NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
NM_000441.2(SLC26A4):c.1002-9A>C
|
rs10234822
|
0.01002
|
NM_000441.2(SLC26A4):c.1438-14A>G
|
rs79531981
|
0.00882
|
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)
|
rs77407094
|
0.00782
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_000441.2(SLC26A4):c.416-13T>C
|
rs77553387
|
0.00455
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)
|
rs35045430
|
0.00378
|
NM_000441.2(SLC26A4):c.601-17C>T
|
rs78330939
|
0.00296
|
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)
|
rs146348818
|
0.00293
|
NM_000441.2(SLC26A4):c.1545-5T>G
|
rs77944876
|
0.00234
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)
|
rs114473792
|
0.00116
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000441.2(SLC26A4):c.*69C>A
|
rs76894072
|
0.00061
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_000441.1(SLC26A4):c.-60A>G
|
rs545973091
|
0.00034
|
NM_000441.2(SLC26A4):c.1614+7A>G
|
rs199643344
|
0.00034
|
NM_000441.2(SLC26A4):c.1614+8C>T
|
rs370184422
|
0.00032
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_000441.2(SLC26A4):c.1001+30A>G
|
rs556184448
|
0.00026
|
NM_000441.2(SLC26A4):c.2236-25T>A
|
rs2301634
|
0.00026
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_000441.2(SLC26A4):c.2236-15G>A
|
rs372776461
|
0.00021
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=)
|
rs761139326
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000441.2(SLC26A4):c.919-18T>G
|
rs767147359
|
0.00017
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000441.2(SLC26A4):c.1804-6G>A
|
rs377713770
|
0.00016
|
NM_000441.2(SLC26A4):c.2089+9A>G
|
rs369504960
|
0.00016
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_000441.2(SLC26A4):c.1995A>C (p.Ile665=)
|
rs185493402
|
0.00015
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_000441.2(SLC26A4):c.858G>A (p.Lys286=)
|
rs746111836
|
0.00013
|
NM_000441.2(SLC26A4):c.90C>G (p.Leu30=)
|
rs566715839
|
0.00013
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)
|
rs150597240
|
0.00010
|
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)
|
rs201709908
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
NM_000441.2(SLC26A4):c.574C>T (p.Leu192=)
|
rs375838548
|
0.00009
|
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)
|
rs375716219
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)
|
rs372116042
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=)
|
rs140918297
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.2035-7T>C
|
rs779474317
|
0.00006
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met)
|
rs144691257
|
0.00006
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
NM_000441.2(SLC26A4):c.1965C>T (p.Ile655=)
|
rs151176078
|
0.00005
|
NM_000441.2(SLC26A4):c.532A>C (p.Thr178Pro)
|
rs369429214
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000441.2(SLC26A4):c.873G>A (p.Arg291=)
|
rs776517641
|
0.00005
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=)
|
rs778271465
|
0.00004
|
NM_000441.2(SLC26A4):c.1455G>A (p.Thr485=)
|
rs551888561
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000441.2(SLC26A4):c.1545-6T>C
|
rs1197838386
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_000441.2(SLC26A4):c.322C>T (p.Leu108=)
|
rs374545905
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000441.2(SLC26A4):c.708A>G (p.Leu236=)
|
rs748961362
|
0.00004
|
NM_000441.2(SLC26A4):c.840C>T (p.Val280=)
|
rs759467038
|
0.00004
|
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=)
|
rs770874403
|
0.00004
|
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)
|
rs886061885
|
0.00003
|
NM_000441.2(SLC26A4):c.111G>A (p.Glu37=)
|
rs767024317
|
0.00003
|
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)
|
rs747431002
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_000441.2(SLC26A4):c.1545-7del
|
rs727503427
|
0.00003
|
NM_000441.2(SLC26A4):c.1590C>T (p.Tyr530=)
|
rs771384229
|
0.00003
|
NM_000441.2(SLC26A4):c.1677C>T (p.Val559=)
|
rs774173683
|
0.00003
|
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=)
|
rs573894071
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2292G>A (p.Thr764=)
|
rs139556627
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.599del (p.Gln200fs)
|
rs1385727683
|
0.00003
|
NM_000441.2(SLC26A4):c.601-5C>T
|
rs546450643
|
0.00003
|
NM_000441.2(SLC26A4):c.69G>T (p.Ser23=)
|
rs531634168
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000441.2(SLC26A4):c.1001G>A (p.Gly334Glu)
|
rs146281367
|
0.00002
|
NM_000441.2(SLC26A4):c.1149+3A>G
|
rs111033314
|
0.00002
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.1751C>T (p.Ala584Val)
|
rs749479853
|
0.00002
|
NM_000441.2(SLC26A4):c.1752G>A (p.Ala584=)
|
rs771015634
|
0.00002
|
NM_000441.2(SLC26A4):c.183C>T (p.Ala61=)
|
rs778574810
|
0.00002
|
NM_000441.2(SLC26A4):c.1860T>C (p.Asp620=)
|
rs761173579
|
0.00002
|
NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala)
|
rs745546618
|
0.00002
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.2007C>T (p.Asp669=)
|
rs749013429
|
0.00002
|
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)
|
rs200712253
|
0.00002
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000441.2(SLC26A4):c.2220T>A (p.Gly740=)
|
rs758972845
|
0.00002
|
NM_000441.2(SLC26A4):c.2334T>G (p.Leu778=)
|
rs1432427878
|
0.00002
|
NM_000441.2(SLC26A4):c.411A>T (p.Ser137=)
|
rs1444214882
|
0.00002
|
NM_000441.2(SLC26A4):c.426A>T (p.Pro142=)
|
rs555657762
|
0.00002
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
NM_000441.2(SLC26A4):c.627A>G (p.Gly209=)
|
rs777384642
|
0.00002
|
NM_000441.2(SLC26A4):c.855T>A (p.Val285=)
|
rs779096628
|
0.00002
|
NM_000441.2(SLC26A4):c.1029G>A (p.Val343=)
|
rs1224284451
|
0.00001
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1113T>C (p.Tyr371=)
|
rs944464820
|
0.00001
|
