| Genename | Variants |
|---|---|
| BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) | g.3:133119363C>T,c.436C>T,p.R146C |
| BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) | g.3:133119306C>G,c.379C>G,p.Q127E |
| BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) | g.3:133118995G>A,c.68G>A,p.R23H |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17511929C>G,c.46G>C,p.E16Q |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17505528G>A,c.403C>T,p.L135F |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17505513T>C,c.418A>G,p.M140V |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17489605G>A,c.664C>T,p.R222W |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17479609A>G,c.812T>C,p.I271T |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17479534G>A,c.887C>T,p.A296V |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17477592C>T,c.1033G>A,p.G345S |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17475592C>A,c.1125G>T,p.E375D |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17475569T>C,c.1148A>G,p.N383S |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17475523C>A,c.1194G>T,p.K398N |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17474841C>T,c.1876G>A,p.E626K |
| BFSP1(NM_001195,beaded filament structural protein 1, filensin,665aa) | g.20:17474778C>G,c.1939G>C,p.E647Q |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14758917A>C,c.1149A>C,p.R383S |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14755908G>A,c.943G>A,p.V315I |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14749035G>A,c.751G>A,p.V251M |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14748922G>A,c.639-1G>A,p.213Acceptor |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14743818G>A,c.626G>A,p.R209Q |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14743740C>T,c.548C>T,p.T183M |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14743700G>A,c.508G>A,p.E170K |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14742400T>G,c.419T>G,p.M140R |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14738316A>G,c.113A>G,p.Y38C |
| BFAR(NM_016561,bifunctional apoptosis regulator,450aa) | g.16:14738257A>T,c.54A>T,p.E18D |
| BEX5(NM_001159560,brain expressed, X-linked 5,111aa) | g.X:101409229_101409230insT,c.8_9insA,p.3fs |
| BEX2(NM_001168399,brain expressed X-linked 2,160aa) | g.X:102564811T>C,c.190A>G,p.N64D |
| BEX2(NM_001168399,brain expressed X-linked 2,160aa) | g.X:102564698T>C,c.303A>G,p.I101M |