| 基因名 | 突变 |
|---|---|
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29135815G>A,c.307C>T,p.P103S |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29132279A>G,c.502T>C,p.Y168H |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29111946T>C,c.703A>G,p.I235V |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29103771G>C,c.1043C>G,p.T348S |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29070320C>T,c.1193G>A,p.R398H |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29070262del,c.1251del,p.417fs |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29070209G>A,c.1304C>T,p.A435V |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29035489G>A,c.1330C>T,p.R444X |
| CPVL(NM_019029,carboxypeptidase, vitellogenic-like,476aa) | g.7:29035428C>T,c.1391G>A,p.R464Q |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53679229A>G,c.1939A>G,p.M647V |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676980A>C,c.1634A>C,p.E545A |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676865G>A,c.1519G>A,p.V507I |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676593A>G,c.1247A>G,p.N416S |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676448G>A,c.1102G>A,p.V368I |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676401T>G,c.1055T>G,p.F352C |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676394C>T,c.1048C>T,p.R350C |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53676199G>A,c.853G>A,p.E285K |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53675923C>T,c.577C>T,p.R193C |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53675725G>A,c.379G>A,p.V127I |
| CPT2(NM_000098,carnitine palmitoyltransferase 2,658aa) | g.1:53675711C>T,c.365C>T,p.S122F |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50216050C>A,c.2077C>A,p.L693M |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50215114G>A,c.1915G>A,p.A639T |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50212071G>T,c.1541G>T,p.R514L |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50209247G>A,c.1046G>A,p.R349Q |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50209175G>A,c.974G>A,p.R325H |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50200664C>T,c.223C>T,p.L75F |
| CPT1C(NM_001199752,carnitine palmitoyltransferase 1C,803aa) | g.19:50200598G>A,c.157G>A,p.G53S |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51015838T>C,c.196A>G,p.I66V |