| 基因名 | 突变 |
|---|---|
| TRH(NM_007117,thyrotropin-releasing hormone,242aa) | g.3:129695577C>T,c.247C>T,p.R83C |
| TRH(NM_007117,thyrotropin-releasing hormone,242aa) | g.3:129694681C>G,c.22C>G,p.L8V |
| TRH(NM_007117,thyrotropin-releasing hormone,242aa) | g.3:129694666G>A,c.7G>A,p.G3S |
| TRHDE(NM_013381,thyrotropin-releasing hormone degrading enzyme,1024aa) | g.12:73015443A>T,c.2452A>T,p.I818L |
| TRHDE(NM_013381,thyrotropin-releasing hormone degrading enzyme,1024aa) | g.12:72962370A>T,c.1930A>T,p.T644S |
| TRHDE(NM_013381,thyrotropin-releasing hormone degrading enzyme,1024aa) | g.12:72666650A>T,c.92A>T,p.E31V |
| TREX2(NM_080701,three prime repair exonuclease 2,236aa) | g.X:152710845A>T,c.44T>A,p.L15Q |
| TREX2(NM_080701,three prime repair exonuclease 2,236aa) | g.X:152710623C>T,c.266G>A,p.R89Q |
| TREX2(NM_080701,three prime repair exonuclease 2,236aa) | g.X:152710422C>A,c.467G>T,p.R156L |
| TREX2(NM_080701,three prime repair exonuclease 2,236aa) | g.X:152710408C>T,c.481G>A,p.G161S |
| TREX2(NM_080701,three prime repair exonuclease 2,236aa) | g.X:152710261C>T,c.628G>A,p.A210T |
| TREX1(NM_016381,three prime repair exonuclease 1,369aa) | g.3:48508851A>G,c.962A>G,p.E321G |
| TREX1(NM_016381,three prime repair exonuclease 1,369aa) | g.3:48507959C>G,c.70C>G,p.P24A |
| TREX1(NM_016381,three prime repair exonuclease 1,369aa) | g.3:48507934G>T,c.45G>T,p.R15S |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42237172T>C,c.157A>G,p.I53V |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42237163G>T,c.166C>A,p.H56N |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42237144C>T,c.185G>A,p.R62Q |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42237036C>T,c.293G>A,p.R98H |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42236973C>T,c.356G>A,p.G119D |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42236442C>T,c.887G>A,p.R296H |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42232509T>C,c.1568A>G,p.N523S |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42231198T>C,c.1744A>G,p.M582V |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42231057C>T,c.1884+1G>A,p.628Donor |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42225913C>T,c.2296G>A,p.V766I |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42224546A>T,c.2500T>A,p.C834S |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42214221G>C,c.2718C>G,p.S906R |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42210997C>T,c.2848G>A,p.D950N |
| TRERF1(NM_033502,transcriptional regulating factor 1,1200aa) | g.6:42204105_42204106insTCC,c.2903_2904insGGA,p.968ins1aa |