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)
|
rs148425972
|
0.00001
|
NM_000441.2(SLC26A4):c.1137C>T (p.Ile379=)
|
rs779717335
|
0.00001
|
NM_000441.2(SLC26A4):c.1143G>A (p.Gly381=)
|
rs147114101
|
0.00001
|
NM_000441.2(SLC26A4):c.1149+9G>T
|
rs772631152
|
0.00001
|
NM_000441.2(SLC26A4):c.1150-1G>A
|
rs1791525285
|
0.00001
|
NM_000441.2(SLC26A4):c.1150-9C>T
|
rs780920429
|
0.00001
|
NM_000441.2(SLC26A4):c.1160C>A (p.Ala387Asp)
|
rs777333979
|
0.00001
|
NM_000441.2(SLC26A4):c.1215T>C (p.Thr405=)
|
rs1332330407
|
0.00001
|
NM_000441.2(SLC26A4):c.1224C>T (p.Ser408=)
|
rs750467891
|
0.00001
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=)
|
rs747564818
|
0.00001
|
NM_000441.2(SLC26A4):c.1264-15G>A
|
rs996058305
|
0.00001
|
NM_000441.2(SLC26A4):c.1299C>T (p.Ile433=)
|
rs397516415
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1342-10C>T
|
rs727503426
|
0.00001
|
NM_000441.2(SLC26A4):c.1342-6T>C
|
rs780173327
|
0.00001
|
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=)
|
rs768687579
|
0.00001
|
NM_000441.2(SLC26A4):c.135G>T (p.Thr45=)
|
rs756029600
|
0.00001
|
NM_000441.2(SLC26A4):c.1437+19A>G
|
rs780233505
|
0.00001
|
NM_000441.2(SLC26A4):c.1437+7C>A
|
rs559614118
|
0.00001
|
NM_000441.2(SLC26A4):c.1445G>C (p.Trp482Ser)
|
rs774182356
|
0.00001
|
NM_000441.2(SLC26A4):c.1463T>A (p.Val488Glu)
|
rs773614117
|
0.00001
|
NM_000441.2(SLC26A4):c.1506T>C (p.Leu502=)
|
rs992910854
|
0.00001
|
NM_000441.2(SLC26A4):c.150G>C (p.Leu50=)
|
rs1033372874
|
0.00001
|
NM_000441.2(SLC26A4):c.1531C>T (p.Leu511=)
|
rs778788894
|
0.00001
|
NM_000441.2(SLC26A4):c.1544+10G>A
|
rs770325004
|
0.00001
|
NM_000441.2(SLC26A4):c.1584T>C (p.Asp528=)
|
rs751218077
|
0.00001
|
NM_000441.2(SLC26A4):c.1608C>T (p.Tyr536=)
|
rs181882513
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-8A>T
|
rs1342451342
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1698C>T (p.Ile566=)
|
rs111033375
|
0.00001
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-14A>G
|
rs1453109539
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-5C>T
|
rs749299147
|
0.00001
|
NM_000441.2(SLC26A4):c.1709T>C (p.Val570Ala)
|
rs775256637
|
0.00001
|
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
|
rs111033200
|
0.00001
|
NM_000441.2(SLC26A4):c.1726A>G (p.Arg576Gly)
|
rs1264502726
|
0.00001
|
NM_000441.2(SLC26A4):c.1782T>C (p.Ser594=)
|
rs1791876280
|
0.00001
|
NM_000441.2(SLC26A4):c.1785A>G (p.Gly595=)
|
rs1791876361
|
0.00001
|
NM_000441.2(SLC26A4):c.1803+10C>T
|
rs776169470
|
0.00001
|
NM_000441.2(SLC26A4):c.1804-7C>T
|
rs1298895017
|
0.00001
|
NM_000441.2(SLC26A4):c.1804-9T>C
|
rs746917249
|
0.00001
|
NM_000441.2(SLC26A4):c.1806T>C (p.Asn602=)
|
rs761625957
|
0.00001
|
NM_000441.2(SLC26A4):c.1821T>C (p.Asp607=)
|
rs1242369967
|
0.00001
|
NM_000441.2(SLC26A4):c.1827T>G (p.Val609=)
|
rs201446262
|
0.00001
|
NM_000441.2(SLC26A4):c.1887C>A (p.Ile629=)
|
rs757528850
|
0.00001
|
NM_000441.2(SLC26A4):c.1890A>G (p.Pro630=)
|
rs1791899090
|
0.00001
|
NM_000441.2(SLC26A4):c.1893C>A (p.Thr631=)
|
rs750606900
|
0.00001
|
NM_000441.2(SLC26A4):c.1917T>C (p.Asp639=)
|
rs773019481
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs)
|
rs1271700356
|
0.00001
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.201T>G (p.Thr67=)
|
rs773835233
|
0.00001
|
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=)
|
rs909072667
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.2067T>C (p.Asn689=)
|
rs774645749
|
0.00001
|
NM_000441.2(SLC26A4):c.2070G>A (p.Val690=)
|
rs374686650
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2199G>A (p.Val733=)
|
rs748146381
|
0.00001
|
NM_000441.2(SLC26A4):c.21G>A (p.Arg7=)
|
rs929239906
|
0.00001
|
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser)
|
rs1057517303
|
0.00001
|
NM_000441.2(SLC26A4):c.2229A>G (p.Leu743=)
|
rs755270319
|
0.00001
|
NM_000441.2(SLC26A4):c.2310C>G (p.Val770=)
|
rs768404882
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-4A>C
|
rs727503432
|
0.00001
|
NM_000441.2(SLC26A4):c.2322T>C (p.Ala774=)
|
rs1328894191
|
0.00001
|
NM_000441.2(SLC26A4):c.234C>T (p.Tyr78=)
|
rs763984769
|
0.00001
|
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)
|
rs200706874
|
0.00001
|
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)
|
rs1554352718
|
0.00001
|
NM_000441.2(SLC26A4):c.288A>C (p.Leu96=)
|
rs1790622297
|
0.00001
|
NM_000441.2(SLC26A4):c.297G>A (p.Thr99=)
|
rs397516429
|
0.00001
|
NM_000441.2(SLC26A4):c.304+10T>C
|
rs1314120776
|
0.00001
|
NM_000441.2(SLC26A4):c.312A>C (p.Ala104=)
|
rs754540558
|
0.00001
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
NM_000441.2(SLC26A4):c.339C>T (p.Val113=)
|
rs780236833
|
0.00001
|
NM_000441.2(SLC26A4):c.33G>T (p.Pro11=)
|
rs549105797
|
0.00001
|
NM_000441.2(SLC26A4):c.349del (p.Leu117fs)
|
rs1275009555
|
0.00001
|
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro)
|
rs121908365
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)
|
rs759268252
|
0.00001
|
NM_000441.2(SLC26A4):c.415+7A>G
|
rs765884316
|
0.00001
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
0.00001
|
NM_000441.2(SLC26A4):c.45G>A (p.Glu15=)
|
rs748026717
|
0.00001
|
NM_000441.2(SLC26A4):c.471C>T (p.Pro157=)
|
rs557892300
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_000441.2(SLC26A4):c.488T>C (p.Val163Ala)
|
rs779009430
|
0.00001
|
NM_000441.2(SLC26A4):c.510A>G (p.Val170=)
|
rs1012979539
|
0.00001
|
NM_000441.2(SLC26A4):c.567C>G (p.Ala189=)
|
rs1790959451
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.601-4G>A
|
rs376952657
|
0.00001
|
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)
|
rs773602319
|
0.00001
|
NM_000441.2(SLC26A4):c.684C>G (p.Ala228=)
|
rs763221035
|
0.00001
|
NM_000441.2(SLC26A4):c.704A>G (p.Gln235Arg)
|
rs752485540
|
0.00001
|
NM_000441.2(SLC26A4):c.755C>T (p.Ser252Phe)
|
rs375433525
|
0.00001
|
NM_000441.2(SLC26A4):c.765+7del
