| 基因名 | 突变 |
|---|---|
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55474231G>A,c.893G>A,p.G298E |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55474144G>A,c.806G>A,p.R269Q |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55474143C>T,c.805C>T,p.R269W |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55474048G>A,c.710G>A,p.R237H |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55473973A>G,c.635A>G,p.N212S |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55472923C>T,c.526C>T,p.R176C |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55472854G>A,c.457G>A,p.D153N |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55472706G>C,c.309G>C,p.E103D |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55464986G>A,c.127G>A,p.V43I |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55464948G>A,c.89G>A,p.R30Q |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55464881C>T,c.22C>T,p.R8W |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55464875A>G,c.16A>G,p.T6A |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55464869G>A,c.10G>A,p.E4K |
| BSG(NM_001728,basigin,385aa) | g.19:582310C>G,c.1074C>G,p.D358E |
| BSG(NM_001728,basigin,385aa) | g.19:580389G>C,c.583G>C,p.D195H |
| BSG(NM_001728,basigin,385aa) | g.19:579604G>C,c.520G>C,p.G174R |
| BSG(NM_001728,basigin,385aa) | g.19:577782G>T,c.76G>T,p.V26F |
| BSG(NM_001728,basigin,385aa) | g.19:572680A>G,c.46A>G,p.T16A |
| BSDC1(NM_001143888,BSD domain containing 1,447aa) | g.1:32842319T>C,c.751A>G,p.I251V |
| BSDC1(NM_001143888,BSD domain containing 1,447aa) | g.1:32842028G>C,c.1042C>G,p.P348A |
| BSDC1(NM_001143888,BSD domain containing 1,447aa) | g.1:32842006G>A,c.1064C>T,p.T355M |
| BSDC1(NM_001143888,BSD domain containing 1,447aa) | g.1:32841971G>A,c.1099C>T,p.P367S |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62474637C>T,c.31G>A,p.E11K |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62474613C>T,c.55G>A,p.G19R |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62474608G>C,c.60C>G,p.D20E |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62473053G>A,c.124C>T,p.R42C |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62473044C>T,c.133G>A,p.G45S |
| BSCL2(NM_001122955,Berardinelli-Seip congenital lipodystrophy 2 (seipin),462aa) | g.11:62459866G>A,c.845C>T,p.A282V |