| 基因名 | 突变 |
|---|---|
| RERGL(NM_024730,RERG/RAS-like,205aa) | g.12:18237466G>A,c.320C>T,p.T107I |
| RERGL(NM_024730,RERG/RAS-like,205aa) | g.12:18234352G>A,c.391C>T,p.R131X |
| RERGL(NM_024730,RERG/RAS-like,205aa) | g.12:18234256T>C,c.487A>G,p.M163V |
| RERGL(NM_024730,RERG/RAS-like,205aa) | g.12:18234195C>T,c.548G>A,p.R183H |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8716322_8716327del,c.30_35del,p.10_12del |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8716142G>A,c.215C>T,p.T72M |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8526071C>T,c.1117G>A,p.G373S |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8424130G>A,c.1726C>T,p.R576W |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8422906T>G,c.1741-2A>C,p.581Acceptor |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8422837T>C,c.1808A>G,p.N603S |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8421186G>A,c.2381C>T,p.P794L |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8420712G>A,c.2855C>T,p.S952L |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8420563C>T,c.3004G>A,p.A1002T |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8419873T>C,c.3569A>G,p.K1190R |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8419869_8419874del,c.3568_3573del,p.1190_1191del |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8418946G>A,c.3649C>T,p.L1217F |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8418666C>T,c.3929G>A,p.R1310Q |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8418541C>T,c.4054G>A,p.A1352T |
| RERE(NM_012102,arginine-glutamic acid dipeptide (RE) repeats,1566aa) | g.1:8416216T>C,c.4430A>G,p.N1477S |
| REPS2(NM_004726,RALBP1 associated Eps domain containing 2,660aa) | g.X:17152013_17152015del,c.1645_1647del,p.549del |
| REPS2(NM_004726,RALBP1 associated Eps domain containing 2,660aa) | g.X:17080647C>T,c.1201C>T,p.R401W |
| REPS2(NM_004726,RALBP1 associated Eps domain containing 2,660aa) | g.X:17047675G>T,c.700G>T,p.V234F |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139266401C>T,c.583G>A,p.A195T |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139251179G>A,c.1192C>T,p.P398S |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139234084G>A,c.1786C>T,p.P596S |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139234042T>C,c.1828A>G,p.I610V |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139234030T>C,c.1840A>G,p.S614G |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139233939T>C,c.1931A>G,p.Q644R |