|
rs779833787
|
0.00001
|
NM_000441.2(SLC26A4):c.765+8T>C
|
rs938669246
|
0.00001
|
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=)
|
rs552050976
|
0.00001
|
NM_000441.2(SLC26A4):c.819T>C (p.Thr273=)
|
rs1160800485
|
0.00001
|
NM_000441.2(SLC26A4):c.81C>T (p.Tyr27=)
|
rs867562094
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly)
|
rs1446406563
|
0.00001
|
NM_000441.2(SLC26A4):c.879A>G (p.Arg293=)
|
rs1791302530
|
0.00001
|
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=)
|
rs765095794
|
0.00001
|
NM_000441.2(SLC26A4):c.903T>C (p.Pro301=)
|
rs1282512549
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=)
|
rs765644650
|
0.00001
|
NM_000441.2(SLC26A4):c.948A>C (p.Gly316=)
|
rs876657583
|
0.00001
|
NC_000007.13:g.(?_107301201)_(107303890_?)del
|
|
|
NC_000007.13:g.(?_107301201)_(107315564_?)del
|
|
|
NC_000007.13:g.(?_107301201)_(107324012_?)del
|
|
|
NC_000007.13:g.(?_107303728)_(107303890_?)del
|
|
|
NC_000007.13:g.(?_107303728)_(107312703_?)del
|
|
|
NC_000007.13:g.(?_107312573)_(107315564_?)del
|
|
|
NC_000007.13:g.(?_107314599)_(107315564_?)del
|
|
|
NC_000007.13:g.(?_107329488)_(107353077_?)dup
|
|
|
NC_000007.13:g.(?_107332383)_(107336443_?)del
|
|
|
NC_000007.13:g.(?_107334836)_(107335171_?)del
|
|
|
NC_000007.13:g.(?_107334836)_(107342512_?)del
|
|
|
NC_000007.13:g.(?_107336368)_(107355960_?)del
|
|
|
NC_000007.13:g.(?_107342252)_(107353087_?)del
|
|
|
NC_000007.14:g.(?_107660756)_(107661815_?)del
|
|
|
NC_000007.14:g.(?_107674154)_(107683567_?)dup
|
|
|
NC_000007.14:g.(?_107694391)_(107696049_?)del
|
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
NM_000441.2(SLC26A4):c.1001+10G>C
|
|
|
NM_000441.2(SLC26A4):c.1001+11T>C
|
|
|
NM_000441.2(SLC26A4):c.1001+15C>T
|
|
|
NM_000441.2(SLC26A4):c.1001+1G>C
|
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001+2T>A
|
rs2129314581
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1002-17A>C
|
|
|
NM_000441.2(SLC26A4):c.1002-17A>T
|
|
|
NM_000441.2(SLC26A4):c.1002del
|
|
|
NM_000441.2(SLC26A4):c.1011del (p.Pro338fs)
|
rs2129315787
|
|
NM_000441.2(SLC26A4):c.1014T>G (p.Pro338=)
|
rs1791494484
|
|
NM_000441.2(SLC26A4):c.1017A>G (p.Glu339=)
|
rs1791494658
|
|
NM_000441.2(SLC26A4):c.1027G>C (p.Val343Leu)
|
|
|
NM_000441.2(SLC26A4):c.1034T>A (p.Leu345Ter)
|
|
|
NM_000441.2(SLC26A4):c.1038C>G (p.Phe346Leu)
|
|
|
NM_000441.2(SLC26A4):c.1041G>A (p.Ser347=)
|
|
|
NM_000441.2(SLC26A4):c.1041G>T (p.Ser347=)
|
|
|
NM_000441.2(SLC26A4):c.1042G>T (p.Glu348Ter)
|
|
|
NM_000441.2(SLC26A4):c.1048C>T (p.Leu350=)
|
|
|
NM_000441.2(SLC26A4):c.1052C>G (p.Ala351Gly)
|
|
|
NM_000441.2(SLC26A4):c.1053T>C (p.Ala351=)
|
|
|
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs)
|
rs2129315801
|
|
NM_000441.2(SLC26A4):c.1058C>G (p.Ser353Ter)
|
|
|
NM_000441.2(SLC26A4):c.105G>A (p.Gln35=)
|
rs2129308738
|
|
NM_000441.2(SLC26A4):c.1065C>A (p.Ser355=)
|
rs2129315802
|
|
NM_000441.2(SLC26A4):c.1083T>C (p.Tyr361=)
|
rs2129315811
|
|
NM_000441.2(SLC26A4):c.1092A>C (p.Ala364=)
|
rs2129315815
|
|
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)
|
rs371544695
|
|
NM_000441.2(SLC26A4):c.1101A>G (p.Val367=)
|
rs774874269
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1119C>G (p.Thr373=)
|
rs1791501741
|
|
NM_000441.2(SLC26A4):c.1131C>A (p.Tyr377Ter)
|
rs2129315827
|
|
NM_000441.2(SLC26A4):c.1134C>T (p.Thr378=)
|
|
|
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)
|
rs1374999656
|
|
NM_000441.2(SLC26A4):c.1149+10C>G
|
rs2129315838
|
|
NM_000441.2(SLC26A4):c.1149+16T>G
|
|
|
NM_000441.2(SLC26A4):c.1149+20G>C
|
|
|
NM_000441.2(SLC26A4):c.1149+7G>A
|
|
|
NM_000441.2(SLC26A4):c.1150-1G>C
|
|
|
NM_000441.2(SLC26A4):c.1150-1G>T
|
rs1791525285
|
|
NM_000441.2(SLC26A4):c.1152A>G (p.Glu384=)
|
rs2129316003
|
|
NM_000441.2(SLC26A4):c.1155C>T (p.Phe385=)
|
|
|
NM_000441.2(SLC26A4):c.1159G>T (p.Ala387Ser)
|
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)
|
rs1554358720
|
|
NM_000441.2(SLC26A4):c.1171A>C (p.Ser391Arg)
|
rs1791526034
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)
|
rs777008062
|
|
NM_000441.2(SLC26A4):c.117C>T (p.Arg39=)
|
rs1790561361
|
|
NM_000441.2(SLC26A4):c.1181del (p.Phe394fs)
|
|
|
NM_000441.2(SLC26A4):c.1185A>C (p.Ser395=)
|
|
|
NM_000441.2(SLC26A4):c.1194C>T (p.Phe398=)
|
rs1584325099
|
|
NM_000441.2(SLC26A4):c.1194_1198del (p.Phe398fs)
|
rs2129316011
|
|
NM_000441.2(SLC26A4):c.1197T>C (p.Ser399=)
|
rs2129316013
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1206G>T (p.Val402=)
|
|
|
NM_000441.2(SLC26A4):c.1212C>A (p.Thr404=)
|
rs2129316019
|
|
NM_000441.2(SLC26A4):c.1215T>G (p.Thr405=)
|
|
|
NM_000441.2(SLC26A4):c.1216_1220del (p.Ala406fs)
|
|
|
NM_000441.2(SLC26A4):c.1221T>C (p.Leu407=)
|
|
|
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)
|
rs886043058
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1228A>G (p.Thr410Ala)
|
rs1286976213
|
|
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys)
|
rs111033220
|
|
NM_000441.2(SLC26A4):c.1230G>C (p.Thr410=)
|
|
|
NM_000441.2(SLC26A4):c.1233C>A (p.Ala411=)
|
|
|
NM_000441.2(SLC26A4):c.1233C>G (p.Ala411=)
|
rs766572560
|
|
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)
|
rs111033527
|
|
NM_000441.2(SLC26A4):c.1237C>T (p.Gln413Ter)
|
|
|
NM_000441.2(SLC26A4):c.1238A>C (p.Gln413Pro)
|
|
|
NM_000441.2(SLC26A4):c.1238A>T (p.Gln413Leu)
|
|
|
NM_000441.2(SLC26A4):c.1259C>T (p.Thr420Ile)
|
|
|
NM_000441.2(SLC26A4):c.1263+11C>T
|
|
|
NM_000441.2(SLC26A4):c.1263+12A>G
|
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+20G>A
|
|
|
NM_000441.2(SLC26A4):c.1263+20del
|
|
|
NM_000441.2(SLC26A4):c.1264-15GT[3]
|
|
|
NM_000441.2(SLC26A4):c.1264-16G>A
|
|
|
NM_000441.2(SLC26A4):c.1264-17A>T
|
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1264-4C>T
|
rs1488973035
|
|
NM_000441.2(SLC26A4):c.1264-7C>T
|
|
|
