| Genename | Variants |
|---|---|
| RBL2(NM_005611,retinoblastoma-like 2 (p130),1139aa) | g.16:53498223A>T,c.1646A>T,p.N549I |
| RBL2(NM_005611,retinoblastoma-like 2 (p130),1139aa) | g.16:53498141A>G,c.1564A>G,p.I522V |
| RBL2(NM_005611,retinoblastoma-like 2 (p130),1139aa) | g.16:53495731G>T,c.1425G>T,p.Q475H |
| RBL2(NM_005611,retinoblastoma-like 2 (p130),1139aa) | g.16:53495681A>G,c.1375A>G,p.I459V |
| RBL2(NM_005611,retinoblastoma-like 2 (p130),1139aa) | g.16:53481010A>G,c.629A>G,p.Y210C |
| RBL2(NM_005611,retinoblastoma-like 2 (p130),1139aa) | g.16:53476746G>A,c.548G>A,p.R183H |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35690560G>A,c.1010C>T,p.T337I |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35690500T>C,c.1070A>G,p.Q357R |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35675512G>A,c.1549C>T,p.R517C |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35675502G>C,c.1559C>G,p.P520R |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35635830G>A,c.2855C>T,p.A952V |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35632140C>G,c.3001G>C,p.A1001P |
| RBL1(NM_002895,retinoblastoma-like 1 (p107),1068aa) | g.20:35627264G>C,c.3105C>G,p.I1035M |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28113157A>G,c.56T>C,p.V19A |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28081439C>G,c.90-1G>C,p.30Acceptor |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28070934T>A,c.253A>T,p.I85L |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28065946G>A,c.502C>T,p.R168C |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28050589C>T,c.640G>A,p.A214T |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28050464del,c.765del,p.255fs |
| RBKS(NM_022128,ribokinase,322aa) | g.2:28004583T>C,c.868A>G,p.M290V |
| RBFOX3(NM_001082575,RNA binding protein, fox-1 homolog (C. elegans) 3,312aa) | g.17:77093488G>T,c.641C>A,p.P214H |
| RBFOX3(NM_001082575,RNA binding protein, fox-1 homolog (C. elegans) 3,312aa) | g.17:77091623C>T,c.829G>A,p.A277T |
| RBFOX2(NM_001031695,RNA binding protein, fox-1 homolog (C. elegans) 2,380aa) | g.22:36205949C>A,c.130G>T,p.V44L |
| RBFOX2(NM_001031695,RNA binding protein, fox-1 homolog (C. elegans) 2,380aa) | g.22:36205891C>T,c.188G>A,p.G63E |
| RBFOX2(NM_001031695,RNA binding protein, fox-1 homolog (C. elegans) 2,380aa) | g.22:36177780C>T,c.263G>A,p.G88E |
| RBFOX2(NM_001031695,RNA binding protein, fox-1 homolog (C. elegans) 2,380aa) | g.22:36164375C>G,c.472G>C,p.E158Q |
| RBFOX2(NM_001031695,RNA binding protein, fox-1 homolog (C. elegans) 2,380aa) | g.22:36142521C>T,c.1024G>A,p.G342S |
| RBFOX1(NM_018723,RNA binding protein, fox-1 homolog (C. elegans) 1,397aa) | g.16:7759119G>A,c.1057G>A,p.G353S |