| 基因名 | 突变 |
|---|---|
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188884G>A,c.269G>A,p.R90H |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188883C>T,c.268C>T,p.R90C |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188752G>A,c.137G>A,p.G46D |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188743C>T,c.128C>T,p.A43V |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188703C>T,c.88C>T,p.R30C |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188688C>T,c.73C>T,p.L25F |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610580T>G,c.986T>G,p.I329S |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610570C>T,c.976C>T,p.R326W |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610490T>A,c.896T>A,p.F299Y |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610468A>G,c.874A>G,p.M292V |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610382C>A,c.788C>A,p.T263N |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610366G>A,c.772G>A,p.A258T |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610349G>A,c.755G>A,p.S252N |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610332G>T,c.738G>T,p.L246F |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610163G>T,c.569G>T,p.G190V |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610163G>C,c.569G>C,p.G190A |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610162G>A,c.568G>A,p.G190S |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610121G>A,c.527G>A,p.G176E |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610118C>G,c.524C>G,p.P175R |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610073G>A,c.479G>A,p.C160Y |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610052T>C,c.458T>C,p.V153A |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610042G>A,c.448G>A,p.E150K |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610024A>G,c.430A>G,p.I144V |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610012G>A,c.418G>A,p.V140I |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11610001A>G,c.407A>G,p.H136R |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11609994C>T,c.400C>T,p.R134C |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11609949T>C,c.355T>C,p.Y119H |
| SLC35G4(NM_001282300,solute carrier family 35, member G4,338aa) | g.18:11609916G>A,c.322G>A,p.A108T |