| 基因名 | 突变 |
|---|---|
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529206T>G,c.1583A>C,p.E528A |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529192C>T,c.1597G>A,p.V533I |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5529152A>G,c.1637T>C,p.M546T |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5528918C>T,c.1871G>A,p.R624Q |
| UBQLN3(NM_017481,ubiquilin 3,655aa) | g.11:5528859C>T,c.1930G>A,p.D644N |
| UBQLN2(NM_013444,ubiquilin 2,624aa) | g.X:56591751T>G,c.1445T>G,p.V482G |
| UBQLN1(NM_013438,ubiquilin 1,589aa) | g.9:86292726T>C,c.1021A>G,p.T341A |
| UBQLN1(NM_013438,ubiquilin 1,589aa) | g.9:86292683C>A,c.1064G>T,p.G355V |
| UBQLN1(NM_013438,ubiquilin 1,589aa) | g.9:86284219T>C,c.1129A>G,p.M377V |
| UBP1(NM_014517,upstream binding protein 1 (LBP-1a),540aa) | g.3:33467112G>A,c.235C>T,p.H79Y |
| UBP1(NM_014517,upstream binding protein 1 (LBP-1a),540aa) | g.3:33458266T>C,c.326A>G,p.N109S |
| UBP1(NM_014517,upstream binding protein 1 (LBP-1a),540aa) | g.3:33453135T>C,c.493A>G,p.S165G |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3103959T>C,c.53A>G,p.K18R |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3103188C>T,c.97G>A,p.D33N |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3102855C>T,c.430G>A,p.A144T |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3102747C>A,c.538G>T,p.V180L |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3102636G>C,c.649C>G,p.L217V |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3102335T>C,c.950A>G,p.Q317R |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3096055G>A,c.1313C>T,p.T438I |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3090942A>G,c.1436T>C,p.L479P |
| UBOX5(NM_014948,U-box domain containing 5,541aa) | g.20:3090789G>A,c.1589C>T,p.P530L |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138978680C>T,c.3947C>T,p.T1316M |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138978679A>G,c.3946A>G,p.T1316A |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138968588G>A,c.2937G>A,p.M979I |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138968122C>T,c.2471C>T,p.T824I |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138967987A>G,c.2336A>G,p.N779S |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138967824A>G,c.2173A>G,p.S725G |
| UBN2(NM_173569,ubinuclein 2,1347aa) | g.7:138946363C>T,c.1271C>T,p.S424L |