| 基因名 | 突变 |
|---|---|
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144652668G>A,c.880C>T,p.R294X |
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144651881G>T,c.1288C>A,p.L430M |
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144650059C>G,c.1765-1G>C,p.589Acceptor |
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144650001G>A,c.1822C>T,p.R608W |
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144649968C>T,c.1855G>A,p.A619T |
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144649816C>A,c.1898G>T,p.C633F |
| MROH6(NM_001100878,maestro heat-like repeat family member 6,719aa) | g.8:144649541_144649542insC,c.2027_2028insG,p.676fs |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142517227C>T,c.23G>A,p.R8K |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142517222A>G,c.28T>C,p.Y10H |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142517186C>T,c.64G>A,p.V22M |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142506589del,c.93del,p.31fs |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142506570C>A,c.112G>T,p.D38Y |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142506461A>G,c.221T>C,p.L74P |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142505578C>A,c.268G>T,p.G90C |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142505038T>C,c.409-1A>G,p.137Acceptor |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142505015C>T,c.431G>A,p.R144Q |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142504974C>T,c.472G>A,p.V158I |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142500352C>T,c.562G>A,p.A188T |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142500345C>T,c.569G>A,p.S190N |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142500315G>A,c.599C>T,p.S200L |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142500309C>T,c.605G>A,p.R202Q |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142490120G>T,c.865C>A,p.L289M |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142489410A>G,c.992T>C,p.L331S |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142488837G>A,c.1124C>T,p.A375V |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142488805C>T,c.1156G>A,p.V386M |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142487937C>T,c.1304G>A,p.R435Q |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142487914C>T,c.1327G>A,p.E443K |
| MROH5(NM_207414,maestro heat-like repeat family member 5,1318aa) | g.8:142487895T>A,c.1346A>T,p.E449V |