| Genename | Variants |
|---|---|
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62458789C>A,c.968G>T,p.W323L |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62458765C>T,c.992G>A,p.R331H |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62458150C>T,c.1168G>A,p.E390K |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62457948A>G,c.1280T>C,p.L427P |
| BRWD3(NM_153252,bromodomain and WD repeat domain containing 3,1802aa) | g.X:79973220T>C,c.2083A>G,p.N695D |
| BRWD3(NM_153252,bromodomain and WD repeat domain containing 3,1802aa) | g.X:79943569T>C,c.3863A>G,p.K1288R |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40670460G>C,c.247C>G,p.Q83E |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40642352A>G,c.1252T>C,p.S418P |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40619715C>T,c.2393G>A,p.C798Y |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40604418G>A,c.2773C>T,p.R925W |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40604155T>C,c.2948A>G,p.N983S |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40578112T>C,c.4286A>G,p.N1429S |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40578076C>T,c.4322G>A,p.R1441Q |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40578068A>G,c.4330T>C,p.C1444R |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40574434T>C,c.4402A>G,p.I1468V |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40574305A>G,c.4531T>C,p.S1511P |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40571259C>T,c.5083G>A,p.D1695N |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40571246A>G,c.5096T>C,p.L1699P |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40571154G>A,c.5188C>T,p.R1730W |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40570959G>A,c.5383C>T,p.P1795S |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40570913G>A,c.5429C>T,p.A1810V |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40570769T>A,c.5573A>T,p.Q1858L |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40569102G>A,c.5893C>T,p.L1965F |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40568528T>C,c.6467A>G,p.K2156R |
| BRWD1(NM_033656,bromodomain and WD repeat domain containing 1,2269aa) | g.21:40568453G>A,c.6542C>T,p.T2181M |
| BRSK2(NM_001256627,BR serine/threonine kinase 2,736aa) | g.11:1481930A>G,c.2188A>G,p.T730A |
| BRSK2(NM_001256627,BR serine/threonine kinase 2,736aa) | g.11:1480451G>A,c.1969G>A,p.G657R |
| BRSK2(NM_001256627,BR serine/threonine kinase 2,736aa) | g.11:1477642G>C,c.1733G>C,p.G578A |