| Genename | Variants |
|---|---|
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664894G>A,c.1847G>A,p.S616N |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664546T>C,c.1499T>C,p.V500A |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664446G>A,c.1399G>A,p.D467N |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664428A>C,c.1381A>C,p.N461H |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664336A>G,c.1289A>G,p.K430R |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664333G>C,c.1286G>C,p.S429T |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664254G>A,c.1207G>A,p.V403M |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664204G>A,c.1157G>A,p.R386Q |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664203C>T,c.1156C>T,p.R386W |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123664150G>A,c.1103G>A,p.R368H |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123663832C>G,c.785C>G,p.T262S |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123663163T>C,c.116T>C,p.I39T |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76741341C>T,c.424G>A,p.D142N |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76740576T>C,c.1189A>G,p.I397V |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76740500C>T,c.1265G>A,p.R422Q |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76740353T>A,c.1412A>T,p.D471V |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76740149G>A,c.1616C>T,p.P539L |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76740134T>C,c.1631A>G,p.N544S |
| BBS10(NM_024685,Bardet-Biedl syndrome 10,723aa) | g.12:76740065A>G,c.1700T>C,p.I567T |
| BBOX1(NM_003986,butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1,387aa) | g.11:27148885G>A,c.1049G>A,p.R350H |
| BBOX1(NM_003986,butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1,387aa) | g.11:27148881C>T,c.1045C>T,p.R349X |
| BBOX1(NM_003986,butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1,387aa) | g.11:27147323T>G,c.959T>G,p.L320R |
| BBOX1(NM_003986,butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1,387aa) | g.11:27078766G>A,c.238G>A,p.D80N |
| BBOX1(NM_003986,butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1,387aa) | g.11:27077129G>A,c.152G>A,p.R51Q |
| BBIP1(NM_001195304,BBSome interacting protein 1,103aa) | g.10:112667574A>G,c.58T>C,p.Y20H |
| BBC3(NM_014417,BCL2 binding component 3,193aa) | g.19:47729882C>T,c.404G>A,p.R135Q |
| BBC3(NM_014417,BCL2 binding component 3,193aa) | g.19:47725109G>C,c.532C>G,p.L178V |
| BAZ2B(NM_013450,bromodomain adjacent to zinc finger domain, 2B,2168aa) | g.2:160310246A>G,c.212T>C,p.M71T |