| UBE3C(NM_014671,ubiquitin protein ligase E3C,1083aa) | g.7:156976655G>A,c.1075G>A,p.A359T |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109972466G>A,c.3086G>A,p.R1029H |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109968452A>G,c.2911A>G,p.M971V |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109962277C>T,c.2537C>T,p.T846M |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109959318G>A,c.2326G>A,p.E776K |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109940897G>A,c.1352G>A,p.R451Q |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109937534G>A,c.1037G>A,p.R346Q |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109937519C>T,c.1022C>T,p.T341M |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109936072G>A,c.854G>A,p.R285H |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109936056T>C,c.838T>C,p.S280P |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109936039G>A,c.821G>A,p.R274H |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109928863G>A,c.644G>A,p.R215H |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109926465G>A,c.536G>A,p.R179Q |
| UBE3B(NM_130466,ubiquitin protein ligase E3B,1068aa) | g.12:109921448G>A,c.92G>A,p.R31Q |
| UBE3A(NM_000462,ubiquitin protein ligase E3A,875aa) | g.15:25616729C>T,c.601G>A,p.A201T |
| UBE2W(NM_001001481,ubiquitin-conjugating enzyme E2W (putative),191aa) | g.8:74706352del,c.563-2del,p.188Acceptordel |
| UBE2V2(NM_003350,ubiquitin-conjugating enzyme E2 variant 2,145aa) | g.8:48955652G>A,c.76G>A,p.V26I |
| UBE2U(NM_152489,ubiquitin-conjugating enzyme E2U (putative),226aa) | g.1:64686577C>T,c.493C>T,p.R165C |
| UBE2U(NM_152489,ubiquitin-conjugating enzyme E2U (putative),226aa) | g.1:64686574C>T,c.490C>T,p.P164S |
| UBE2T(NM_014176,ubiquitin-conjugating enzyme E2T (putative),197aa) | g.1:202304812C>T,c.71G>A,p.C24Y |
| UBE2S(NM_014501,ubiquitin-conjugating enzyme E2S,222aa) | g.19:55918226G>C,c.108C>G,p.N36K |
| UBE2S(NM_014501,ubiquitin-conjugating enzyme E2S,222aa) | g.19:55912946T>G,c.527A>C,p.E176A |