| 基因名 | 突变 |
|---|---|
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176668688G>A,c.3199G>A,p.V1067M |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176668610C>T,c.3121C>T,p.H1041Y |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176668533G>A,c.3044G>A,p.G1015E |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176668526G>A,c.3037G>A,p.V1013M |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176564698G>A,c.1958G>A,p.R653H |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176564490G>A,c.1750G>A,p.V584M |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176564323A>T,c.1583A>T,p.Q528L |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176564292del,c.1552del,p.518fs |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176564092C>T,c.1352C>T,p.A451V |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176563980G>C,c.1240G>C,p.E414Q |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176563860C>T,c.1120C>T,p.R374W |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176563779G>A,c.1039G>A,p.V347M |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176563717G>A,c.977G>A,p.R326H |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176563716C>T,c.976C>T,p.R326C |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176526264G>A,c.806G>A,p.R269Q |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176526147G>C,c.689G>C,p.R230T |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176525970C>G,c.512C>G,p.T171S |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176525784C>T,c.326C>T,p.P109L |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176525546C>T,c.88C>T,p.R30C |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176525477C>G,c.19C>G,p.L7V |
| PAPOLG(NM_022894,poly(A) polymerase gamma,736aa) | g.2:61024227T>A,c.2143T>A,p.S715T |
| PAPOLG(NM_022894,poly(A) polymerase gamma,736aa) | g.2:61022147C>T,c.2104C>T,p.R702C |
| PAPOLG(NM_022894,poly(A) polymerase gamma,736aa) | g.2:61019417A>G,c.1672A>G,p.T558A |
| PAPOLB(NM_020144,poly(A) polymerase beta (testis specific),637aa) | g.7:4901407G>A,c.35C>T,p.P12L |
| PAPOLB(NM_020144,poly(A) polymerase beta (testis specific),637aa) | g.7:4901385A>C,c.57T>G,p.N19K |
| PAPOLB(NM_020144,poly(A) polymerase beta (testis specific),637aa) | g.7:4901191T>C,c.251A>G,p.K84R |
| PAPOLB(NM_020144,poly(A) polymerase beta (testis specific),637aa) | g.7:4900991C>G,c.451G>C,p.E151Q |
| PAPOLB(NM_020144,poly(A) polymerase beta (testis specific),637aa) | g.7:4900910T>C,c.532A>G,p.T178A |