| 基因名 | 突变 |
|---|---|
| RIMBP2(NM_015347,RIMS binding protein 2,1052aa) | g.12:130897323C>T,c.2662G>A,p.D888N |
| RIMBP2(NM_015347,RIMS binding protein 2,1052aa) | g.12:130892350C>T,c.2846G>A,p.R949H |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1553040C>T,c.59G>A,p.G20E |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1552787C>T,c.241G>A,p.A81T |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1552519C>T,c.404G>A,p.R135Q |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1551768C>A,c.697G>T,p.G233W |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1551762G>C,c.703C>G,p.P235A |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1551656G>A,c.809C>T,p.A270V |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1551231C>T,c.842G>A,p.R281Q |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1551223C>T,c.850G>A,p.G284S |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1549897G>A,c.1045C>T,p.R349W |
| RILP(NM_031430,Rab interacting lysosomal protein,401aa) | g.17:1549767C>A,c.1175G>T,p.C392F |
| RILPL2(NM_145058,Rab interacting lysosomal protein-like 2,211aa) | g.12:123915089G>C,c.457C>G,p.L153V |
| RILPL1(NM_178314,Rab interacting lysosomal protein-like 1,403aa) | g.12:124008074T>C,c.428A>G,p.N143S |
| RILPL1(NM_178314,Rab interacting lysosomal protein-like 1,403aa) | g.12:123983140C>T,c.752G>A,p.R251Q |
| RILPL1(NM_178314,Rab interacting lysosomal protein-like 1,403aa) | g.12:123970282C>T,c.872G>A,p.R291H |
| RILPL1(NM_178314,Rab interacting lysosomal protein-like 1,403aa) | g.12:123968766G>A,c.1028C>T,p.P343L |
| RIIAD1(NM_001144956,regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1,92aa) | g.1:151694626G>A,c.149G>A,p.S50N |
| RIIAD1(NM_001144956,regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1,92aa) | g.1:151694614A>G,c.137A>G,p.E46G |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152331502G>A,c.7258G>A,p.E2420K |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152331495A>C,c.7251A>C,p.E2417D |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152331418C>G,c.7174C>G,p.L2392V |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152330562C>T,c.7102C>T,p.P2368S |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152324595T>G,c.6682T>G,p.S2228A |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152322170A>G,c.6136A>G,p.T2046A |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152322122A>G,c.6088A>G,p.M2030V |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152322095A>T,c.6061A>T,p.N2021Y |
| RIF1(NM_001177665,RAP1 interacting factor homolog (yeast),2446aa) | g.2:152321618G>A,c.5584G>A,p.V1862I |