| 基因名 | 突变 |
|---|---|
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7496436C>T,c.1394G>A,p.R465Q |
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7496382C>T,c.1448G>A,p.R483Q |
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7496367C>T,c.1463G>A,p.R488Q |
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7496152G>A,c.1589C>T,p.P530L |
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7495600G>A,c.1898C>T,p.P633L |
| FXR2(NM_004860,fragile X mental retardation, autosomal homolog 2,673aa) | g.17:7495219T>C,c.1951A>G,p.K651E |
| FXN(NM_181425,frataxin,196aa) | g.9:71661361A>G,c.226A>G,p.M76V |
| FXN(NM_181425,frataxin,196aa) | g.9:71661314G>A,c.179G>A,p.R60H |
| FXN(NM_181425,frataxin,196aa) | g.9:71661313C>T,c.178C>T,p.R60C |
| FXN(NM_181425,frataxin,196aa) | g.9:71661305C>T,c.170C>T,p.S57L |
| FXN(NM_181425,frataxin,196aa) | g.9:71650816C>T,c.118C>T,p.R40C |
| FUZ(NM_025129,fuzzy planar cell polarity protein,418aa) | g.19:50312801C>T,c.524G>A,p.G175D |
| FUZ(NM_025129,fuzzy planar cell polarity protein,418aa) | g.19:50311977A>T,c.890T>A,p.L297H |
| FUZ(NM_025129,fuzzy planar cell polarity protein,418aa) | g.19:50310605C>T,c.1060G>A,p.D354N |
| FUZ(NM_025129,fuzzy planar cell polarity protein,418aa) | g.19:50310530G>A,c.1135C>T,p.R379C |
| FUZ(NM_025129,fuzzy planar cell polarity protein,418aa) | g.19:50310466G>A,c.1199C>T,p.T400I |
| FUT9(NM_006581,fucosyltransferase 9 (alpha (1,3) fucosyltransferase),359aa) | g.6:96651740A>G,c.709A>G,p.T237A |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66209049C>T,c.1649C>T,p.T550M |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66188675C>G,c.1018C>G,p.P340A |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66136163C>A,c.800C>A,p.T267K |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66096286C>A,c.559C>A,p.L187M |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66082979A>G,c.370A>G,p.K124E |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66082793A>C,c.301A>C,p.K101Q |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66082745_66082746insT,c.253_254insT,p.85fs |
| FUT8(NM_178155,fucosyltransferase 8 (alpha (1,6) fucosyltransferase),575aa) | g.14:66082714T>G,c.222T>G,p.I74M |
| FUT7(NM_004479,fucosyltransferase 7 (alpha (1,3) fucosyltransferase),342aa) | g.9:139925983G>A,c.208C>T,p.R70C |
| FUT7(NM_004479,fucosyltransferase 7 (alpha (1,3) fucosyltransferase),342aa) | g.9:139925982C>T,c.209G>A,p.R70H |
| FUT7(NM_004479,fucosyltransferase 7 (alpha (1,3) fucosyltransferase),342aa) | g.9:139925841A>G,c.350T>C,p.V117A |