| 基因名 | 突变 |
|---|---|
| CPE(NM_001873,carboxypeptidase E,476aa) | g.4:166416765C>T,c.1268C>T,p.A423V |
| CPE(NM_001873,carboxypeptidase E,476aa) | g.4:166414386A>G,c.1177A>G,p.I393V |
| CPE(NM_001873,carboxypeptidase E,476aa) | g.4:166414347G>A,c.1138G>A,p.V380I |
| CPE(NM_001873,carboxypeptidase E,476aa) | g.4:166405652C>T,c.869C>T,p.P290L |
| CPE(NM_001873,carboxypeptidase E,476aa) | g.4:166300588C>T,c.215C>T,p.A72V |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120935615T>C,c.2990T>C,p.F997S |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120911462A>C,c.2846A>C,p.K949T |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120876835A>G,c.2123A>G,p.E708G |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120776097C>G,c.1652C>G,p.A551G |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120773935G>A,c.1636G>A,p.E546K |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120740134C>T,c.904C>T,p.R302C |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120740084G>A,c.854G>A,p.R285H |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120737810C>T,c.674C>T,p.P225L |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120737809C>T,c.673C>T,p.P225S |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120655885C>T,c.416C>T,p.P139L |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120629916A>G,c.241A>G,p.T81A |
| CPED1(NM_024913,cadherin-like and PC-esterase domain containing 1,1026aa) | g.7:120629698C>T,c.23C>T,p.P8L |
| CPEB3(NM_014912,cytoplasmic polyadenylation element binding protein 3,698aa) | g.10:93999956C>T,c.152G>A,p.S51N |
| CPEB3(NM_014912,cytoplasmic polyadenylation element binding protein 3,698aa) | g.10:93940771T>A,c.1171A>T,p.M391L |
| CPEB3(NM_014912,cytoplasmic polyadenylation element binding protein 3,698aa) | g.10:93811989C>T,c.2077G>A,p.V693I |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15009127A>G,c.1861A>G,p.T621A |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15008928G>C,c.1663-1G>C,p.555Acceptor |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15005604G>A,c.1307G>A,p.S436N |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15005408G>A,c.1111G>A,p.A371T |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15005228C>G,c.931C>G,p.P311A |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15004959C>A,c.662C>A,p.P221Q |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15004924_15004925insCCG,c.627_628insCCG,p.209_210ins1aa |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15004871G>C,c.574G>C,p.D192H |