| 基因名 | 突变 |
|---|---|
| NAGS(NM_153006,N-acetylglutamate synthase,534aa) | g.17:42082213A>G,c.182A>G,p.E61G |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5083685C>G,c.131G>C,p.R44P |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5081752C>G,c.676G>C,p.E226Q |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5078160C>T,c.947G>A,p.R316H |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5078125G>A,c.982C>T,p.R328C |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5078041C>T,c.1066G>A,p.G356S |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5075633G>A,c.1394C>T,p.T465I |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5075570T>C,c.1457A>G,p.Y486C |
| NAGPA(NM_016256,N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase,515aa) | g.16:5075526C>T,c.1501G>A,p.A501T |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40696233C>G,c.2209C>G,p.R737G |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40696233C>A,c.2209C>A,p.R737S |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40696188G>A,c.2164G>A,p.D722N |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695930G>A,c.1906G>A,p.D636N |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695867C>T,c.1843C>T,p.R615C |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695679C>T,c.1655C>T,p.T552I |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695586C>T,c.1562C>T,p.P521L |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695562A>G,c.1538A>G,p.N513S |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695520G>A,c.1496G>A,p.R499Q |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40695346C>T,c.1322C>T,p.T441M |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40690437G>T,c.612G>T,p.M204I |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40690367C>A,c.542C>A,p.A181D |
| NAGLU(NM_000263,N-acetylglucosaminidase, alpha,743aa) | g.17:40688460C>G,c.170C>G,p.A57G |
| NAGK(NM_017567,N-acetylglucosamine kinase,390aa) | g.2:71305638del,c.1173del,p.391fs |
| NAGK(NM_017567,N-acetylglucosamine kinase,390aa) | g.2:71305472G>A,c.1007G>A,p.G336D |
| NAGK(NM_017567,N-acetylglucosamine kinase,390aa) | g.2:71298831G>A,c.367G>A,p.G123S |
| NAGK(NM_017567,N-acetylglucosamine kinase,390aa) | g.2:71297944A>T,c.326A>T,p.D109V |
| NAGK(NM_017567,N-acetylglucosamine kinase,390aa) | g.2:71297928C>T,c.310C>T,p.R104W |
| NAGK(NM_017567,N-acetylglucosamine kinase,390aa) | g.2:71297922G>A,c.304G>A,p.A102T |