| 基因名 | 突变 |
|---|---|
| SLC35B2(NM_178148,solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2,432aa) | g.6:44222664C>T,c.1078G>A,p.G360R |
| SLC35B2(NM_178148,solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2,432aa) | g.6:44222565C>T,c.1177G>A,p.V393M |
| SLC35B1(NM_005827,solute carrier family 35, member B1,359aa) | g.17:47785302C>T,c.5G>A,p.R2K |
| SLC35B1(NM_005827,solute carrier family 35, member B1,359aa) | g.17:47784374G>C,c.272C>G,p.T91S |
| SLC35B1(NM_005827,solute carrier family 35, member B1,359aa) | g.17:47783663C>T,c.353G>A,p.R118H |
| SLC35B1(NM_005827,solute carrier family 35, member B1,359aa) | g.17:47780295T>C,c.952A>G,p.I318V |
| SLC35A5(NM_017945,solute carrier family 35, member A5,424aa) | g.3:112300052C>T,c.1088C>T,p.A363V |
| SLC35A5(NM_017945,solute carrier family 35, member A5,424aa) | g.3:112299710A>G,c.746A>G,p.Y249C |
| SLC35A5(NM_017945,solute carrier family 35, member A5,424aa) | g.3:112299398G>A,c.434G>A,p.R145H |
| SLC35A5(NM_017945,solute carrier family 35, member A5,424aa) | g.3:112292769A>T,c.394A>T,p.I132L |
| SLC35A5(NM_017945,solute carrier family 35, member A5,424aa) | g.3:112292764G>A,c.389G>A,p.S130N |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139947520G>A,c.766G>A,p.V256M |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139947394C>T,c.640C>T,p.R214W |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139947248G>C,c.494G>C,p.G165A |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139946988del,c.234del,p.78fs |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139946953T>C,c.199T>C,p.F67L |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139946888G>A,c.134G>A,p.R45Q |
| SLC35A4(NM_080670,solute carrier family 35, member A4,324aa) | g.5:139946846G>T,c.92G>T,p.G31V |
| SLC35A3(NM_012243,solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3,325aa) | g.1:100459132G>A,c.22G>A,p.V8I |
| SLC35A2(NM_001042498,solute carrier family 35 (UDP-galactose transporter), member A2,393aa) | g.X:48768871G>T,c.43C>A,p.P15T |
| SLC35A1(NM_006416,solute carrier family 35 (CMP-sialic acid transporter), member A1,337aa) | g.6:88221237G>A,c.1007G>A,p.G336D |
| SLC35A1(NM_006416,solute carrier family 35 (CMP-sialic acid transporter), member A1,337aa) | g.6:88218282A>G,c.719A>G,p.Y240C |
| SLC35A1(NM_006416,solute carrier family 35 (CMP-sialic acid transporter), member A1,337aa) | g.6:88187196A>G,c.133A>G,p.T45A |
| SLC35A1(NM_006416,solute carrier family 35 (CMP-sialic acid transporter), member A1,337aa) | g.6:88182728G>T,c.7G>T,p.A3S |
| SLC34A3(NM_001177317,solute carrier family 34 (type II sodium/phosphate contransporter), member 3,599aa) | g.9:140130847C>G,c.1779C>G,p.I593M |
| SLC34A3(NM_001177317,solute carrier family 34 (type II sodium/phosphate contransporter), member 3,599aa) | g.9:140130833G>A,c.1765G>A,p.E589K |
| SLC34A3(NM_001177317,solute carrier family 34 (type II sodium/phosphate contransporter), member 3,599aa) | g.9:140130684C>T,c.1616C>T,p.P539L |
| SLC34A3(NM_001177317,solute carrier family 34 (type II sodium/phosphate contransporter), member 3,599aa) | g.9:140130681G>A,c.1613G>A,p.R538Q |