| 基因名 | 突变 |
|---|---|
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139232443T>G,c.2034A>C,p.E678D |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139232424G>A,c.2053C>T,p.P685S |
| REPS1(NM_031922,RALBP1 associated Eps domain containing 1,795aa) | g.6:139229872C>T,c.2146G>A,p.V716I |
| REPIN1(NM_013400,replication initiator 1,567aa) | g.7:150069396_150069407del,c.1066_1077del,p.356_359del |
| REPIN1(NM_013400,replication initiator 1,567aa) | g.7:150068800G>A,c.470G>A,p.R157Q |
| REPIN1(NM_013400,replication initiator 1,567aa) | g.7:150068620C>T,c.290C>T,p.A97V |
| REPIN1(NM_013400,replication initiator 1,567aa) | g.7:150068605G>A,c.275G>A,p.R92H |
| REPIN1(NM_013400,replication initiator 1,567aa) | g.7:150068439G>A,c.109G>A,p.G37R |
| REPIN1(NM_013400,replication initiator 1,567aa) | g.7:150068371T>C,c.41T>C,p.L14P |
| REP15(NM_001029874,RAB15 effector protein,236aa) | g.12:27850113A>T,c.618A>T,p.E206D |
| REP15(NM_001029874,RAB15 effector protein,236aa) | g.12:27849961G>T,c.466G>T,p.G156X |
| REP15(NM_001029874,RAB15 effector protein,236aa) | g.12:27849796A>G,c.301A>G,p.N101D |
| REP15(NM_001029874,RAB15 effector protein,236aa) | g.12:27849666G>C,c.171G>C,p.E57D |
| REN(NM_000537,renin,406aa) | g.1:204130528C>T,c.265G>A,p.E89K |
| REN(NM_000537,renin,406aa) | g.1:204130437C>T,c.356G>A,p.R119H |
| REN(NM_000537,renin,406aa) | g.1:204129738G>A,c.442C>T,p.R148C |
| REN(NM_000537,renin,406aa) | g.1:204128567C>T,c.649G>A,p.G217R |
| REN(NM_000537,renin,406aa) | g.1:204125913G>A,c.710C>T,p.S237L |
| RENBP(NM_002910,renin binding protein,427aa) | g.X:153208488T>C,c.506A>G,p.Q169R |
| RENBP(NM_002910,renin binding protein,427aa) | g.X:153208365G>A,c.629C>T,p.A210V |
| RENBP(NM_002910,renin binding protein,427aa) | g.X:153207037G>T,c.839C>A,p.A280D |
| RENBP(NM_002910,renin binding protein,427aa) | g.X:153207025T>C,c.851A>G,p.D284G |
| REM2(NM_173527,RAS (RAD and GEM)-like GTP binding 2,340aa) | g.14:23354213C>T,c.434C>T,p.P145L |
| REM2(NM_173527,RAS (RAD and GEM)-like GTP binding 2,340aa) | g.14:23354066G>C,c.287G>C,p.G96A |
| REM2(NM_173527,RAS (RAD and GEM)-like GTP binding 2,340aa) | g.14:23352570G>A,c.74G>A,p.R25Q |
| REM1(NM_014012,RAS (RAD and GEM)-like GTP-binding 1,298aa) | g.20:30072136G>A,c.800G>A,p.R267H |
| REM1(NM_014012,RAS (RAD and GEM)-like GTP-binding 1,298aa) | g.20:30072093A>G,c.757A>G,p.K253E |
| REM1(NM_014012,RAS (RAD and GEM)-like GTP-binding 1,298aa) | g.20:30070197C>G,c.531C>G,p.I177M |