| 基因名 | 突变 |
|---|---|
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73658806C>T,c.524G>A,p.R175H |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73658785C>T,c.545G>A,p.R182H |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73658723C>T,c.607G>A,p.V203M |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73658614T>C,c.716A>G,p.Y239C |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73627696C>T,c.1282G>A,p.A428T |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73627666T>C,c.1312A>G,p.T438A |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73627650C>T,c.1328G>A,p.R443Q |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73627539T>C,c.1439A>G,p.D480G |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73627242C>T,c.1536G>A,p.M512I |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73626918_73626919insTG,c.1586-1insCA,p.529Acceptorins |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73626335C>T,c.1741G>A,p.V581M |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625852C>T,c.1883G>A,p.S628N |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625543G>A,c.1960C>T,p.R654W |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625509G>A,c.1994C>T,p.P665L |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625417G>A,c.2086C>T,p.R696W |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625357C>T,c.2146G>A,p.V716I |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625270G>A,c.2233C>T,p.R745W |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625179G>A,c.2324C>T,p.P775L |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73625059G>A,c.2444C>T,p.S815L |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73624465C>T,c.2638G>A,p.V880I |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73624353T>G,c.2750A>C,p.N917T |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73623542C>T,c.2936G>A,p.S979N |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145742850T>C,c.161A>G,p.Q54R |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145742799T>C,c.212A>G,p.E71G |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145742514A>G,c.274T>C,p.S92P |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145742480G>A,c.308C>T,p.P103L |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145741787G>A,c.716C>T,p.A239V |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145741748G>A,c.755C>T,p.P252L |