NM_000441.2(SLC26A4):c.1270G>C (p.Gly424Arg)
|
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.1272C>T (p.Gly424=)
|
|
|
NM_000441.2(SLC26A4):c.1277T>A (p.Ile426Asn)
|
rs375540945
|
|
NM_000441.2(SLC26A4):c.1278C>T (p.Ile426=)
|
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1305T>C (p.Ile435=)
|
rs1299422209
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)
|
rs1584292992
|
|
NM_000441.2(SLC26A4):c.1312C>T (p.Leu438=)
|
rs2129316901
|
|
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
|
|
|
NM_000441.2(SLC26A4):c.1316_1317dup (p.Lys440fs)
|
|
|
NM_000441.2(SLC26A4):c.132G>A (p.Lys44=)
|
|
|
NM_000441.2(SLC26A4):c.1335G>A (p.Leu445=)
|
rs1355468475
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1341+11G>T
|
|
|
NM_000441.2(SLC26A4):c.1341+12C>T
|
|
|
NM_000441.2(SLC26A4):c.1341+15_1341+17del
|
|
|
NM_000441.2(SLC26A4):c.1341+17C>G
|
|
|
NM_000441.2(SLC26A4):c.1341+18T>G
|
|
|
NM_000441.2(SLC26A4):c.1341+1G>A
|
rs376653349
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
NM_000441.2(SLC26A4):c.1341+7C>G
|
|
|
NM_000441.2(SLC26A4):c.1341+9C>T
|
|
|
NM_000441.2(SLC26A4):c.1342-12C>T
|
|
|
NM_000441.2(SLC26A4):c.1342-13TC[2]
|
|
|
NM_000441.2(SLC26A4):c.1342-14G>A
|
|
|
NM_000441.2(SLC26A4):c.1342-18C>G
|
|
|
NM_000441.2(SLC26A4):c.1342-1G>A
|
|
|
NM_000441.2(SLC26A4):c.1342-4G>A
|
|
|
NM_000441.2(SLC26A4):c.1342-7T>C
|
|
|
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)
|
rs747076316
|
|
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)
|
rs1791686622
|
|
NM_000441.2(SLC26A4):c.1348T>C (p.Leu450=)
|
rs781023703
|
|
NM_000441.2(SLC26A4):c.1350G>A (p.Leu450=)
|
rs2129316937
|
|
NM_000441.2(SLC26A4):c.135G>A (p.Thr45=)
|
|
|
NM_000441.2(SLC26A4):c.1368C>A (p.Ala456=)
|
rs2129316942
|
|
NM_000441.2(SLC26A4):c.1368C>T (p.Ala456=)
|
rs2129316942
|
|
NM_000441.2(SLC26A4):c.1370A>G (p.Asn457Ser)
|
|
|
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
|
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1371C>T (p.Asn457=)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1372C>T (p.Leu458=)
|
|
|
NM_000441.2(SLC26A4):c.1380G>A (p.Gly460=)
|
rs2129316947
|
|
NM_000441.2(SLC26A4):c.1390C>T (p.Gln464Ter)
|
|
|
NM_000441.2(SLC26A4):c.1392del (p.Gln464fs)
|
rs756019325
|
|
NM_000441.2(SLC26A4):c.1410T>A (p.Arg470=)
|
|
|
NM_000441.2(SLC26A4):c.141G>A (p.Arg47=)
|
|
|
NM_000441.2(SLC26A4):c.1422G>A (p.Gln474=)
|
|
|
NM_000441.2(SLC26A4):c.1425T>C (p.Asn475=)
|
rs2129316957
|
|
NM_000441.2(SLC26A4):c.1428G>A (p.Lys476=)
|
rs1791690086
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1431T>C (p.Ile477=)
|
rs1584330196
|
|
NM_000441.2(SLC26A4):c.1437+10C>G
|
|
|
NM_000441.2(SLC26A4):c.1437+11T>C
|
|
|
NM_000441.2(SLC26A4):c.1437+13C>G
|
|
|
NM_000441.2(SLC26A4):c.1437+16C>G
|
|
|
NM_000441.2(SLC26A4):c.1437+17C>T
|
|
|
NM_000441.2(SLC26A4):c.1437+1G>A
|
rs2129316961
|
|
NM_000441.2(SLC26A4):c.1437+20T>C
|
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1437+7C>T
|
rs559614118
|
|
NM_000441.2(SLC26A4):c.1437+9C>A
|
|
|
NM_000441.2(SLC26A4):c.1438-16C>A
|
|
|
NM_000441.2(SLC26A4):c.1438-2A>G
|
rs1057516717
|
|
NM_000441.2(SLC26A4):c.1438-4C>G
|
|
|
NM_000441.2(SLC26A4):c.1438-4dup
|
rs778728299
|
|
NM_000441.2(SLC26A4):c.1438-6C>T
|
|
|
NM_000441.2(SLC26A4):c.1438-7del
|
rs753586849
|
|
NM_000441.2(SLC26A4):c.1438-7dup
|
rs753586849
|
|
NM_000441.2(SLC26A4):c.1438-8T>C
|
|
|
NM_000441.2(SLC26A4):c.1444T>C (p.Trp482Arg)
|
|
|
NM_000441.2(SLC26A4):c.1449G>A (p.Val483=)
|
|
|
NM_000441.2(SLC26A4):c.144G>A (p.Glu48=)
|
|
|
NM_000441.2(SLC26A4):c.1455G>T (p.Thr485=)
|
|
|
NM_000441.2(SLC26A4):c.145_146dup (p.Ser49fs)
|
|
|
NM_000441.2(SLC26A4):c.1461A>C (p.Ile487=)
|
rs2129317147
|
|
NM_000441.2(SLC26A4):c.1464G>A (p.Val488=)
|
rs2129317148
|
|
NM_000441.2(SLC26A4):c.1467C>T (p.Ser489=)
|
|
|
NM_000441.2(SLC26A4):c.1477G>C (p.Gly493Arg)
|
|
|
NM_000441.2(SLC26A4):c.147C>T (p.Ser49=)
|
rs756969021
|
|
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg)
|
rs111033308
|
|
NM_000441.2(SLC26A4):c.148C>T (p.Leu50=)
|
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1524T>C (p.Thr508=)
|
rs2129317160
|
|
NM_000441.2(SLC26A4):c.1530C>T (p.Val510=)
|
|
|
NM_000441.2(SLC26A4):c.1533G>A (p.Leu511=)
|
rs745508336
|
|
NM_000441.2(SLC26A4):c.1534A>C (p.Arg512=)
|
|
|
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
|
|
|
NM_000441.2(SLC26A4):c.1536_1540delinsTCCACAACTCACTG (p.Arg512_Gln514delinsSerProGlnLeuThrGlu)
|
|
|
NM_000441.2(SLC26A4):c.153C>G (p.Ala51=)
|
|
|
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)
|
rs121908366
|
|
NM_000441.2(SLC26A4):c.1540C>T (p.Gln514Ter)
|
|
|
NM_000441.2(SLC26A4):c.1541A>C (p.Gln514Pro)
|
|
|
NM_000441.2(SLC26A4):c.1542G>A (p.Gln514=)
|
rs2129317166
|
|
NM_000441.2(SLC26A4):c.1543T>C (p.Phe515Leu)
|
|
|
NM_000441.2(SLC26A4):c.1544+15A>G
|
|
|
NM_000441.2(SLC26A4):c.1544+7A>G
|
|
|
NM_000441.2(SLC26A4):c.1544+9C>A
|
|
|
NM_000441.2(SLC26A4):c.1544+9C>G
|
rs368970459
|
|
NM_000441.2(SLC26A4):c.1545-11T>G
|
rs775807555
|
|
NM_000441.2(SLC26A4):c.1545-14_1545-12del
|
rs397516419
|
|
NM_000441.2(SLC26A4):c.1545-16A>G
|
|
|
NM_000441.2(SLC26A4):c.1545-16A>T
|
|
|
NM_000441.2(SLC26A4):c.1545-1G>A
|
|
|
NM_000441.2(SLC26A4):c.1545-5T>C
|
rs77944876
|
|
NM_000441.2(SLC26A4):c.1545-7C>T
|
|
|
NM_000441.2(SLC26A4):c.1545-8T>C
|
rs760918355
|
|
NM_000441.2(SLC26A4):c.1545T>A (p.Phe515Leu)
|
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1548T>A (p.Pro516=)
|
|
|
NM_000441.2(SLC26A4):c.1548T>C (p.Pro516=)
|
rs2129317521
|
|
NM_000441.2(SLC26A4):c.1560C>G (p.Gly520=)
|
rs2129317523
|
|
NM_000441.2(SLC26A4):c.156G>A (p.Lys52=)
|
|
|
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=)
|
rs1562837305
|
|
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)
|
rs765197819
|
|
NM_000441.2(SLC26A4):c.1575T>C (p.Pro525=)
|
