ClinVar Miner

List of variants studied for inherited thyroid metabolism disease

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1326
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.68-26T>C rs180203 0.99463
NM_001363711.2(DUOX2):c.3515+15T>A rs269869 0.99253
NM_203395.3(IYD):c.687+1305T>C rs612421 0.91223
NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly) rs2576090 0.86315
NM_003235.5(TG):c.5401+49G>C rs2246611 0.80881
NM_207581.4(DUOXA2):c.554+6T>C rs2576092 0.77669
NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu) rs2001616 0.75375
NM_003466.4(PAX8):c.*2309A>G rs1077855 0.75160
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) rs269868 0.71631
NM_207581.4(DUOXA2):c.555-18C>T rs955152 0.69516
NM_207581.4(DUOXA2):c.341-15C>T rs2252371 0.69439
NM_001206744.2(TPO):c.1193G>C (p.Ser398Thr) rs2175977 0.65696
NM_003235.5(TG):c.6056-22G>T rs1554541 0.62843
NM_001206744.2(TPO):c.2540T>C (p.Val847Ala) rs1126799 0.62508
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326 0.60247
NM_003235.5(TG):c.2334T>C (p.Pro778=) rs2069550 0.59900
NM_003235.5(TG):c.7501T>C (p.Trp2501Arg) rs2069569 0.59881
NM_003235.5(TG):c.4002+39C>G rs853318 0.57632
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln) rs1133076 0.56572
NM_003235.5(TG):c.4506T>C (p.Ala1502=) rs853304 0.55069
NM_001354712.2(THRB):c.*4988T>C rs1349265 0.52355
NM_003235.5(TG):c.7920C>T (p.Tyr2640=) rs2294024 0.49806
NM_003235.5(TG):c.3848-20T>C rs2261147 0.47593
NM_003235.5(TG):c.3935A>G (p.Asp1312Gly) rs2069556 0.47427
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro) rs732609 0.46998
NM_001354712.2(THRB):c.*1354A>G rs844107 0.45065
NM_001206744.2(TPO):c.1117G>T (p.Ala373Ser) rs2280132 0.43513
NM_003466.4(PAX8):c.*2478C>T rs2019137 0.41441
NM_003466.4(PAX8):c.*2146A>G rs895412 0.41369
NM_001206744.2(TPO):c.2145C>T (p.Pro715=) rs732608 0.41037
NM_003235.5(TG):c.5512G>A (p.Asp1838Asn) rs2069561 0.39534
NM_003235.5(TG):c.7408C>T (p.Leu2470=) rs2069568 0.38184
NM_001206744.2(TPO):c.*81C>G rs1042589 0.38164
NM_003466.4(PAX8):c.25+24T>C rs1867763 0.38004
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740 0.37641
NM_001206744.2(TPO):c.1998C>T (p.Asp666=) rs1126797 0.35994
NM_003466.4(PAX8):c.*1914C>G rs874898 0.32930
NM_003466.4(PAX8):c.*1006A>C rs1479 0.29017
NM_003466.4(PAX8):c.*1044A>C rs1478 0.28084
NM_000453.3(SLC5A5):c.1767+29A>G rs4808709 0.23067
NM_001354712.2(THRB):c.*454T>G rs826374 0.22993
NM_000453.3(SLC5A5):c.*226T>C rs12327843 0.22674
NM_001354712.2(THRB):c.*411A>G rs826375 0.22397
NM_001354712.2(THRB):c.*670A>G rs826372 0.21961
NM_001354712.2(THRB):c.*730G>C rs826371 0.21886
NM_001363711.2(DUOX2):c.*432G>A rs10851420 0.21152
NM_001354712.2(THRB):c.*5367C>T rs2167116 0.19585
NM_000453.3(SLC5A5):c.1652-9G>A rs4808708 0.18985
NM_003466.4(PAX8):c.*1000T>C rs1049137 0.18892
NM_001354712.2(THRB):c.*5728G>A rs17014136 0.18827
NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) rs57659670 0.17189
NM_001354712.2(THRB):c.735C>T (p.Phe245=) rs3752874 0.14868
NM_003235.5(TG):c.5921T>C (p.Met1974Thr) rs56230101 0.13536
NM_001354712.2(THRB):c.*5684G>A rs75272640 0.13464
NM_001354712.2(THRB):c.*5352C>T rs56204436 0.11733
NM_001354712.2(THRB):c.*2882G>A rs79270057 0.11634
NM_001354712.2(THRB):c.1144+9G>A rs13063628 0.11332
NM_001363711.2(DUOX2):c.*722G>A rs8024922 0.11058
NM_001363711.2(DUOX2):c.*453T>C rs3743222 0.10663
NM_001363711.2(DUOX2):c.2334+10C>T rs73406330 0.09464
NM_001206744.2(TPO):c.*115G>T rs28915689 0.09016
NM_001363711.2(DUOX2):c.4479C>G (p.Pro1493=) rs56323146 0.08342
NM_001363711.2(DUOX2):c.2286G>A (p.Gln762=) rs73406334 0.07585
NM_001363711.2(DUOX2):c.2148+9C>T rs73406337 0.07581
NM_001363711.2(DUOX2):c.*478G>A rs12324044 0.07275
