| 基因名 | 突变 |
|---|---|
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48670991G>A,c.38C>T,p.P13L |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48669776G>A,c.424C>T,p.P142S |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48669775G>A,c.425C>T,p.P142L |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48669724C>T,c.476G>A,p.R159Q |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48669447C>T,c.553G>A,p.V185M |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48669186C>T,c.736G>A,p.V246M |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48667894C>T,c.1240G>A,p.E414K |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48666132C>G,c.1552G>C,p.G518R |
| SLC26A6(NM_001040454,solute carrier family 26 (anion exchanger), member 6,738aa) | g.3:48664473C>T,c.1846G>A,p.D616N |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103062016T>C,c.-53-2A>G,p.5'UTRAcceptor |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103061825A>G,c.137T>C,p.L46P |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103050840C>T,c.727G>A,p.V243M |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103033496T>C,c.989A>G,p.N330S |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103030943C>A,c.1244G>T,p.C415F |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103018979T>C,c.1699A>G,p.I567V |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103018183G>A,c.1849C>T,p.P617S |
| SLC26A5(NM_198999,solute carrier family 26 (anion exchanger), member 5,744aa) | g.7:103018158A>T,c.1874T>A,p.F625Y |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107353031A>G,c.2283A>G,p.T761T |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107350577A>G,c.2168A>G,p.H723R |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107350548T>G,c.2139T>G,p.I713M |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107342477T>C,c.2009T>C,p.V670A |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107342451C>A,c.1983C>A,p.D661E |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107342443G>C,c.1975G>C,p.V659L |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107342294T>G,c.1826T>G,p.V609G |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107341628T>C,c.1790T>C,p.L597S |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107335087A>T,c.1363A>T,p.I455F |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107330665A>C,c.1246A>C,p.T416P |
| SLC26A4(NM_000441,solute carrier family 26 (anion exchanger), member 4,780aa) | g.7:107330648C>T,c.1229C>T,p.T410M |