| 基因名 | 突变 |
|---|---|
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205887994C>T,c.2230G>A,p.V744M |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205887981T>C,c.2243A>G,p.H748R |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35980121C>T,c.217G>A,p.V73M |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35980078C>T,c.260G>A,p.R87Q |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35967772T>C,c.442A>G,p.I148V |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35960390C>T,c.689G>A,p.S230N |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35936704T>A,c.1315A>T,p.M439L |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35928846T>C,c.1492A>G,p.I498V |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35928624C>T,c.1634G>A,p.R545Q |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35927247G>A,c.1853C>T,p.P618L |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35923246T>C,c.1915A>G,p.I639V |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35922961C>T,c.2200G>A,p.V734M |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35922940C>T,c.2221G>A,p.V741I |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35918987C>T,c.2425G>A,p.D809N |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35918965C>T,c.2447G>A,p.R816Q |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35911951C>T,c.2639G>A,p.R880Q |
| SLC26A8(NM_052961,solute carrier family 26 (anion exchanger), member 8,970aa) | g.6:35911856G>A,c.2734C>T,p.P912S |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92401602A>C,c.1712A>C,p.Y571S |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92378880A>G,c.1561A>G,p.T521A |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92375732A>T,c.1454A>T,p.E485V |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92374659A>G,c.1393A>G,p.I465V |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92374629G>A,c.1363G>A,p.V455M |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92365184G>A,c.1274G>A,p.R425Q |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92355599C>T,c.1045C>T,p.L349F |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92346523A>G,c.643A>G,p.I215V |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92307854G>A,c.400G>A,p.V134M |
| SLC26A7(NM_001282356,solute carrier family 26 (anion exchanger), member 7,656aa) | g.8:92307797G>A,c.343G>A,p.V115M |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48671018C>T,c.11G>A,p.R4Q |