| 基因名 | 突变 |
|---|---|
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2100429A>G,c.167A>G,p.N56S |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2098635del,c.19del,p.7fs |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100075390G>A,c.272C>T,p.T91M |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100075369C>T,c.293G>A,p.R98Q |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100075358G>A,c.304C>T,p.P102S |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100075112G>A,c.550C>T,p.P184S |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100075040G>A,c.622C>T,p.R208W |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100072044C>T,c.782G>A,p.R261H |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100064710G>A,c.1060C>T,p.R354W |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100064709C>T,c.1061G>A,p.R354Q |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100064658G>A,c.1112C>T,p.P371L |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100064620G>A,c.1150C>T,p.R384W |
| TSC22D4(NM_030935,TSC22 domain family, member 4,395aa) | g.7:100064587C>T,c.1183G>A,p.V395I |
| TSC22D3(NM_198057,TSC22 domain family, member 3,200aa) | g.X:107018385T>C,c.265A>G,p.I89V |
| TSC22D3(NM_198057,TSC22 domain family, member 3,200aa) | g.X:106957880G>A,c.472C>T,p.R158C |
| TSC22D3(NM_198057,TSC22 domain family, member 3,200aa) | g.X:106957879C>T,c.473G>A,p.R158H |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128839G>T,c.1702G>T,p.A568S |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128822C>G,c.1685C>G,p.A562G |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128626G>A,c.1489G>A,p.G497S |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128551C>T,c.1414C>T,p.P472S |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128453C>T,c.1316C>T,p.P439L |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128450C>T,c.1313C>T,p.A438V |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128392G>A,c.1255G>A,p.A419T |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150128161C>T,c.1024C>T,p.P342S |
| TSC22D2(NM_014779,TSC22 domain family, member 2,780aa) | g.3:150127948G>A,c.811G>A,p.V271I |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45150189T>C,c.22A>G,p.T8A |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45149201T>C,c.1010A>G,p.N337S |
| TSC22D1(NM_183422,TSC22 domain family, member 1,1073aa) | g.13:45148866_45148868del,c.1343_1345del,p.448_449del |