| 基因名 | 突变 |
|---|---|
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024228G>A,c.124G>A,p.V42I |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024208C>T,c.104C>T,p.T35I |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024070C>T,c.55C>T,p.R19C |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72992858C>G,c.22G>C,p.E8Q |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72992763G>T,c.117C>A,p.S39R |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72988756T>C,c.218A>G,p.Q73R |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72988371G>A,c.343C>T,p.R115C |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72988289A>C,c.425T>G,p.V142G |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72988287G>A,c.427C>T,p.R143C |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72985627T>G,c.770A>C,p.E257A |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72985522C>T,c.875G>A,p.R292Q |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72985238T>G,c.943A>C,p.K315Q |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72985148C>T,c.1033G>A,p.V345I |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72985103G>A,c.1078C>T,p.R360W |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72984929G>A,c.1252C>T,p.R418W |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72984928C>T,c.1253G>A,p.R418Q |
| TBL2(NM_012453,transducin (beta)-like 2,447aa) | g.7:72984918_72984920del,c.1261_1263del,p.421del |
| TBL1Y(NM_033284,transducin (beta)-like 1, Y-linked,522aa) | g.Y:6948866A>G,c.1049A>G,p.H350R |
| TBL1Y(NM_033284,transducin (beta)-like 1, Y-linked,522aa) | g.Y:6932191G>C,c.457+1G>C,p.153Donor |
| TBL1Y(NM_033284,transducin (beta)-like 1, Y-linked,522aa) | g.Y:6932171G>C,c.438G>C,p.E146D |
| TBL1Y(NM_033284,transducin (beta)-like 1, Y-linked,522aa) | g.Y:6931957G>T,c.224G>T,p.S75I |
| TBL1Y(NM_033284,transducin (beta)-like 1, Y-linked,522aa) | g.Y:6931953G>A,c.220G>A,p.D74N |
| TBL1XR1(NM_024665,transducin (beta)-like 1 X-linked receptor 1,514aa) | g.3:176750883C>T,c.1292G>A,p.R431Q |
| TBL1X(NM_005647,transducin (beta)-like 1X-linked,577aa) | g.X:9677675C>G,c.1314C>G,p.I438M |
| TBL1X(NM_005647,transducin (beta)-like 1X-linked,577aa) | g.X:9621684G>T,c.58G>T,p.A20S |
| TBL1X(NM_005647,transducin (beta)-like 1X-linked,577aa) | g.X:9621639G>T,c.13G>T,p.A5S |
| TBKBP1(NM_014726,TBK1 binding protein 1,615aa) | g.17:45786621G>A,c.1522G>A,p.A508T |
| TBKBP1(NM_014726,TBK1 binding protein 1,615aa) | g.17:45786519G>A,c.1420G>A,p.A474T |