| 基因名 | 突变 |
|---|---|
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110304142G>A,c.71C>T,p.P24L |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110302450C>T,c.105G>A,p.M35I |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110302392A>T,c.163T>A,p.F55I |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110301709C>T,c.436G>A,p.A146T |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110301260C>T,c.490G>A,p.G164S |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110301254C>T,c.496G>A,p.D166N |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110301225C>A,c.525G>T,p.R175S |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110300441G>A,c.880C>T,p.H294Y |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110299757C>T,c.1003G>A,p.A335T |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110299691G>A,c.1069C>T,p.P357S |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110299677G>T,c.1083C>A,p.N361K |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110294813C>T,c.1241G>A,p.R414Q |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110294355C>T,c.1487G>A,p.R496Q |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110293943C>T,c.1597G>A,p.E533K |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110293388G>A,c.1667C>T,p.T556M |
| EPS8L3(NM_139053,EPS8-like 3,594aa) | g.1:110293310C>T,c.1745G>A,p.R582Q |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:726965G>T,c.2132G>T,p.R711M |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:725824G>A,c.1657G>A,p.D553N |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:725751G>C,c.1584G>C,p.W528C |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:723311C>T,c.1412C>T,p.P471L |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:722543G>A,c.1202G>A,p.R401Q |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:722482C>T,c.1141C>T,p.R381C |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:721933C>A,c.926C>A,p.P309H |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:721146G>A,c.640G>A,p.G214S |
| EPS8L2(NM_022772,EPS8-like 2,715aa) | g.11:709567G>A,c.59G>A,p.R20Q |
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55598793C>T,c.2075C>T,p.S692L |
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55598724A>G,c.2006A>G,p.K669R |
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55597526G>A,c.1616G>A,p.R539Q |