| Genename | Variants |
|---|---|
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461603T>G,c.314A>C,p.Q105P |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461592G>A,c.325C>T,p.Q109X |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461580T>G,c.337A>C,p.T113P |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461570G>T,c.347C>A,p.P116H |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461553T>C,c.364A>G,p.R122G |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461553_11461554insTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTCGTCC,c.363_364insGGACGACCCCCACAAGGAGGCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAA,p.121_122ins21aa |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461549G>C,c.368C>G,p.P123R |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461521G>T,c.396C>A,p.H132Q |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461520G>C,c.397C>G,p.R133G |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461519C>T,c.398G>A,p.R133H |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461507G>T,c.410C>A,p.P137H |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461414T>C,c.503A>G,p.Q168R |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461292C>G,c.625G>C,p.A209P |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461241C>T,c.676G>A,p.G226R |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461223G>A,c.694C>T,p.Q232X |
| PRB4(NM_002723,proline-rich protein BstNI subfamily 4,247aa) | g.12:11461154C>G,c.*18+1G>C,p.3'UTRDonor |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11421001G>C,c.182C>G,p.P61R |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420962C>G,c.221G>C,p.R74P |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420941G>T,c.242C>A,p.P81Q |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420893C>T,c.290G>A,p.G97E |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420881C>T,c.302G>A,p.G101E |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420866C>T,c.317G>A,p.G106E |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420816G>A,c.367C>T,p.P123S |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420773C>T,c.410G>A,p.R137H |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420752G>T,c.431C>A,p.P144Q |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420710C>T,c.473G>A,p.R158H |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420647T>C,c.536A>G,p.H179R |
| PRB3(NM_006249,proline-rich protein BstNI subfamily 3,309aa) | g.12:11420629C>A,c.554G>T,p.G185V |