基因名 |
突变 |
ZIK1(NM_001010879,zinc finger protein interacting with K protein 1,487aa) |
g.19:58102287C>T,c.1108C>T,p.R370X |
ZIK1(NM_001010879,zinc finger protein interacting with K protein 1,487aa) |
g.19:58102044C>T,c.865C>T,p.H289Y |
ZIK1(NM_001010879,zinc finger protein interacting with K protein 1,487aa) |
g.19:58101879A>G,c.700A>G,p.T234A |
ZIK1(NM_001010879,zinc finger protein interacting with K protein 1,487aa) |
g.19:58099967G>A,c.133G>A,p.D45N |
ZIK1(NM_001010879,zinc finger protein interacting with K protein 1,487aa) |
g.19:58099937T>G,c.103T>G,p.Y35D |
ZIK1(NM_001010879,zinc finger protein interacting with K protein 1,487aa) |
g.19:58096356A>T,c.70A>T,p.K24X |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100623892del,c.38del,p.13fs |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100623815A>C,c.115T>G,p.L39V |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100623770T>A,c.160A>T,p.T54S |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100623724C>G,c.206G>C,p.R69P |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100623601G>T,c.329C>A,p.A110E |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100623404A>G,c.526T>C,p.S176P |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100622717C>T,c.1213G>A,p.E405K |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100622668_100622670del,c.1260_1262del,p.420_421del |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100617761T>C,c.1862A>G,p.N621S |
ZIC5(NM_033132,Zic family member 5,663aa) |
g.13:100617635T>C,c.1988A>G,p.H663R |
ZIC4(NM_032153,Zic family member 4,334aa) |
g.3:147120544C>T,c.41G>A,p.R14Q |
ZIC4(NM_032153,Zic family member 4,334aa) |
g.3:147114032C>G,c.295G>C,p.G99R |
ZIC4(NM_032153,Zic family member 4,334aa) |
g.3:147113821G>C,c.506C>G,p.A169G |
ZIC4(NM_032153,Zic family member 4,334aa) |
g.3:147108757G>A,c.965C>T,p.S322L |
ZIC3(NM_003413,Zic family member 3,467aa) |
g.X:136649499C>G,c.649C>G,p.P217A |
ZIC3(NM_003413,Zic family member 3,467aa) |
g.X:136648899G>T,c.49G>T,p.G17C |
ZIC2(NM_007129,Zic family member 2,532aa) |
g.13:100635008_100635010del,c.690_692del,p.230_231del |
ZIC1(NM_003412,Zic family member 1,447aa) |
g.3:147128227G>C,c.328G>C,p.A110P |
ZHX3(NM_015035,zinc fingers and homeoboxes 3,956aa) |
g.20:39833063G>A,c.494C>T,p.A165V |
ZHX3(NM_015035,zinc fingers and homeoboxes 3,956aa) |
g.20:39832800C>T,c.757G>A,p.A253T |
ZHX3(NM_015035,zinc fingers and homeoboxes 3,956aa) |
g.20:39832628T>C,c.929A>G,p.N310S |
ZHX3(NM_015035,zinc fingers and homeoboxes 3,956aa) |
g.20:39832625G>A,c.932C>T,p.A311V |