基因名 |
突变 |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28121790G>A,c.1732G>A,p.V578I |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28121278A>G,c.1220A>G,p.Q407R |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28121058A>C,c.1000A>C,p.S334R |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28120995C>T,c.937C>T,p.R313W |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28120944G>A,c.886G>A,p.G296S |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28117381C>T,c.538C>T,p.P180S |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28117331C>T,c.488C>T,p.P163L |
ZKSCAN8(NM_001278119,zinc finger with KRAB and SCAN domains 8,578aa) |
g.6:28116382G>A,c.197G>A,p.R66Q |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44612839C>T,c.2237C>T,p.S746F |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44612491C>T,c.1889C>T,p.T630M |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44612050C>T,c.1448C>T,p.T483I |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44611896A>G,c.1294A>G,p.T432A |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44611780A>G,c.1178A>G,p.N393S |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44611759A>G,c.1157A>G,p.D386G |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44611558T>C,c.956T>C,p.F319S |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44607013T>C,c.458T>C,p.F153S |
ZKSCAN7(NM_018651,zinc finger with KRAB and SCAN domains 7,754aa) |
g.3:44598757G>T,c.218G>T,p.S73I |
ZKSCAN5(NM_014569,zinc finger with KRAB and SCAN domains 5,839aa) |
g.7:99129744G>C,c.2392G>C,p.E798Q |
ZKSCAN5(NM_014569,zinc finger with KRAB and SCAN domains 5,839aa) |
g.7:99129642C>A,c.2290C>A,p.Q764K |
ZKSCAN5(NM_014569,zinc finger with KRAB and SCAN domains 5,839aa) |
g.7:99123668C>A,c.1005C>A,p.S335R |
ZKSCAN5(NM_014569,zinc finger with KRAB and SCAN domains 5,839aa) |
g.7:99110148C>T,c.487C>T,p.H163Y |
ZKSCAN5(NM_014569,zinc finger with KRAB and SCAN domains 5,839aa) |
g.7:99103734G>A,c.67G>A,p.E23K |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28219695G>A,c.64C>T,p.L22F |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28219661G>A,c.98C>T,p.S33F |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28219496C>T,c.263G>A,p.S88N |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28214791T>C,c.734A>G,p.Y245C |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28213606C>T,c.926G>A,p.R309K |
ZKSCAN4(NM_019110,zinc finger with KRAB and SCAN domains 4,545aa) |
g.6:28213219C>T,c.1313G>A,p.G438D |