NM_003235.5(TG):c.5119C>T (p.Pro1707Ser) rs61744678 0.07252
NM_003235.5(TG):c.5234-10T>C rs4736614 0.06877
NM_001363711.2(DUOX2):c.1962C>T (p.Gly654=) rs58361817 0.05875
NM_003235.5(TG):c.5549-9C>A rs77157347 0.05272
NM_003235.5(TG):c.5862A>G (p.Lys1954=) rs16904799 0.05269
NM_000453.3(SLC5A5):c.1326A>C (p.Thr442=) rs73520743 0.05215
NM_003466.4(PAX8):c.*187A>G rs78802229 0.05117
NM_001206744.2(TPO):c.2286C>T (p.Arg762=) rs13429240 0.04976
NM_001363711.2(DUOX2):c.2102G>A (p.Arg701Gln) rs113400262 0.04972
NM_001206744.2(TPO):c.2116A>G (p.Met706Val) rs13431173 0.04970
NM_001206744.2(TPO):c.2215+5A>C rs13431282 0.04969
NM_001206744.2(TPO):c.1852G>A (p.Val618Met) rs10189135 0.04964
NM_001363711.2(DUOX2):c.-42C>G rs112353868 0.04827
NM_003235.5(TG):c.3217+11A>C rs79594547 0.04535
NM_003235.5(TG):c.7264G>A (p.Ala2422Thr) rs73354644 0.04532
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) rs61741457 0.04126
NM_001363711.2(DUOX2):c.*37C>T rs75163715 0.04007
NM_003235.5(TG):c.5907G>A (p.Pro1969=) rs17693031 0.03986
NM_003235.5(TG):c.7578T>A (p.Phe2526Leu) rs12114109 0.03807
NM_001363711.2(DUOX2):c.3050A>G (p.Glu1017Gly) rs79393107 0.03767
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) rs16904774 0.03645
NM_000453.3(SLC5A5):c.-70C>T rs118133504 0.03423
NM_001354712.2(THRB):c.*2144G>C rs76054208 0.03256
NM_003235.5(TG):c.3933G>A (p.Ala1311=) rs16904786 0.03224
NM_001363711.2(DUOX2):c.1302A>G (p.Arg434=) rs78412174 0.03060
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) rs61744679 0.02642
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) rs61744749 0.02641
NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=) rs61730032 0.02613
NM_000453.3(SLC5A5):c.*987G>C rs76103356 0.02581
NM_001354712.2(THRB):c.*4340G>A rs78543378 0.02551
NM_001354712.2(THRB):c.1251T>C (p.Phe417=) rs13081063 0.02498
NM_003235.5(TG):c.1332C>T (p.Ile444=) rs61741629 0.02324
NM_001363711.2(DUOX2):c.1693+10G>A rs76411432 0.02317
NM_003235.5(TG):c.6055+7A>G rs73353474 0.02313
NM_000453.3(SLC5A5):c.1330-15C>T rs77947605 0.02076
NM_000453.3(SLC5A5):c.-24C>A rs73518702 0.02058
NM_001206744.2(TPO):c.1032C>G (p.Thr344=) rs28910597 0.02028
NM_003235.5(TG):c.6984C>G (p.Leu2328=) rs61745590 0.02022
NM_003235.5(TG):c.1821C>T (p.Thr607=) rs61742713 0.02018
NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=) rs45602038 0.02003
NM_003466.4(PAX8):c.*627T>A rs111411733 0.01952
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn) rs73520745 0.01778
NM_000453.3(SLC5A5):c.546C>T (p.Gly182=) rs8103545 0.01705
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe) rs114796303 0.01634
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_003235.5(TG):c.1543C>G (p.Gln515Glu) rs180222 0.01589
NM_001354712.2(THRB):c.*4611del rs147687234 0.01502
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) rs73710715 0.01452
NM_003235.5(TG):c.353C>T (p.Pro118Leu) rs114322847 0.01424
NM_001206744.2(TPO):c.1566T>C (p.Ala522=) rs17091745 0.01414
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) rs61743198 0.01391
NM_001363711.2(DUOX2):c.3261G>A (p.Ala1087=) rs79480907 0.01330
NM_003235.5(TG):c.3494A>G (p.Tyr1165Cys) rs61746583 0.01329
NM_001354712.2(THRB):c.*361G>A rs111304854 0.01300
NM_003466.4(PAX8):c.*1765G>A rs144041400 0.01281
NM_003235.5(TG):c.1958G>A (p.Gly653Asp) rs2069548 0.01198
NM_000453.3(SLC5A5):c.-36C>T rs116154266 0.01157
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_003235.5(TG):c.4365C>T (p.Asp1455=) rs57453794 0.01068
NM_203395.3(IYD):c.323A>G (p.Asn108Ser) rs111758467 0.01029
NM_001354712.2(THRB):c.*4796T>C rs139568686 0.00937
NM_003235.5(TG):c.199G>A (p.Gly67Ser) rs116340633 0.00924
NM_001206744.2(TPO):c.180-6C>A rs78253418 0.00923
NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=) rs112428007 0.00914
NM_001206744.2(TPO):c.1491C>T (p.Ile497=) rs149718460 0.00903
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_003235.5(TG):c.2761+14T>C rs76286566 0.00834
NM_003235.5(TG):c.1890A>G (p.Gln630=) rs2228590 0.00831
NM_000453.3(SLC5A5):c.*720G>A rs186287175 0.00822
NM_001206744.2(TPO):c.-51C>T rs28909986 0.00816
NM_003235.5(TG):c.5219C>A (p.Thr1740Lys) rs16904791 0.00801
NM_001363711.2(DUOX2):c.4080+7G>A rs115310278 0.00766
NM_001354712.2(THRB):c.*2316A>G rs113984059 0.00725
NM_000453.3(SLC5A5):c.1058+8C>T rs189249326 0.00723
NM_003466.4(PAX8):c.479-6C>T rs76792774 0.00703
NM_001206744.2(TPO):c.1728G>A (p.Ala576=) rs78406347 0.00702
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_003235.5(TG):c.1434G>A (p.Val478=) rs116254142 0.00692
NM_001354712.2(THRB):c.*1104T>C rs79097039 0.00679
NM_000453.3(SLC5A5):c.839+11C>T rs182064161 0.00650
NM_001354712.2(THRB):c.*1049G>A rs147770624 0.00648
NM_000453.3(SLC5A5):c.*862C>T rs80177071 0.00639
NM_001354712.2(THRB):c.*4975G>C rs146338850 0.00638
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) rs114406277 0.00629
NM_000453.3(SLC5A5):c.424-12C>A rs142231563 0.00627
NM_001363711.2(DUOX2):c.3435C>T (p.His1145=) rs150893514 0.00617
NM_001354712.2(THRB):c.*195C>T rs149091062 0.00610
NM_001354712.2(THRB):c.*1375C>T rs142386334 0.00598
NM_003235.5(TG):c.7539C>T (p.Asp2513=) rs114539802 0.00591
NM_003466.4(PAX8):c.1087+4C>T rs111481416 0.00545
NM_003466.4(PAX8):c.1143C>T (p.Ser381=) rs145036350 0.00516
NM_001206744.2(TPO):c.2387-12T>C rs28912997 0.00509
NM_001354712.2(THRB):c.*3929G>A rs549973481 0.00508
NM_001354712.2(THRB):c.*1284A>C rs115153721 0.00494
NM_001206744.2(TPO):c.2749-4G>A rs28915686 0.00476
NM_003235.5(TG):c.7755-9T>G rs190979363 0.00473
NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) rs45531732 0.00469
NM_003466.4(PAX8):c.*1807C>G rs138533336 0.00464
NM_001363711.2(DUOX2):c.3042G>A (p.Ala1014=) rs112598817 0.00449
NM_003235.5(TG):c.1296G>A (p.Gln432=) rs61741609 0.00444
NM_001354712.2(THRB):c.*1334C>T rs192044256 0.00443
NM_003235.5(TG):c.2793T>C (p.Arg931=) rs61736710 0.00443
NM_003235.5(TG):c.3313G>A (p.Val1105Ile) rs115670342 0.00443
NM_000453.3(SLC5A5):c.*256T>C rs527241494 0.00440
NM_003235.5(TG):c.3906G>A (p.Pro1302=) rs2294003 0.00435
NM_003235.5(TG):c.5856G>A (p.Arg1952=) rs115476696 0.00430
NM_000453.3(SLC5A5):c.*130A>G rs532170177 0.00425
NM_001354712.2(THRB):c.*5533G>A rs548437052 0.00415
NM_003235.5(TG):c.1269C>T (p.Arg423=) rs115916398 0.00412
NM_003235.5(TG):c.2561G>A (p.Arg854Gln) rs115361039 0.00408
NM_001363711.2(DUOX2):c.*1064G>A rs117341314 0.00392
NM_000453.3(SLC5A5):c.*215C>T rs13344000 0.00387
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_001354712.2(THRB):c.*2616T>G rs150170704 0.00360
NM_001354712.2(THRB):c.*1409T>C rs148766881 0.00355
NM_003235.5(TG):c.325A>G (p.Ile109Val) rs35301433 0.00350
NM_003235.5(TG):c.3129C>T (p.His1043=) rs112300885 0.00347
NM_003235.5(TG):c.144C>T (p.Tyr48=) rs114436500 0.00345
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001363711.2(DUOX2):c.3081G>A (p.Lys1027=) rs78876145 0.00338
NM_001354712.2(THRB):c.*4129C>G rs142926795 0.00333
NM_001363711.2(DUOX2):c.501C>T (p.Asn167=) rs76681174 0.00333
NM_003235.5(TG):c.4484T>C (p.Val1495Ala) rs61740825 0.00330
NM_001363711.2(DUOX2):c.3759G>A (p.Pro1253=) rs140663764 0.00307
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser) rs553859355 0.00298
NM_003235.5(TG):c.6783-3C>T rs143075252 0.00297
NM_003466.4(PAX8):c.885C>T (p.Tyr295=) rs112872760 0.00293
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001363711.2(DUOX2):c.633C>T (p.Phe211=) rs35157799 0.00277
