| 基因名 | 突变 |
|---|---|
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39202749G>A,c.314C>T,p.A105V |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39202689G>T,c.374C>A,p.S125Y |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39202653G>A,c.410C>T,p.P137L |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39202357C>T,c.706G>A,p.G236S |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39202081G>T,c.982C>A,p.Q328K |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39202068T>C,c.995A>G,p.K332R |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39153562G>A,c.1280C>T,p.P427L |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39127844C>A,c.1906G>T,p.G636C |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39126205G>A,c.1940C>T,p.T647M |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39126145C>T,c.2000G>A,p.R667Q |
| FYB(NM_001465,FYN binding protein,829aa) | g.5:39119723C>A,c.2152G>T,p.V718F |
| FXYD7(NM_022006,FXYD domain containing ion transport regulator 7,80aa) | g.19:35642367C>T,c.161C>T,p.A54V |
| FXYD6(NM_001164836,FXYD domain containing ion transport regulator 6,95aa) | g.11:117711076C>G,c.217G>C,p.G73R |
| FXYD6(NM_001164836,FXYD domain containing ion transport regulator 6,95aa) | g.11:117711040C>T,c.253G>A,p.A85T |
| FXYD6-FXYD2(NM_001204268,FXYD6-FXYD2 readthrough,144aa) | g.11:117693184C>T,c.310G>A,p.V104I |
| FXYD6-FXYD2(NM_001204268,FXYD6-FXYD2 readthrough,144aa) | g.11:117691607C>T,c.377G>A,p.R126K |
| FXYD6-FXYD2(NM_001204268,FXYD6-FXYD2 readthrough,144aa) | g.11:117691599G>A,c.385C>T,p.R129C |
| FXYD5(NM_144779,FXYD domain containing ion transport regulator 5,178aa) | g.19:35660508G>A,c.527G>A,p.R176H |
| FXYD5(NM_144779,FXYD domain containing ion transport regulator 5,178aa) | g.19:35657189G>A,c.448G>A,p.A150T |
| FXYD5(NM_144779,FXYD domain containing ion transport regulator 5,178aa) | g.19:35651654C>T,c.242C>T,p.T81M |
| FXYD5(NM_144779,FXYD domain containing ion transport regulator 5,178aa) | g.19:35648396G>A,c.134G>A,p.R45Q |
| FXYD5(NM_144779,FXYD domain containing ion transport regulator 5,178aa) | g.19:35648365T>G,c.103T>G,p.S35A |
| FXYD4(NM_173160,FXYD domain containing ion transport regulator 4,89aa) | g.10:43871158G>A,c.188G>A,p.C63Y |
| FXYD3(NM_001136007,FXYD domain containing ion transport regulator 3,144aa) | g.19:35613689G>A,c.289G>A,p.G97S |
| FXYD3(NM_001136007,FXYD domain containing ion transport regulator 3,144aa) | g.19:35612132A>G,c.251A>G,p.N84S |
| FXYD3(NM_001136007,FXYD domain containing ion transport regulator 3,144aa) | g.19:35610288A>G,c.179A>G,p.K60R |
| FXYD1(NM_001278717,FXYD domain containing ion transport regulator 1,92aa) | g.19:35633635C>T,c.268C>T,p.R90C |
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7517831C>G,c.20G>C,p.G7A |