| 基因名 | 突变 |
|---|---|
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78186067C>G,c.752G>C,p.G251A |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184711G>A,c.1049C>T,p.P350L |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184679C>T,c.1081G>A,p.V361I |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184601C>T,c.1159G>A,p.V387M |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184578C>A,c.1182G>T,p.M394I |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184550C>T,c.1210G>A,p.V404I |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184457G>A,c.1303C>T,p.R435C |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184432C>T,c.1328G>A,p.R443Q |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184393C>T,c.1367G>A,p.R456H |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78184310C>T,c.1450G>A,p.D484N |
| SGPP2(NM_152386,sphingosine-1-phosphate phosphatase 2,399aa) | g.2:223423135G>A,c.718G>A,p.D240N |
| SGPP2(NM_152386,sphingosine-1-phosphate phosphatase 2,399aa) | g.2:223423132A>G,c.715A>G,p.I239V |
| SGPP2(NM_152386,sphingosine-1-phosphate phosphatase 2,399aa) | g.2:223289380G>A,c.59G>A,p.R20H |
| SGPL1(NM_003901,sphingosine-1-phosphate lyase 1,568aa) | g.10:72631654G>A,c.970G>A,p.V324I |
| SGPL1(NM_003901,sphingosine-1-phosphate lyase 1,568aa) | g.10:72604263G>T,c.61G>T,p.V21L |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201440126C>T,c.3724C>T,p.R1242W |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201438497A>G,c.3428A>G,p.H1143R |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201438376G>A,c.3307G>A,p.V1103I |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201438266A>G,c.3197A>G,p.E1066G |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201438086C>T,c.3017C>T,p.A1006V |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201437817A>G,c.2748A>G,p.I916M |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201437550G>C,c.2481G>C,p.E827D |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201437048A>G,c.1979A>G,p.N660S |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201436555A>G,c.1486A>G,p.I496V |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201436400G>T,c.1331G>T,p.G444V |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201436124A>G,c.1055A>G,p.D352G |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201436078G>T,c.1009G>T,p.A337S |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201435848G>A,c.779G>A,p.R260H |