NM_000453.3(SLC5A5):c.*353C>T rs188334435 0.00270
NM_003466.4(PAX8):c.1189+15G>A rs149585280 0.00262
NM_001354712.2(THRB):c.*1802G>A rs181974876 0.00242
NM_003235.5(TG):c.6200-7T>A rs79724982 0.00240
NM_001206744.2(TPO):c.2717C>T (p.Pro906Leu) rs138289170 0.00239
NM_003235.5(TG):c.7083G>T (p.Ala2361=) rs116723711 0.00239
NM_001363711.2(DUOX2):c.558C>T (p.Gly186=) rs2467830 0.00234
NM_003466.4(PAX8):c.*703G>A rs141475261 0.00233
NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=) rs139095108 0.00232
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_003466.4(PAX8):c.*1457G>A rs532372672 0.00208
NM_001354712.2(THRB):c.*2786G>T rs143575270 0.00207
NM_003235.5(TG):c.537A>G (p.Ser179=) rs114875802 0.00203
NM_001354712.2(THRB):c.*468G>A rs190078914 0.00200
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) rs115436575 0.00198
NM_001206744.2(TPO):c.2242G>A (p.Val748Met) rs28991292 0.00197
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) rs138469414 0.00197
NM_001354712.2(THRB):c.*2912A>G rs116321631 0.00196
NM_001206744.2(TPO):c.1483G>A (p.Ala495Thr) rs28910612 0.00187
NM_000453.3(SLC5A5):c.*830C>T rs138127009 0.00186
NM_001363711.2(DUOX2):c.1197G>A (p.Ser399=) rs146745678 0.00185
NM_001354712.2(THRB):c.*3459C>T rs554571353 0.00183
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) rs139786814 0.00183
NM_003235.5(TG):c.3647C>T (p.Pro1216Leu) rs142335537 0.00182
NM_003235.5(TG):c.6646A>G (p.Ile2216Val) rs138690529 0.00179
NM_001206744.2(TPO):c.1317G>A (p.Lys439=) rs28910598 0.00175
NM_003235.5(TG):c.6351T>G (p.Thr2117=) rs145367055 0.00172
NM_001354712.2(THRB):c.*107G>C rs72619908 0.00170
NM_003235.5(TG):c.7782C>T (p.Ile2594=) rs139055416 0.00169
NM_000453.3(SLC5A5):c.*14C>T rs185148597 0.00168
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) rs115936153 0.00159
NM_001363711.2(DUOX2):c.3558C>T (p.Thr1186=) rs140393165 0.00151
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) rs74590117 0.00151
NM_001363711.2(DUOX2):c.1911C>T (p.Ser637=) rs144100380 0.00148
NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) rs2467828 0.00148
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00146
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg) rs190431939 0.00146
NM_001363711.2(DUOX2):c.4207T>A (p.Ser1403Thr) rs144186721 0.00144
NM_003235.5(TG):c.2980A>G (p.Ile994Val) rs111363334 0.00143
NM_003235.5(TG):c.4193G>A (p.Arg1398His) rs115263899 0.00143
NM_001206744.2(TPO):c.95-14A>G rs116390200 0.00140
NM_003235.5(TG):c.7449C>T (p.Ile2483=) rs115806626 0.00138
NM_000453.3(SLC5A5):c.1780C>T (p.Leu594Phe) rs140990171 0.00136
NM_001206744.2(TPO):c.840G>A (p.Pro280=) rs187974063 0.00135
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) rs116062097 0.00135
NM_003466.4(PAX8):c.*2276G>A rs189067014 0.00135
NM_001363711.2(DUOX2):c.514-14C>G rs533037683 0.00134
NM_001206744.2(TPO):c.612+15C>T rs182021224 0.00133
NM_003235.5(TG):c.1075+8T>G rs184523779 0.00133
NM_000453.3(SLC5A5):c.*551G>A rs141730977 0.00131
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00130
NM_003235.5(TG):c.3804C>T (p.Ser1268=) rs61747461 0.00130
NM_001354712.2(THRB):c.*227A>G rs544546433 0.00128
NM_001363711.2(DUOX2):c.*1145C>T rs191997510 0.00127
NM_001363711.2(DUOX2):c.303C>A (p.Arg101=) rs117041393 0.00124
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_001354712.2(THRB):c.*5429C>G rs141920435 0.00120
NM_003235.5(TG):c.3057C>T (p.Ser1019=) rs116032324 0.00120
NM_003235.5(TG):c.5855G>A (p.Arg1952Gln) rs141191791 0.00120
NM_001206744.2(TPO):c.2386+8C>G rs183118123 0.00114
NM_003235.5(TG):c.426C>T (p.Asp142=) rs114477962 0.00113
NM_001363711.2(DUOX2):c.*624C>T rs143376422 0.00111
NM_001354712.2(THRB):c.*4762G>A rs567375785 0.00110
