| 基因名 | 突变 |
|---|---|
| SLC46A3(NM_181785,solute carrier family 46, member 3,461aa) | g.13:29287552C>T,c.325G>A,p.V109I |
| SLC46A3(NM_181785,solute carrier family 46, member 3,461aa) | g.13:29278093C>G,c.1288G>C,p.A430P |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115652927T>G,c.35A>C,p.H12P |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115652463C>T,c.499G>A,p.G167S |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115652255G>C,c.707C>G,p.P236R |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115652193C>T,c.769G>A,p.D257N |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115651904A>G,c.1058T>C,p.I353T |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115651886C>G,c.1076G>C,p.G359A |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115651865G>A,c.1097C>T,p.A366V |
| SLC46A2(NM_033051,solute carrier family 46, member 2,475aa) | g.9:115642095C>T,c.1375G>A,p.V459M |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26732944C>A,c.189G>T,p.R63S |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26732939del,c.194del,p.65fs |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26727723A>T,c.1227-2T>A,p.409Acceptor |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26727722del,c.1227-1del,p.409Acceptordel |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26727722A>G,c.1227-1T>C,p.409Acceptor |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26727721G>A,c.1226+2C>T,p.409Donor |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26727719A>G,c.1229T>C,p.F410S |
| SLC46A1(NM_080669,solute carrier family 46 (folate transporter), member 1,459aa) | g.17:26726686G>A,c.1366C>T,p.P456S |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142231706C>T,c.247G>A,p.V83I |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142229913T>G,c.293A>C,p.D98A |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142229908G>C,c.298C>G,p.P100A |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142229904T>C,c.302A>G,p.N101S |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142229902G>A,c.304C>T,p.R102W |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228943C>T,c.643G>A,p.A215T |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228909G>A,c.677C>T,p.P226L |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228846G>A,c.740C>T,p.P247L |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228706G>C,c.880C>G,p.R294G |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228685C>T,c.901G>A,p.A301T |