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.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met)
|
rs144691257
|
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.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)
|
rs148425972
|
0.00001
|
NM_000441.2(SLC26A4):c.1160C>A (p.Ala387Asp)
|
rs777333979
|
0.00001
|
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly)
|
rs1057520369
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
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.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
NM_000441.2(SLC26A4):c.277A>C (p.Ser93Arg)
|
rs1318905318
|
0.00001
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
NM_000441.2(SLC26A4):c.755C>T (p.Ser252Phe)
|
rs375433525
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NC_000007.13:g.(?_107329488)_(107353077_?)dup
|
|
|
NC_000007.13:g.(?_107336368)_(107355960_?)del
|
|
|
NC_000007.14:g.(?_107674154)_(107683567_?)dup
|
|
|
NM_000441.2(SLC26A4):c.1027G>C (p.Val343Leu)
|
|
|
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp)
|
rs1057518006
|
|
NM_000441.2(SLC26A4):c.1159G>T (p.Ala387Ser)
|
|
|
NM_000441.2(SLC26A4):c.1206G>A (p.Val402=)
|
rs887436159
|
|
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.1238A>T (p.Gln413Leu)
|
|
|
NM_000441.2(SLC26A4):c.1259C>T (p.Thr420Ile)
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)
|
rs1057520369
|
|
NM_000441.2(SLC26A4):c.1270G>C (p.Gly424Arg)
|
|
|
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.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
|
|
|
NM_000441.2(SLC26A4):c.1342-1G>A
|
|
|
NM_000441.2(SLC26A4):c.1370A>G (p.Asn457Ser)
|
|
|
NM_000441.2(SLC26A4):c.1437+1G>A
|
rs2129316961
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1438-2A>G
|
rs1057516717
|
|
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg)
|
rs111033308
|
|
NM_000441.2(SLC26A4):c.1541A>C (p.Gln514Pro)
|
|
|
NM_000441.2(SLC26A4):c.1544+5G>A
|
rs1057521147
|
|
NM_000441.2(SLC26A4):c.1545-1G>A
|
|
|
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)
|
rs765197819
|
|
NM_000441.2(SLC26A4):c.1588T>G (p.Tyr530Asp)
|
|
|
NM_000441.2(SLC26A4):c.1614+5G>A
|
|
|
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp)
|
rs939755872
|
|
NM_000441.2(SLC26A4):c.1707+2T>G
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.1734TAA[1] (p.Asn579del)
|
|
|
NM_000441.2(SLC26A4):c.1803+2T>C
|
rs768454870
|
|
NM_000441.2(SLC26A4):c.1976T>C (p.Val659Ala)
|
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.1999T>C (p.Phe667Leu)
|
|
|
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly)
|
rs886061887
|
|
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.2034+1G>A
|
rs759683649
|
|
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)
|
rs111033344
|
|
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)
|
rs2129309202
|
|
NM_000441.2(SLC26A4):c.290T>A (p.Val97Glu)
|
|
|
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
|
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.305-1G>C
|
rs1243584839
|
|
NM_000441.2(SLC26A4):c.305-2A>G
|
|
|
NM_000441.2(SLC26A4):c.316G>A (p.Ala106Thr)
|
rs2129311226
|
|
NM_000441.2(SLC26A4):c.335C>T (p.Pro112Leu)
|
rs2129311240
|
|
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.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.398C>T (p.Ser133Leu)
|
rs2129311271
|
|
NM_000441.2(SLC26A4):c.415+1G>C
|
rs2129311278
|
|
NM_000441.2(SLC26A4):c.416-2A>C
|
|
|
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
|
|
|
NM_000441.2(SLC26A4):c.439A>C (p.Met147Leu)
|
rs760413427
|
|
NM_000441.2(SLC26A4):c.466G>C (p.Ala156Pro)
|
|
|
NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs)
|
rs1584306754
|
|
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.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000441.2(SLC26A4):c.765+3A>C
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.765_765+3del
|
rs756076960
|
|
NM_000441.2(SLC26A4):c.84C>G (p.Ser28Arg)
|
|
|
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp)
|
rs1554352240
|
|
NM_000441.2(SLC26A4):c.908A>G (p.Glu303Gly)
|
|
|
NM_000441.2(SLC26A4):c.919-2A>C
|
|
|