| 基因名 | 突变 |
|---|---|
| NSUN5(NM_018044,NOP2/Sun domain family, member 5,429aa) | g.7:72718278G>A,c.883C>T,p.R295C |
| NSUN5(NM_018044,NOP2/Sun domain family, member 5,429aa) | g.7:72717727C>T,c.1156G>A,p.A386T |
| NSUN5(NM_018044,NOP2/Sun domain family, member 5,429aa) | g.7:72717687G>A,c.1196C>T,p.P399L |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46827456A>G,c.1093A>G,p.I365V |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46827337T>C,c.974T>C,p.I325T |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46827249C>T,c.886C>T,p.L296F |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46826446G>A,c.824G>A,p.R275Q |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46826406C>T,c.784C>T,p.R262C |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46810530A>G,c.151A>G,p.T51A |
| NSUN4(NM_199044,NOP2/Sun domain family, member 4,384aa) | g.1:46806550C>T,c.52C>T,p.L18F |
| NSUN3(NM_022072,NOP2/Sun domain family, member 3,340aa) | g.3:93845062A>G,c.751A>G,p.I251V |
| NSUN3(NM_022072,NOP2/Sun domain family, member 3,340aa) | g.3:93813038C>T,c.521C>T,p.T174M |
| NSUN3(NM_022072,NOP2/Sun domain family, member 3,340aa) | g.3:93803219G>A,c.391G>A,p.D131N |
| NSUN3(NM_022072,NOP2/Sun domain family, member 3,340aa) | g.3:93783323A>G,c.55A>G,p.K19E |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6620305del,c.729del,p.243fs |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6611887G>A,c.1046C>T,p.S349F |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6611191G>A,c.1103C>T,p.T368M |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6604329C>T,c.1879G>A,p.V627I |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6602574G>A,c.1997C>T,p.A666V |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6600200C>T,c.2143G>A,p.V715I |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6600149C>T,c.2194G>A,p.V732M |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6600064G>T,c.2279C>A,p.P760Q |
| NSUN2(NM_017755,NOP2/Sun RNA methyltransferase family, member 2,767aa) | g.5:6600043C>T,c.2300G>A,p.R767Q |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28512405G>A,c.1390G>A,p.D464N |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28512334G>A,c.1319G>A,p.R440Q |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28512323T>G,c.1308T>G,p.D436E |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28512093G>A,c.1078G>A,p.E360K |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28512027C>T,c.1012C>T,p.R338W |