基因名 |
突变 |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28213111G>A,c.1421C>T,p.T474M |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28333277_28333279del,c.832_834del,p.278del |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28331573T>A,c.738T>A,p.H246Q |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28331128A>C,c.599A>C,p.K200T |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28331127A>G,c.598A>G,p.K200E |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28331127_28331128AA>GC,c.598_599AA>GC,p.K200A |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28331094G>A,c.565G>A,p.V189M |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28329197A>C,c.499A>C,p.K167Q |
ZKSCAN3(NM_001242894,zinc finger with KRAB and SCAN domains 3,538aa) |
g.6:28327371G>C,c.8G>C,p.R3T |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25268426T>A,c.23A>T,p.Q8L |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25268071C>G,c.378G>C,p.E126D |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25266701C>T,c.412G>A,p.V138M |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25266694C>T,c.419G>A,p.R140Q |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25266616G>A,c.497C>T,p.A166V |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25266547C>A,c.566G>T,p.R189L |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25266545G>A,c.568C>T,p.R190W |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25263307C>G,c.728G>C,p.S243T |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25263278G>A,c.757C>T,p.L253F |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25263242C>T,c.793G>A,p.V265M |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258655A>G,c.862T>C,p.W288R |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258633G>A,c.884C>T,p.S295F |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258512A>T,c.1005T>A,p.D335E |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258450T>C,c.1067A>G,p.K356R |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258225C>T,c.1292G>A,p.R431H |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258085C>T,c.1432G>A,p.E478K |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25258041A>C,c.1476T>G,p.F492L |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25255366G>A,c.1721C>T,p.A574V |
ZKSCAN2(NM_001012981,zinc finger with KRAB and SCAN domains 2,967aa) |
g.16:25255242T>A,c.1845A>T,p.E615D |