| 基因名 | 突变 |
|---|---|
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154125236T>C,c.316A>G,p.S106G |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154113925T>C,c.548A>G,p.E183G |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154099857T>C,c.1115A>G,p.E372G |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154091208G>A,c.1403C>T,p.T468I |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154076686T>C,c.1621A>G,p.I541V |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154072601G>A,c.1838C>T,p.P613L |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154067577A>G,c.2021T>C,p.V674A |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154033423C>G,c.2743G>C,p.V915L |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154033039T>C,c.2827A>G,p.M943V |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154026847C>T,c.3340G>A,p.V1114I |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154018655C>T,c.3586G>A,p.V1196I |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154018621T>C,c.3620A>G,p.N1207S |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154002374G>C,c.3853C>G,p.L1285V |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153998128C>T,c.4012G>A,p.E1338K |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153994647C>T,c.4471G>A,p.V1491I |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153991464G>A,c.4598C>T,p.P1533L |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153974353C>T,c.5039G>A,p.R1680H |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153967639C>T,c.5404G>A,p.A1802T |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153967585C>T,c.5458G>A,p.A1820T |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153967569G>A,c.5474C>T,p.T1825I |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:153965345C>T,c.5633G>A,p.R1878Q |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135327969C>T,c.5422C>T,p.R1808C |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135323351G>T,c.5312G>T,p.S1771I |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135312794G>T,c.4867G>T,p.A1623S |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135312726T>A,c.4799T>A,p.F1600Y |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135304273G>C,c.4066G>C,p.E1356Q |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135301979C>T,c.3674C>T,p.T1225I |
| NUP205(NM_015135,nucleoporin 205kDa,2012aa) | g.7:135301970G>A,c.3665G>A,p.R1222Q |