| 基因名 | 突变 |
|---|---|
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85701796G>A,c.3181G>A,p.V1061I |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85699831C>T,c.3008C>T,p.P1003L |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85699755G>A,c.2932G>A,p.E978K |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85699621C>T,c.2798C>T,p.P933L |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85697098C>G,c.2522C>G,p.P841R |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85697083G>A,c.2507G>A,p.R836Q |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85697082C>T,c.2506C>T,p.R836W |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85697019C>T,c.2443C>T,p.R815W |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85696658G>A,c.2332G>A,p.V778M |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85696653G>A,c.2327G>A,p.R776H |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85696635A>T,c.2309A>T,p.E770V |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85695354G>A,c.2243G>A,p.R748Q |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85695279C>T,c.2168C>T,p.A723V |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85695180G>A,c.2069G>A,p.R690Q |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85695078C>T,c.1967C>T,p.P656L |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85694906C>T,c.1795C>T,p.R599W |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85694784G>A,c.1673G>A,p.R558H |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85690961C>T,c.1391C>T,p.T464M |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85690931C>T,c.1361C>T,p.P454L |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85690913C>T,c.1343C>T,p.P448L |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85690900G>A,c.1330G>A,p.G444S |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85690125G>A,c.1166G>A,p.R389Q |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85690001_85690006del,c.1042_1047del,p.348_349del |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85689998C>T,c.1039C>T,p.R347C |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85689975G>A,c.1016G>A,p.R339Q |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85689405C>G,c.871C>G,p.P291A |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85689333A>T,c.799A>T,p.M267L |
| GSE1(NM_014615,Gse1 coiled-coil protein,1217aa) | g.16:85688513C>T,c.713C>T,p.P238L |