| 基因名 | 突变 |
|---|---|
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26303173C>T,c.758G>A,p.R253Q |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26301114C>T,c.786G>A,p.M262I |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26301080G>A,c.820C>T,p.R274X |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26299105T>C,c.1028A>G,p.Y343C |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26299049C>T,c.1084G>A,p.D362N |
| PAFAH1B3(NM_001145939,platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa),231aa) | g.19:42804211C>T,c.319G>A,p.G107R |
| PAFAH1B1(NM_000430,platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa),410aa) | g.17:2583500del,c.1045del,p.349fs |
| PAFAH1B1(NM_000430,platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa),410aa) | g.17:2583499_2583500insG,c.1044_1045insG,p.348fs |
| PAFAH1B1(NM_000430,platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa),410aa) | g.17:2569347del,c.155del,p.52fs |
| PAF1(NM_019088,Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae),531aa) | g.19:39879096T>C,c.869A>G,p.K290R |
| PAF1(NM_019088,Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae),531aa) | g.19:39876969G>A,c.1258C>T,p.R420W |
| PAF1(NM_019088,Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae),531aa) | g.19:39876959C>T,c.1268G>A,p.G423D |
| PAF1(NM_019088,Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae),531aa) | g.19:39876945C>T,c.1282G>A,p.A428T |
| PAF1(NM_019088,Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae),531aa) | g.19:39876735G>A,c.1492C>T,p.R498C |
| PAEP(NM_001018049,progestagen-associated endometrial protein,180aa) | g.9:138457640G>A,c.536G>A,p.R179H |
| PAEP(NM_001018049,progestagen-associated endometrial protein,180aa) | g.9:138457286T>C,c.452T>C,p.M151T |
| PAEP(NM_001018049,progestagen-associated endometrial protein,180aa) | g.9:138456155C>A,c.376C>A,p.Q126K |
| PAEP(NM_001018049,progestagen-associated endometrial protein,180aa) | g.9:138454266G>A,c.223G>A,p.V75I |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17727860G>A,c.2011G>A,p.V671I |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17718675T>G,c.1028T>G,p.V343G |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17718674G>T,c.1027G>T,p.V343L |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17718672del,c.1025+1del,p.342Donordel |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17715335A>G,c.922A>G,p.I308V |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17714971G>A,c.775G>A,p.V259I |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17708528G>A,c.620G>A,p.R207Q |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17708468C>T,c.560C>T,p.T187M |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17699720G>A,c.286G>A,p.A96T |
| PADI6(NM_207421,peptidyl arginine deiminase, type VI,694aa) | g.1:17699714G>T,c.280G>T,p.V94L |