| 基因名 | 突变 |
|---|---|
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145741702C>G,c.801G>C,p.E267D |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145741602C>T,c.901G>A,p.E301K |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145741460T>C,c.1043A>G,p.H348R |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145741388C>G,c.1115G>C,p.R372T |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145740375C>T,c.1565G>A,p.R522H |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145739905G>A,c.1625C>T,p.S542F |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145739581C>T,c.1870G>A,p.V624I |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145739416C>T,c.1954G>A,p.V652M |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145739086G>A,c.2069C>T,p.T690M |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145739024C>T,c.2131G>A,p.E711K |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145739011C>T,c.2144G>A,p.R715Q |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738839C>A,c.2226G>T,p.E742D |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738808G>A,c.2257C>T,p.R753W |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738805G>A,c.2260C>T,p.R754W |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738768G>C,c.2297-1C>G,p.766Acceptor |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738768del,c.2297-1del,p.766Acceptordel |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738726G>A,c.2338C>T,p.R780W |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738669C>T,c.2395G>A,p.V799M |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738630C>T,c.2434G>A,p.A812T |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738383C>T,c.2602G>A,p.V868M |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738349G>T,c.2636C>A,p.P879H |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145738229C>T,c.2755+1G>A,p.919Donor |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737820G>A,c.3010C>T,p.R1004W |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737816C>T,c.3014G>A,p.R1005Q |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737705C>T,c.3058G>A,p.V1020M |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737701C>T,c.3062G>A,p.R1021Q |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737630C>T,c.3133G>A,p.A1045T |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737620T>C,c.3143A>G,p.K1048R |