| 基因名 | 突变 |
|---|---|
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117310107C>T,c.4199G>A,p.R1400Q |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117308794C>T,c.4429G>A,p.V1477M |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117308649C>T,c.4574G>A,p.R1525H |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117308632C>T,c.4591G>A,p.E1531K |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117307909C>T,c.4829G>A,p.R1610H |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117301521C>T,c.5783G>A,p.R1928H |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117299414C>T,c.5972G>A,p.R1991Q |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117299273G>C,c.6113C>G,p.A2038G |
| DSCAML1(NM_020693,Down syndrome cell adhesion molecule like 1,2113aa) | g.11:117299079C>T,c.6307G>A,p.A2103T |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28612233G>T,c.79C>A,p.R27S |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28612232C>T,c.80G>A,p.R27H |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28612229G>T,c.83C>A,p.A28D |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28611139A>C,c.155-1T>G,p.52Acceptor |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28611100G>A,c.193C>T,p.R65W |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28611084T>A,c.209A>T,p.D70V |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28611061A>T,c.232T>A,p.S78T |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28610988C>T,c.305G>A,p.R102K |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28605818T>G,c.538A>C,p.K180Q |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28605748C>T,c.608G>A,p.R203H |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28604435C>T,c.655G>A,p.D219N |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28604407G>A,c.683C>T,p.P228L |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28604374T>C,c.716A>G,p.N239S |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28602426G>A,c.818C>T,p.P273L |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28602376T>C,c.868A>G,p.R290G |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28598091A>T,c.1209T>A,p.H403Q |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28588385A>C,c.1370T>G,p.L457W |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28588349G>A,c.1406C>T,p.P469L |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28586874A>T,c.1887T>A,p.N629K |