| 基因名 | 突变 |
|---|---|
| FBXO47(NM_001008777,F-box protein 47,452aa) | g.17:37094917A>T,c.1152T>A,p.F384L |
| FBXO47(NM_001008777,F-box protein 47,452aa) | g.17:37093510T>C,c.1277A>G,p.N426S |
| FBXO47(NM_001008777,F-box protein 47,452aa) | g.17:37093466C>A,c.1321G>T,p.V441F |
| FBXO46(NM_001080469,F-box protein 46,603aa) | g.19:46216642G>T,c.112C>A,p.P38T |
| FBXO46(NM_001080469,F-box protein 46,603aa) | g.19:46216603C>T,c.151G>A,p.A51T |
| FBXO46(NM_001080469,F-box protein 46,603aa) | g.19:46216276G>A,c.478C>T,p.P160S |
| FBXO44(NM_001014765,F-box protein 44,255aa) | g.1:11721271G>A,c.709G>A,p.G237S |
| FBXO44(NM_001014765,F-box protein 44,255aa) | g.1:11721217G>A,c.655G>A,p.G219S |
| FBXO44(NM_001014765,F-box protein 44,255aa) | g.1:11718836G>A,c.532G>A,p.V178I |
| FBXO44(NM_001014765,F-box protein 44,255aa) | g.1:11718797G>A,c.493G>A,p.A165T |
| FBXO44(NM_001014765,F-box protein 44,255aa) | g.1:11718627G>A,c.430G>A,p.E144K |
| FBXO43(NM_001029860,F-box protein 43,708aa) | g.8:101154066G>A,c.416C>T,p.P139L |
| FBXO43(NM_001029860,F-box protein 43,708aa) | g.8:101153272G>A,c.1210C>T,p.H404Y |
| FBXO43(NM_001029860,F-box protein 43,708aa) | g.8:101152927C>T,c.1555G>A,p.A519T |
| FBXO43(NM_001029860,F-box protein 43,708aa) | g.8:101146088T>C,c.2069A>G,p.N690S |
| FBXO42(NM_018994,F-box protein 42,717aa) | g.1:16578784C>T,c.1037G>A,p.R346Q |
| FBXO42(NM_018994,F-box protein 42,717aa) | g.1:16578151G>A,c.1168C>T,p.R390C |
| FBXO42(NM_018994,F-box protein 42,717aa) | g.1:16577908G>C,c.1411C>G,p.P471A |
| FBXO42(NM_018994,F-box protein 42,717aa) | g.1:16577794C>T,c.1525G>A,p.A509T |
| FBXO42(NM_018994,F-box protein 42,717aa) | g.1:16577347C>T,c.1972G>A,p.G658R |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73496268G>C,c.491C>G,p.A164G |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73493769G>A,c.947C>T,p.A316V |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73493650C>T,c.1066G>A,p.A356T |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73493075G>A,c.1151C>T,p.P384L |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73492631T>C,c.1343A>G,p.N448S |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73492629C>T,c.1345G>A,p.G449R |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73492617G>A,c.1357C>T,p.R453W |
| FBXO41(NM_001080410,F-box protein 41,875aa) | g.2:73492614A>T,c.1360T>A,p.S454T |