NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_003235.5(TG):c.2610G>T (p.Gln870His)
|
rs2229843
|
0.00229
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)
|
rs137852684
|
0.00090
|
NM_003235.5(TG):c.886C>T (p.Arg296Ter)
|
rs121912648
|
0.00041
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00021
|
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_000549.5(TSHB):c.373del (p.Cys125fs)
|
rs755485552
|
0.00017
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)
|
rs121908088
|
0.00016
|
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)
|
rs121908083
|
0.00014
|
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)
|
rs119472029
|
0.00014
|
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter)
|
rs121912646
|
0.00011
|
NM_203395.3(IYD):c.658G>A (p.Ala220Thr)
|
rs121918140
|
0.00011
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter)
|
rs119472026
|
0.00007
|
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)
|
rs119472028
|
0.00006
|
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys)
|
rs121908085
|
0.00005
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)
|
rs770781635
|
0.00004
|
NM_203395.3(IYD):c.301C>T (p.Arg101Trp)
|
rs121918138
|
0.00004
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)
|
rs121909176
|
0.00003
|
NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)
|
rs121917847
|
0.00003
|
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)
|
rs121909341
|
0.00003
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)
|
rs121909180
|
0.00002
|
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)
|
rs121918670
|
0.00002
|
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)
|
rs121908871
|
0.00001
|
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)
|
rs121908869
|
0.00001
|
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)
|
rs121908865
|
0.00001
|
NM_000369.5(TSHR):c.545+3G>C
|
rs786205080
|
0.00001
|
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)
|
rs121908882
|
0.00001
|
NM_000441.2(SLC26A4):c.415+7A>G
|
rs765884316
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro)
|
rs121909174
|
0.00001
|
NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter)
|
rs121909175
|
0.00001
|
NM_000549.5(TSHB):c.162+5G>A
|
rs868637545
|
0.00001
|
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)
|
rs121908082
|
0.00001
|
NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln)
|
rs121908086
|
0.00001
|
NM_001206744.2(TPO):c.1955dup (p.Phe653fs)
|
rs1491142370
|
0.00001
|
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp)
|
rs121908087
|
0.00001
|
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs)
|
rs774713681
|
0.00001
|
NM_003235.5(TG):c.1143del (p.Tyr382fs)
|
rs778849740
|
0.00001
|
NM_003235.5(TG):c.5686+1G>T
|
rs374620255
|
0.00001
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg)
|
rs137854434
|
0.00001
|
NM_003301.7(TRHR):c.392T>C (p.Ile131Thr)
|
rs771222349
|
0.00001
|
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro)
|
rs137852685
|
0.00001
|
NM_024077.5(SECISBP2):c.1312A>T (p.Lys438Ter)
|
rs119461977
|
0.00001
|
NM_024077.5(SECISBP2):c.1619G>A (p.Arg540Gln)
|
rs119461976
|
0.00001
|
NM_203395.3(IYD):c.347T>C (p.Ile116Thr)
|
rs121918139
|
0.00001
|
NG_012930.1:g.7540_13728delins431
|
|
|
NM_000369.5(TSHR):c.1217_1234delinsCACG (p.Asn406fs)
|
rs2140110277
|
|
NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn)
|
rs121908868
|
|
NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro)
|
rs121908885
|
|
NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)
|
rs121908881
|
|
NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu)
|
rs121908870
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg)
|
rs121908884
|
|
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)
|
rs761918916
|
|
NM_000369.5(TSHR):c.500T>A (p.Ile167Asn)
|
rs121908862
|
|
NM_000369.5(TSHR):c.970C>T (p.Gln324Ter)
|
rs121908867
|
|
NM_000441.2(SLC26A4):c.1002-4C>G
|
rs2129315781
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)
|
rs121908360
|
|
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter)
|
rs1584344687
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter)
|
rs121909177
|
|
NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu)
|
rs121909179
|
|
NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg)
|
rs121909178
|
|
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg)
|
rs121918668
|
|
NM_000549.5(TSHB):c.94G>T (p.Glu32Ter)
|
rs121918669
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe)
|
rs104893669
|
|
NM_001206744.2(TPO):c.1496del (p.Pro499fs)
|
rs1573380429
|
|
NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser)
|
rs121908084
|
|
NM_001206744.2(TPO):c.2421dup (p.Cys808fs)
|
rs760307139
|
|
NM_001206744.2(TPO):c.2512del (p.Cys838fs)
|
rs1573459560
|
|
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter)
|
rs119472027
|
|
NM_001379150.1(IRS4):c.1772dup (p.Lys592fs)
|
rs780982673
|
|
NM_001379150.1(IRS4):c.3161_3165del (p.Cys1054fs)
|
rs1603336347
|
|
NM_001379150.1(IRS4):c.643G>T (p.Gly215Ter)
|
rs760832986
|
|
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del)
|
rs1556181091
|
|
NM_001555.5(IGSF1):c.2233del (p.Glu745fs)
|
rs398122920
|
|
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs)
|
rs1603404421
|
|
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro)
|
rs1603404413
|
|
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe)
|
rs397514622
|
|
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter)
|
rs398122919
|
|
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs)
|
rs398122921
|
|
NM_003235.5(TG):c.275-3C>G
|
rs1587166863
|
|
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg)
|
rs137854433
|
|
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg)
|
rs121912647
|
|
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr)
|
rs121912649
|
|
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser)
|
rs2076739
|
|
NM_003235.5(TG):c.6200-1G>C
|
rs1587678058
|
|
NM_003235.5(TG):c.638+1G>A
|
rs1587178555
|
|
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln)
|
rs121912650
|
|
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)
|
rs1586182837
|
|
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)
|
rs1586182912
|
|
NM_003466.4(PAX8):c.119A>C (p.Gln40Pro)
|
rs104893656
|
|
NM_003466.4(PAX8):c.143C>T (p.Ser48Phe)
|
rs121917719
|
|
NM_003466.4(PAX8):c.160A>G (p.Ser54Gly)
|
rs104893660
|
|
NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr)
|
rs104893659
|
|
NM_003466.4(PAX8):c.185T>G (p.Leu62Arg)
|
rs104893658
|
|
NM_003466.4(PAX8):c.322C>T (p.Arg108Ter)
|
rs104893655
|
|
NM_003466.4(PAX8):c.92G>A (p.Arg31His)
|
rs104893657
|
|
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)
|
rs1601844140
|
|
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr)
|
rs1601855785
|
|
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)
|
rs1601857538
|
|
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)
|
rs1601857555
|
|
NM_024077.5(SECISBP2):c.1212+29G>A
|
rs730880269
|
|
NM_024077.5(SECISBP2):c.800dup (p.Gly268_Glu269insTer)
|
rs1587875298
|
|
NM_199334.5(THRA):c.1110G>C (p.Lys370Asn)
|
rs137853163
|
|
NM_199334.5(THRA):c.1176C>A (p.Cys392Ter)
|
rs876657394
|
|
NM_199334.5(THRA):c.1193C>G (p.Pro398Arg)
|
rs876657396
|
|
NM_199334.5(THRA):c.1207G>A (p.Glu403Lys)
|
rs876657395
|
|
NM_199334.5(THRA):c.134G>T (p.Ser45Ile)
|
rs137853162
|
|
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)
|
rs863223276
|
|
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)
|
rs4774518
|
|