NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)
|
rs749013429
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-2A>G
|
rs1275029034
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1002-2A>G
|
|
|
NM_000441.2(SLC26A4):c.1002-4C>G
|
rs2129315781
|
|
NM_000441.2(SLC26A4):c.1002del
|
|
|
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)
|
rs111033212
|
|
NM_000441.2(SLC26A4):c.1150-1G>T
|
rs1791525285
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
|
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
|
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
|
|
|
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)
|
rs1584292992
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)
|
rs1791686622
|
|
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
|
|
|
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
|
|
|
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
|
|
|
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
|
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.1614+1del
|
|
|
NM_000441.2(SLC26A4):c.1615-1G>T
|
|
|
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
|
|
|
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
|
|
|
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
|
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1707+4_1707+7del
|
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
|
|
|
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
|
|
|
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
|
|
|
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs)
|
rs1584337134
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)
|
rs2129318299
|
|
NM_000441.2(SLC26A4):c.2035-2A>C
|
|
|
NM_000441.2(SLC26A4):c.2035-2A>G
|
|
|
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
|
|
|
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
|
|
|
NM_000441.2(SLC26A4):c.2089+1G>T
|
|
|
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
|
|
|
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
|
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)
|
rs2129309208
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
|
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
|
|
|
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
|
|
|
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
|
|
|
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
|
|
|
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
|
|
|
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
|
|
|
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)
|
rs750365180
|
|
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
|
|
|