| 基因名 | 突变 |
|---|---|
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116756773T>C,c.1142T>C,p.V381A |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116754599G>A,c.1004G>A,p.R335H |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116752290A>G,c.844A>G,p.I282V |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116720817C>T,c.404C>T,p.A135V |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116720772T>C,c.359T>C,p.I120T |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116720622G>A,c.209G>A,p.R70H |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116720523A>T,c.110A>T,p.N37I |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116720514C>T,c.101C>T,p.P34L |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116720487C>T,c.74C>T,p.T25I |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65181506C>T,c.370G>A,p.A124T |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65181221C>T,c.655G>A,p.E219K |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65181049T>C,c.827A>G,p.N276S |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65180987C>T,c.889G>A,p.V297I |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65180714T>C,c.1162A>G,p.T388A |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65180079C>G,c.1797G>C,p.R599S |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65180054C>G,c.1822G>C,p.V608L |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65179829G>A,c.2047C>T,p.P683S |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65179657T>C,c.2219A>G,p.Y740C |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65179594C>A,c.2282G>T,p.G761V |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65179506C>G,c.2370G>C,p.L790F |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65179022G>A,c.2854C>T,p.P952S |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65178608C>T,c.3268G>A,p.E1090K |
| DSEL(NM_032160,dermatan sulfate epimerase-like,1222aa) | g.18:65178238T>G,c.3638A>C,p.D1213A |
| DSCR4(NM_005867,Down syndrome critical region gene 4,118aa) | g.21:39493232G>A,c.118C>T,p.P40S |
| DSCR4(NM_005867,Down syndrome critical region gene 4,118aa) | g.21:39492443G>T,c.188C>A,p.P63Q |
| DSCR4(NM_005867,Down syndrome critical region gene 4,118aa) | g.21:39426966C>T,c.340G>A,p.A114T |
| DSCR3(NM_006052,Down syndrome critical region gene 3,297aa) | g.21:38600538C>T,c.644G>A,p.R215H |
| DSCR3(NM_006052,Down syndrome critical region gene 3,297aa) | g.21:38600084C>T,c.682G>A,p.D228N |