| 基因名 | 突变 |
|---|---|
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12531372A>G,c.73A>G,p.I25V |
| TSEN15(NM_052965,TSEN15 tRNA splicing endonuclease subunit,171aa) | g.1:184023529A>C,c.177A>C,p.Q59H |
| TSEN15(NM_052965,TSEN15 tRNA splicing endonuclease subunit,171aa) | g.1:184020945G>A,c.56G>A,p.G19D |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138600G>A,c.5413G>A,p.E1805K |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138570C>T,c.5383C>T,p.R1795C |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138546G>A,c.5359G>A,p.G1787S |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138499C>T,c.5312C>T,p.P1771L |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138325del,c.5258del,p.1753fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138319G>A,c.5252G>A,p.R1751H |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2138269T>G,c.5202T>G,p.D1734E |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2136806del,c.4923del,p.1641fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2135023A>G,c.4565A>G,p.N1522S |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2134982_2134984del,c.4524_4526del,p.1508_1509del |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2134508G>T,c.4285G>T,p.A1429S |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2134418G>A,c.4195G>A,p.G1399R |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2134268G>A,c.4045G>A,p.A1349T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2133798G>A,c.3986G>A,p.R1329H |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2133726C>T,c.3914C>T,p.P1305L |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2133701G>A,c.3889G>A,p.A1297T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2131788G>A,c.3803G>A,p.R1268H |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2130344del,c.3576del,p.1192fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2130325A>G,c.3557A>G,p.Y1186C |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2130243C>T,c.3475C>T,p.R1159W |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2130190C>T,c.3422C>T,p.A1141V |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2130189G>A,c.3421G>A,p.A1141T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2130165del,c.3398-1del,p.1133Acceptordel |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2129399_2129400insG,c.3254_3255insG,p.1085fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2129166G>A,c.3100G>A,p.V1034I |