| 基因名 | 突变 |
|---|---|
| RGAG1(NM_020769,retrotransposon gag domain containing 1,1388aa) | g.X:109695008C>T,c.1163C>T,p.P388L |
| RGAG1(NM_020769,retrotransposon gag domain containing 1,1388aa) | g.X:109694633C>T,c.788C>T,p.T263M |
| RGAG1(NM_020769,retrotransposon gag domain containing 1,1388aa) | g.X:109694468T>C,c.623T>C,p.M208T |
| RGAG1(NM_020769,retrotransposon gag domain containing 1,1388aa) | g.X:109694302G>A,c.457G>A,p.A153T |
| RGAG1(NM_020769,retrotransposon gag domain containing 1,1388aa) | g.X:109694090C>G,c.245C>G,p.P82R |
| RFXAP(NM_000538,regulatory factor X-associated protein,272aa) | g.13:37401859G>A,c.788G>A,p.R263K |
| RFXAP(NM_000538,regulatory factor X-associated protein,272aa) | g.13:37399604A>G,c.640A>G,p.T214A |
| RFXAP(NM_000538,regulatory factor X-associated protein,272aa) | g.13:37393924G>A,c.430G>A,p.E144K |
| RFXAP(NM_000538,regulatory factor X-associated protein,272aa) | g.13:37393904T>C,c.410T>C,p.M137T |
| RFXAP(NM_000538,regulatory factor X-associated protein,272aa) | g.13:37393670C>T,c.176C>T,p.A59V |
| RFXANK(NM_003721,regulatory factor X-associated ankyrin-containing protein,260aa) | g.19:19312496C>G,c.751C>G,p.Q251E |
| RFXANK(NM_003721,regulatory factor X-associated ankyrin-containing protein,260aa) | g.19:19309012C>T,c.535C>T,p.R179C |
| RFXANK(NM_003721,regulatory factor X-associated ankyrin-containing protein,260aa) | g.19:19307817G>A,c.233G>A,p.R78Q |
| RFXANK(NM_003721,regulatory factor X-associated ankyrin-containing protein,260aa) | g.19:19304899G>C,c.144G>C,p.E48D |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102083295C>T,c.16G>A,p.V6M |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102038936T>G,c.73-2A>C,p.25Acceptor |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102038849T>A,c.158A>T,p.Q53L |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102038824C>T,c.183G>A,p.M61I |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102035359G>A,c.305C>T,p.P102L |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102034017A>C,c.481T>G,p.L161V |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102031351G>C,c.526C>G,p.L176V |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102029489C>G,c.606G>C,p.L202F |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102029448G>A,c.647C>T,p.A216V |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102019083C>T,c.1060G>A,p.G354S |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102019008G>T,c.1135C>A,p.P379T |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102018908A>G,c.1235T>C,p.M412T |
| RFX8(NM_001145664,RFX family member 8, lacking RFX DNA binding domain,473aa) | g.2:102018907C>T,c.1236G>A,p.M412I |
| RFX7(NM_022841,regulatory factor X, 7,1460aa) | g.15:56388779T>C,c.1147A>G,p.M383V |