| 基因名 | 突变 |
|---|---|
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26817764G>C,c.561G>C,p.W187C |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26817443C>T,c.350C>T,p.P117L |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26816259C>T,c.130C>T,p.L44F |
| SLC13A2(NM_001145975,solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2,641aa) | g.17:26800821G>A,c.91G>A,p.V31I |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122839967G>A,c.34C>T,p.R12X |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122821122C>T,c.133G>A,p.A45T |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122811871T>C,c.316A>G,p.K106E |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122809303G>T,c.452C>A,p.A151E |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122809276T>C,c.479A>G,p.N160S |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122809234T>C,c.521A>G,p.N174S |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122769473A>G,c.995T>C,p.V332A |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122769443G>T,c.1025C>A,p.P342Q |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122768936G>C,c.1096C>G,p.P366A |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122765662C>T,c.1201G>A,p.A401T |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122757532A>G,c.1643T>C,p.I548T |
| SLC13A1(NM_022444,solute carrier family 13 (sodium/sulfate symporter), member 1,595aa) | g.7:122755609G>A,c.1751C>T,p.S584L |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100463839G>A,c.2357G>A,p.R786Q |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100463802C>A,c.2320C>A,p.P774T |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100463775C>T,c.2293C>T,p.R765W |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100459100C>T,c.1430C>T,p.A477V |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100459091G>A,c.1421G>A,p.S474N |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100457578T>C,c.1049T>C,p.I350T |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100457539G>A,c.1010G>A,p.R337H |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100456489G>A,c.790G>A,p.V264M |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100454796G>A,c.755G>A,p.G252D |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100454739C>T,c.698C>T,p.P233L |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100454724A>G,c.683A>G,p.N228S |
| SLC12A9(NM_020246,solute carrier family 12, member 9,914aa) | g.7:100454534G>A,c.493G>A,p.G165S |