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001206744.2(TPO):c.*113G>A rs28915688 0.00107
NM_001206744.2(TPO):c.208C>G (p.Pro70Ala) rs17855780 0.00106
NM_001354712.2(THRB):c.*1561T>G rs367583791 0.00101
NM_000453.3(SLC5A5):c.*575G>A rs528150801 0.00100
NM_001206744.2(TPO):c.2536C>T (p.Arg846Trp) rs28913014 0.00100
NM_001206744.2(TPO):c.*54C>T rs180847489 0.00099
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00099
NM_003235.5(TG):c.7737T>C (p.Ala2579=) rs145611717 0.00098
NM_000453.3(SLC5A5):c.*1273A>G rs187096710 0.00094
NM_001354712.2(THRB):c.*2534G>A rs530873073 0.00091
NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) rs138971379 0.00091
NM_001363711.2(DUOX2):c.70+15C>A rs138005153 0.00091
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_001354712.2(THRB):c.*5262C>T rs550799208 0.00089
NM_003235.5(TG):c.3983G>A (p.Arg1328His) rs141146573 0.00086
NM_003466.4(PAX8):c.*204C>A rs575199444 0.00086
NM_003235.5(TG):c.4323G>A (p.Ser1441=) rs769654694 0.00085
NM_001206744.2(TPO):c.2499C>T (p.Asp833=) rs142148533 0.00083
NM_001363711.2(DUOX2):c.4098G>A (p.Pro1366=) rs150609056 0.00083
NM_001354712.2(THRB):c.*1372C>A rs147542176 0.00081
NM_001354712.2(THRB):c.*1302A>G rs181584465 0.00079
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00078
NM_001206744.2(TPO):c.660C>T (p.Val220=) rs151154074 0.00076
NM_001354712.2(THRB):c.*4055C>T rs575539914 0.00076
NM_003466.4(PAX8):c.129G>A (p.Arg43=) rs75444177 0.00076
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_001354712.2(THRB):c.*3017C>T rs144174027 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_001363711.2(DUOX2):c.888C>T (p.Ile296=) rs144183694 0.00070
NM_001206744.2(TPO):c.1758C>T (p.His586=) rs151122101 0.00069
NM_001354712.2(THRB):c.*2346T>C rs570471899 0.00068
NM_001354712.2(THRB):c.*2347C>G rs558492958 0.00068
NM_001354712.2(THRB):c.*301G>A rs553434633 0.00068
NM_001363711.2(DUOX2):c.381G>A (p.Glu127=) rs569561856 0.00066
NM_003466.4(PAX8):c.*2368C>T rs150097052 0.00065
NM_001354712.2(THRB):c.*3143T>C rs192001851 0.00062
NM_001363711.2(DUOX2):c.*665G>A rs3743221 0.00061
NM_001363711.2(DUOX2):c.514-4G>A rs374243549 0.00061
NM_003466.4(PAX8):c.*2320G>A rs138391311 0.00061
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.5984A>G (p.Glu1995Gly) rs190914906 0.00058
NM_001354712.2(THRB):c.*3292G>A rs144912030 0.00056
NM_001363711.2(DUOX2):c.243G>A (p.Pro81=) rs369158930 0.00056
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) rs146664125 0.00056
NM_003235.5(TG):c.3024C>T (p.Arg1008=) rs143929015 0.00055
NM_003235.5(TG):c.4563G>A (p.Leu1521=) rs115981067 0.00054
NM_003466.4(PAX8):c.*2044G>C rs143820836 0.00054
NM_003235.5(TG):c.1900G>A (p.Gly634Arg) rs116417639 0.00053
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00052
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser) rs142014480 0.00051
NM_001206744.2(TPO):c.2051G>A (p.Arg684His) rs151064519 0.00051
NM_001354712.2(THRB):c.*5701A>T rs529651896 0.00051
NM_001363711.2(DUOX2):c.3185-9C>T rs148813922 0.00051
NM_001363711.2(DUOX2):c.*418T>C rs183535338 0.00049
NM_003235.5(TG):c.6819G>A (p.Thr2273=) rs780709015 0.00049
NM_000453.3(SLC5A5):c.330C>T (p.Tyr110=) rs145238835 0.00048
NM_003235.5(TG):c.1802C>T (p.Thr601Met) rs139516987 0.00048
NM_003235.5(TG):c.3139+9G>A rs201582196 0.00048
NM_003235.5(TG):c.7335A>T (p.Ser2445=) rs146491847 0.00048
NM_003466.4(PAX8):c.*844C>T rs183711194 0.00048
NM_003466.4(PAX8):c.*1066G>A rs147293224 0.00047
NM_003466.4(PAX8):c.*845G>A rs536050658 0.00047
NM_003235.5(TG):c.2150G>A (p.Arg717Gln) rs200611812 0.00046
NM_001354712.2(THRB):c.*5194A>G rs545003746 0.00045
NM_003235.5(TG):c.4859C>T (p.Thr1620Met) rs115902639 0.00044
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) rs138774384 0.00043
