| 基因名 | 突变 |
|---|---|
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58678032C>T,c.257C>T,p.P86L |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58677906C>G,c.131C>G,p.S44W |
| PPM1B(NM_177968,protein phosphatase, Mg2+/Mn2+ dependent, 1B,387aa) | g.2:44436458G>A,c.956G>A,p.R319Q |
| PPM1B(NM_177968,protein phosphatase, Mg2+/Mn2+ dependent, 1B,387aa) | g.2:44429084T>C,c.746T>C,p.M249T |
| PPM1A(NM_021003,protein phosphatase, Mg2+/Mn2+ dependent, 1A,382aa) | g.14:60752400C>T,c.893C>T,p.S298L |
| PPL(NM_002705,periplakin,1756aa) | g.16:4986988C>T,c.59G>A,p.R20Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4954032G>A,c.172C>T,p.R58W |
| PPL(NM_002705,periplakin,1756aa) | g.16:4953944G>A,c.260C>T,p.A87V |
| PPL(NM_002705,periplakin,1756aa) | g.16:4952490C>T,c.355G>A,p.G119R |
| PPL(NM_002705,periplakin,1756aa) | g.16:4952487T>G,c.358A>C,p.K120Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4951015G>A,c.514C>T,p.H172Y |
| PPL(NM_002705,periplakin,1756aa) | g.16:4949345T>A,c.647A>T,p.Q216L |
| PPL(NM_002705,periplakin,1756aa) | g.16:4949261C>T,c.731G>A,p.R244H |
| PPL(NM_002705,periplakin,1756aa) | g.16:4949240C>T,c.752G>A,p.R251H |
| PPL(NM_002705,periplakin,1756aa) | g.16:4949234C>T,c.758G>A,p.R253H |
| PPL(NM_002705,periplakin,1756aa) | g.16:4949045G>A,c.845C>T,p.A282V |
| PPL(NM_002705,periplakin,1756aa) | g.16:4945711C>T,c.979G>A,p.E327K |
| PPL(NM_002705,periplakin,1756aa) | g.16:4945687G>T,c.1003C>A,p.L335M |
| PPL(NM_002705,periplakin,1756aa) | g.16:4945405G>C,c.1099C>G,p.Q367E |
| PPL(NM_002705,periplakin,1756aa) | g.16:4944581C>G,c.1281G>C,p.K427N |
| PPL(NM_002705,periplakin,1756aa) | g.16:4943614G>C,c.1420C>G,p.R474G |
| PPL(NM_002705,periplakin,1756aa) | g.16:4943590G>A,c.1444C>T,p.R482C |
| PPL(NM_002705,periplakin,1756aa) | g.16:4943315C>T,c.1549G>A,p.D517N |
| PPL(NM_002705,periplakin,1756aa) | g.16:4942126C>G,c.1739G>C,p.S580T |
| PPL(NM_002705,periplakin,1756aa) | g.16:4942105C>G,c.1760G>C,p.R587T |
| PPL(NM_002705,periplakin,1756aa) | g.16:4942099C>T,c.1766G>A,p.R589Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4942081C>T,c.1784G>A,p.R595Q |
| PPL(NM_002705,periplakin,1756aa) | g.16:4940837G>C,c.2054C>G,p.T685R |