| 基因名 | 突变 |
|---|---|
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109704618A>G,c.256A>G,p.I86V |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109704573G>A,c.211G>A,p.A71T |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109704525C>T,c.163C>T,p.H55Y |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109656870T>A,c.65T>A,p.I22K |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86567483C>T,c.1048G>A,p.D350N |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86548611C>T,c.1415G>A,p.G472E |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86548545G>A,c.1481C>T,p.P494L |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86547834G>A,c.1517C>T,p.T506M |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86544104T>C,c.1666A>G,p.I556V |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86539229A>G,c.2258T>C,p.V753A |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86537764T>C,c.2455A>G,p.K819E |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86526916G>A,c.2591C>T,p.T864M |
| KIAA1324L(NM_001142749,KIAA1324-like,1029aa) | g.7:86521173G>A,c.2897C>T,p.T966M |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70775652G>A,c.1346G>A,p.R449H |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70775408G>A,c.1102G>A,p.G368S |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70768681A>G,c.874A>G,p.T292A |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70760271T>C,c.518T>C,p.M173T |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70748790G>C,c.202G>C,p.G68R |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70748784G>A,c.196G>A,p.G66S |
| KIAA1279(NM_015634,KIAA1279,621aa) | g.10:70748656A>G,c.68A>G,p.E23G |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128712083G>C,c.65C>G,p.T22S |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128711925A>G,c.223T>C,p.C75R |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128707606T>C,c.418A>G,p.M140V |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128707600C>A,c.424G>T,p.A142S |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128695838C>T,c.880G>A,p.D294N |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128695837T>C,c.881A>G,p.D294G |
| KIAA1257(NM_020741,KIAA1257,409aa) | g.3:128695828G>A,c.890C>T,p.T297M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138656075A>G,c.6092A>G,p.K2031R |