| Genename | Variants |
|---|---|
| BBS4(NM_033028,Bardet-Biedl syndrome 4,519aa) | g.15:73028295A>T,c.1236A>T,p.E412D |
| BBS4(NM_033028,Bardet-Biedl syndrome 4,519aa) | g.15:73027478T>C,c.1061T>C,p.I354T |
| BBS4(NM_033028,Bardet-Biedl syndrome 4,519aa) | g.15:73007644G>T,c.233G>T,p.R78L |
| BBS4(NM_033028,Bardet-Biedl syndrome 4,519aa) | g.15:73002101A>G,c.137A>G,p.K46R |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56548501C>T,c.209G>A,p.S70N |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56548384G>A,c.326C>T,p.S109L |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56545175T>C,c.367A>G,p.I123V |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56545120T>C,c.422A>G,p.N141S |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56543915C>A,c.566G>T,p.R189L |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56536660T>C,c.865A>G,p.I289V |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56534830T>C,c.1333A>G,p.I445V |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56534782C>T,c.1381G>A,p.V461M |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56533706G>A,c.1511C>T,p.A504V |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56531682del,c.1770del,p.590fs |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56530895G>A,c.1894C>T,p.R632C |
| BBS2(NM_031885,Bardet-Biedl syndrome 2,721aa) | g.16:56518714T>A,c.2125A>T,p.T709S |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66299498C>T,c.1772C>T,p.A591V |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66299178A>T,c.1660A>T,p.S554C |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66299152A>G,c.1634A>G,p.N545S |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66291319G>A,c.1076G>A,p.R359H |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66291279G>A,c.1036G>A,p.V346I |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66287196G>A,c.700G>A,p.E234K |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66283020G>A,c.442G>A,p.D148N |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66281952G>A,c.235G>A,p.E79K |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66281880G>A,c.163G>A,p.V55M |
| BBS1(NM_024649,Bardet-Biedl syndrome 1,593aa) | g.11:66278154T>C,c.24T>C,p.D8D |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123665061G>A,c.2014G>A,p.A672T |
| BBS12(NM_001178007,Bardet-Biedl syndrome 12,710aa) | g.4:123665026C>T,c.1979C>T,p.P660L |