NM_003235.5(TG):c.1573G>A (p.Gly525Arg) rs140232663 0.00043
NM_003466.4(PAX8):c.*1029G>A rs527418580 0.00043
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) rs142998186 0.00042
NM_003235.5(TG):c.958C>T (p.Arg320Cys) rs138561283 0.00042
NM_001206744.2(TPO):c.2212C>G (p.Gln738Glu) rs200796513 0.00041
NM_001363711.2(DUOX2):c.-75C>T rs534912442 0.00041
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_003466.4(PAX8):c.*938C>G rs886054788 0.00041
NM_000453.3(SLC5A5):c.1768-11C>T rs188874441 0.00040
NM_003235.5(TG):c.8202C>T (p.Gly2734=) rs142157473 0.00040
NM_001363711.2(DUOX2):c.*914G>T rs137909525 0.00039
NM_003235.5(TG):c.4527C>T (p.His1509=) rs201216611 0.00039
NM_003235.5(TG):c.6952G>A (p.Asp2318Asn) rs201930579 0.00039
NM_000453.3(SLC5A5):c.*1135C>T rs181799129 0.00038
NM_001206744.2(TPO):c.94+13C>T rs184087573 0.00038
NM_001363711.2(DUOX2):c.3531G>T (p.Gln1177His) rs144254445 0.00038
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_003466.4(PAX8):c.*2475C>T rs551249311 0.00038
NM_000453.3(SLC5A5):c.*17G>A rs371679177 0.00037
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_001363711.2(DUOX2):c.*227C>T rs754945416 0.00036
NM_003235.5(TG):c.6605C>G (p.Pro2202Arg) rs150133670 0.00035
NM_001206744.2(TPO):c.404C>A (p.Pro135His) rs61758083 0.00034
NM_001354712.2(THRB):c.*3163A>G rs560923192 0.00034
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) rs201703879 0.00034
NM_001354712.2(THRB):c.1125C>T (p.Ala375=) rs148991421 0.00033
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) rs114211101 0.00032
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
NM_001363711.2(DUOX2):c.204T>G (p.Gly68=) rs185014205 0.00031
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) rs147945181 0.00031
NM_003466.4(PAX8):c.*897C>T rs745424024 0.00031
NM_001354712.2(THRB):c.*1662T>C rs187291821 0.00030
NM_001363711.2(DUOX2):c.*1437C>T rs575405401 0.00030
NM_003466.4(PAX8):c.1227C>G (p.Pro409=) rs190681011 0.00030
NM_001363711.2(DUOX2):c.2785C>T (p.Arg929Trp) rs200238968 0.00029
NM_003466.4(PAX8):c.1242C>T (p.Ser414=) rs200817352 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000453.3(SLC5A5):c.-184C>T rs534574809 0.00028
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser) rs114070375 0.00028
NM_001363711.2(DUOX2):c.*1203C>T rs551654008 0.00028
NM_003235.5(TG):c.1325A>G (p.Glu442Gly) rs149822114 0.00028
NM_003235.5(TG):c.993G>C (p.Gln331His) rs61745783 0.00028
NM_003466.4(PAX8):c.*501C>T rs573072931 0.00028
NM_001354712.2(THRB):c.-367G>A rs1026480434 0.00027
NM_003235.5(TG):c.5864-7T>C rs199728785 0.00027
NM_003235.5(TG):c.5375G>A (p.Arg1792His) rs140063357 0.00026
NM_003466.4(PAX8):c.1116C>T (p.Pro372=) rs189229644 0.00026
NM_001363711.2(DUOX2):c.1836T>C (p.Ser612=) rs139688032 0.00025
NM_001363711.2(DUOX2):c.3041C>T (p.Ala1014Val) rs144759209 0.00025
NM_003235.5(TG):c.198C>T (p.Asp66=) rs141082783 0.00025
NM_003466.4(PAX8):c.*708C>T rs768371093 0.00025
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) rs199939219 0.00025
NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=) rs117626343 0.00024
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg) rs201659055 0.00024
NM_001354712.2(THRB):c.1299C>T (p.Ala433=) rs144206187 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_003235.5(TG):c.3001+6T>G rs372517082 0.00024
NM_003466.4(PAX8):c.700G>A (p.Glu234Lys) rs201093713 0.00024
NM_003235.5(TG):c.7364G>A (p.Arg2455His) rs2272707 0.00023
NM_003466.4(PAX8):c.-63C>A rs866836744 0.00023
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_001354712.2(THRB):c.*2105T>G rs138358071 0.00022
NM_001363711.2(DUOX2):c.2395C>T (p.Arg799Trp) rs200104538 0.00022
NM_001363711.2(DUOX2):c.3127G>A (p.Val1043Met) rs201263758 0.00022
