| 基因名 | 突变 |
|---|---|
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240944686C>G,c.831G>C,p.K277N |
| NDUFA10(NM_004544,NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa,355aa) | g.2:240944672G>A,c.845C>T,p.P282L |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115997451A>T,c.742T>A,p.S248T |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115997346T>C,c.847A>G,p.I283V |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115997246T>A,c.947A>T,p.E316V |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115898360C>G,c.1049G>C,p.G350A |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115891701C>T,c.1106G>A,p.R369Q |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115858587G>C,c.1294C>G,p.Q432E |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115792064G>A,c.1579C>T,p.R527C |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115769485G>A,c.1826C>T,p.A609V |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115760640C>T,c.2180G>A,p.G727E |
| NDST4(NM_022569,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4,872aa) | g.4:115750969T>G,c.2476A>C,p.K826Q |
| NDST3(NM_004784,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3,873aa) | g.4:119174652A>G,c.2400-2A>G,p.800Acceptor |
| NDST3(NM_004784,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3,873aa) | g.4:119059317A>G,c.1333A>G,p.K445E |
| NDST3(NM_004784,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3,873aa) | g.4:119035992T>G,c.1101T>G,p.C367W |
| NDST3(NM_004784,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3,873aa) | g.4:118975673G>A,c.608G>A,p.R203H |
| NDST3(NM_004784,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3,873aa) | g.4:118975269G>A,c.204G>A,p.M68I |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75568122G>A,c.25C>T,p.R9C |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75567671C>T,c.476G>A,p.R159Q |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75567632del,c.515del,p.172fs |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75567374C>T,c.773G>A,p.R258H |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75567371C>T,c.776G>A,p.R259Q |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75566917C>G,c.1042G>C,p.V348L |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75566874T>C,c.1085A>G,p.Y362C |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75566540T>C,c.1123A>G,p.M375V |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75565704C>T,c.1517G>A,p.R506Q |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75565434T>A,c.1657A>T,p.T553S |
| NDST2(NM_003635,N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2,883aa) | g.10:75563667G>C,c.1951C>G,p.H651D |