| 基因名 | 突变 |
|---|---|
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536852A>G,c.820T>C,p.Y274H |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536848G>A,c.824C>T,p.A275V |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536759G>A,c.913C>T,p.Q305X |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536684G>A,c.988C>T,p.R330X |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536593G>A,c.1079C>T,p.T360I |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536548C>T,c.1124G>A,p.R375Q |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536537A>C,c.1135T>G,p.W379G |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536527G>C,c.1145C>G,p.A382G |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536501G>T,c.1171C>A,p.Q391K |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536476G>C,c.1196C>G,p.A399G |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536386A>G,c.1286T>C,p.M429T |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536309G>C,c.1363C>G,p.Q455E |
| UBQLN4(NM_020131,ubiquilin 4,601aa) | g.1:156018299C>T,c.893G>A,p.R298Q |
| UBQLN4(NM_020131,ubiquilin 4,601aa) | g.1:156011444T>C,c.1485A>G,p.I495M |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5530703G>A,c.86C>T,p.P29L |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5530554A>T,c.235T>A,p.C79S |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5530504G>T,c.285C>A,p.H95Q |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5530349T>A,c.440A>T,p.Y147F |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5530148G>A,c.641C>T,p.P214L |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529995A>G,c.794T>C,p.M265T |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529987C>T,c.802G>A,p.A268T |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529944G>A,c.845C>T,p.T282I |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529936T>C,c.853A>G,p.N285D |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529920G>C,c.869C>G,p.T290S |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529629G>A,c.1160C>T,p.S387F |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529595C>A,c.1194G>T,p.E398D |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529407G>T,c.1382C>A,p.S461Y |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529215C>T,c.1574G>A,p.R525Q |