| 基因名 | 突变 |
|---|---|
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239033974C>T,c.1051C>T,p.R351C |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239016507G>A,c.748G>A,p.G250S |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239013472G>A,c.661G>A,p.V221I |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239013346T>C,c.535T>C,p.C179R |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239013338A>C,c.527A>C,p.Y176S |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239013311G>A,c.500G>A,p.R167Q |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239010723G>A,c.436G>A,p.V146I |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239010679C>T,c.392C>T,p.T131M |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239010600G>A,c.313G>A,p.V105I |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239009332G>A,c.272G>A,p.R91H |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239009118C>T,c.58C>T,p.R20W |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239009082G>A,c.22G>A,p.V8M |
| ESPNL(NM_194312,espin-like,1005aa) | g.2:239009074G>A,c.14G>A,p.R5Q |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53687113C>T,c.6218C>T,p.T2073M |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53686703G>A,c.6110G>A,p.R2037H |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53682457G>A,c.4682G>A,p.R1561Q |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53682043C>G,c.4464C>G,p.I1488M |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53682014A>G,c.4435A>G,p.R1479G |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53681984C>T,c.4405C>T,p.R1469W |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53681945C>T,c.4366C>T,p.R1456W |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53681883A>T,c.4304A>T,p.K1435M |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53680505C>A,c.3985C>A,p.R1329S |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53680011T>G,c.3491T>G,p.V1164G |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53679989A>G,c.3469A>G,p.T1157A |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53679926A>G,c.3406A>G,p.I1136V |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53679752C>A,c.3232C>A,p.H1078N |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53677203G>C,c.2958G>C,p.E986D |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53671264G>A,c.2096G>A,p.R699Q |