| 基因名 | 突变 |
|---|---|
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43943077T>A,c.892T>A,p.C298S |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43942708C>G,c.791C>G,p.P264R |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43940531_43940542del,c.381_392del,p.127_131del |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43940524G>T,c.374G>T,p.G125V |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43940260T>C,c.289T>C,p.S97P |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43938332G>A,c.257G>A,p.R86Q |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43938284G>A,c.209G>A,p.R70Q |
| RBPJL(NM_001281448,recombination signal binding protein for immunoglobulin kappa J region-like,471aa) | g.20:43936836G>C,c.76G>C,p.E26Q |
| RBP7(NM_052960,retinol binding protein 7, cellular,134aa) | g.1:10068320C>A,c.342C>A,p.D114E |
| RBP7(NM_052960,retinol binding protein 7, cellular,134aa) | g.1:10067715C>T,c.161C>T,p.T54M |
| RBP5(NM_031491,retinol binding protein 5, cellular,135aa) | g.12:7281317C>T,c.55G>A,p.D19N |
| RBP5(NM_031491,retinol binding protein 5, cellular,135aa) | g.12:7280880C>G,c.208G>C,p.E70Q |
| RBP5(NM_031491,retinol binding protein 5, cellular,135aa) | g.12:7280874C>G,c.214G>C,p.E72Q |
| RBP5(NM_031491,retinol binding protein 5, cellular,135aa) | g.12:7280847G>A,c.241C>T,p.R81X |
| RBP5(NM_031491,retinol binding protein 5, cellular,135aa) | g.12:7277236T>A,c.343A>T,p.M115L |
| RBP4(NM_006744,retinol binding protein 4, plasma,201aa) | g.10:95360210C>T,c.295G>A,p.E99K |
| RBP4(NM_006744,retinol binding protein 4, plasma,201aa) | g.10:95353604G>T,c.544C>A,p.Q182K |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48390781T>C,c.97A>G,p.K33E |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48390388C>A,c.490G>T,p.A164S |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48390367G>T,c.511C>A,p.H171N |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48390151C>T,c.727G>A,p.A243T |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48390150G>A,c.728C>T,p.A243V |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48390091C>A,c.787G>T,p.A263S |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48389841C>T,c.1037G>A,p.R346H |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48389707C>T,c.1171G>A,p.G391R |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48389623C>T,c.1255G>A,p.E419K |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48389298G>A,c.1580C>T,p.P527L |
| RBP3(NM_002900,retinol binding protein 3, interstitial,1247aa) | g.10:48389247C>T,c.1631G>A,p.R544H |