| 基因名 | 突变 |
|---|---|
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132240080T>C,c.1067A>G,p.N356S |
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132234818T>C,c.1204A>G,p.M402V |
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132232487T>C,c.1835A>G,p.N612S |
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132228023G>A,c.2470C>T,p.P824S |
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132228002G>A,c.2491C>T,p.R831W |
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132227893G>T,c.2600C>A,p.T867N |
| AFF4(NM_014423,AF4/FMR2 family, member 4,1163aa) | g.5:132224834G>A,c.2669C>T,p.P890L |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100623366C>G,c.601G>C,p.A201P |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100623192C>T,c.775G>A,p.V259M |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100623185C>T,c.782G>A,p.C261Y |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100453973C>T,c.887G>A,p.G296E |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100343557C>T,c.1073G>A,p.S358N |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100217989C>T,c.1279G>A,p.D427N |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100217914G>C,c.1354C>G,p.H452D |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100210751C>T,c.1372G>A,p.A458T |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100210642T>C,c.1481A>G,p.N494S |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100210342G>C,c.1781C>G,p.T594S |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100210061A>G,c.2062T>C,p.Y688H |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100209989C>T,c.2134G>A,p.A712T |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100199386G>T,c.2667C>A,p.H889Q |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100199339T>C,c.2714A>G,p.N905S |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100199279G>C,c.2774C>G,p.P925R |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100194825C>T,c.2882G>A,p.R961K |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100185372C>T,c.2924G>A,p.R975H |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100171178G>A,c.3302C>T,p.A1101V |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100170944C>T,c.3388G>A,p.V1130M |
| AFF3(NM_002285,AF4/FMR2 family, member 3,1226aa) | g.2:100167950C>T,c.3667G>A,p.A1223T |
| AFF2(NM_002025,AF4/FMR2 family, member 2,1311aa) | g.X:148039954C>G,c.2656C>G,p.P886A |