| 基因名 | 突变 |
|---|---|
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18765449T>C,c.1027A>G,p.I343V |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18764236G>A,c.1150C>T,p.R384C |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18764161G>A,c.1225C>T,p.R409W |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18758146C>T,c.1268G>A,p.R423H |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18758132C>T,c.1282G>A,p.G428R |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18757571C>T,c.1439G>A,p.R480H |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18745214C>T,c.1732G>A,p.E578K |
| NT5C1B(NM_001199087,5'-nucleotidase, cytosolic IB,627aa) | g.2:18745155G>T,c.1791C>A,p.H597Q |
| NT5C1A(NM_032526,5'-nucleotidase, cytosolic IA,368aa) | g.1:40131787T>C,c.257A>G,p.H86R |
| NT5C1A(NM_032526,5'-nucleotidase, cytosolic IA,368aa) | g.1:40129104_40129105del,c.435_436del,p.145fs |
| NT5C1A(NM_032526,5'-nucleotidase, cytosolic IA,368aa) | g.1:40125077T>C,c.823A>G,p.I275V |
| NT5C1A(NM_032526,5'-nucleotidase, cytosolic IA,368aa) | g.1:40124804A>C,c.1096T>G,p.S366A |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40810747A>G,c.1948A>G,p.K650E |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40810690C>A,c.1891C>A,p.Q631K |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40810663A>G,c.1864A>G,p.T622A |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40796482A>G,c.1271A>G,p.H424R |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40796398A>T,c.1187A>T,p.E396V |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40778256T>C,c.1016T>C,p.F339S |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40778162T>G,c.922T>G,p.S308A |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40778103C>T,c.863C>T,p.A288V |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40778078A>T,c.838A>T,p.S280C |
| NSUN7(NM_024677,NOP2/Sun domain family, member 7,718aa) | g.4:40763243A>T,c.413A>T,p.K138I |
| NSUN6(NM_182543,NOP2/Sun domain family, member 6,469aa) | g.10:18903543C>A,c.422-1G>T,p.141Acceptor |
| NSUN6(NM_182543,NOP2/Sun domain family, member 6,469aa) | g.10:18840868G>A,c.955C>T,p.R319X |
| NSUN6(NM_182543,NOP2/Sun domain family, member 6,469aa) | g.10:18840768C>T,c.1055G>A,p.R352Q |
| NSUN6(NM_182543,NOP2/Sun domain family, member 6,469aa) | g.10:18834926C>T,c.1346G>A,p.R449H |
| NSUN5(NM_018044,NOP2/Sun domain family, member 5,429aa) | g.7:72722451T>G,c.193A>C,p.K65Q |
| NSUN5(NM_018044,NOP2/Sun domain family, member 5,429aa) | g.7:72721449C>T,c.442G>A,p.D148N |