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1588T>G (p.Tyr530Asp)
|
|
|
NM_000441.2(SLC26A4):c.1590C>G (p.Tyr530Ter)
|
|
|
NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg)
|
rs2129317533
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.1599C>T (p.Thr533=)
|
rs1438508849
|
|
NM_000441.2(SLC26A4):c.15C>T (p.Gly5=)
|
|
|
NM_000441.2(SLC26A4):c.1602G>A (p.Lys534=)
|
|
|
NM_000441.2(SLC26A4):c.1604dup (p.Asn535fs)
|
|
|
NM_000441.2(SLC26A4):c.1614+11T>C
|
|
|
NM_000441.2(SLC26A4):c.1614+13G>T
|
|
|
NM_000441.2(SLC26A4):c.1614+1G>C
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.1614+1G>T
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.1614+20A>T
|
|
|
NM_000441.2(SLC26A4):c.1614+2dup
|
|
|
NM_000441.2(SLC26A4):c.1614+5G>A
|
|
|
NM_000441.2(SLC26A4):c.1614+8C>A
|
|
|
NM_000441.2(SLC26A4):c.1614+9C>A
|
|
|
NM_000441.2(SLC26A4):c.1614+9C>T
|
rs553833553
|
|
NM_000441.2(SLC26A4):c.1615-14T>G
|
|
|
NM_000441.2(SLC26A4):c.1615-18A>G
|
|
|
NM_000441.2(SLC26A4):c.1615-18A>T
|
|
|
NM_000441.2(SLC26A4):c.1615-19C>T
|
|
|
NM_000441.2(SLC26A4):c.1615-4C>A
|
rs1401757719
|
|
NM_000441.2(SLC26A4):c.1615-5G>A
|
|
|
NM_000441.2(SLC26A4):c.1615-6T>C
|
rs1791843478
|
|
NM_000441.2(SLC26A4):c.1617T>G (p.Ile539Met)
|
rs1276433236
|
|
NM_000441.2(SLC26A4):c.162C>A (p.Cys54Ter)
|
rs2129308766
|
|
NM_000441.2(SLC26A4):c.1635G>A (p.Val545=)
|
rs1312836744
|
|
NM_000441.2(SLC26A4):c.164+10G>C
|
|
|
NM_000441.2(SLC26A4):c.164+12G>T
|
|
|
NM_000441.2(SLC26A4):c.164+14G>C
|
|
|
NM_000441.2(SLC26A4):c.164+1G>C
|
rs1021962985
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+20G>A
|
|
|
NM_000441.2(SLC26A4):c.164+20G>T
|
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.164+9C>A
|
|
|
NM_000441.2(SLC26A4):c.164+9C>T
|
|
|
NM_000441.2(SLC26A4):c.1641T>A (p.Ile547=)
|
|
|
NM_000441.2(SLC26A4):c.1645A>C (p.Arg549=)
|
|
|
NM_000441.2(SLC26A4):c.1645A>T (p.Arg549Ter)
|
rs2129317899
|
|
NM_000441.2(SLC26A4):c.1647A>G (p.Arg549=)
|
rs1791845803
|
|
NM_000441.2(SLC26A4):c.165-20G>C
|
|
|
NM_000441.2(SLC26A4):c.165-4A>C
|
|
|
NM_000441.2(SLC26A4):c.165-4A>G
|
|
|
NM_000441.2(SLC26A4):c.165-8T>C
|
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1653C>T (p.Ser551=)
|
|
|
NM_000441.2(SLC26A4):c.1662T>C (p.Ile554=)
|
|
|
NM_000441.2(SLC26A4):c.1668T>C (p.Tyr556=)
|
rs1791846977
|
|
NM_000441.2(SLC26A4):c.1668del (p.Phe555_Tyr556insTer)
|
rs2129317908
|
|
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp)
|
rs939755872
|
|
NM_000441.2(SLC26A4):c.1671C>T (p.Gly557=)
|
|
|
NM_000441.2(SLC26A4):c.1673A>T (p.Asn558Ile)
|
|
|
NM_000441.2(SLC26A4):c.1680T>C (p.Asp560=)
|
rs2129317910
|
|
NM_000441.2(SLC26A4):c.1692del (p.Lys564fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1695T>C (p.Cys565=)
|
|
|
NM_000441.2(SLC26A4):c.1707+12A>T
|
|
|
NM_000441.2(SLC26A4):c.1707+13T>C
|
|
|
NM_000441.2(SLC26A4):c.1707+14C>T
|
|
|
NM_000441.2(SLC26A4):c.1707+15C>A
|
|
|
NM_000441.2(SLC26A4):c.1707+15C>G
|
|
|
NM_000441.2(SLC26A4):c.1707+18A>G
|
|
|
NM_000441.2(SLC26A4):c.1707+1G>A
|
|
|
NM_000441.2(SLC26A4):c.1707+2T>G
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1707+6T>C
|
rs727505230
|
|
NM_000441.2(SLC26A4):c.1707+7A>C
|
|
|
NM_000441.2(SLC26A4):c.1707+8T>A
|
|
|
NM_000441.2(SLC26A4):c.1708-15C>T
|
|
|
NM_000441.2(SLC26A4):c.1708-17G>A
|
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.1708-4A>C
|
rs770960610
|
|
NM_000441.2(SLC26A4):c.1708-4A>G
|
rs770960610
|
|
NM_000441.2(SLC26A4):c.1708-6C>T
|
rs2129318089
|
|
NM_000441.2(SLC26A4):c.1711G>T (p.Gly571Ter)
|
rs1791873485
|
|
NM_000441.2(SLC26A4):c.1713A>C (p.Gly571=)
|
|
|
NM_000441.2(SLC26A4):c.171A>C (p.Ser57=)
|
rs903975921
|
|
NM_000441.2(SLC26A4):c.1725T>C (p.Ile575=)
|
|
|
NM_000441.2(SLC26A4):c.1728A>G (p.Arg576=)
|
|
|
NM_000441.2(SLC26A4):c.1736A>G (p.Asn579Ser)
|
|
|
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs)
|
rs1554360841
|
|
NM_000441.2(SLC26A4):c.1744C>T (p.Leu582=)
|
rs2129318104
|
|
NM_000441.2(SLC26A4):c.1752G>C (p.Ala584=)
|
|
|
NM_000441.2(SLC26A4):c.1752G>T (p.Ala584=)
|
rs771015634
|
|
NM_000441.2(SLC26A4):c.1803+13C>T
|
|
|
NM_000441.2(SLC26A4):c.1803+16T>C
|
|
|
NM_000441.2(SLC26A4):c.1803+16del
|
|
|
NM_000441.2(SLC26A4):c.1803+2T>C
|
rs768454870
|
|
NM_000441.2(SLC26A4):c.1804-12T>C
|
|
|
NM_000441.2(SLC26A4):c.1804-12T>G
|
|
|
NM_000441.2(SLC26A4):c.1804-17G>A
|
|
|
NM_000441.2(SLC26A4):c.1804-6G>C
|
|
|
NM_000441.2(SLC26A4):c.1804-6G>T
|
|
|
NM_000441.2(SLC26A4):c.1804-7del
|
|
|
NM_000441.2(SLC26A4):c.1816del (p.Ser606fs)
|
rs1185664659
|
|
NM_000441.2(SLC26A4):c.1824T>C (p.Ala608=)
|
|
|
NM_000441.2(SLC26A4):c.1833A>C (p.Thr611=)
|
|
|
NM_000441.2(SLC26A4):c.1836T>C (p.Asn612=)
|
|
|
NM_000441.2(SLC26A4):c.1842T>C (p.Ala614=)
|
rs2129318239
|
|
NM_000441.2(SLC26A4):c.1860_1889dup (p.Ile621_Pro630dup)
|
rs2129318245
|
|
NM_000441.2(SLC26A4):c.1872G>A (p.Leu624=)
|
|
|
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000441.2(SLC26A4):c.1881del (p.Asp628fs)
|
|
|
NM_000441.2(SLC26A4):c.1887C>T (p.Ile629=)
|
|
|
NM_000441.2(SLC26A4):c.1896G>A (p.Lys632=)
|
|
|
NM_000441.2(SLC26A4):c.1923C>T (p.Asn641=)
|
rs1791901657
|
|
NM_000441.2(SLC26A4):c.1926T>G (p.Ser642=)
|
|
|
NM_000441.2(SLC26A4):c.1932T>C (p.Leu644=)
|
|
|
NM_000441.2(SLC26A4):c.1935A>C (p.Pro645=)
|
|
|
NM_000441.2(SLC26A4):c.193C>T (p.Leu65=)
|
rs2129309167
|
|
NM_000441.2(SLC26A4):c.1950T>C (p.Val650=)
|
|
|
NM_000441.2(SLC26A4):c.1962A>G (p.Pro654=)
|
|
|
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys)
|
rs876658003
|
|
NM_000441.2(SLC26A4):c.196_197del (p.Lys66fs)
|
|
|
NM_000441.2(SLC26A4):c.1971C>T (p.Ser657=)
|
rs1336642579
|
|
NM_000441.2(SLC26A4):c.1980T>C (p.Leu660=)
|
rs2129318275
|
|
NM_000441.2(SLC26A4):c.1985_1998del (p.Cys662fs)
|
|
|
NM_000441.2(SLC26A4):c.1986T>C (p.Cys662=)
|
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.1996T>C (p.Ser666Pro)
