| 基因名 | 突变 |
|---|---|
| ENOSF1(NM_017512,enolase superfamily member 1,443aa) | g.18:683343G>A,c.779C>T,p.A260V |
| ENOSF1(NM_017512,enolase superfamily member 1,443aa) | g.18:675356del,c.1195del,p.399fs |
| ENOPH1(NM_021204,enolase-phosphatase 1,261aa) | g.4:83372386G>A,c.377G>A,p.R126H |
| ENOPH1(NM_021204,enolase-phosphatase 1,261aa) | g.4:83372208G>A,c.199G>A,p.A67T |
| ENO4(NM_001242699,enolase family member 4,625aa) | g.10:118641116T>C,c.1814T>C,p.L605P |
| ENO4(NM_001242699,enolase family member 4,625aa) | g.10:118635605C>G,c.1371C>G,p.H457Q |
| ENO4(NM_001242699,enolase family member 4,625aa) | g.10:118609160del,c.83del,p.28fs |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4860313C>T,c.1276C>T,p.R426C |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4859365G>A,c.994G>A,p.V332I |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4858731G>A,c.697G>A,p.A233T |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4857108G>A,c.412G>A,p.A138T |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4857022A>G,c.326A>G,p.N109S |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4856588_4856589insA,c.262_263insA,p.88fs |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4856580T>C,c.254T>C,p.V85A |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4856390G>C,c.226G>C,p.A76P |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4856376A>G,c.212A>G,p.N71S |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4855201C>A,c.77C>A,p.T26K |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4855188G>A,c.64G>A,p.V22M |
| ENO3(NM_001976,enolase 3 (beta, muscle),434aa) | g.17:4855170G>C,c.46G>C,p.G16R |
| ENO2(NM_001975,enolase 2 (gamma, neuronal),434aa) | g.12:7026786G>A,c.352G>A,p.V118M |
| ENO2(NM_001975,enolase 2 (gamma, neuronal),434aa) | g.12:7025874C>T,c.221C>T,p.A74V |
| ENO2(NM_001975,enolase 2 (gamma, neuronal),434aa) | g.12:7025589C>T,c.94C>T,p.R32W |
| ENO1(NM_001201483,enolase 1, (alpha),341aa) | g.1:8926475T>C,c.251A>G,p.N84S |
| ENO1(NM_001201483,enolase 1, (alpha),341aa) | g.1:8926474G>T,c.252C>A,p.N84K |
| ENO1(NM_001201483,enolase 1, (alpha),341aa) | g.1:8924017C>T,c.721G>A,p.E241K |
| ENO1(NM_001201483,enolase 1, (alpha),341aa) | g.1:8923382T>C,c.809A>G,p.N270S |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25288470A>T,c.83T>A,p.I28K |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25288415C>T,c.138G>A,p.M46I |