| 基因名 | 突变 |
|---|---|
| IQSEC3(NM_001170738,IQ motif and Sec7 domain 3,1182aa) | g.12:176089A>G,c.41A>G,p.Y14C |
| IQSEC2(NM_001111125,IQ motif and Sec7 domain 2,1488aa) | g.X:53280166C>G,c.1592G>C,p.R531P |
| IQSEC2(NM_001111125,IQ motif and Sec7 domain 2,1488aa) | g.X:53263460C>T,c.4408G>A,p.A1470T |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12983283C>T,c.106G>A,p.G36S |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12983234T>C,c.155A>G,p.Y52C |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12977903C>T,c.613G>A,p.E205K |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12977752G>A,c.764C>T,p.P255L |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12977696T>C,c.820A>G,p.M274V |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12977230C>T,c.1286G>A,p.R429K |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12977188C>T,c.1328G>A,p.R443Q |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12976987C>T,c.1529G>A,p.R510H |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12966207C>T,c.1604G>A,p.R535H |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12962074G>A,c.1876C>T,p.P626S |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12957207G>A,c.2047C>T,p.R683C |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12957173C>A,c.2081G>T,p.R694L |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12957167C>T,c.2087G>A,p.R696Q |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12953129A>G,c.2416T>C,p.Y806H |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12950812T>C,c.2539A>G,p.I847V |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12950002C>T,c.2602G>A,p.V868I |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12943013T>G,c.2815A>C,p.I939L |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12942878C>T,c.2950G>A,p.A984T |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12942851del,c.2977-1del,p.993Acceptordel |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12942760C>G,c.3067G>C,p.A1023P |
| IQSEC1(NM_001134382,IQ motif and Sec7 domain 1,1114aa) | g.3:12942758_12942760del,c.3067_3069del,p.1023del |
| IQGAP3(NM_178229,IQ motif containing GTPase activating protein 3,1631aa) | g.1:156542294A>G,c.28T>C,p.W10R |
| IQGAP3(NM_178229,IQ motif containing GTPase activating protein 3,1631aa) | g.1:156539250G>A,c.43C>T,p.R15C |
| IQGAP3(NM_178229,IQ motif containing GTPase activating protein 3,1631aa) | g.1:156533080T>C,c.644A>G,p.N215S |
| IQGAP3(NM_178229,IQ motif containing GTPase activating protein 3,1631aa) | g.1:156532436T>C,c.820A>G,p.I274V |