| 基因名 | 突变 |
|---|---|
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98129944C>T,c.2791G>A,p.V931M |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98127968T>G,c.2925A>C,p.E975D |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98127931G>A,c.2962C>T,p.R988C |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:167020647G>A,c.2875G>A,p.A959T |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:167020644A>G,c.2872A>G,p.T958A |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:167020514G>C,c.2742G>C,p.Q914H |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166996111G>A,c.2270G>A,p.R757H |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166978363G>A,c.1748G>A,p.R583H |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166978362C>T,c.1747C>T,p.R583C |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166935679A>G,c.1009A>G,p.I337V |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166935662G>A,c.992G>A,p.R331H |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166915629C>T,c.458C>T,p.T153M |
| TLL1(NM_012464,tolloid-like 1,1013aa) | g.4:166795123G>C,c.67G>C,p.G23R |
| TLK2(NM_006852,tousled-like kinase 2,750aa) | g.17:60685475T>C,c.2045T>C,p.F682S |
| TLK1(NM_012290,tousled-like kinase 1,766aa) | g.2:171913040T>C,c.490A>G,p.I164V |
| TLK1(NM_012290,tousled-like kinase 1,766aa) | g.2:171910351T>C,c.652A>G,p.M218V |
| TLK1(NM_012290,tousled-like kinase 1,766aa) | g.2:171871416C>T,c.1279G>A,p.V427I |
| TLE6(NM_001143986,transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila),572aa) | g.19:2994946C>T,c.1663C>T,p.R555C |
| TLE6(NM_001143986,transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila),572aa) | g.19:2994071C>T,c.1592C>T,p.P531L |
| TLE6(NM_001143986,transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila),572aa) | g.19:2993562G>A,c.1519G>A,p.V507I |
| TLE6(NM_001143986,transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila),572aa) | g.19:2989123A>G,c.805A>G,p.K269E |
| TLE6(NM_001143986,transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila),572aa) | g.19:2987898C>T,c.628C>T,p.P210S |
| TLE6(NM_001143986,transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila),572aa) | g.19:2987012C>T,c.317C>T,p.T106M |
| TLE4(NM_007005,transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila),773aa) | g.9:82337885G>A,c.2149G>A,p.V717I |
| TLE4(NM_007005,transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila),773aa) | g.9:82324592A>G,c.1318A>G,p.T440A |
| TLE4(NM_007005,transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila),773aa) | g.9:82267611G>C,c.494G>C,p.S165T |
| TLE4(NM_007005,transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila),773aa) | g.9:82187750A>G,c.44+1A>G,p.15Donor |
| TLE3(NM_005078,transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila),772aa) | g.15:70349857C>T,c.1201G>A,p.A401T |