| 基因名 | 突变 |
|---|---|
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182555767C>T,c.175G>A,p.G59S |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182555747G>T,c.195C>A,p.N65K |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182555653T>G,c.289A>C,p.I97L |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182555640A>G,c.302T>C,p.I101T |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182555149C>A,c.793G>T,p.E265X |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182555115G>A,c.827C>T,p.A276V |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182554557C>T,c.1385G>A,p.R462Q |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182551337A>C,c.1623T>G,p.D541E |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182550490C>T,c.1775G>A,p.R592H |
| RNASEL(NM_021133,ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent),741aa) | g.1:182550481G>A,c.1784C>T,p.T595M |
| RNASEH2C(NM_032193,ribonuclease H2, subunit C,164aa) | g.11:65487793T>C,c.268A>G,p.K90E |
| RNASEH2C(NM_032193,ribonuclease H2, subunit C,164aa) | g.11:65487793_65487795del,c.266_268del,p.89_90del |
| RNASEH2C(NM_032193,ribonuclease H2, subunit C,164aa) | g.11:65487791_65487793del,c.268_270del,p.90del |
| RNASEH2B(NM_001142279,ribonuclease H2, subunit B,257aa) | g.13:51523634C>T,c.734C>T,p.P245L |
| RNASEH2B(NM_001142279,ribonuclease H2, subunit B,257aa) | g.13:51519581G>A,c.529G>A,p.A177T |
| RNASEH2A(NM_006397,ribonuclease H2, subunit A,299aa) | g.19:12921216A>G,c.635A>G,p.N212S |
| RNASEH2A(NM_006397,ribonuclease H2, subunit A,299aa) | g.19:12921196T>A,c.615T>A,p.D205E |
| RNASEH2A(NM_006397,ribonuclease H2, subunit A,299aa) | g.19:12921186T>C,c.605T>C,p.L202S |
| RNASEH2A(NM_006397,ribonuclease H2, subunit A,299aa) | g.19:12921149G>A,c.568G>A,p.V190M |
| RNASEH1(NM_002936,ribonuclease H1,286aa) | g.2:3604459G>C,c.164C>G,p.A55G |
| RNASEH1(NM_002936,ribonuclease H1,286aa) | g.2:3599857T>A,c.286A>T,p.S96C |
| RNASEH1(NM_002936,ribonuclease H1,286aa) | g.2:3599791T>C,c.352A>G,p.M118V |
| RNASEH1(NM_002936,ribonuclease H1,286aa) | g.2:3598002C>T,c.470G>A,p.R157Q |
| RNASEH1(NM_002936,ribonuclease H1,286aa) | g.2:3596310G>A,c.569C>T,p.A190V |
| RNASEH1(NM_002936,ribonuclease H1,286aa) | g.2:3596238G>A,c.641C>T,p.T214M |
| RNASE9(NM_001110359,ribonuclease, RNase A family, 9 (non-active),210aa) | g.14:21025203T>G,c.41A>C,p.H14P |
| RNASE9(NM_001110359,ribonuclease, RNase A family, 9 (non-active),210aa) | g.14:21024930G>A,c.314C>T,p.A105V |
| RNASE9(NM_001110359,ribonuclease, RNase A family, 9 (non-active),210aa) | g.14:21024817C>T,c.427G>A,p.E143K |