| 基因名 | 突变 |
|---|---|
| KIAA0226L(NM_025113,KIAA0226-like,662aa) | g.13:46935652C>T,c.1043G>A,p.R348H |
| KIAA0226L(NM_025113,KIAA0226-like,662aa) | g.13:46933745G>A,c.1141C>T,p.R381X |
| KIAA0226L(NM_025113,KIAA0226-like,662aa) | g.13:46924321T>C,c.1496A>G,p.H499R |
| KIAA0226L(NM_025113,KIAA0226-like,662aa) | g.13:46924292C>T,c.1525G>A,p.G509S |
| KIAA0226L(NM_025113,KIAA0226-like,662aa) | g.13:46918923G>A,c.1829C>T,p.T610M |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126091074T>C,c.617A>G,p.N206S |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126091044G>A,c.647C>T,p.P216L |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126071756T>C,c.1550A>G,p.N517S |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126056870G>A,c.2575C>T,p.R859C |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126056148T>G,c.2771-2A>C,p.924Acceptor |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126051200del,c.2956del,p.986fs |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126044499C>T,c.3319G>A,p.V1107M |
| KIAA0196(NM_014846,KIAA0196,1159aa) | g.8:126040870G>T,c.3415C>A,p.P1139T |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73495111_73495112insC,c.3946_3947insC,p.1316fs |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73494593C>T,c.3707C>T,p.T1236M |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73494578C>T,c.3692C>T,p.S1231L |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73494528C>G,c.3642C>G,p.N1214K |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73494400C>T,c.3634C>T,p.P1212S |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73494391G>T,c.3625G>T,p.V1209F |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73494367C>T,c.3601C>T,p.R1201C |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73492512G>A,c.3203G>A,p.R1068H |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73491085G>A,c.2698G>A,p.A900T |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73489970G>A,c.2380G>A,p.A794T |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73488819G>A,c.1861G>A,p.V621M |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73488816G>A,c.1858G>A,p.A620T |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73488576G>A,c.1618G>A,p.D540N |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73487830A>G,c.1445A>G,p.N482S |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73485415C>T,c.833C>T,p.S278L |