| 基因名 | 突变 |
|---|---|
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39379431G>T,c.702G>T,p.Q234H |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39379325C>T,c.596C>T,p.P199L |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39243906C>A,c.263C>A,p.P88Q |
| POU6F2(NM_007252,POU class 6 homeobox 2,691aa) | g.7:39125515T>A,c.74T>A,p.M25K |
| POU6F1(NM_002702,POU class 6 homeobox 1,301aa) | g.12:51590593C>T,c.34G>A,p.A12T |
| POU6F1(NM_002702,POU class 6 homeobox 1,301aa) | g.12:51584206G>C,c.730C>G,p.Q244E |
| POU5F2(NM_153216,POU domain class 5, transcription factor 2,328aa) | g.5:93077142C>T,c.128G>A,p.R43K |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428823G>C,c.712G>C,p.E238Q |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428751A>G,c.640A>G,p.N214D |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428656A>C,c.545A>C,p.K182T |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428638G>A,c.527G>A,p.G176E |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428581G>T,c.470G>T,p.R157M |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428460G>A,c.349G>A,p.V117I |
| POU5F1B(NM_001159542,POU class 5 homeobox 1B,359aa) | g.8:128428274T>G,c.163T>G,p.S55A |
| POU4F3(NM_002700,POU class 4 homeobox 3,338aa) | g.5:145719801G>C,c.811G>C,p.G271R |
| POU4F3(NM_002700,POU class 4 homeobox 3,338aa) | g.5:145719539C>A,c.549C>A,p.D183E |
| POU4F3(NM_002700,POU class 4 homeobox 3,338aa) | g.5:145719271C>T,c.281C>T,p.T94I |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147561856G>A,c.1126G>A,p.A376T |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147561757G>A,c.1027G>A,p.A343T |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147561447C>A,c.717C>A,p.H239Q |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147561148G>A,c.418G>A,p.A140T |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147561147C>A,c.417C>A,p.D139E |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147560458_147560466del,c.166_174del,p.56_58del |
| POU4F2(NM_004575,POU class 4 homeobox 2,409aa) | g.4:147560411T>C,c.119T>C,p.I40T |
| POU4F1(NM_006237,POU class 4 homeobox 1,419aa) | g.13:79176674G>A,c.136C>T,p.L46F |
| POU4F1(NM_006237,POU class 4 homeobox 1,419aa) | g.13:79176527T>C,c.283A>G,p.T95A |
| POU4F1(NM_006237,POU class 4 homeobox 1,419aa) | g.13:79176484_79176486del,c.324_326del,p.108_109del |
| POU4F1(NM_006237,POU class 4 homeobox 1,419aa) | g.13:79176269C>T,c.541G>A,p.G181R |