| 基因名 | 突变 |
|---|---|
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242757574C>T,c.655C>T,p.R219C |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242756338G>A,c.451G>A,p.V151M |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242756317G>A,c.430G>A,p.E144K |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242756160C>G,c.273C>G,p.H91Q |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242755868G>C,c.187G>C,p.G63R |
| NEU4(NM_001167602,sialidase 4,484aa) | g.2:242755694C>T,c.13C>T,p.R5C |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74717217A>C,c.1066A>C,p.T356P |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74717011C>T,c.860C>T,p.A287V |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74716983C>T,c.832C>T,p.R278W |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74716935G>A,c.784G>A,p.A262T |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74716737C>G,c.586C>G,p.P196A |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74716666G>C,c.515G>C,p.S172T |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74716515C>T,c.364C>T,p.P122S |
| NEU3(NM_006656,sialidase 3 (membrane sialidase),461aa) | g.11:74705602G>A,c.143G>A,p.R48Q |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233899193C>T,c.569C>T,p.P190L |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233899168C>T,c.544C>T,p.R182W |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233899126C>A,c.502C>A,p.H168N |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233898953C>T,c.329C>T,p.T110M |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233897503G>A,c.122G>A,p.R41Q |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233897502C>T,c.121C>T,p.R41W |
| NEU2(NM_005383,sialidase 2 (cytosolic sialidase),380aa) | g.2:233897414C>A,c.33C>A,p.S11R |
| NEU1(NM_000434,sialidase 1 (lysosomal sialidase),415aa) | g.6:31829865C>G,c.263G>C,p.G88A |
| NETO2(NM_018092,neuropilin (NRP) and tolloid (TLL)-like 2,525aa) | g.16:47162475C>T,c.242G>A,p.R81H |
| NETO2(NM_018092,neuropilin (NRP) and tolloid (TLL)-like 2,525aa) | g.16:47156609C>T,c.613G>A,p.V205I |
| NETO2(NM_018092,neuropilin (NRP) and tolloid (TLL)-like 2,525aa) | g.16:47117373C>T,c.1337G>A,p.S446N |
| NETO2(NM_018092,neuropilin (NRP) and tolloid (TLL)-like 2,525aa) | g.16:47117347T>G,c.1363A>C,p.S455R |
| NETO1(NM_138966,neuropilin (NRP) and tolloid (TLL)-like 1,533aa) | g.18:70532471C>T,c.34G>A,p.A12T |
| NETO1(NM_138966,neuropilin (NRP) and tolloid (TLL)-like 1,533aa) | g.18:70526193T>C,c.337A>G,p.I113V |