|
|
|
NM_000441.2(SLC26A4):c.1998T>A (p.Ser666=)
|
|
|
NM_000441.2(SLC26A4):c.1999T>C (p.Phe667Leu)
|
|
|
NM_000441.2(SLC26A4):c.2005_2006dup (p.Asp669fs)
|
|
|
NM_000441.2(SLC26A4):c.2010del (p.Val671fs)
|
|
|
NM_000441.2(SLC26A4):c.2014G>A (p.Gly672Arg)
|
|
|
NM_000441.2(SLC26A4):c.201T>C (p.Thr67=)
|
rs773835233
|
|
NM_000441.2(SLC26A4):c.2025A>C (p.Ser675=)
|
|
|
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)
|
rs2129318299
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2027T>C (p.Leu676Pro)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2029C>A (p.Arg677=)
|
rs397516426
|
|
NM_000441.2(SLC26A4):c.2031G>A (p.Arg677=)
|
rs1791908736
|
|
NM_000441.2(SLC26A4):c.2034+10T>C
|
rs2129318309
|
|
NM_000441.2(SLC26A4):c.2034+11G>T
|
|
|
NM_000441.2(SLC26A4):c.2034+14T>C
|
|
|
NM_000441.2(SLC26A4):c.2034+18T>C
|
|
|
NM_000441.2(SLC26A4):c.2034+1G>A
|
rs759683649
|
|
NM_000441.2(SLC26A4):c.2035-10T>G
|
rs778661976
|
|
NM_000441.2(SLC26A4):c.2035-11T>C
|
|
|
NM_000441.2(SLC26A4):c.2035-13T>G
|
|
|
NM_000441.2(SLC26A4):c.2035-16C>T
|
|
|
NM_000441.2(SLC26A4):c.2035-16_2035-14del
|
|
|
NM_000441.2(SLC26A4):c.2035-19T>C
|
rs1791979198
|
|
NM_000441.2(SLC26A4):c.2035-20C>T
|
|
|
NM_000441.2(SLC26A4):c.2035-8A>T
|
rs771627871
|
|
NM_000441.2(SLC26A4):c.2035-9del
|
|
|
NM_000441.2(SLC26A4):c.2037T>C (p.Ile679=)
|
rs2129318782
|
|
NM_000441.2(SLC26A4):c.2043A>G (p.Lys681=)
|
|
|
NM_000441.2(SLC26A4):c.2052A>G (p.Gln684=)
|
rs1449263295
|
|
NM_000441.2(SLC26A4):c.2064G>C (p.Val688=)
|
rs2129318788
|
|
NM_000441.2(SLC26A4):c.2065A>T (p.Asn689Tyr)
|
|
|
NM_000441.2(SLC26A4):c.2067T>G (p.Asn689Lys)
|
|
|
NM_000441.2(SLC26A4):c.2070G>T (p.Val690=)
|
rs374686650
|
|
NM_000441.2(SLC26A4):c.2073T>C (p.Tyr691=)
|
rs2129318792
|
|
NM_000441.2(SLC26A4):c.2079A>G (p.Ala693=)
|
rs767770720
|
|
NM_000441.2(SLC26A4):c.2089+11A>G
|
|
|
NM_000441.2(SLC26A4):c.2089+12T>C
|
|
|
NM_000441.2(SLC26A4):c.2089+13A>G
|
|
|
NM_000441.2(SLC26A4):c.2089+13A>T
|
|
|
NM_000441.2(SLC26A4):c.2089+15C>T
|
|
|
NM_000441.2(SLC26A4):c.2089+19A>C
|
|
|
NM_000441.2(SLC26A4):c.2089+3A>G
|
rs753682653
|
|
NM_000441.2(SLC26A4):c.2089+9A>C
|
rs369504960
|
|
NM_000441.2(SLC26A4):c.2199G>C (p.Val733=)
|
rs748146381
|
|
NM_000441.2(SLC26A4):c.219G>A (p.Glu73=)
|
|
|
NM_000441.2(SLC26A4):c.2202A>G (p.Lys734=)
|
rs2129319944
|
|
NM_000441.2(SLC26A4):c.2204C>G (p.Ser735Cys)
|
rs1167637808
|
|
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=)
|
rs1387758666
|
|
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)
|
rs727503431
|
|
NM_000441.2(SLC26A4):c.2217A>G (p.Gln739=)
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.2223C>T (p.Ser741=)
|
rs2129319950
|
|
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs)
|
rs876657723
|
|
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
|
|
|
NM_000441.2(SLC26A4):c.2235+10C>A
|
rs1792145694
|
|
NM_000441.2(SLC26A4):c.2235+12A>G
|
|
|
NM_000441.2(SLC26A4):c.2235+13C>T
|
|
|
NM_000441.2(SLC26A4):c.2235+14C>A
|
|
|
NM_000441.2(SLC26A4):c.2235+16T>G
|
|
|
NM_000441.2(SLC26A4):c.2236-12C>T
|
|
|
NM_000441.2(SLC26A4):c.2236-18T>C
|
|
|
NM_000441.2(SLC26A4):c.2236-19C>T
|
|
|
NM_000441.2(SLC26A4):c.2236-6T>C
|
rs1409309832
|
|
NM_000441.2(SLC26A4):c.2236-9T>C
|
rs2129320405
|
|
NM_000441.2(SLC26A4):c.2256T>C (p.Cys752=)
|
rs2129320407
|
|
NM_000441.2(SLC26A4):c.2259A>G (p.Lys753=)
|
rs2129320408
|
|
NM_000441.2(SLC26A4):c.2265C>G (p.Thr755=)
|
rs752928913
|
|
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer)
|
rs767671344
|
|
NM_000441.2(SLC26A4):c.227C>G (p.Pro76Arg)
|
rs1345175795
|
|
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)
|
rs1345175795
|
|
NM_000441.2(SLC26A4):c.2284G>T (p.Glu762Ter)
|
rs2129320416
|
|
NM_000441.2(SLC26A4):c.2298A>G (p.Glu766=)
|
rs771772382
|
|
NM_000441.2(SLC26A4):c.2304T>C (p.Leu768=)
|
|
|
NM_000441.2(SLC26A4):c.2310C>A (p.Val770=)
|
rs768404882
|
|
NM_000441.2(SLC26A4):c.2310C>T (p.Val770=)
|
rs768404882
|
|
NM_000441.2(SLC26A4):c.2313G>A (p.Gln771=)
|
|
|
NM_000441.2(SLC26A4):c.2319+11T>C
|
|
|
NM_000441.2(SLC26A4):c.2319+13T>C
|
|
|
NM_000441.2(SLC26A4):c.2319+13T>G
|
|
|
NM_000441.2(SLC26A4):c.2319+16T>C
|
|
|
NM_000441.2(SLC26A4):c.2319+19G>A
|
|
|
NM_000441.2(SLC26A4):c.2319+7T>A
|
|
|
NM_000441.2(SLC26A4):c.2319+8C>A
|
rs2129320428
|
|
NM_000441.2(SLC26A4):c.231A>G (p.Lys77=)
|
|
|
NM_000441.2(SLC26A4):c.2320-12T>C
|
|
|
NM_000441.2(SLC26A4):c.2320-4A>G
|
rs727503432
|
|
NM_000441.2(SLC26A4):c.2320-5C>T
|
|
|
NM_000441.2(SLC26A4):c.2320-7T>C
|
|
|
NM_000441.2(SLC26A4):c.2320-9C>T
|
|
|
NM_000441.2(SLC26A4):c.2328T>G (p.Arg776=)
|
|
|
NM_000441.2(SLC26A4):c.2331A>G (p.Thr777=)
|
|
|
NM_000441.2(SLC26A4):c.2334T>C (p.Leu778=)
|
|
|
NM_000441.2(SLC26A4):c.2337A>G (p.Ala779=)
|
|
|
NM_000441.2(SLC26A4):c.233A>G (p.Tyr78Cys)
|
|
|
NM_000441.2(SLC26A4):c.2340C>G (p.Ser780=)
|
rs1792322433
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.242dup (p.Glu82fs)
|
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
NM_000441.2(SLC26A4):c.24G>A (p.Ser8=)
|
|
|
NM_000441.2(SLC26A4):c.252G>T (p.Leu84=)
|
rs2129309190
|
|
NM_000441.2(SLC26A4):c.255T>C (p.Leu85=)
|
|
|
NM_000441.2(SLC26A4):c.258T>C (p.Ser86=)
|
rs756147163
|
|
NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)
|
rs758648839
|
|
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)
|
rs111033344
|
|
NM_000441.2(SLC26A4):c.261C>T (p.Asp87=)
|
rs758057358
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.273A>G (p.Gly91=)
|
rs1365152873
|
|
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)
|
rs2129309202
|
|
NM_000441.2(SLC26A4):c.27G>A (p.Glu9=)
|
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.282T>C (p.Thr94=)
|
|
|
NM_000441.2(SLC26A4):c.285G>A (p.Gly95=)
|
|
|
NM_000441.2(SLC26A4):c.289G>T (p.Val97Leu)
|
|
|
NM_000441.2(SLC26A4):c.290T>A (p.Val97Glu)
