| 基因名 | 突变 |
|---|---|
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14083695C>T,c.1174G>A,p.G392R |
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14083644C>T,c.1225G>A,p.G409R |
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14083602T>C,c.1267A>G,p.S423G |
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14079475T>C,c.1634A>G,p.K545R |
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14077528C>T,c.1768G>A,p.D590N |
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14077489C>T,c.1807G>A,p.G603R |
| RFX1(NM_002918,regulatory factor X, 1 (influences HLA class II expression),979aa) | g.19:14074441C>T,c.2479G>A,p.G827S |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74695295T>C,c.53A>G,p.E18G |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74695289T>G,c.59A>C,p.Q20P |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74695079G>T,c.269C>A,p.T90N |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74678537C>T,c.889G>A,p.A297T |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74671866G>A,c.1082C>T,p.S361F |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74671848A>G,c.1100T>C,p.M367T |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74670306T>C,c.1364A>G,p.Y455C |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74664743T>C,c.1690A>G,p.I564V |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74660404C>T,c.2018G>A,p.R673Q |
| RFWD3(NM_018124,ring finger and WD repeat domain 3,774aa) | g.16:74657852T>C,c.2299A>G,p.M767V |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176175819A>C,c.296T>G,p.V99G |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176145082C>T,c.529G>A,p.V177M |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176132950C>T,c.642+1G>A,p.214Donor |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176118179A>G,c.794T>C,p.M265T |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176105631C>G,c.884G>C,p.R295T |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176055026T>C,c.1027A>G,p.T343A |
| RFWD2(NM_022457,ring finger and WD repeat domain 2, E3 ubiquitin protein ligase,731aa) | g.1:176050414C>T,c.1151G>A,p.R384Q |
| RFTN2(NM_144629,raftlin family member 2,501aa) | g.2:198498573C>G,c.587G>C,p.S196T |
| RFTN2(NM_144629,raftlin family member 2,501aa) | g.2:198498566A>C,c.594T>G,p.N198K |
| RFTN2(NM_144629,raftlin family member 2,501aa) | g.2:198482574T>G,c.1000A>C,p.S334R |
| RFTN2(NM_144629,raftlin family member 2,501aa) | g.2:198436886C>T,c.1352G>A,p.R451H |