| 基因名 | 突变 |
|---|---|
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2127648G>A,c.2887G>A,p.V963M |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2127643C>T,c.2882C>T,p.P961L |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2126528_2126529insC,c.2779_2780insC,p.927fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2124321C>A,c.2476C>A,p.L826M |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2124236del,c.2391del,p.797fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2121870G>A,c.2032G>A,p.A678T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2121610G>A,c.1939G>A,p.D647N |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2121536G>A,c.1865G>A,p.R622Q |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2120559G>A,c.1819G>A,p.A607T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2120487G>A,c.1747G>A,p.A583T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2115529C>T,c.1609C>T,p.R537C |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2114343G>A,c.1514G>A,p.R505Q |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2112989G>A,c.1378G>A,p.A460T |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2110795G>A,c.1100G>A,p.R367Q |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2108787_2108788insT,c.888_889insT,p.296fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2108755A>G,c.856A>G,p.M286V |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2106756G>A,c.760G>A,p.E254K |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2106706C>T,c.710C>T,p.P237L |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2106669G>A,c.673G>A,p.V225M |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2106219C>T,c.622C>T,p.R208W |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2105449del,c.528del,p.176fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2104373del,c.413del,p.138fs |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2103442G>A,c.325G>A,p.V109M |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2103416C>T,c.299C>T,p.A100V |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2103398C>T,c.281C>T,p.P94L |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2103392A>T,c.275A>T,p.E92V |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2103389C>T,c.272C>T,p.P91L |
| TSC2(NM_000548,tuberous sclerosis 2,1807aa) | g.16:2103368C>T,c.251C>T,p.A84V |