| Genename | Variants |
|---|---|
| RWDD4(NM_152682,RWD domain containing 4,188aa) | g.4:184570715T>G,c.370A>C,p.I124L |
| RWDD3(NM_001278248,RWD domain containing 3,252aa) | g.1:95712385_95712387del,c.718_720del,p.240del |
| RWDD3(NM_001278248,RWD domain containing 3,252aa) | g.1:95712344C>T,c.677C>T,p.A226V |
| RWDD3(NM_001278248,RWD domain containing 3,252aa) | g.1:95710231C>G,c.505C>G,p.Q169E |
| RWDD3(NM_001278248,RWD domain containing 3,252aa) | g.1:95709939T>G,c.213T>G,p.N71K |
| RWDD3(NM_001278248,RWD domain containing 3,252aa) | g.1:95709821T>C,c.95T>C,p.V32A |
| RWDD2B(NM_016940,RWD domain containing 2B,319aa) | g.21:30380903G>A,c.107C>T,p.A36V |
| RWDD2B(NM_016940,RWD domain containing 2B,319aa) | g.21:30380774C>T,c.236G>A,p.R79Q |
| RWDD2B(NM_016940,RWD domain containing 2B,319aa) | g.21:30380588G>A,c.335C>T,p.P112L |
| RWDD2B(NM_016940,RWD domain containing 2B,319aa) | g.21:30380223T>C,c.584A>G,p.H195R |
| RWDD2B(NM_016940,RWD domain containing 2B,319aa) | g.21:30378938G>A,c.760C>T,p.R254C |
| RWDD2B(NM_016940,RWD domain containing 2B,319aa) | g.21:30378805T>C,c.893A>G,p.Y298C |
| RWDD1(NM_016104,RWD domain containing 1,147aa) | g.6:116911546G>A,c.238G>A,p.A80T |
| RUVBL2(NM_006666,RuvB-like AAA ATPase 2,463aa) | g.19:49506560_49506561insG,c.92_93insG,p.31fs |
| RUVBL2(NM_006666,RuvB-like AAA ATPase 2,463aa) | g.19:49502595C>T,c.32C>T,p.P11L |
| RUVBL1(NM_003707,RuvB-like AAA ATPase 1,456aa) | g.3:127831845T>C,c.247A>G,p.I83V |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35561342C>T,c.4514C>T,p.P1505L |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35561055A>G,c.4310A>G,p.Q1437R |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35560754_35560756del,c.4117_4119del,p.1373del |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35560716G>A,c.4079G>A,p.R1360Q |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35560515G>A,c.3878G>A,p.R1293H |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35560400G>A,c.3763G>A,p.G1255R |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35560352_35560357del,c.3715_3720del,p.1239_1240del |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35556365C>T,c.2903C>T,p.T968M |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35555684C>G,c.2642C>G,p.T881S |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35555458G>A,c.2416G>A,p.E806K |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35555393G>A,c.2351G>A,p.R784Q |
| RUSC2(NM_001135999,RUN and SH3 domain containing 2,1516aa) | g.9:35555204G>C,c.2162G>C,p.S721T |