| 基因名 | 突变 |
|---|---|
| MORC1(NM_014429,MORC family CW-type zinc finger 1,984aa) | g.3:108698497A>G,c.2342T>C,p.M781T |
| MORC1(NM_014429,MORC family CW-type zinc finger 1,984aa) | g.3:108690221G>A,c.2506C>T,p.H836Y |
| MORC1(NM_014429,MORC family CW-type zinc finger 1,984aa) | g.3:108677910C>T,c.2857G>A,p.E953K |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62979252A>C,c.4662A>C,p.E1554D |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62965292T>G,c.4228T>G,p.S1410A |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62965244C>T,c.4180C>T,p.L1394F |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62959137A>G,c.3937A>G,p.I1313V |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62954636A>G,c.3559A>G,p.I1187V |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62954505T>C,c.3428T>C,p.I1143T |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62954457T>C,c.3380T>C,p.I1127T |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62946905C>T,c.2945C>T,p.A982V |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62946748G>A,c.2788G>A,p.E930K |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62946739A>C,c.2779A>C,p.K927Q |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62938748G>T,c.2321G>T,p.G774V |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62938729A>G,c.2302A>G,p.T768A |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62928633G>A,c.1426G>A,p.A476T |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62926409A>G,c.1376A>G,p.Q459R |
| MON2(NM_001278472,MON2 homolog (S. cerevisiae),1645aa) | g.12:62919735A>G,c.1037A>G,p.N346S |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77232159C>G,c.1598C>G,p.T533S |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77229475C>T,c.1339C>T,p.R447W |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77228841C>T,c.1085C>T,p.A362V |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77228375G>A,c.619G>A,p.A207T |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77227387C>T,c.188C>T,p.P63L |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77225440G>T,c.58G>T,p.D20Y |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77225438A>G,c.56A>G,p.E19G |
| MON1B(NM_014940,MON1 secretory trafficking family member B,547aa) | g.16:77225417C>G,c.35C>G,p.P12R |
| MON1A(NM_032355,MON1 secretory trafficking family member A,652aa) | g.3:49949430C>T,c.433G>A,p.G145S |
| MON1A(NM_032355,MON1 secretory trafficking family member A,652aa) | g.3:49947766T>C,c.1456A>G,p.T486A |