|
|
|
NM_000441.2(SLC26A4):c.290T>C (p.Val97Ala)
|
|
|
NM_000441.2(SLC26A4):c.294C>T (p.Ala98=)
|
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.297G>C (p.Thr99=)
|
|
|
NM_000441.2(SLC26A4):c.297G>T (p.Thr99=)
|
rs397516429
|
|
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
|
|
|
NM_000441.2(SLC26A4):c.300G>C (p.Leu100=)
|
|
|
NM_000441.2(SLC26A4):c.300G>T (p.Leu100=)
|
|
|
NM_000441.2(SLC26A4):c.304+12G>A
|
rs1057033374
|
|
NM_000441.2(SLC26A4):c.304+15G>C
|
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.304+7T>A
|
rs2129309220
|
|
NM_000441.2(SLC26A4):c.304+8G>A
|
rs2129309221
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.304G>C (p.Gly102Arg)
|
|
|
NM_000441.2(SLC26A4):c.305-1G>C
|
rs1243584839
|
|
NM_000441.2(SLC26A4):c.305-2A>G
|
|
|
NM_000441.2(SLC26A4):c.305-7C>T
|
|
|
NM_000441.2(SLC26A4):c.306G>A (p.Gly102=)
|
rs1584304133
|
|
NM_000441.2(SLC26A4):c.312A>G (p.Ala104=)
|
|
|
NM_000441.2(SLC26A4):c.315T>G (p.Tyr105Ter)
|
|
|
NM_000441.2(SLC26A4):c.316G>A (p.Ala106Thr)
|
rs2129311226
|
|
NM_000441.2(SLC26A4):c.319C>T (p.Leu107=)
|
rs1258763552
|
|
NM_000441.2(SLC26A4):c.320dup (p.Leu108fs)
|
|
|
NM_000441.2(SLC26A4):c.321A>G (p.Leu107=)
|
|
|
NM_000441.2(SLC26A4):c.321A>T (p.Leu107=)
|
|
|
NM_000441.2(SLC26A4):c.324A>G (p.Leu108=)
|
rs2129311233
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.335C>T (p.Pro112Leu)
|
rs2129311240
|
|
NM_000441.2(SLC26A4):c.336T>C (p.Pro112=)
|
|
|
NM_000441.2(SLC26A4):c.33G>A (p.Pro11=)
|
rs549105797
|
|
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp)
|
rs2129311246
|
|
NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val)
|
rs2129311246
|
|
NM_000441.2(SLC26A4):c.357T>C (p.Ser119=)
|
rs2129311251
|
|
NM_000441.2(SLC26A4):c.358G>C (p.Ala120Pro)
|
rs2129311252
|
|
NM_000441.2(SLC26A4):c.360T>C (p.Ala120=)
|
|
|
NM_000441.2(SLC26A4):c.365del (p.Phe122fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.366C>T (p.Phe122=)
|
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.36G>A (p.Gln12=)
|
|
|
NM_000441.2(SLC26A4):c.373C>T (p.Leu125=)
|
rs769776956
|
|
NM_000441.2(SLC26A4):c.387C>A (p.Ile129=)
|
rs1427603833
|
|
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
|
rs2129311265
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000441.2(SLC26A4):c.398C>A (p.Ser133Ter)
|
|
|
NM_000441.2(SLC26A4):c.398C>G (p.Ser133Ter)
|
|
|
NM_000441.2(SLC26A4):c.398C>T (p.Ser133Leu)
|
rs2129311271
|
|
NM_000441.2(SLC26A4):c.39C>A (p.Leu13=)
|
rs1562817215
|
|
NM_000441.2(SLC26A4):c.39C>T (p.Leu13=)
|
rs1562817215
|
|
NM_000441.2(SLC26A4):c.402A>G (p.Arg134=)
|
rs2129311272
|
|
NM_000441.2(SLC26A4):c.406_407dup (p.Val138fs)
|
rs2129311273
|
|
NM_000441.2(SLC26A4):c.411A>C (p.Ser137=)
|
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
|
|
|
NM_000441.2(SLC26A4):c.415+10_415+15del
|
rs754219892
|
|
NM_000441.2(SLC26A4):c.415+12T>C
|
|
|
NM_000441.2(SLC26A4):c.415+16T>C
|
|
|
NM_000441.2(SLC26A4):c.415+17_415+27del
|
|
|
NM_000441.2(SLC26A4):c.415+1G>C
|
rs2129311278
|
|
NM_000441.2(SLC26A4):c.415+8_415+12dup
|
rs1330602139
|
|
NM_000441.2(SLC26A4):c.416-14C>A
|
|
|
NM_000441.2(SLC26A4):c.416-15del
|
|
|
NM_000441.2(SLC26A4):c.416-16G>A
|
|
|
NM_000441.2(SLC26A4):c.416-16G>T
|
rs114992866
|
|
NM_000441.2(SLC26A4):c.416-19A>G
|
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
NM_000441.2(SLC26A4):c.416-2A>C
|
|
|
NM_000441.2(SLC26A4):c.416-5C>T
|
|
|
NM_000441.2(SLC26A4):c.416-7del
|
rs765579453
|
|
NM_000441.2(SLC26A4):c.416-8_416-7del
|
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
|
|
|
NM_000441.2(SLC26A4):c.422T>C (p.Phe141Ser)
|
|
|
NM_000441.2(SLC26A4):c.427G>A (p.Val143Met)
|
|
|
NM_000441.2(SLC26A4):c.427G>C (p.Val143Leu)
|
|
|
NM_000441.2(SLC26A4):c.42C>G (p.Pro14=)
|
|
|
NM_000441.2(SLC26A4):c.42C>T (p.Pro14=)
|
rs755036570
|
|
NM_000441.2(SLC26A4):c.439A>C (p.Met147Leu)
|
rs760413427
|
|
NM_000441.2(SLC26A4):c.43G>T (p.Glu15Ter)
|
|
|
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)
|
rs1554354787
|
|
NM_000441.2(SLC26A4):c.444G>A (p.Val148=)
|
|
|
NM_000441.2(SLC26A4):c.444G>C (p.Val148=)
|
|
|
NM_000441.2(SLC26A4):c.453T>G (p.Val151=)
|
|
|
NM_000441.2(SLC26A4):c.462C>T (p.Ser154=)
|
|
|
NM_000441.2(SLC26A4):c.466G>C (p.Ala156Pro)
|
|
|
NM_000441.2(SLC26A4):c.471C>G (p.Pro157=)
|
rs557892300
|
|
NM_000441.2(SLC26A4):c.474C>T (p.Asp158=)
|
rs1790952410
|
|
NM_000441.2(SLC26A4):c.486C>G (p.Leu162=)
|
rs370020280
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
NM_000441.2(SLC26A4):c.489A>G (p.Val163=)
|
rs1393712127
|
|
NM_000441.2(SLC26A4):c.494G>C (p.Ser165Thr)
|
|
|
NM_000441.2(SLC26A4):c.501T>C (p.Asn167=)
|
rs1790954431
|
|
NM_000441.2(SLC26A4):c.522T>C (p.Thr174=)
|
rs749057532
|
|
NM_000441.2(SLC26A4):c.522T>G (p.Thr174=)
|
|
|
NM_000441.2(SLC26A4):c.531C>T (p.Asp177=)
|
rs1584306710
|
|
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=)
|
rs1790957218
|
|
NM_000441.2(SLC26A4):c.553A>T (p.Arg185Ter)
|
|
|
NM_000441.2(SLC26A4):c.556_562del (p.Val186fs)
|
|
|
NM_000441.2(SLC26A4):c.567del (p.Ser190fs)
|
rs1790959315
|
|
NM_000441.2(SLC26A4):c.57C>T (p.Ser19=)
|
|
|
NM_000441.2(SLC26A4):c.582G>A (p.Leu194=)
|
rs1790960762
|
|
NM_000441.2(SLC26A4):c.584del (p.Leu195fs)
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.594T>A (p.Ile198=)
|
rs1469698819
|
|
NM_000441.2(SLC26A4):c.594T>C (p.Ile198=)
|
rs1469698819
|
|
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
|
|
|
NM_000441.2(SLC26A4):c.600+10T>G
|
rs1790962954
|
|
NM_000441.2(SLC26A4):c.600+24T>C
|
|
|
NM_000441.2(SLC26A4):c.600+2T>A
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.601-16C>A
|
|
|
NM_000441.2(SLC26A4):c.601-1G>A
|
rs1554355011
|
|
NM_000441.2(SLC26A4):c.601-6T>C
|
rs2129311924
|
|
NM_000441.2(SLC26A4):c.606A>C (p.Ile202=)
|
|
|
NM_000441.2(SLC26A4):c.606del (p.Phe203fs)
