| 基因名 | 突变 |
|---|---|
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32000475G>A,c.815C>T,p.T272M |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32000470G>A,c.820C>T,p.R274W |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32000216G>A,c.926C>T,p.T309I |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:31996554C>T,c.1378G>A,p.G460S |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:31996389G>A,c.1442C>T,p.S481L |
| SNRPF(NM_003095,small nuclear ribonucleoprotein polypeptide F,86aa) | g.12:96254977A>G,c.35A>G,p.N12S |
| SNRPD2(NM_177542,small nuclear ribonucleoprotein D2 polypeptide 16.5kDa,108aa) | g.19:46191706G>T,c.91C>A,p.Q31K |
| SNRPC(NM_003093,small nuclear ribonucleoprotein polypeptide C,159aa) | g.6:34741279A>G,c.412A>G,p.M138V |
| SNRPB(NM_003091,small nuclear ribonucleoprotein polypeptides B and B1,231aa) | g.20:2443763_2443764insG,c.530_531insC,p.177fs |
| SNRPB(NM_003091,small nuclear ribonucleoprotein polypeptides B and B1,231aa) | g.20:2443363G>A,c.604C>T,p.P202S |
| SNRPA1(NM_003090,small nuclear ribonucleoprotein polypeptide A',255aa) | g.15:101832180C>T,c.296G>A,p.S99N |
| SNRPA1(NM_003090,small nuclear ribonucleoprotein polypeptide A',255aa) | g.15:101826494C>T,c.464G>A,p.R155H |
| SNRNP70(NM_003089,small nuclear ribonucleoprotein 70kDa (U1),437aa) | g.19:49611072C>T,c.686C>T,p.P229L |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7606329A>G,c.872A>G,p.E291G |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7606299G>A,c.842G>A,p.R281Q |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7605665A>T,c.752A>T,p.E251V |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7601670_7601672del,c.508_510del,p.170del |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7593998A>G,c.188A>G,p.N63S |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7590642C>T,c.152C>T,p.A51V |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7590636A>T,c.146A>T,p.E49V |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7590624C>T,c.134C>T,p.P45L |
| SNRNP48(NM_152551,small nuclear ribonucleoprotein 48kDa (U11/U12),339aa) | g.6:7590498G>A,c.8G>A,p.G3D |
| SNRNP35(NM_180699,small nuclear ribonucleoprotein 35kDa (U11/U12),251aa) | g.12:123950400G>A,c.328G>A,p.V110M |
| SNRNP25(NM_024571,small nuclear ribonucleoprotein 25kDa (U11/U12),132aa) | g.16:105863G>A,c.247G>A,p.G83S |
| SNRNP25(NM_024571,small nuclear ribonucleoprotein 25kDa (U11/U12),132aa) | g.16:105816A>G,c.200A>G,p.K67R |
| SNRNP25(NM_024571,small nuclear ribonucleoprotein 25kDa (U11/U12),132aa) | g.16:105779G>A,c.163G>A,p.V55M |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96969045C>T,c.233G>A,p.R78Q |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96963419T>C,c.1159A>G,p.M387V |