NM_003235.5(TG):c.4743C>T (p.Phe1581=) rs146574874 0.00022
NM_000453.3(SLC5A5):c.839+13G>A rs186878627 0.00021
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu) rs201781919 0.00021
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00021
NM_003235.5(TG):c.2819A>C (p.Glu940Ala) rs200208174 0.00021
NM_003466.4(PAX8):c.*2193G>A rs148816725 0.00021
NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) rs141573582 0.00020
NM_003235.5(TG):c.6324G>A (p.Arg2108=) rs186519521 0.00020
NM_003235.5(TG):c.94C>T (p.Arg32Cys) rs371315184 0.00020
NM_001206744.2(TPO):c.9G>A (p.Ala3=) rs61758084 0.00019
NM_001354712.2(THRB):c.*1959C>T rs149588565 0.00019
NM_001354712.2(THRB):c.-404T>C rs528311159 0.00019
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His) rs374614801 0.00019
NM_003235.5(TG):c.1389C>T (p.Asn463=) rs145681459 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_003235.5(TG):c.5485C>T (p.Arg1829Trp) rs148982115 0.00019
NM_000453.3(SLC5A5):c.*344C>T rs886054293 0.00018
NM_001354712.2(THRB):c.*4917G>A rs539558452 0.00018
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_001363711.2(DUOX2):c.2335-3C>T rs369394906 0.00017
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
NM_000453.3(SLC5A5):c.*1136G>A rs764090914 0.00016
NM_001206744.2(TPO):c.*144T>C rs767835569 0.00016
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu) rs141495471 0.00016
NM_001363711.2(DUOX2):c.*778C>A rs370048785 0.00016
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_003235.5(TG):c.2686C>T (p.Arg896Trp) rs142469107 0.00016
NM_003235.5(TG):c.4862C>A (p.Thr1621Lys) rs112003182 0.00016
NM_000453.3(SLC5A5):c.*277T>C rs148592461 0.00015
NM_000453.3(SLC5A5):c.*343T>C rs886054292 0.00015
NM_001206744.2(TPO):c.501C>T (p.Gly167=) rs370072872 0.00015
NM_001363711.2(DUOX2):c.*1438G>A rs368901021 0.00015
NM_003235.5(TG):c.5071C>T (p.Arg1691Cys) rs375968742 0.00015
NM_003466.4(PAX8):c.898+11C>T rs377714129 0.00015
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001206744.2(TPO):c.2007-5T>C rs374558153 0.00014
NM_001354712.2(THRB):c.*5257C>A rs577817279 0.00014
NM_001354712.2(THRB):c.*5386G>C rs947963207 0.00014
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) rs140035596 0.00014
NM_003235.5(TG):c.1862C>T (p.Thr621Met) rs144254329 0.00014
NM_003235.5(TG):c.3776C>T (p.Pro1259Leu) rs183333809 0.00014
NM_003235.5(TG):c.5863+14G>A rs758834729 0.00014
NM_003235.5(TG):c.5864-8C>T rs189500765 0.00014
NM_003235.5(TG):c.981G>A (p.Ala327=) rs146255464 0.00014
NM_001206744.2(TPO):c.2703C>T (p.Ala901=) rs141684908 0.00013
NM_001354712.2(THRB):c.*368C>T rs543041615 0.00013
NM_001354712.2(THRB):c.283+12T>C rs372413180 0.00013
NM_001363711.2(DUOX2):c.3660G>A (p.Leu1220=) rs757964910 0.00013
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) rs190660925 0.00013
NM_003235.5(TG):c.4257G>A (p.Ala1419=) rs116314916 0.00013
NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser) rs199820445 0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_000453.3(SLC5A5):c.*1248C>T rs76301117 0.00012
NM_001206744.2(TPO):c.2241C>T (p.Ser747=) rs373350060 0.00012
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00012
NM_001363711.2(DUOX2):c.2335G>A (p.Val779Met) rs145061993 0.00012
NM_001363711.2(DUOX2):c.3006-2A>G rs371960046 0.00012
NM_001363711.2(DUOX2):c.4432C>T (p.Arg1478Trp) rs371970228 0.00012
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00012
NM_003466.4(PAX8):c.*664T>C rs868036257 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_003466.4(PAX8):c.981C>T (p.Ser327=) rs552812059 0.00012
NM_000453.3(SLC5A5):c.*606C>T rs886054295 0.00011
NM_001206744.2(TPO):c.502G>A (p.Ala168Thr) rs150812908 0.00011
