| 基因名 | 突变 |
|---|---|
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386178T>C,c.875T>C,p.V292A |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386153G>A,c.850G>A,p.A284T |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386114A>G,c.811A>G,p.S271G |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386090G>A,c.787G>A,p.A263T |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386055C>T,c.752C>T,p.P251L |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385895G>A,c.592G>A,p.V198M |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385871G>A,c.568G>A,p.A190T |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385751G>A,c.448G>A,p.E150K |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385709G>C,c.406G>C,p.G136R |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385703C>T,c.400C>T,p.R134C |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385682G>A,c.379G>A,p.A127T |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385665C>T,c.362C>T,p.A121V |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385661A>G,c.358A>G,p.S120G |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385617A>G,c.314A>G,p.Y105C |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7385454G>A,c.151G>A,p.A51T |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189591C>T,c.976C>T,p.R326W |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189535T>C,c.920T>C,p.L307P |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189529T>C,c.914T>C,p.V305A |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189513A>G,c.898A>G,p.M300V |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189379G>T,c.764G>T,p.C255F |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189316G>C,c.701G>C,p.C234S |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189184C>T,c.569C>T,p.T190I |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189142G>A,c.527G>A,p.G176E |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189033G>A,c.418G>A,p.V140I |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189021G>C,c.406G>C,p.G136R |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11189015C>T,c.400C>T,p.R134C |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188922T>C,c.307T>C,p.W103R |
| SLC35G5(NM_054028,solute carrier family 35, member G5,338aa) | g.8:11188916C>T,c.301C>T,p.R101X |