| 基因名 | 突变 |
|---|---|
| PAXBP1(NM_016631,PAX3 and PAX7 binding protein 1,917aa) | g.21:34133456C>T,c.889G>A,p.D297N |
| PAX9(NM_006194,paired box 9,341aa) | g.14:37135753G>C,c.718G>C,p.A240P |
| PAX9(NM_006194,paired box 9,341aa) | g.14:37135732T>C,c.697T>C,p.F233L |
| PAX9(NM_006194,paired box 9,341aa) | g.14:37135714A>C,c.679A>C,p.S227R |
| PAX9(NM_006194,paired box 9,341aa) | g.14:37135675A>G,c.640A>G,p.S214G |
| PAX8(NM_003466,paired box 8,450aa) | g.2:114000341T>C,c.404A>G,p.K135R |
| PAX8(NM_003466,paired box 8,450aa) | g.2:114000303C>T,c.442G>A,p.V148M |
| PAX8(NM_003466,paired box 8,450aa) | g.2:113999253C>T,c.652G>A,p.G218R |
| PAX8(NM_003466,paired box 8,450aa) | g.2:113994297del,c.779del,p.260fs |
| PAX8(NM_003466,paired box 8,450aa) | g.2:113993073A>G,c.985T>C,p.F329L |
| PAX8(NM_003466,paired box 8,450aa) | g.2:113984805G>A,c.1116C>T,p.P372P |
| PAX7(NM_001135254,paired box 7,505aa) | g.1:19071356G>A,c.1451G>A,p.R484H |
| PAX7(NM_001135254,paired box 7,505aa) | g.1:19062357G>A,c.1387G>A,p.G463S |
| PAX7(NM_001135254,paired box 7,505aa) | g.1:19062163C>T,c.1193C>T,p.P398L |
| PAX7(NM_001135254,paired box 7,505aa) | g.1:18961618C>T,c.335C>T,p.P112L |
| PAX7(NM_001135254,paired box 7,505aa) | g.1:18960857G>A,c.146G>A,p.R49Q |
| PAX7(NM_001135254,paired box 7,505aa) | g.1:18960806C>T,c.95C>T,p.P32L |
| PAX6(NM_000280,paired box 6,422aa) | g.11:31812317G>T,c.1124C>A,p.P375Q |
| PAX5(NM_016734,paired box 5,391aa) | g.9:37034023A>T,c.6T>A,p.D2E |
| PAX5(NM_016734,paired box 5,391aa) | g.9:36966688G>A,c.638C>T,p.S213L |
| PAX5(NM_016734,paired box 5,391aa) | g.9:36882049C>T,c.964G>A,p.A322T |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127255483C>T,c.92G>A,p.R31Q |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127255466G>A,c.109C>T,p.R37W |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127254981G>A,c.289C>T,p.R97C |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127254938G>A,c.332C>T,p.P111L |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127253858G>A,c.490C>T,p.R164W |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127253578G>A,c.547C>T,p.R183C |
| PAX4(NM_006193,paired box 4,343aa) | g.7:127253551G>T,c.574C>A,p.R192S |