| 基因名 | 突变 |
|---|---|
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45148847G>A,c.1364C>T,p.P455L |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45148626T>A,c.1585A>T,p.S529C |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45148500T>C,c.1711A>G,p.M571V |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45148257G>A,c.1954C>T,p.P652S |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45147926G>A,c.2285C>T,p.S762L |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45147516C>T,c.2695G>A,p.A899T |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45147305T>A,c.2906A>T,p.D969V |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135801087C>T,c.250G>A,p.A84T |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135787731C>T,c.851G>A,p.R284H |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135786904A>G,c.965T>C,p.M322T |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135786868G>A,c.1001C>T,p.S334L |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135786013G>A,c.1208C>T,p.S403L |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135781505G>C,c.1460C>G,p.S487C |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135781268del,c.1697del,p.566fs |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135781108del,c.1857del,p.619fs |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135781029T>C,c.1936A>G,p.M646V |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135781005G>C,c.1960C>G,p.Q654E |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135779052G>A,c.2194C>T,p.H732Y |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135778098T>C,c.2285A>G,p.N762S |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135776993T>G,c.2485A>C,p.S829R |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135772950_135772951insT,c.2672_2673insA,p.891fs |
| TSC1(NM_000368,tuberous sclerosis 1,1164aa) | g.9:135771987_135771988insGCT,c.3129_3130insAGC,p.1043_1044ins1aa |
| TSACC(NM_144627,TSSK6 activating co-chaperone,125aa) | g.1:156316594G>C,c.199G>C,p.E67Q |
| TSACC(NM_144627,TSSK6 activating co-chaperone,125aa) | g.1:156314497C>T,c.161C>T,p.S54L |
| TSACC(NM_144627,TSSK6 activating co-chaperone,125aa) | g.1:156314440T>G,c.104T>G,p.L35R |
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131079479T>G,c.268A>C,p.K90Q |
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131079470C>G,c.277G>C,p.V93L |
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131076155C>T,c.392G>A,p.R131H |