| 基因名 | 突变 |
|---|---|
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128627733A>G,c.1880A>G,p.Q627R |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128627684G>A,c.1831G>A,p.A611T |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128621168G>A,c.1453G>A,p.E485K |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128608927G>A,c.1354G>A,p.A452T |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128608896A>C,c.1323A>C,p.R441S |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128577820G>A,c.712G>A,p.D238N |
| INTU(NM_015693,inturned planar cell polarity protein,942aa) | g.4:128554293T>C,c.104T>C,p.V35A |
| INTS9(NM_018250,integrator complex subunit 9,658aa) | g.8:28695167C>T,c.388G>A,p.V130I |
| INTS9(NM_018250,integrator complex subunit 9,658aa) | g.8:28669907G>C,c.681C>G,p.I227M |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95879423G>A,c.2351G>A,p.R784Q |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95878387A>C,c.2263A>C,p.S755R |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95877818G>A,c.2161G>A,p.V721I |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95869177T>C,c.1925T>C,p.V642A |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95862308A>G,c.1496A>G,p.Y499C |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95861739G>A,c.1310G>A,p.G437E |
| INTS8(NM_017864,integrator complex subunit 8,995aa) | g.8:95848834T>C,c.836T>C,p.F279S |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212161239C>T,c.986G>A,p.S329N |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212156140G>A,c.1010C>T,p.S337F |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212156041A>G,c.1109T>C,p.I370T |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212154442G>A,c.1223C>T,p.T408I |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212120028T>C,c.2336A>G,p.N779S |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212115386G>A,c.2669C>T,p.T890I |
| INTS7(NM_015434,integrator complex subunit 7,962aa) | g.1:212115314T>C,c.2741A>G,p.N914S |
| INTS6(NM_012141,integrator complex subunit 6,887aa) | g.13:51952518G>A,c.1459C>T,p.R487W |
| INTS6(NM_012141,integrator complex subunit 6,887aa) | g.13:51950198T>C,c.1715A>G,p.K572R |
| INTS6(NM_012141,integrator complex subunit 6,887aa) | g.13:51943338G>C,c.2213C>G,p.A738G |
| INTS5(NM_030628,integrator complex subunit 5,1019aa) | g.11:62416154_62416155insG,c.1397_1398insC,p.466fs |
| INTS5(NM_030628,integrator complex subunit 5,1019aa) | g.11:62415907G>A,c.1645C>T,p.L549F |