| 基因名 | 突变 |
|---|---|
| NUDT14(NM_177533,nudix (nucleoside diphosphate linked moiety X)-type motif 14,222aa) | g.14:105643046C>T,c.253G>A,p.G85R |
| NUDT14(NM_177533,nudix (nucleoside diphosphate linked moiety X)-type motif 14,222aa) | g.14:105642889C>T,c.410G>A,p.R137H |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74890583_74890584insC,c.981_982insC,p.327fs |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74886544A>G,c.817A>G,p.M273V |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74885268G>A,c.703+1G>A,p.235Donor |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74885196G>A,c.632G>A,p.R211Q |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74885195C>T,c.631C>T,p.R211X |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74884891C>T,c.481C>T,p.R161C |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74882044T>G,c.335T>G,p.L112R |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74881951G>A,c.242G>A,p.G81D |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74874194T>C,c.71T>C,p.V24A |
| NUDT13(NM_015901,nudix (nucleoside diphosphate linked moiety X)-type motif 13,352aa) | g.10:74874113A>G,c.-9-2A>G,p.5'UTRAcceptor |
| NUDT12(NM_031438,nudix (nucleoside diphosphate linked moiety X)-type motif 12,462aa) | g.5:102894730C>T,c.646G>A,p.V216I |
| NUDT12(NM_031438,nudix (nucleoside diphosphate linked moiety X)-type motif 12,462aa) | g.5:102894673T>C,c.703A>G,p.I235V |
| NUDT12(NM_031438,nudix (nucleoside diphosphate linked moiety X)-type motif 12,462aa) | g.5:102891787T>A,c.809A>T,p.Q270L |
| NUDT12(NM_031438,nudix (nucleoside diphosphate linked moiety X)-type motif 12,462aa) | g.5:102891655T>C,c.941A>G,p.H314R |
| NUDT12(NM_031438,nudix (nucleoside diphosphate linked moiety X)-type motif 12,462aa) | g.5:102887943T>A,c.1253A>T,p.D418V |
| NUDT10(NM_153183,nudix (nucleoside diphosphate linked moiety X)-type motif 10,164aa) | g.X:51076119C>T,c.302C>T,p.T101M |
| NUDC(NM_006600,nudC nuclear distribution protein,331aa) | g.1:27268000G>A,c.212G>A,p.R71Q |
| NUDC(NM_006600,nudC nuclear distribution protein,331aa) | g.1:27267997G>A,c.209G>A,p.R70Q |
| NUDC(NM_006600,nudC nuclear distribution protein,331aa) | g.1:27267996C>G,c.208C>G,p.R70G |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44530193T>G,c.7A>C,p.T3P |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44530186G>A,c.14C>T,p.A5V |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44524781C>A,c.295G>T,p.V99L |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44524724T>C,c.352A>G,p.I118V |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44444122G>A,c.703C>T,p.R235C |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44431978T>C,c.893A>G,p.D298G |
| NUDCD3(NM_015332,NudC domain containing 3,361aa) | g.7:44431912G>A,c.959C>T,p.P320L |