| 基因名 | 突变 |
|---|---|
| SRRM1(NM_005839,serine/arginine repetitive matrix 1,904aa) | g.1:24977983G>A,c.605G>A,p.R202H |
| SRRD(NM_001013694,SRR1 domain containing,339aa) | g.22:26884039G>A,c.295G>A,p.A99T |
| SRRD(NM_001013694,SRR1 domain containing,339aa) | g.22:26883998C>T,c.254C>T,p.T85I |
| SRRD(NM_001013694,SRR1 domain containing,339aa) | g.22:26879984G>A,c.128G>A,p.G43E |
| SRRD(NM_001013694,SRR1 domain containing,339aa) | g.22:26879947_26879967del,c.91_111del,p.31_37del |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38079996A>G,c.50T>C,p.L17P |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38079976_38079978del,c.68_70del,p.23_24del |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38037546C>T,c.149G>A,p.R50K |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38031151C>T,c.509G>A,p.R170Q |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38024143C>G,c.532G>C,p.E178Q |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38024076C>T,c.599G>A,p.R200Q |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38020288G>A,c.673C>T,p.P225S |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38020215C>T,c.746G>A,p.G249D |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38016171C>T,c.1067G>A,p.R356Q |
| SRPX(NM_006307,sushi-repeat containing protein, X-linked,464aa) | g.X:38009121G>A,c.1238C>T,p.S413F |
| SRPX2(NM_014467,sushi-repeat containing protein, X-linked 2,465aa) | g.X:99925815G>A,c.1229G>A,p.R410H |
| SRPX2(NM_014467,sushi-repeat containing protein, X-linked 2,465aa) | g.X:99922289A>G,c.980A>G,p.N327S |
| SRPX2(NM_014467,sushi-repeat containing protein, X-linked 2,465aa) | g.X:99920566C>A,c.693C>A,p.H231Q |
| SRPX2(NM_014467,sushi-repeat containing protein, X-linked 2,465aa) | g.X:99919864C>T,c.449C>T,p.S150F |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126136811T>C,c.533A>G,p.D178G |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126136754C>T,c.590G>A,p.G197D |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126136516G>A,c.695C>T,p.T232M |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126136418T>C,c.793A>G,p.T265A |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126136169C>T,c.845G>A,p.R282Q |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126134931C>T,c.1448G>A,p.G483D |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126133927T>C,c.1801A>G,p.I601V |
| SRPR(NM_003139,signal recognition particle receptor (docking protein),638aa) | g.11:126133894C>T,c.1834G>A,p.V612I |
| SRPRB(NM_021203,signal recognition particle receptor, B subunit,271aa) | g.3:133538548A>G,c.754A>G,p.R252G |