| 基因名 | 突变 |
|---|---|
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90190186G>A,c.1663C>T,p.P555S |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90189161C>T,c.1885G>A,p.E629K |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90189151G>A,c.1895C>T,p.P632L |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90188375C>T,c.2060G>A,p.R687Q |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90188350_90188351insG,c.2084_2085insC,p.695fs |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90188249C>T,c.2186G>A,p.R729H |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90185529G>A,c.2299C>T,p.R767W |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90177068G>A,c.2441C>T,p.S814L |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90177050C>T,c.2459G>A,p.R820Q |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90177033G>A,c.2476C>T,p.R826W |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90177032C>T,c.2477G>A,p.R826Q |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90177008T>C,c.2501A>G,p.Q834R |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90176972G>A,c.2537C>T,p.T846M |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90176958G>A,c.2551C>T,p.R851C |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90176934G>A,c.2575C>T,p.R859W |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90176437C>T,c.2653G>A,p.A885T |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90176131G>A,c.2815C>T,p.R939W |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90176073C>A,c.2873G>T,p.S958I |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90174827G>A,c.3010C>T,p.R1004C |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90174824C>T,c.3013G>A,p.G1005R |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90173634G>A,c.3202C>T,p.R1068W |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90173616C>A,c.3220G>T,p.A1074S |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90172778G>C,c.3345C>G,p.H1115Q |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90172234C>T,c.3637G>A,p.G1213S |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90171943C>T,c.3739G>A,p.E1247K |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90171738G>A,c.3944C>T,p.P1315L |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90171718A>G,c.3964T>C,p.S1322P |
| KIF7(NM_198525,kinesin family member 7,1343aa) | g.15:90171708C>T,c.3974G>A,p.R1325Q |