| 基因名 | 突变 |
|---|---|
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78305871G>A,c.3583G>A,p.V1195M |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78302157C>A,c.3397C>A,p.Q1133K |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78298938A>G,c.3133A>G,p.N1045D |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78298927C>T,c.3122C>T,p.A1041V |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78298926G>A,c.3121G>A,p.A1041T |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78291021G>A,c.2845G>A,p.A949T |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78280174T>C,c.2333T>C,p.I778T |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78272294C>T,c.2186C>T,p.P729L |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78272230C>G,c.2122C>G,p.H708D |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78265621C>T,c.1466C>T,p.S489L |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78265482C>G,c.1327C>G,p.H443D |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78264464_78264466del,c.1208_1210del,p.403_404del |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78263542A>G,c.1018A>G,p.K340E |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78263486T>C,c.962T>C,p.M321T |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78262538T>C,c.917T>C,p.F306S |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78262161T>C,c.809T>C,p.M270T |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78261961G>C,c.609G>C,p.E203D |
| RNF213(NM_001256071,ring finger protein 213,5207aa) | g.17:78247124C>T,c.182C>T,p.P61L |
| RNF212(NM_001131034,ring finger protein 212,297aa) | g.4:1107149C>G,c.104G>C,p.G35A |
| RNF212(NM_001131034,ring finger protein 212,297aa) | g.4:1090624C>T,c.175G>A,p.D59N |
| RNF212(NM_001131034,ring finger protein 212,297aa) | g.4:1075216G>C,c.455C>G,p.A152G |
| RNF212(NM_001131034,ring finger protein 212,297aa) | g.4:1066769C>T,c.787G>A,p.V263I |
| RNF20(NM_019592,ring finger protein 20, E3 ubiquitin protein ligase,975aa) | g.9:104323459G>A,c.2596G>A,p.V866M |
| RNF20(NM_019592,ring finger protein 20, E3 ubiquitin protein ligase,975aa) | g.9:104303249A>G,c.620A>G,p.N207S |
| RNF208(NM_031297,ring finger protein 208,261aa) | g.9:140115373G>A,c.292C>T,p.P98S |
| RNF208(NM_031297,ring finger protein 208,261aa) | g.9:140115339C>T,c.326G>A,p.R109H |
| RNF207(NM_207396,ring finger protein 207,634aa) | g.1:6279370G>C,c.1808G>C,p.G603A |
| RNF207(NM_207396,ring finger protein 207,634aa) | g.1:6279316C>T,c.1754C>T,p.P585L |