| 基因名 | 突变 |
|---|---|
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149359938C>G,c.782C>G,p.S261C |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149357444A>C,c.229A>C,p.N77H |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149357388G>A,c.173G>A,p.R58H |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149357241A>G,c.26A>G,p.H9R |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985431G>A,c.61C>T,p.R21C |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985418C>T,c.74G>A,p.R25Q |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985369G>C,c.123C>G,p.C41W |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985353G>A,c.139C>T,p.R47W |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985322G>A,c.170C>T,p.T57M |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985296G>A,c.196C>T,p.R66W |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985275C>T,c.217G>A,p.V73I |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:985076C>T,c.416G>A,p.R139Q |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:984957G>A,c.535C>T,p.R179C |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:984956C>T,c.536G>A,p.R179H |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:984938G>A,c.554C>T,p.T185M |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:984005C>T,c.722G>A,p.G241E |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983924G>A,c.803C>T,p.T268M |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983898C>T,c.829G>A,p.A277T |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983684A>G,c.1043T>C,p.L348P |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983625C>T,c.1102G>A,p.G368S |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983612C>T,c.1115G>A,p.R372H |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983483G>A,c.1244C>T,p.S415F |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983394C>T,c.1333G>A,p.V445I |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983342C>T,c.1385G>A,p.R462Q |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983216C>T,c.1511G>A,p.R504H |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983178C>T,c.1549G>A,p.G517R |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983115G>A,c.1612C>T,p.R538W |
| SLC26A1(NM_213613,solute carrier family 26 (anion exchanger), member 1,701aa) | g.4:983060T>C,c.1667A>G,p.Q556R |