| 基因名 | 突变 |
|---|---|
| RNH1(NM_002939,ribonuclease/angiogenin inhibitor 1,461aa) | g.11:499066C>T,c.563G>A,p.R188H |
| RNH1(NM_002939,ribonuclease/angiogenin inhibitor 1,461aa) | g.11:498023G>A,c.1075C>T,p.R359W |
| RNH1(NM_002939,ribonuclease/angiogenin inhibitor 1,461aa) | g.11:495007C>T,c.1174G>A,p.A392T |
| RNGTT(NM_003800,RNA guanylyltransferase and 5'-phosphatase,597aa) | g.6:89601534C>T,c.785G>A,p.G262D |
| RNGTT(NM_003800,RNA guanylyltransferase and 5'-phosphatase,597aa) | g.6:89559512C>A,c.1066G>T,p.V356F |
| RNGTT(NM_003800,RNA guanylyltransferase and 5'-phosphatase,597aa) | g.6:89554120T>C,c.1225A>G,p.S409G |
| RNGTT(NM_003800,RNA guanylyltransferase and 5'-phosphatase,597aa) | g.6:89324057T>C,c.1564A>G,p.N522D |
| RNFT2(NM_001109903,ring finger protein, transmembrane 2,444aa) | g.12:117287164C>T,c.1246C>T,p.R416C |
| RNFT2(NM_001109903,ring finger protein, transmembrane 2,444aa) | g.12:117217015G>T,c.744G>T,p.K248N |
| RNFT2(NM_001109903,ring finger protein, transmembrane 2,444aa) | g.12:117187950G>A,c.388G>A,p.V130M |
| RNFT1(NM_016125,ring finger protein, transmembrane 1,435aa) | g.17:58042014A>C,c.11T>G,p.F4C |
| RNFT1(NM_016125,ring finger protein, transmembrane 1,435aa) | g.17:58040269G>A,c.433C>T,p.R145C |
| RNFT1(NM_016125,ring finger protein, transmembrane 1,435aa) | g.17:58039923A>G,c.569T>C,p.I190T |
| RNFT1(NM_016125,ring finger protein, transmembrane 1,435aa) | g.17:58034638C>T,c.952G>A,p.V318I |
| RNFT1(NM_016125,ring finger protein, transmembrane 1,435aa) | g.17:58030426T>C,c.1220A>G,p.K407R |
| RNF8(NM_003958,ring finger protein 8, E3 ubiquitin protein ligase,485aa) | g.6:37349032C>T,c.1343C>T,p.T448M |
| RNF8(NM_003958,ring finger protein 8, E3 ubiquitin protein ligase,485aa) | g.6:37336983C>G,c.964C>G,p.Q322E |
| RNF8(NM_003958,ring finger protein 8, E3 ubiquitin protein ligase,485aa) | g.6:37336947G>C,c.928G>C,p.V310L |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26793644T>C,c.143A>G,p.N48S |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26789451T>C,c.568A>G,p.T190A |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26789411A>T,c.608T>A,p.V203E |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26789231C>T,c.788G>A,p.G263D |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26788951T>A,c.1068A>T,p.E356D |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26788812C>T,c.1207G>A,p.V403M |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26788496C>G,c.1523G>C,p.R508T |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26788394G>T,c.1625C>A,p.A542D |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26788304C>T,c.1715G>A,p.R572Q |
| RNF6(NM_005977,ring finger protein (C3H2C3 type) 6,685aa) | g.13:26788208C>T,c.1811G>A,p.R604H |