基因名 突变
TESK1(NM_006285,testis-specific kinase 1,626aa) g.9:35609185G>A,c.1327G>A,p.E443K
TESK1(NM_006285,testis-specific kinase 1,626aa) g.9:35609165G>A,c.1307G>A,p.R436H
TESK1(NM_006285,testis-specific kinase 1,626aa) g.9:35608867G>A,c.1009G>A,p.A337T
TESK1(NM_006285,testis-specific kinase 1,626aa) g.9:35608501A>G,c.995A>G,p.N332S
TESC(NM_017899,tescalcin,214aa) g.12:117486930A>C,c.243T>G,p.D81E
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1294166C>T,c.835G>A,p.A279T
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1294163C>T,c.838G>A,p.E280K
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1294039C>A,c.962G>T,p.C321F
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1293863G>A,c.1138C>T,p.P380S
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1293767G>A,c.1234C>T,p.H412Y
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1293676_1293678del,c.1323_1325del,p.441_442del
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1280308C>T,c.1915G>A,p.V639I
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1280274C>T,c.1949G>A,p.R650K
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1278787T>C,c.2255A>G,p.H752R
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1255464del,c.3095del,p.1032fs
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1254594C>T,c.3184G>A,p.A1062T
TERT(NM_198253,telomerase reverse transcriptase,1132aa) g.5:1254521C>T,c.3257G>A,p.R1086H
TERF2(NM_005652,telomeric repeat binding factor 2,542aa) g.16:69400801C>T,c.1249G>A,p.A417T
TERF2(NM_005652,telomeric repeat binding factor 2,542aa) g.16:69390938C>T,c.1492G>A,p.E498K
TERF2IP(NM_018975,telomeric repeat binding factor 2, interacting protein,399aa) g.16:75690279A>G,c.970A>G,p.K324E
TERF2IP(NM_018975,telomeric repeat binding factor 2, interacting protein,399aa) g.16:75682045G>C,c.265G>C,p.E89Q
TERF2IP(NM_018975,telomeric repeat binding factor 2, interacting protein,399aa) g.16:75682003T>G,c.223T>G,p.S75A
TERF2IP(NM_018975,telomeric repeat binding factor 2, interacting protein,399aa) g.16:75681958G>A,c.178G>A,p.G60R
TERF1(NM_017489,telomeric repeat binding factor (NIMA-interacting) 1,439aa) g.8:73944312A>G,c.983A>G,p.H328R
TERF1(NM_017489,telomeric repeat binding factor (NIMA-interacting) 1,439aa) g.8:73921283_73921284insGAG,c.162_163insGAG,p.54_55ins1aa
TERF1(NM_017489,telomeric repeat binding factor (NIMA-interacting) 1,439aa) g.8:73921259G>C,c.138G>C,p.E46D
TEPP(NM_199046,testis, prostate and placenta expressed,298aa) g.16:58019396G>A,c.779G>A,p.S260N
TEPP(NM_199046,testis, prostate and placenta expressed,298aa) g.16:58018682G>A,c.593G>A,p.G198E
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org