| 基因名 | 突变 |
|---|---|
| DSCR3(NM_006052,Down syndrome critical region gene 3,297aa) | g.21:38600008A>C,c.758T>G,p.V253G |
| DSCR3(NM_006052,Down syndrome critical region gene 3,297aa) | g.21:38599958C>T,c.808G>A,p.V270M |
| DSCC1(NM_024094,DNA replication and sister chromatid cohesion 1,393aa) | g.8:120859235A>C,c.572T>G,p.I191S |
| DSCC1(NM_024094,DNA replication and sister chromatid cohesion 1,393aa) | g.8:120855939T>A,c.626A>T,p.H209L |
| DSCC1(NM_024094,DNA replication and sister chromatid cohesion 1,393aa) | g.8:120847188T>C,c.1127A>G,p.H376R |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41725630G>C,c.696C>G,p.D232E |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41725625C>T,c.701G>A,p.R234H |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41725503C>T,c.823G>A,p.V275M |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41725475C>T,c.851G>A,p.R284H |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41725407G>A,c.919C>T,p.R307C |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41668074C>T,c.2090G>A,p.R697Q |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41561063C>A,c.2459G>T,p.R820L |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41457647G>C,c.4014C>G,p.I1338M |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41457618G>A,c.4043C>T,p.T1348M |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41450851C>T,c.4474G>A,p.V1492M |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41450777A>C,c.4548T>G,p.F1516L |
| DSCAM(NM_001389,Down syndrome cell adhesion molecule,2012aa) | g.21:41423968G>A,c.5102C>T,p.T1701M |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117667923C>A,c.52G>T,p.A18S |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117403235G>T,c.694C>A,p.H232N |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117395610C>T,c.1027G>A,p.D343N |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117392079C>T,c.1159G>A,p.G387S |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117391995C>A,c.1243G>T,p.V415L |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117374602C>T,c.2497G>A,p.V833I |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117352857G>A,c.2560C>T,p.H854Y |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117335805C>T,c.3298G>A,p.V1100M |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117329596T>C,c.3622A>G,p.T1208A |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117321348C>G,c.3805G>C,p.V1269L |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117314620T>C,c.4024A>G,p.I1342V |