NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
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.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
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.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
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.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
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.165-1G>A
|
rs759792660
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
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.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
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.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.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1150-1G>A
|
rs1791525285
|
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.1336C>T (p.Gln446Ter)
|
rs397516416
|
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.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00001
|
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
|
rs111033200
|
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.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)
|
rs1554352718
|
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.415+7A>G
|
rs765884316
|
0.00001
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.704A>G (p.Gln235Arg)
|
rs752485540
|
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.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
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.(?_107332383)_(107336443_?)del
|
|
|
NC_000007.13:g.(?_107334836)_(107335171_?)del
|
|
|
NC_000007.13:g.(?_107334836)_(107342512_?)del
|
|
|
NC_000007.13:g.(?_107342252)_(107353087_?)del
|
|
|
NC_000007.14:g.(?_107660756)_(107661815_?)del
|
|
|
NC_000007.14:g.(?_107694391)_(107696049_?)del
|
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
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.1002del
|
|
|
NM_000441.2(SLC26A4):c.1011del (p.Pro338fs)
|
rs2129315787
|
|
NM_000441.2(SLC26A4):c.1034T>A (p.Leu345Ter)
|
|
|
NM_000441.2(SLC26A4):c.1042G>T (p.Glu348Ter)
|
|
|
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs)
|
rs2129315801
|
|
NM_000441.2(SLC26A4):c.1058C>G (p.Ser353Ter)
|
|
|
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)
|
rs371544695
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1131C>A (p.Tyr377Ter)
|
rs2129315827
|
|
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)
|
rs1374999656
|
|
NM_000441.2(SLC26A4):c.1150-1G>C
|
|
|
NM_000441.2(SLC26A4):c.1150-1G>T
|
rs1791525285
|
|
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.1181del (p.Phe394fs)
|
|
|
NM_000441.2(SLC26A4):c.1194_1198del (p.Phe398fs)
|
rs2129316011
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1216_1220del (p.Ala406fs)
|
|
|
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)
|
rs886043058
|
|
NM_000441.2(SLC26A4):c.1237C>T (p.Gln413Ter)
|
|
|
NM_000441.2(SLC26A4):c.1238A>C (p.Gln413Pro)
|
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)
|
rs1584292992
|
|
NM_000441.2(SLC26A4):c.1316_1317dup (p.Lys440fs)
|
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1341+1G>A
|
rs376653349
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
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.1370A>T (p.Asn457Ile)
|
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1390C>T (p.Gln464Ter)
|
|
|
NM_000441.2(SLC26A4):c.1392del (p.Gln464fs)
|
rs756019325
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1444T>C (p.Trp482Arg)
|
|
|
NM_000441.2(SLC26A4):c.145_146dup (p.Ser49fs)
|
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
|
|
|
NM_000441.2(SLC26A4):c.1536_1540delinsTCCACAACTCACTG (p.Arg512_Gln514delinsSerProGlnLeuThrGlu)
|
|
|
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)
|
rs121908366
|
|
NM_000441.2(SLC26A4):c.1540C>T (p.Gln514Ter)
|
|
|
NM_000441.2(SLC26A4):c.1543T>C (p.Phe515Leu)
|
|
|
NM_000441.2(SLC26A4):c.1545T>A (p.Phe515Leu)
|
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
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.1604dup (p.Asn535fs)
|
|
|
NM_000441.2(SLC26A4):c.1614+1G>C
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.1614+1G>T
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.162C>A (p.Cys54Ter)
|
rs2129308766
|
|
NM_000441.2(SLC26A4):c.164+1G>C
|
rs1021962985
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.1645A>T (p.Arg549Ter)
|
rs2129317899
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1668del (p.Phe555_Tyr556insTer)
|
rs2129317908
|
|
NM_000441.2(SLC26A4):c.1673A>T (p.Asn558Ile)
|
|
|
NM_000441.2(SLC26A4):c.1692del (p.Lys564fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1707+1G>A
|
|
|
NM_000441.2(SLC26A4):c.1711G>T (p.Gly571Ter)
|
rs1791873485
|
|
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs)
|
rs1554360841
|
|
NM_000441.2(SLC26A4):c.1816del (p.Ser606fs)
|
rs1185664659
|
|
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000441.2(SLC26A4):c.1881del (p.Asp628fs)
|
|
|
NM_000441.2(SLC26A4):c.196_197del (p.Lys66fs)
|
|
|
NM_000441.2(SLC26A4):c.1985_1998del (p.Cys662fs)
|
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
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.2026del (p.Leu676fs)
|
rs2129318299
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)
|
rs727503431
|
|
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs)
|
rs876657723
|
|
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
|
|
|
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)
|
rs1345175795
|
|
NM_000441.2(SLC26A4):c.233A>G (p.Tyr78Cys)
|
|
|
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.25G>T (p.Glu9Ter)
|
rs758648839
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
|
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.304G>C (p.Gly102Arg)
|
|
|
NM_000441.2(SLC26A4):c.315T>G (p.Tyr105Ter)
|
|
|
NM_000441.2(SLC26A4):c.320dup (p.Leu108fs)
|
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.365del (p.Phe122fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
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.406_407dup (p.Val138fs)
|
rs2129311273
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|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
|
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
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|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.422T>C (p.Phe141Ser)
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|
|
NM_000441.2(SLC26A4):c.43G>T (p.Glu15Ter)
|
|
|
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)
|
rs1554354787
|
|
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.584del (p.Leu195fs)
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
|
|
|
NM_000441.2(SLC26A4):c.600+2T>A
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.601-1G>A
|
rs1554355011
|
|
NM_000441.2(SLC26A4):c.606del (p.Phe203fs)
|
|
|
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)
|
rs1057516678
|
|
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)
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|
|
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys)
|
rs773861155
|
|
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
|
|
|
NM_000441.2(SLC26A4):c.665G>A (p.Gly222Asp)
|
|
|
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
|
|
|
NM_000441.2(SLC26A4):c.675del (p.Ala226fs)
|
rs2129311949
|
|
NM_000441.2(SLC26A4):c.688C>T (p.Gln230Ter)
|
rs2129311951
|
|
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
|
|
|
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)
|
rs2129311961
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)
|
rs750365180
|
|
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
|
rs1315422549
|
|
NM_000441.2(SLC26A4):c.765+3A>T
|
rs483353048
|
|
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.839del (p.Val280fs)
|
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.908_910del (p.Glu303del)
|
|
|
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
|
|
|
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.941C>G (p.Ser314Ter)
|
rs1791311163
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
NM_000441.2(SLC26A4):c.965dup (p.Asn322fs)
|
rs747834704
|
|
NM_000441.2(SLC26A4):c.99_100del (p.Gln34fs)
|
|
|