| 基因名 | 突变 |
|---|---|
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30733577C>G,c.3676C>G,p.L1226V |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30732558C>A,c.3302C>A,p.T1101K |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30732218C>T,c.3172C>T,p.P1058S |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30731577G>A,c.2912G>A,p.R971H |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30731568G>A,c.2903G>A,p.R968H |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30731526G>A,c.2861G>A,p.R954H |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30727466G>A,c.2573G>A,p.R858H |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30723307del,c.1644del,p.548fs |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30723252A>G,c.1589A>G,p.E530G |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30723222G>A,c.1559G>A,p.S520N |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30715397G>A,c.67G>A,p.G23S |
| SRCAP(NM_006662,Snf2-related CREBBP activator protein,3230aa) | g.16:30715392C>T,c.62C>T,p.S21L |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45829106C>T,c.197G>A,p.R66Q |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45826754C>A,c.482G>T,p.W161L |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45826715A>T,c.521T>A,p.F174Y |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45826643G>A,c.593C>T,p.P198L |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45808911A>G,c.854T>C,p.I285T |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45807104T>C,c.982A>G,p.R328G |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45801791C>G,c.1144G>C,p.D382H |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45800467T>C,c.1184A>G,p.H395R |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45789871T>C,c.1330A>G,p.N444D |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45778324A>C,c.1615T>G,p.L539V |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45645530G>C,c.2307C>G,p.N769K |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45640374C>A,c.2392G>T,p.V798F |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45640334T>C,c.2432A>G,p.K811R |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45640302G>C,c.2464C>G,p.P822A |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45620215T>A,c.2567A>T,p.Q856L |
| SRBD1(NM_018079,S1 RNA binding domain 1,995aa) | g.2:45616591C>T,c.2846G>A,p.R949Q |