| 基因名 | 突变 |
|---|---|
| IQUB(NM_178827,IQ motif and ubiquitin domain containing,791aa) | g.7:123097569G>C,c.2059C>G,p.L687V |
| IQUB(NM_178827,IQ motif and ubiquitin domain containing,791aa) | g.7:123097557C>T,c.2071G>A,p.D691N |
| IQUB(NM_178827,IQ motif and ubiquitin domain containing,791aa) | g.7:123092969C>G,c.2204G>C,p.R735P |
| IQUB(NM_178827,IQ motif and ubiquitin domain containing,791aa) | g.7:123092923G>T,c.2250C>A,p.N750K |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:284196G>A,c.3546G>A,p.V1182V |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:284021C>T,c.3371C>T,p.S1124L |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:283933C>G,c.3283C>G,p.Q1095E |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:280292G>A,c.3079G>A,p.A1027T |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:272669G>A,c.2593G>A,p.V865M |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:271113_271114insC,c.2465_2466insC,p.822fs |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:271106G>A,c.2458G>A,p.A820T |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:266265G>A,c.2228G>A,p.R743H |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:250438C>T,c.2140C>T,p.R714C |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:250396A>T,c.2098A>T,p.M700L |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:248202C>G,c.1673C>G,p.A558G |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:248071G>C,c.1542G>C,p.Q514H |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:247923A>G,c.1394A>G,p.D465G |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:247910C>T,c.1381C>T,p.P461S |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:247674T>C,c.1145T>C,p.V382A |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:235022C>T,c.847C>T,p.P283S |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:235011C>T,c.836C>T,p.T279M |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:234986G>A,c.811G>A,p.G271S |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:234962G>A,c.787G>A,p.G263S |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:234933C>T,c.758C>T,p.P253L |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:234929C>T,c.754C>T,p.R252W |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:234858C>T,c.683C>T,p.A228V |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:234855C>T,c.680C>T,p.A227V |
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:176139A>T,c.91A>T,p.T31S |