| 基因名 | 突变 |
|---|---|
| SLC35F1(NM_001029858,solute carrier family 35, member F1,408aa) | g.6:118635315C>A,c.1127C>A,p.P376H |
| SLC35F1(NM_001029858,solute carrier family 35, member F1,408aa) | g.6:118606358G>A,c.859G>A,p.V287I |
| SLC35F1(NM_001029858,solute carrier family 35, member F1,408aa) | g.6:118475619T>C,c.185T>C,p.I62T |
| SLC35E4(NM_001001479,solute carrier family 35, member E4,350aa) | g.22:31042978G>A,c.1013G>A,p.R338Q |
| SLC35E4(NM_001001479,solute carrier family 35, member E4,350aa) | g.22:31042974C>T,c.1009C>T,p.R337C |
| SLC35E4(NM_001001479,solute carrier family 35, member E4,350aa) | g.22:31042863C>T,c.898C>T,p.R300W |
| SLC35E4(NM_001001479,solute carrier family 35, member E4,350aa) | g.22:31042606G>A,c.641G>A,p.R214K |
| SLC35E4(NM_001001479,solute carrier family 35, member E4,350aa) | g.22:31032926G>T,c.489G>T,p.Q163H |
| SLC35E4(NM_001001479,solute carrier family 35, member E4,350aa) | g.22:31032909C>T,c.472C>T,p.R158C |
| SLC35E3(NM_018656,solute carrier family 35, member E3,313aa) | g.12:69158489A>G,c.761A>G,p.N254S |
| SLC35E3(NM_018656,solute carrier family 35, member E3,313aa) | g.12:69145831A>G,c.533A>G,p.H178R |
| SLC35E3(NM_018656,solute carrier family 35, member E3,313aa) | g.12:69140381C>T,c.224C>T,p.S75F |
| SLC35E3(NM_018656,solute carrier family 35, member E3,313aa) | g.12:69140339G>C,c.182G>C,p.C61S |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1670415C>T,c.404G>A,p.R135Q |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1669798G>A,c.548C>T,p.T183M |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1666251G>A,c.610C>T,p.R204W |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1666175C>T,c.686G>A,p.R229H |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1666167C>T,c.694G>A,p.V232I |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1663944G>A,c.751C>T,p.R251X |
| SLC35E2(NM_182838,solute carrier family 35, member E2,266aa) | g.1:1663938C>T,c.757G>A,p.A253T |
| SLC35E2B(NM_001110781,solute carrier family 35, member E2B,405aa) | g.1:1601170G>A,c.767C>T,p.P256L |
| SLC35E2B(NM_001110781,solute carrier family 35, member E2B,405aa) | g.1:1601104G>A,c.833C>T,p.T278M |
| SLC35E2B(NM_001110781,solute carrier family 35, member E2B,405aa) | g.1:1599812C>T,c.934G>A,p.V312I |
| SLC35E2B(NM_001110781,solute carrier family 35, member E2B,405aa) | g.1:1597444A>G,c.995T>C,p.V332A |
| SLC35E2B(NM_001110781,solute carrier family 35, member E2B,405aa) | g.1:1597403C>T,c.1036G>A,p.G346S |
| SLC35E2B(NM_001110781,solute carrier family 35, member E2B,405aa) | g.1:1597295C>T,c.1144G>A,p.A382T |
| SLC35E1(NM_024881,solute carrier family 35, member E1,410aa) | g.19:16677348C>T,c.751G>A,p.D251N |
| SLC35E1(NM_024881,solute carrier family 35, member E1,410aa) | g.19:16666033C>T,c.932G>A,p.R311H |