|
|
|
NM_000441.2(SLC26A4):c.618G>A (p.Leu206=)
|
|
|
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)
|
rs1057516678
|
|
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)
|
|
|
NM_000441.2(SLC26A4):c.633A>T (p.Ile211=)
|
|
|
NM_000441.2(SLC26A4):c.636G>T (p.Val212=)
|
rs1790981499
|
|
NM_000441.2(SLC26A4):c.637A>T (p.Arg213Trp)
|
|
|
NM_000441.2(SLC26A4):c.639G>A (p.Arg213=)
|
rs2129311942
|
|
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys)
|
rs773861155
|
|
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
|
|
|
NM_000441.2(SLC26A4):c.657G>A (p.Leu219=)
|
rs1426951345
|
|
NM_000441.2(SLC26A4):c.659T>C (p.Val220Ala)
|
|
|
NM_000441.2(SLC26A4):c.665G>A (p.Gly222Asp)
|
|
|
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
|
|
|
NM_000441.2(SLC26A4):c.66G>A (p.Val22=)
|
|
|
NM_000441.2(SLC26A4):c.66G>T (p.Val22=)
|
rs199686880
|
|
NM_000441.2(SLC26A4):c.675del (p.Ala226fs)
|
rs2129311949
|
|
NM_000441.2(SLC26A4):c.688C>T (p.Gln230Ter)
|
rs2129311951
|
|
NM_000441.2(SLC26A4):c.691G>A (p.Val231Met)
|
rs483353047
|
|
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu)
|
rs483353047
|
|
NM_000441.2(SLC26A4):c.692T>C (p.Val231Ala)
|
|
|
NM_000441.2(SLC26A4):c.699C>T (p.Val233=)
|
|
|
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
|
|
|
NM_000441.2(SLC26A4):c.702A>T (p.Ser234=)
|
rs2129311960
|
|
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)
|
rs2129311961
|
|
NM_000441.2(SLC26A4):c.714T>A (p.Ile238=)
|
rs2129311964
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.722A>T (p.Asn241Ile)
|
|
|
NM_000441.2(SLC26A4):c.726T>C (p.Val242=)
|
rs1790984679
|
|
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=)
|
rs2129311968
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.741C>T (p.Tyr247=)
|
|
|
NM_000441.2(SLC26A4):c.744T>C (p.Asn248=)
|
|
|
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)
|
rs750365180
|
|
NM_000441.2(SLC26A4):c.747A>C (p.Gly249=)
|
rs1374641452
|
|
NM_000441.2(SLC26A4):c.74C>G (p.Pro25Arg)
|
|
|
NM_000441.2(SLC26A4):c.750T>C (p.Val250=)
|
rs2129311986
|
|
NM_000441.2(SLC26A4):c.753C>T (p.Leu251=)
|
rs111713323
|
|
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
|
rs1315422549
|
|
NM_000441.2(SLC26A4):c.756T>C (p.Ser252=)
|
rs1790986272
|
|
NM_000441.2(SLC26A4):c.759T>C (p.Ile253=)
|
|
|
NM_000441.2(SLC26A4):c.75G>C (p.Pro25=)
|
rs570668954
|
|
NM_000441.2(SLC26A4):c.75G>T (p.Pro25=)
|
rs570668954
|
|
NM_000441.2(SLC26A4):c.765+10G>A
|
|
|
NM_000441.2(SLC26A4):c.765+14C>T
|
|
|
NM_000441.2(SLC26A4):c.765+17G>T
|
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000441.2(SLC26A4):c.765+3A>C
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.765+3A>T
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.765_765+3del
|
rs756076960
|
|
NM_000441.2(SLC26A4):c.766-14T>C
|
|
|
NM_000441.2(SLC26A4):c.766-16T>C
|
|
|
NM_000441.2(SLC26A4):c.766-20A>C
|
|
|
NM_000441.2(SLC26A4):c.766-4A>G
|
|
|
NM_000441.2(SLC26A4):c.766-7T>C
|
rs2129314448
|
|
NM_000441.2(SLC26A4):c.767C>A (p.Thr256Lys)
|
|
|
NM_000441.2(SLC26A4):c.76dup (p.Val26fs)
|
|
|
NM_000441.2(SLC26A4):c.774_795del (p.Glu259fs)
|
|
|
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)
|
|
|
NM_000441.2(SLC26A4):c.789T>C (p.Asn263=)
|
|
|
NM_000441.2(SLC26A4):c.792T>C (p.Ile264=)
|
|
|
NM_000441.2(SLC26A4):c.798T>C (p.Asp266=)
|
|
|
NM_000441.2(SLC26A4):c.801C>A (p.Thr267=)
|
rs1791296902
|
|
NM_000441.2(SLC26A4):c.807T>C (p.Leu269=)
|
|
|
NM_000441.2(SLC26A4):c.809C>T (p.Ala270Val)
|
|
|
NM_000441.2(SLC26A4):c.813T>C (p.Asp271=)
|
rs2129314464
|
|
NM_000441.2(SLC26A4):c.834C>T (p.Thr278=)
|
|
|
NM_000441.2(SLC26A4):c.838G>A (p.Val280Ile)
|
|
|
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
|
|
|
NM_000441.2(SLC26A4):c.840C>A (p.Val280=)
|
|
|
NM_000441.2(SLC26A4):c.843C>G (p.Val281=)
|
rs1584317556
|
|
NM_000441.2(SLC26A4):c.846T>C (p.Cys282=)
|
rs2129314475
|
|
NM_000441.2(SLC26A4):c.84C>G (p.Ser28Arg)
|
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.861A>G (p.Glu287=)
|
|
|
NM_000441.2(SLC26A4):c.870T>C (p.Asp290=)
|
rs2129314486
|
|
NM_000441.2(SLC26A4):c.888C>A (p.Ile296=)
|
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.908A>G (p.Glu303Gly)
|
|
|
NM_000441.2(SLC26A4):c.908_910del (p.Glu303del)
|
|
|
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
|
|
|
NM_000441.2(SLC26A4):c.918+11T>A
|
|
|
NM_000441.2(SLC26A4):c.918+13T>C
|
|
|
NM_000441.2(SLC26A4):c.918+16A>G
|
|
|
NM_000441.2(SLC26A4):c.918+17G>A
|
|
|
NM_000441.2(SLC26A4):c.918+1G>C
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.918+2T>A
|
|
|
NM_000441.2(SLC26A4):c.919-10T>C
|
|
|
NM_000441.2(SLC26A4):c.919-14_919-13del
|
|
|
NM_000441.2(SLC26A4):c.919-16T>C
|
|
|
NM_000441.2(SLC26A4):c.919-17C>T
|
|
|
NM_000441.2(SLC26A4):c.919-7A>C
|
|
|
NM_000441.2(SLC26A4):c.919-9T>G
|
|
|
NM_000441.2(SLC26A4):c.93T>C (p.Ala31=)
|
|
|
NM_000441.2(SLC26A4):c.941C>G (p.Ser314Ter)
|
rs1791311163
|
|
NM_000441.2(SLC26A4):c.942A>G (p.Ser314=)
|
|
|
NM_000441.2(SLC26A4):c.944A>G (p.Tyr315Cys)
|
|
|
NM_000441.2(SLC26A4):c.945T>C (p.Tyr315=)
|
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
NM_000441.2(SLC26A4):c.957G>A (p.Leu319=)
|
rs1562829532
|
|
NM_000441.2(SLC26A4):c.960A>G (p.Glu320=)
|
rs2129314553
|
|
NM_000441.2(SLC26A4):c.965dup (p.Asn322fs)
|
rs747834704
|
|
NM_000441.2(SLC26A4):c.969C>T (p.Tyr323=)
|
rs748164675
|
|
NM_000441.2(SLC26A4):c.978C>T (p.Gly326=)
|
|
|
NM_000441.2(SLC26A4):c.981T>C (p.Ile327=)
|
rs2129314564
|
|
NM_000441.2(SLC26A4):c.987A>G (p.Lys329=)
|
rs2129314565
|
|
NM_000441.2(SLC26A4):c.993C>T (p.Ile331=)
|
rs774232219
|
|
NM_000441.2(SLC26A4):c.999G>A (p.Arg333=)
|
|
|
NM_000441.2(SLC26A4):c.99G>A (p.Gln33=)
|
|
|
NM_000441.2(SLC26A4):c.99_100del (p.Gln34fs)
|
|
|
NM_000441.2(SLC26A4):c.9G>A (p.Ala3=)
|
|
|
NM_000441.2(SLC26A4):c.9G>T (p.Ala3=)
|
|
|