| 基因名 | 突变 |
|---|---|
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107329617A>G,c.1121A>G,p.K374R |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107329499T>C,c.1003T>C,p.F335L |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107323901C>T,c.920C>T,p.T307M |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107323898A>G,c.919-2A>G,p.307Acceptor |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107314665G>A,c.472G>A,p.D158N |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107314656A>G,c.463A>G,p.M155V |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107303812G>A,c.236G>A,p.R79Q |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107303801C>G,c.225C>G,p.L75L |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107302103G>T,c.17G>T,p.G6V |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107434921C>A,c.34G>T,p.A12S |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107434255C>T,c.203G>A,p.R68Q |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107434217T>C,c.241A>G,p.I81V |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107432362C>T,c.295G>A,p.D99N |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107432300G>T,c.357C>A,p.F119L |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107431533G>A,c.530C>T,p.A177V |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107430114C>T,c.590G>A,p.R197Q |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107427322A>C,c.921T>G,p.C307W |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107416913C>T,c.1661G>A,p.R554Q |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107416902C>T,c.1672G>A,p.D558N |
| SLC26A3(NM_000111,solute carrier family 26 (anion exchanger), member 3,764aa) | g.7:107415259C>T,c.1736G>A,p.R579Q |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149361221A>T,c.2065A>T,p.T689S |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149361113T>A,c.1957T>A,p.C653S |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149360900C>T,c.1744C>T,p.R582C |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149360877T>C,c.1721T>C,p.I574T |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149360668G>A,c.1512G>A,p.M504I |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149360630C>T,c.1474C>T,p.R492W |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149360202T>A,c.1046T>A,p.F349Y |
| SLC26A2(NM_000112,solute carrier family 26 (anion exchanger), member 2,739aa) | g.5:149359992G>A,c.836G>A,p.R279Q |