| 基因名 | 突变 |
|---|---|
| KIF1C(NM_006612,kinesin family member 1C,1103aa) | g.17:4908160C>T,c.1030C>T,p.R344C |
| KIF1C(NM_006612,kinesin family member 1C,1103aa) | g.17:4907294A>C,c.866A>C,p.Q289P |
| KIF1C(NM_006612,kinesin family member 1C,1103aa) | g.17:4905828C>T,c.499C>T,p.R167W |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10435347G>A,c.5186G>A,p.R1729H |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10434447G>A,c.4882G>A,p.E1628K |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10428570G>A,c.4660G>A,p.V1554M |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10425623G>A,c.4531G>A,p.A1511T |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10406001C>T,c.3649C>T,p.P1217S |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10397567A>G,c.3260A>G,p.Y1087C |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10394666T>G,c.2875T>G,p.F959V |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10384896C>T,c.2480C>T,p.T827I |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10381887A>G,c.2192A>G,p.N731S |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10352175del,c.1447del,p.483fs |
| KIF1B(NM_015074,kinesin family member 1B,1770aa) | g.1:10342521C>T,c.1226C>T,p.T409M |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241728699G>A,c.137C>T,p.T46M |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241696843_241696845del,c.2749_2751del,p.917del |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241696841_241696843del,c.2751_2753del,p.917_918del |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241696840A>C,c.2754T>G,p.D918E |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241685282C>T,c.3247G>A,p.A1083T |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241685270G>A,c.3259C>T,p.P1087S |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241680755G>A,c.3680C>T,p.P1227L |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241680732C>T,c.3703G>A,p.D1235N |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241679505G>A,c.3871C>T,p.R1291C |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241661934G>A,c.4604C>T,p.A1535V |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241660421G>A,c.4778C>T,p.P1593L |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241660418G>A,c.4781C>T,p.S1594L |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241660409G>A,c.4790C>T,p.P1597L |
| KIF1A(NM_001244008,kinesin family member 1A,1791aa) | g.2:241659324G>A,c.4888C>T,p.R1630W |