| 基因名 | 突变 |
|---|---|
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183443G>A,c.2171C>T,p.S724L |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183332C>T,c.2282G>A,p.G761E |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183285C>T,c.2329G>A,p.A777T |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197182046G>A,c.2386C>T,p.R796C |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197171262C>T,c.2764G>A,p.V922M |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197081790C>T,c.4436G>A,p.R1479Q |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43540318G>A,c.3458G>A,p.R1153Q |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43531772G>T,c.3333G>T,p.L1111F |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43531734G>C,c.3295G>C,p.V1099L |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43508620C>G,c.3015C>G,p.D1005E |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43495992C>T,c.2597C>T,p.P866L |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43495971G>A,c.2576G>A,p.R859H |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43485109G>A,c.2338G>A,p.V780M |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43484632G>A,c.1861G>A,p.E621K |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43484275G>C,c.1504G>C,p.E502Q |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43484218A>G,c.1447A>G,p.K483E |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43483981G>C,c.1210G>C,p.G404R |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43483912C>T,c.1141C>T,p.R381W |
| HECW1(NM_015052,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1,1606aa) | g.7:43436443G>A,c.586G>A,p.V196I |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112712675G>A,c.1345C>T,p.R449C |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112708167T>C,c.1607A>G,p.N536S |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112699118C>T,c.2432G>A,p.R811H |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112696326C>A,c.2670G>T,p.Q890H |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112681251C>T,c.4462G>A,p.V1488M |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112673047T>A,c.5347A>T,p.T1783S |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112673029T>A,c.5365A>T,p.T1789S |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112667564C>T,c.6055G>A,p.V2019I |
| HECTD4(NM_001109662,HECT domain containing E3 ubiquitin protein ligase 4,4284aa) | g.12:112654688T>A,c.6872A>T,p.Y2291F |