| 基因名 | 突变 |
|---|---|
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49694439C>A,c.7450C>A,p.P2484T |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49694314G>A,c.7325G>A,p.R2442Q |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49694230G>A,c.7241G>A,p.R2414Q |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49693858del,c.6869del,p.2290fs |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49693153C>T,c.6164C>T,p.P2055L |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49693081G>A,c.6092G>A,p.R2031H |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49692910A>C,c.5921A>C,p.Q1974P |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49692575_49692577del,c.5586_5588del,p.1862_1863del |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49692507G>A,c.5518G>A,p.E1840K |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49692112C>T,c.5123C>T,p.S1708L |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49691619C>T,c.4630C>T,p.R1544C |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49691574A>G,c.4585A>G,p.M1529V |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49691434C>T,c.4445C>T,p.P1482L |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49690687C>T,c.3698C>T,p.T1233I |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49690684C>T,c.3695C>T,p.T1232I |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49690627G>A,c.3638G>A,p.G1213D |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49690620C>T,c.3631C>T,p.P1211S |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49689805C>T,c.2816C>T,p.T939M |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49689645A>G,c.2656A>G,p.S886G |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49689642C>T,c.2653C>T,p.P885S |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49689210G>A,c.2221G>A,p.A741T |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49689184G>A,c.2195G>A,p.R732Q |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49680581T>C,c.1514T>C,p.V505A |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49680041C>T,c.974C>T,p.P325L |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49679926G>A,c.859G>A,p.V287M |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49662566C>T,c.383C>T,p.T128M |
| BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) | g.3:49662458C>T,c.275C>T,p.A92V |
| BSND(NM_057176,Bartter syndrome, infantile, with sensorineural deafness (Barttin),320aa) | g.1:55474255T>C,c.917T>C,p.L306P |