| 基因名 | 突变 |
|---|---|
| POU3F4(NM_000307,POU class 3 homeobox 4,361aa) | g.X:82764042G>C,c.710G>C,p.G237A |
| POU3F2(NM_005604,POU class 3 homeobox 2,443aa) | g.6:99282759G>A,c.10G>A,p.A4T |
| POU3F1(NM_002699,POU class 3 homeobox 1,451aa) | g.1:38511152C>T,c.1264G>A,p.G422S |
| POU2F3(NM_014352,POU class 2 homeobox 3,436aa) | g.11:120187971G>A,c.1169G>A,p.R390K |
| POU2F3(NM_014352,POU class 2 homeobox 3,436aa) | g.11:120180183C>T,c.956C>T,p.S319F |
| POU2F3(NM_014352,POU class 2 homeobox 3,436aa) | g.11:120175749A>G,c.455A>G,p.H152R |
| POU2F3(NM_014352,POU class 2 homeobox 3,436aa) | g.11:120175740C>T,c.446C>T,p.A149V |
| POU2F3(NM_014352,POU class 2 homeobox 3,436aa) | g.11:120173036G>A,c.403G>A,p.G135S |
| POU2F3(NM_014352,POU class 2 homeobox 3,436aa) | g.11:120173035C>A,c.402C>A,p.S134R |
| POU2F2(NM_001207025,POU class 2 homeobox 2,479aa) | g.19:42626295T>C,c.169A>G,p.T57A |
| POU2F1(NM_001198783,POU class 2 homeobox 1,755aa) | g.1:167384979T>C,c.2200T>C,p.S734P |
| POU2F1(NM_001198783,POU class 2 homeobox 1,755aa) | g.1:167384803A>G,c.2024A>G,p.N675S |
| POU2F1(NM_001198783,POU class 2 homeobox 1,755aa) | g.1:167358837A>G,c.793A>G,p.T265A |
| POU2AF1(NM_006235,POU class 2 associating factor 1,256aa) | g.11:111225078C>T,c.679G>A,p.A227T |
| POU1F1(NM_001122757,POU class 1 homeobox 1,317aa) | g.3:87325557G>A,c.56C>T,p.A19V |
| POU1F1(NM_001122757,POU class 1 homeobox 1,317aa) | g.3:87322616G>A,c.173C>T,p.P58L |
| POU1F1(NM_001122757,POU class 1 homeobox 1,317aa) | g.3:87313653G>T,c.302C>A,p.T101N |
| POU1F1(NM_001122757,POU class 1 homeobox 1,317aa) | g.3:87313540G>A,c.415C>T,p.R139W |
| POTEM(NM_001145442,POTE ankyrin domain family, member M,508aa) | g.14:20019778C>G,c.443G>C,p.W148S |
| POTEM(NM_001145442,POTE ankyrin domain family, member M,508aa) | g.14:20002224C>T,c.1197+1G>A,p.399Donor |
| POTEM(NM_001145442,POTE ankyrin domain family, member M,508aa) | g.14:19999393G>C,c.1301C>G,p.P434R |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131415082T>C,c.2749T>C,p.W917R |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414951G>A,c.2618G>A,p.R873H |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414947G>A,c.2614G>A,p.V872M |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414410G>C,c.2077G>C,p.V693L |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414404C>T,c.2071C>T,p.R691W |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414380G>A,c.2047G>A,p.G683S |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414354A>T,c.2021A>T,p.D674V |