| 基因名 | 突变 |
|---|---|
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43362998C>A,c.654G>T,p.Q218H |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43360142C>A,c.752G>T,p.C251F |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43348610T>C,c.1213A>G,p.S405G |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43317088G>A,c.2678C>T,p.T893I |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43317086C>T,c.2680G>A,p.V894I |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43317071T>C,c.2695A>G,p.I899V |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43299402G>A,c.3290C>T,p.T1097M |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43294867C>T,c.3545G>A,p.R1182H |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43290393A>G,c.3730T>C,p.S1244P |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43282285C>T,c.3791G>A,p.G1264E |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43282279C>T,c.3797G>A,p.G1266E |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43276168C>T,c.4077G>A,p.M1359I |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43270122C>G,c.4174G>C,p.E1392Q |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43256191T>C,c.4642A>G,p.T1548A |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43252850C>T,c.4750G>A,p.V1584M |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43250212T>C,c.4834A>G,p.R1612G |
| UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) | g.15:43237642C>T,c.5135G>A,p.R1712H |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537592G>C,c.80C>G,p.S27C |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537520G>A,c.152C>T,p.S51L |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537266G>A,c.406C>T,p.H136Y |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537245G>T,c.427C>A,p.Q143K |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537235A>T,c.437T>A,p.V146E |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537161A>G,c.511T>C,p.C171R |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537125G>A,c.547C>T,p.R183W |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537100A>G,c.572T>C,p.M191T |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537070G>A,c.602C>T,p.T201M |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5537034C>T,c.638G>A,p.R213H |
| UBQLNL(NM_145053,ubiquilin-like,475aa) | g.11:5536896C>T,c.776G>A,p.G259D |