| 基因名 | 突变 |
|---|---|
| CELF5(NM_001172673,CUGBP, Elav-like family member 5,409aa) | g.19:3275925del,c.466del,p.156fs |
| CELF4(NM_020180,CUGBP, Elav-like family member 4,486aa) | g.18:34852992C>G,c.936G>C,p.M312I |
| CELF4(NM_020180,CUGBP, Elav-like family member 4,486aa) | g.18:34850818C>T,c.1012G>A,p.V338M |
| CELF4(NM_020180,CUGBP, Elav-like family member 4,486aa) | g.18:34850784T>C,c.1046A>G,p.N349S |
| CELF3(NM_007185,CUGBP, Elav-like family member 3,465aa) | g.1:151679660G>A,c.883C>T,p.P295S |
| CELF2(NM_001025077,CUGBP, Elav-like family member 2,508aa) | g.10:11374575_11374610del,c.*3589+1del,p.3'UTRDonordel |
| CELF2(NM_001025077,CUGBP, Elav-like family member 2,508aa) | g.10:11330462A>G,c.902A>G,p.N301S |
| CELF2(NM_001025077,CUGBP, Elav-like family member 2,508aa) | g.10:11047400T>C,c.50T>C,p.L17S |
| CELF1(NM_001172640,CUGBP, Elav-like family member 1,485aa) | g.11:47505049C>A,c.478G>T,p.A160S |
| CELF1(NM_001172640,CUGBP, Elav-like family member 1,485aa) | g.11:47500458T>C,c.731A>G,p.N244S |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22313103C>G,c.722C>G,p.A241G |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22310811G>A,c.629G>A,p.R210H |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22310809C>G,c.627C>G,p.I209M |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22310807A>G,c.625A>G,p.I209V |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22310306G>A,c.482G>A,p.G161D |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22310239G>A,c.415G>A,p.V139I |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22310215C>T,c.391C>T,p.R131C |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22307572G>T,c.269G>T,p.R90L |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22307568G>A,c.265G>A,p.D89N |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22307542C>A,c.239C>A,p.T80N |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22307538C>T,c.235C>T,p.R79W |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22304948G>A,c.129+1G>A,p.43Donor |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22304909A>C,c.91A>C,p.N31H |
| CELA3B(NM_007352,chymotrypsin-like elastase family, member 3B,270aa) | g.1:22303572G>A,c.40G>A,p.V14I |
| CELA3A(NM_005747,chymotrypsin-like elastase family, member 3A,270aa) | g.1:22336277C>G,c.722C>G,p.A241G |
| CELA3A(NM_005747,chymotrypsin-like elastase family, member 3A,270aa) | g.1:22333988T>G,c.622T>G,p.Y208D |
| CELA3A(NM_005747,chymotrypsin-like elastase family, member 3A,270aa) | g.1:22333489G>A,c.481G>A,p.G161S |
| CELA3A(NM_005747,chymotrypsin-like elastase family, member 3A,270aa) | g.1:22333468A>G,c.460A>G,p.K154E |