| 基因名 | 突变 |
|---|---|
| SFI1(NM_001007467,Sfi1 homolog, spindle assembly associated (yeast),1242aa) | g.22:31924729A>G,c.146A>G,p.N49S |
| SF3B4(NM_005850,splicing factor 3b, subunit 4, 49kDa,424aa) | g.1:149895835A>G,c.985T>C,p.S329P |
| SF3B3(NM_012426,splicing factor 3b, subunit 3, 130kDa,1217aa) | g.16:70605045_70605046insC,c.3456_3457insC,p.1152fs |
| SF3B3(NM_012426,splicing factor 3b, subunit 3, 130kDa,1217aa) | g.16:70601320G>T,c.2833G>T,p.V945L |
| SF3B3(NM_012426,splicing factor 3b, subunit 3, 130kDa,1217aa) | g.16:70597871G>A,c.2381G>A,p.S794N |
| SF3B3(NM_012426,splicing factor 3b, subunit 3, 130kDa,1217aa) | g.16:70590898C>T,c.1976C>T,p.S659L |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65831191C>T,c.2321C>T,p.A774V |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65826406C>T,c.1072C>T,p.R358C |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65825594C>T,c.847C>T,p.R283C |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65822725G>A,c.437G>A,p.R146Q |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65822689G>A,c.401G>A,p.R134H |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65822620C>T,c.332C>T,p.P111L |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65819931G>T,c.76G>T,p.A26S |
| SF3B2(NM_006842,splicing factor 3b, subunit 2, 145kDa,895aa) | g.11:65819899_65819900insGCC,c.44_45insGCC,p.15ins1aa |
| SF3B1(NM_012433,splicing factor 3b, subunit 1, 155kDa,1304aa) | g.2:198274610G>A,c.788C>T,p.A263V |
| SF3A2(NM_007165,splicing factor 3a, subunit 2, 66kDa,464aa) | g.19:2248303G>A,c.1153G>A,p.A385T |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30742434T>C,c.260A>G,p.N87S |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30737857T>G,c.895A>C,p.T299P |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30737748T>C,c.1004A>G,p.K335R |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30737736G>A,c.1016C>T,p.A339V |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30736714C>T,c.1159G>A,p.V387I |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30734869T>C,c.1652A>G,p.N551S |
| SF3A1(NM_005877,splicing factor 3a, subunit 1, 120kDa,793aa) | g.22:30733122T>C,c.1999A>G,p.M667V |
| SF1(NM_004630,splicing factor 1,639aa) | g.11:64534503_64534505del,c.1449_1451del,p.483_484del |
| SF1(NM_004630,splicing factor 1,639aa) | g.11:64533444G>A,c.1766C>T,p.P589L |
| SEZ6(NM_178860,seizure related 6 homolog (mouse),994aa) | g.17:27308971G>T,c.142C>A,p.P48T |
| SEZ6(NM_178860,seizure related 6 homolog (mouse),994aa) | g.17:27308671T>C,c.442A>G,p.M148V |
| SEZ6(NM_178860,seizure related 6 homolog (mouse),994aa) | g.17:27296952G>A,c.877C>T,p.R293W |