| Genename | Variants |
|---|---|
| BCAM(NM_001013257,basal cell adhesion molecule (Lutheran blood group),588aa) | g.19:45315445G>A,c.230G>A,p.R77H |
| BCAM(NM_001013257,basal cell adhesion molecule (Lutheran blood group),588aa) | g.19:45314515C>T,c.116C>T,p.P39L |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107520067G>A,c.2677G>A,p.V893M |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107520009A>T,c.2619A>T,p.K873N |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107517460C>T,c.2444C>T,p.T815M |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107492103G>A,c.1535G>A,p.R512H |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107491892G>A,c.1324G>A,p.A442T |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107491759_107491761del,c.1191_1193del,p.397_398del |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107466840C>T,c.779C>T,p.A260V |
| BBX(NM_001142568,bobby sox homolog (Drosophila),941aa) | g.3:107435532C>T,c.241C>T,p.R81W |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33644548A>G,c.2593A>G,p.T865A |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33573737C>T,c.2470C>T,p.R824C |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33573630C>T,c.2363C>T,p.S788F |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33427727G>A,c.2086G>A,p.D696N |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33427674G>A,c.2033G>A,p.R678H |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33397560C>T,c.1646C>T,p.T549I |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33397476G>A,c.1562G>A,p.R521Q |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33388713G>A,c.1363G>A,p.A455T |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33380556G>A,c.1246G>A,p.V416M |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33313480A>G,c.928A>G,p.N310D |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33192464G>A,c.263+1G>A,p.88Donor |
| BBS9(NM_198428,Bardet-Biedl syndrome 9,887aa) | g.7:33185898A>G,c.34A>G,p.T12A |
| BBS7(NM_176824,Bardet-Biedl syndrome 7,715aa) | g.4:122782720T>A,c.280A>T,p.T94S |
| BBS5(NM_152384,Bardet-Biedl syndrome 5,341aa) | g.2:170356065A>G,c.751A>G,p.N251D |
| BBS5(NM_152384,Bardet-Biedl syndrome 5,341aa) | g.2:170354138G>A,c.620G>A,p.R207H |
| BBS5(NM_152384,Bardet-Biedl syndrome 5,341aa) | g.2:170350279A>G,c.551A>G,p.N184S |
| BBS5(NM_152384,Bardet-Biedl syndrome 5,341aa) | g.2:170344603C>A,c.365C>A,p.T122N |
| BBS4(NM_033028,Bardet-Biedl syndrome 4,519aa) | g.15:73029268A>G,c.1414A>G,p.M472V |