| 基因名 | 突变 |
|---|---|
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812712C>T,c.251G>A,p.R84Q |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812691T>C,c.272A>G,p.Y91C |
| IQCF5(NM_001145059,IQ motif containing F5,148aa) | g.3:51908182T>C,c.14A>G,p.E5G |
| IQCF5(NM_001145059,IQ motif containing F5,148aa) | g.3:51907870C>T,c.326G>A,p.R109H |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51864681G>A,c.329G>A,p.R110H |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51864611G>A,c.259G>A,p.V87I |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51864588G>A,c.236G>A,p.R79Q |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51864587C>T,c.235C>T,p.R79W |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51864558C>T,c.206C>T,p.T69M |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51864486G>A,c.134G>A,p.R45H |
| IQCF3(NM_001085479,IQ motif containing F3,154aa) | g.3:51863712G>T,c.50G>T,p.R17I |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51897361T>C,c.470T>C,p.F157S |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51897130C>T,c.239C>T,p.T80M |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51897124G>A,c.233G>A,p.R78Q |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51897070G>T,c.179G>T,p.R60L |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51897069C>T,c.178C>T,p.R60C |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51897033G>C,c.142G>C,p.V48L |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51895693G>A,c.11G>A,p.R4Q |
| IQCF2(NM_203424,IQ motif containing F2,164aa) | g.3:51895692C>T,c.10C>T,p.R4X |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51937083G>A,c.26C>T,p.T9M |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51930850T>C,c.169A>G,p.K57E |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51929285C>T,c.239G>A,p.R80Q |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51929270C>T,c.254G>A,p.R85H |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51929183C>T,c.341G>A,p.R114Q |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51929096C>T,c.428G>A,p.R143H |
| IQCF1(NM_152397,IQ motif containing F1,205aa) | g.3:51928928A>G,c.596T>C,p.I199T |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2649777C>T,c.2069C>T,p.T690M |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2649765C>T,c.2057C>T,p.P686L |