| 基因名 | 突变 |
|---|---|
| TBX2(NM_005994,T-box 2,712aa) | g.17:59482065C>A,c.986C>A,p.P329H |
| TBX22(NM_001109878,T-box 22,520aa) | g.X:79286216C>A,c.1169C>A,p.A390D |
| TBX22(NM_001109878,T-box 22,520aa) | g.X:79281202G>A,c.559G>A,p.E187K |
| TBX22(NM_001109878,T-box 22,520aa) | g.X:79279657G>T,c.452G>T,p.R151L |
| TBX21(NM_013351,T-box 21,535aa) | g.17:45822149C>T,c.1025C>T,p.P342L |
| TBX21(NM_013351,T-box 21,535aa) | g.17:45822139A>G,c.1015A>G,p.I339V |
| TBX21(NM_013351,T-box 21,535aa) | g.17:45811146C>G,c.326C>G,p.A109G |
| TBX21(NM_013351,T-box 21,535aa) | g.17:45810919C>G,c.99C>G,p.H33Q |
| TBX20(NM_001077653,T-box 20,447aa) | g.7:35289756C>T,c.187G>A,p.A63T |
| TBX20(NM_001077653,T-box 20,447aa) | g.7:35244154G>A,c.931C>T,p.R311C |
| TBX20(NM_001077653,T-box 20,447aa) | g.7:35242077G>A,c.1309C>T,p.R437C |
| TBX1(NM_080647,T-box 1,495aa) | g.22:19754091A>C,c.1189A>C,p.N397H |
| TBX1(NM_080647,T-box 1,495aa) | g.22:19753444G>A,c.928G>A,p.G310S |
| TBX1(NM_080647,T-box 1,495aa) | g.22:19750816G>A,c.463G>A,p.D155N |
| TBX1(NM_080647,T-box 1,495aa) | g.22:19748696_19748698del,c.303_305del,p.101_102del |
| TBX19(NM_005149,T-box 19,448aa) | g.1:168262430C>T,c.517C>T,p.R173C |
| TBX18(NM_001080508,T-box 18,607aa) | g.6:85473758C>T,c.142G>A,p.G48R |
| TBX18(NM_001080508,T-box 18,607aa) | g.6:85457739C>T,c.838G>A,p.D280N |
| TBX18(NM_001080508,T-box 18,607aa) | g.6:85457709C>T,c.868G>A,p.G290R |
| TBX18(NM_001080508,T-box 18,607aa) | g.6:85448268C>T,c.1046G>A,p.R349Q |
| TBX18(NM_001080508,T-box 18,607aa) | g.6:85448221_85448222insG,c.1092_1093insC,p.364fs |
| TBX18(NM_001080508,T-box 18,607aa) | g.6:85446768T>C,c.1459A>G,p.M487V |
| TBX15(NM_152380,T-box 15,496aa) | g.1:119469188G>T,c.148C>A,p.H50N |
| TBX15(NM_152380,T-box 15,496aa) | g.1:119469161T>G,c.175A>C,p.I59L |
| TBX15(NM_152380,T-box 15,496aa) | g.1:119466168A>G,c.434T>C,p.F145S |
| TBX15(NM_152380,T-box 15,496aa) | g.1:119466142G>C,c.460C>G,p.P154A |
| TBX15(NM_152380,T-box 15,496aa) | g.1:119441695C>T,c.662G>A,p.R221H |
| TBX15(NM_152380,T-box 15,496aa) | g.1:119427687G>C,c.1159C>G,p.P387A |