| 基因名 | 突变 |
|---|---|
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119129992G>A,c.4564G>A,p.V1522M |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119124959C>T,c.4436C>T,p.S1479L |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119124899G>A,c.4376G>A,p.R1459Q |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119124875T>C,c.4352T>C,p.L1451P |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119115071C>G,c.4051C>G,p.P1351A |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119109468G>A,c.3944G>A,p.R1315H |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119106964C>T,c.3754C>T,p.R1252W |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119106881C>A,c.3671C>A,p.S1224Y |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119097230G>A,c.3488G>A,p.R1163H |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119097224C>T,c.3482C>T,p.A1161V |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119033669G>A,c.2927G>A,p.R976Q |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:119028233A>C,c.2830A>C,p.S944R |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118997909G>A,c.2725G>A,p.V909I |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118997832C>T,c.2648C>T,p.P883L |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118997720G>A,c.2536G>A,p.V846M |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118997619C>T,c.2435C>T,p.A812V |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118997457G>A,c.2273G>A,p.R758H |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118982354C>T,c.2057C>T,p.T686M |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118973984T>C,c.1691T>C,p.I564T |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118950339G>A,c.1322G>A,p.R441H |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118950110C>A,c.1093C>A,p.H365N |
| PAPPA(NM_002581,pregnancy-associated plasma protein A, pappalysin 1,1627aa) | g.9:118949480G>A,c.463G>A,p.V155M |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176760568C>G,c.4970C>G,p.P1657R |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176738840A>G,c.4421A>G,p.Y1474C |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176734945G>T,c.4295G>T,p.S1432I |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176709232G>A,c.4051G>A,p.G1351S |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176708831G>A,c.3868G>A,p.G1290R |
| PAPPA2(NM_020318,pappalysin 2,1791aa) | g.1:176679311T>C,c.3650T>C,p.L1217P |