| 基因名 | 突变 |
|---|---|
| POM121(NM_001257190,POM121 transmembrane nucleoporin,999aa) | g.7:72400483G>C,c.314G>C,p.G105A |
| POM121(NM_001257190,POM121 transmembrane nucleoporin,999aa) | g.7:72397420G>A,c.146G>A,p.S49N |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279877T>C,c.73A>G,p.R25G |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279852T>C,c.98A>G,p.Q33R |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279805G>T,c.145C>A,p.P49T |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279774C>T,c.176G>A,p.R59Q |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279720C>T,c.230G>A,p.R77K |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279632C>A,c.318G>T,p.W106C |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279481C>T,c.469G>A,p.E157K |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279114_27279116del,c.834_836del,p.278_279del |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27279021C>G,c.929G>C,p.G310A |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27278634C>G,c.1316G>C,p.S439T |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27278179G>T,c.1771C>A,p.P591T |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27278020C>A,c.1930G>T,p.G644C |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277716A>T,c.2234T>A,p.I745N |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277665G>A,c.2285C>T,p.P762L |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277521G>T,c.2429C>A,p.T810N |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277402C>T,c.2548G>A,p.G850S |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277365G>A,c.2585C>T,p.T862I |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277212C>A,c.2738G>T,p.S913I |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277066C>T,c.2884G>A,p.A962T |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27277051C>T,c.2899G>A,p.A967T |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27276861T>C,c.3089A>G,p.H1030R |
| POM121L2(NM_033482,POM121 transmembrane nucleoporin-like 2,1035aa) | g.6:27276852T>C,c.3098A>G,p.Y1033C |
| POM121L12(NM_182595,POM121 transmembrane nucleoporin-like 12,296aa) | g.7:53103977G>T,c.613G>T,p.G205C |
| POM121L12(NM_182595,POM121 transmembrane nucleoporin-like 12,296aa) | g.7:53103842C>A,c.478C>A,p.P160T |
| POM121L12(NM_182595,POM121 transmembrane nucleoporin-like 12,296aa) | g.7:53103794C>T,c.430C>T,p.P144S |
| POM121L12(NM_182595,POM121 transmembrane nucleoporin-like 12,296aa) | g.7:53103766G>T,c.402G>T,p.W134C |