| 基因名 | 突变 |
|---|---|
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73721300C>T,c.1301C>T,p.A434V |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73721248C>T,c.1249C>T,p.R417W |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73720608C>A,c.1160C>A,p.P387H |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73720604C>A,c.1156C>A,p.P386T |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73720547G>A,c.1099G>A,p.G367R |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73719484G>A,c.1013+1G>A,p.338Donor |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73719455A>C,c.985A>C,p.N329H |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73719447G>A,c.977G>A,p.R326H |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73719443C>G,c.973C>G,p.R325G |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73719407G>A,c.937G>A,p.D313N |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73718525C>T,c.743C>T,p.S248L |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73718500C>T,c.718C>T,p.R240X |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73718470C>T,c.688C>T,p.R230W |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73718435C>T,c.653C>T,p.A218V |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73717720G>A,c.571G>A,p.A191T |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73717669C>T,c.520C>T,p.R174W |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73712854G>A,c.305G>A,p.R102Q |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73711394A>G,c.97A>G,p.S33G |
| PAPLN(NM_173462,papilin, proteoglycan-like sulfated glycoprotein,1251aa) | g.14:73706541G>A,c.54+1G>A,p.18Donor |
| PAPD7(NM_006999,PAP associated domain containing 7,542aa) | g.5:6754890G>C,c.1461G>C,p.M487I |
| PAPD7(NM_006999,PAP associated domain containing 7,542aa) | g.5:6753130A>G,c.1414A>G,p.S472G |
| PAPD7(NM_006999,PAP associated domain containing 7,542aa) | g.5:6750519C>T,c.1013C>T,p.P338L |
| PAPD7(NM_006999,PAP associated domain containing 7,542aa) | g.5:6749756C>T,c.923C>T,p.P308L |
| PAPD7(NM_006999,PAP associated domain containing 7,542aa) | g.5:6738823G>A,c.118G>A,p.G40S |
| PAPD5(NM_001040284,PAP associated domain containing 5,698aa) | g.16:50263152A>T,c.2010A>T,p.Q670H |
| PAPD5(NM_001040284,PAP associated domain containing 5,698aa) | g.16:50261823C>T,c.1829C>T,p.S610L |
| PAPD5(NM_001040284,PAP associated domain containing 5,698aa) | g.16:50259156_50259157insGTC,c.1715_1716insGTC,p.572ins1aa |
| PAPD5(NM_001040284,PAP associated domain containing 5,698aa) | g.16:50187896G>A,c.319G>A,p.A107T |