| 基因名 | 突变 |
|---|---|
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15004655G>A,c.358G>A,p.D120N |
| CPEB2(NM_001177382,cytoplasmic polyadenylation element binding protein 2,1034aa) | g.4:15004499C>T,c.202C>T,p.P68S |
| CPEB1(NM_030594,cytoplasmic polyadenylation element binding protein 1,561aa) | g.15:83316612G>A,c.10C>T,p.P4S |
| CPEB1(NM_030594,cytoplasmic polyadenylation element binding protein 1,561aa) | g.15:83296073C>T,c.61G>A,p.A21T |
| CPEB1(NM_030594,cytoplasmic polyadenylation element binding protein 1,561aa) | g.15:83240261G>C,c.212C>G,p.T71R |
| CPEB1(NM_030594,cytoplasmic polyadenylation element binding protein 1,561aa) | g.15:83240235T>C,c.238A>G,p.T80A |
| CPEB1(NM_030594,cytoplasmic polyadenylation element binding protein 1,561aa) | g.15:83226725G>A,c.391C>T,p.L131F |
| CPEB1(NM_030594,cytoplasmic polyadenylation element binding protein 1,561aa) | g.15:83221297G>A,c.1133C>T,p.P378L |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28791734C>T,c.4045C>T,p.R1349C |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28791672A>G,c.3983A>G,p.N1328S |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28783346A>T,c.3410A>T,p.Q1137L |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28772755A>G,c.2590A>G,p.I864V |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28770862G>A,c.2416G>A,p.G806S |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28749880A>G,c.1496A>G,p.K499R |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28749793C>G,c.1409C>G,p.T470R |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28748718A>G,c.1174A>G,p.I392V |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28747937C>T,c.1073C>T,p.P358L |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28706114C>T,c.116C>T,p.A39V |
| CPD(NM_001304,carboxypeptidase D,1380aa) | g.17:28706012G>T,c.14G>T,p.R5L |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46661938G>C,c.92C>G,p.A31G |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46658462G>A,c.167C>T,p.P56L |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46658397C>T,c.232G>A,p.D78N |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46656637T>C,c.323A>G,p.N108S |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46648094C>T,c.505G>A,p.A169T |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46648069T>C,c.530A>G,p.D177G |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46638842G>A,c.737C>T,p.A246V |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46632343G>A,c.970C>T,p.R324X |
| CPB2(NM_001872,carboxypeptidase B2 (plasma),423aa) | g.13:46629944A>G,c.1040T>C,p.I347T |