基因名 |
突变 |
TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) |
g.3:133337240G>C,c.3409C>G,p.P1137A |
TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) |
g.3:133336147G>A,c.3616C>T,p.R1206C |
TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) |
g.3:133336020G>A,c.3743C>T,p.P1248L |
TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) |
g.3:133331261G>T,c.4007C>A,p.A1336D |
TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) |
g.3:133327432C>A,c.4372G>T,p.A1458S |
TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) |
g.3:133320184A>C,c.4479T>G,p.I1493M |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44369849A>G,c.4783A>G,p.I1595V |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44347833A>G,c.4055A>G,p.Q1352R |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44286631A>G,c.2633A>G,p.N878S |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44286384A>G,c.2386A>G,p.K796E |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44286207A>G,c.2209A>G,p.M737V |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44286112A>G,c.2114A>G,p.K705R |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44286015C>G,c.2017C>G,p.P673A |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44285875C>T,c.1877C>T,p.T626M |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44285557G>A,c.1559G>A,p.R520H |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44285446A>G,c.1448A>G,p.Q483R |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44284851G>A,c.853G>A,p.E285K |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44284584G>A,c.586G>A,p.V196I |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44283808C>A,c.263C>A,p.P88Q |
TOPAZ1(NM_001145030,testis and ovary specific PAZ domain containing 1,1692aa) |
g.3:44283672T>C,c.127T>C,p.C43R |
TOP3B(NM_003935,topoisomerase (DNA) III beta,862aa) |
g.22:22318660G>A,c.971C>T,p.T324M |
TOP3B(NM_003935,topoisomerase (DNA) III beta,862aa) |
g.22:22318538C>T,c.1093G>A,p.D365N |
TOP3B(NM_003935,topoisomerase (DNA) III beta,862aa) |
g.22:22318354T>C,c.1145A>G,p.H382R |
TOP3B(NM_003935,topoisomerase (DNA) III beta,862aa) |
g.22:22318346C>T,c.1153G>A,p.G385S |
TOP3B(NM_003935,topoisomerase (DNA) III beta,862aa) |
g.22:22313053G>A,c.1918C>T,p.R640C |
TOP3B(NM_003935,topoisomerase (DNA) III beta,862aa) |
g.22:22311776A>G,c.2299T>C,p.S767P |
TOP3A(NM_004618,topoisomerase (DNA) III alpha,1001aa) |
g.17:18208521C>T,c.404G>A,p.R135Q |
TOP3A(NM_004618,topoisomerase (DNA) III alpha,1001aa) |
g.17:18205933C>T,c.604G>A,p.D202N |