| 基因名 | 突变 |
|---|---|
| PAX4(NM_006193,paired box 4,343aa) | g.7:127253550C>T,c.575G>A,p.R192H |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127253115G>A,c.652C>T,p.R218C |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127253114C>T,c.653G>A,p.R218H |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127251732_127251733insA,c.748-2insT,p.250Acceptorins |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127251242G>A,c.908C>T,p.P303L |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127251188T>G,c.962A>C,p.H321P |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127251150G>A,c.1000C>T,p.P334S |
| PAX3(NM_181458,paired box 3,484aa) | g.2:223085955G>T,c.944C>A,p.T315K |
| PAX3(NM_181458,paired box 3,484aa) | g.2:223085029G>A,c.1003C>T,p.P335S |
| PAX2(NM_003988,paired box 2,396aa) | g.10:102586802A>C,c.1141A>C,p.S381R |
| PAX2(NM_003988,paired box 2,396aa) | g.10:102566226G>A,c.656G>A,p.S219N |
| PAX2(NM_003988,paired box 2,396aa) | g.10:102509529del,c.70del,p.24fs |
| PAX1(NM_001257096,paired box 1,457aa) | g.20:21687344G>A,c.555G>A,p.K185K |
| PAWR(NM_002583,PRKC, apoptosis, WT1, regulator,340aa) | g.12:80083931C>T,c.94G>A,p.A32T |
| PAWR(NM_002583,PRKC, apoptosis, WT1, regulator,340aa) | g.12:80083792G>C,c.233C>G,p.P78R |
| PAWR(NM_002583,PRKC, apoptosis, WT1, regulator,340aa) | g.12:80083654T>C,c.371A>G,p.Q124R |
| PAWR(NM_002583,PRKC, apoptosis, WT1, regulator,340aa) | g.12:80014927T>C,c.577A>G,p.I193V |
| PAWR(NM_002583,PRKC, apoptosis, WT1, regulator,340aa) | g.12:80014907A>C,c.597T>G,p.I199M |
| PATZ1(NM_014323,POZ (BTB) and AT hook containing zinc finger 1,687aa) | g.22:31740804G>C,c.785C>G,p.T262S |
| PATZ1(NM_014323,POZ (BTB) and AT hook containing zinc finger 1,687aa) | g.22:31740735del,c.854del,p.285fs |
| PATZ1(NM_014323,POZ (BTB) and AT hook containing zinc finger 1,687aa) | g.22:31722886T>G,c.2055A>C,p.E685D |
| PATZ1(NM_014323,POZ (BTB) and AT hook containing zinc finger 1,687aa) | g.22:31722884C>T,c.2057G>A,p.G686E |
| PATL2(NM_001145112,protein associated with topoisomerase II homolog 2 (yeast),543aa) | g.15:44967847A>G,c.59T>C,p.L20P |
| PATL2(NM_001145112,protein associated with topoisomerase II homolog 2 (yeast),543aa) | g.15:44966389T>C,c.262A>G,p.M88V |
| PATL2(NM_001145112,protein associated with topoisomerase II homolog 2 (yeast),543aa) | g.15:44964635G>A,c.466C>T,p.P156S |
| PATL2(NM_001145112,protein associated with topoisomerase II homolog 2 (yeast),543aa) | g.15:44962188G>A,c.755C>T,p.P252L |
| PATL2(NM_001145112,protein associated with topoisomerase II homolog 2 (yeast),543aa) | g.15:44962046G>T,c.805C>A,p.Q269K |
| PATL2(NM_001145112,protein associated with topoisomerase II homolog 2 (yeast),543aa) | g.15:44962037C>T,c.814G>A,p.V272M |