| 基因名 | 突变 |
|---|---|
| MLC1(NM_015166,megalencephalic leukoencephalopathy with subcortical cysts 1,377aa) | g.22:50523237G>A,c.95C>T,p.A32V |
| MLC1(NM_015166,megalencephalic leukoencephalopathy with subcortical cysts 1,377aa) | g.22:50515843C>A,c.512G>T,p.C171F |
| MLC1(NM_015166,megalencephalic leukoencephalopathy with subcortical cysts 1,377aa) | g.22:50512731C>T,c.628G>A,p.V210I |
| MLC1(NM_015166,megalencephalic leukoencephalopathy with subcortical cysts 1,377aa) | g.22:50512705G>T,c.654C>A,p.N218K |
| MLC1(NM_015166,megalencephalic leukoencephalopathy with subcortical cysts 1,377aa) | g.22:50502491T>C,c.1031A>G,p.N344S |
| MLC1(NM_015166,megalencephalic leukoencephalopathy with subcortical cysts 1,377aa) | g.22:50500032C>T,c.1114G>A,p.V372M |
| MLANA(NM_005511,melan-A,118aa) | g.9:5892552G>C,c.77+1G>C,p.26Donor |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28032292C>T,c.53G>A,p.G18E |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28032204G>T,c.141C>A,p.D47E |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28032166C>A,c.179G>T,p.R60L |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28024261T>C,c.391A>G,p.T131A |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28024177C>T,c.475G>A,p.V159I |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28023688C>T,c.535G>A,p.E179K |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28023682C>T,c.541G>A,p.G181S |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28023624G>A,c.599C>T,p.A200V |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:28023582G>C,c.641C>G,p.A214G |
| MKX(NM_173576,mohawk homeobox,352aa) | g.10:27964273G>T,c.944C>A,p.T315K |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56294089G>A,c.199C>T,p.R67C |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56294075G>C,c.213C>G,p.D71E |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56293543C>T,c.323G>A,p.R108H |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56293498C>T,c.368G>A,p.R123Q |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56292127G>A,c.490C>T,p.R164C |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56292126C>T,c.491G>A,p.R164H |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56291720C>T,c.544G>A,p.V182I |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56290438C>G,c.763G>C,p.G255R |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56290438C>A,c.763G>T,p.G255W |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56290390G>C,c.811C>G,p.H271D |
| MKS1(NM_017777,Meckel syndrome, type 1,559aa) | g.17:56290344T>C,c.857A>G,p.D286G |