| 基因名 | 突变 |
|---|---|
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43311054G>A,c.394G>A,p.V132I |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43310415G>A,c.298G>A,p.E100K |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43310313G>A,c.196G>A,p.V66M |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43307246C>T,c.10C>T,p.R4W |
| SLC13A5(NM_177550,solute carrier family 13 (sodium-dependent citrate transporter), member 5,568aa) | g.17:6607245C>T,c.499G>A,p.E167K |
| SLC13A5(NM_177550,solute carrier family 13 (sodium-dependent citrate transporter), member 5,568aa) | g.17:6606403C>T,c.602G>A,p.R201Q |
| SLC13A5(NM_177550,solute carrier family 13 (sodium-dependent citrate transporter), member 5,568aa) | g.17:6599180C>T,c.920G>A,p.R307Q |
| SLC13A5(NM_177550,solute carrier family 13 (sodium-dependent citrate transporter), member 5,568aa) | g.17:6599145C>T,c.955G>A,p.V319M |
| SLC13A5(NM_177550,solute carrier family 13 (sodium-dependent citrate transporter), member 5,568aa) | g.17:6594244C>T,c.1291G>A,p.V431M |
| SLC13A4(NM_012450,solute carrier family 13 (sodium/sulfate symporter), member 4,626aa) | g.7:135376382C>T,c.1232G>A,p.R411H |
| SLC13A4(NM_012450,solute carrier family 13 (sodium/sulfate symporter), member 4,626aa) | g.7:135376041G>A,c.1351C>T,p.P451S |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45242313C>T,c.22G>A,p.E8K |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45242291G>A,c.44C>T,p.T15M |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45242145G>A,c.190C>T,p.R64X |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45221106A>G,c.716T>C,p.M239T |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45221055C>G,c.767G>C,p.G256A |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45194945C>T,c.1276G>A,p.V426M |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45188833C>T,c.1496G>A,p.R499Q |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45188713T>C,c.1616A>G,p.N539S |
| SLC13A3(NM_001011554,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3,555aa) | g.20:45188671C>T,c.1658G>A,p.R553Q |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26824156A>G,c.1795A>G,p.I599V |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26823570G>A,c.1720G>A,p.V574I |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26822793G>A,c.1576G>A,p.V526M |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26821457C>T,c.1382C>T,p.T461M |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26821090C>T,c.1300C>T,p.P434S |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26820719G>A,c.1156G>A,p.V386I |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26818553G>A,c.820G>A,p.V274M |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26818479C>T,c.746C>T,p.T249M |