NM_001354712.2(THRB):c.*4996T>C rs981440598 0.00011
NM_001354712.2(THRB):c.1053C>T (p.Asp351=) rs115445992 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_003235.5(TG):c.1628C>G (p.Thr543Ser) rs763864684 0.00011
NM_003235.5(TG):c.1963C>T (p.Gln655Ter) rs771807370 0.00011
NM_003235.5(TG):c.2652A>C (p.Ser884=) rs115199914 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_003235.5(TG):c.4990G>A (p.Val1664Met) rs180705321 0.00011
NM_003235.5(TG):c.6563-3C>T rs200211140 0.00011
NM_003235.5(TG):c.7020C>T (p.Phe2340=) rs756155224 0.00011
NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) rs199844947 0.00011
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr) rs121918140 0.00011
NM_001206744.2(TPO):c.2422del (p.Cys808fs) rs763662774 0.00010
NM_001354712.2(THRB):c.*3595G>C rs572325175 0.00010
NM_001354712.2(THRB):c.648C>T (p.Asp216=) rs143993214 0.00010
NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) rs200948626 0.00010
NM_003235.5(TG):c.5718C>T (p.Leu1906=) rs145744799 0.00010
NM_000453.3(SLC5A5):c.435C>T (p.Thr145=) rs780690857 0.00009
NM_001206744.2(TPO):c.1899T>C (p.Asp633=) rs199621917 0.00009
NM_001206744.2(TPO):c.612G>A (p.Pro204=) rs3732349 0.00009
NM_001206744.2(TPO):c.617G>A (p.Arg206Gln) rs144088710 0.00009
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) rs148683218 0.00009
NM_001354712.2(THRB):c.*3357C>G rs149846483 0.00009
NM_001354712.2(THRB):c.*4714T>C rs577889185 0.00009
NM_001354712.2(THRB):c.-261+5G>C rs770619537 0.00009
NM_001354712.2(THRB):c.68G>A (p.Arg23Gln) rs200124942 0.00009
NM_001363711.2(DUOX2):c.3175C>T (p.Arg1059Cys) rs145502900 0.00009
NM_001363711.2(DUOX2):c.414C>T (p.Pro138=) rs757849047 0.00009
NM_003235.5(TG):c.2299G>A (p.Gly767Arg) rs144826790 0.00009
NM_003235.5(TG):c.6498T>C (p.Ser2166=) rs200367054 0.00009
NM_003235.5(TG):c.7648G>A (p.Glu2550Lys) rs199724462 0.00009
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) rs778410503 0.00009
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001206744.2(TPO):c.2500G>A (p.Asp834Asn) rs368163933 0.00008
NM_001354712.2(THRB):c.*5166G>C rs376751863 0.00008
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001363711.2(DUOX2):c.883-13C>G rs368847158 0.00008
NM_003235.5(TG):c.2295C>T (p.Thr765=) rs199983151 0.00008
NM_003235.5(TG):c.2330C>T (p.Pro777Leu) rs3739274 0.00008
NM_003235.5(TG):c.4443C>T (p.Tyr1481=) rs201691879 0.00008
NM_003235.5(TG):c.7640T>A (p.Leu2547Gln) rs2979042 0.00008
NM_003466.4(PAX8):c.324A>T (p.Arg108=) rs967278406 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys) rs577226533 0.00007
NM_001206744.2(TPO):c.491C>A (p.Pro164His) rs146913878 0.00007
NM_001354712.2(THRB):c.*3981C>T rs751368376 0.00007
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_001363711.2(DUOX2):c.163T>C (p.Cys55Arg) rs775647342 0.00007
NM_001363711.2(DUOX2):c.3098G>A (p.Arg1033His) rs370772159 0.00007
NM_001363711.2(DUOX2):c.3910C>T (p.Arg1304Trp) rs534696164 0.00007
NM_001363711.2(DUOX2):c.602G>A (p.Gly201Glu) rs753880185 0.00007
NM_003235.5(TG):c.2018T>C (p.Met673Thr) rs140030169 0.00007
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00007
NM_003235.5(TG):c.4093A>T (p.Asn1365Tyr) rs142264604 0.00007
NM_003235.5(TG):c.7136G>A (p.Arg2379His) rs377043149 0.00007
NM_003466.4(PAX8):c.*372C>T rs538590834 0.00007
NM_000453.3(SLC5A5):c.1725C>T (p.Ala575=) rs772716852 0.00006
NM_000453.3(SLC5A5):c.358-7C>A rs368445837 0.00006
NM_001206744.2(TPO):c.*55G>A rs529769659 0.00006
NM_001206744.2(TPO):c.2306G>A (p.Arg769Gln) rs200684166 0.00006
NM_001354712.2(THRB):c.*1153C>G rs886058289 0.00006
NM_001354712.2(THRB):c.*2332G>A rs779322220 0.00006
NM_001354712.2(THRB):c.*4205A>G rs376819021 0.00006
NM_001354712.2(THRB):c.*5122A>C rs886058267 0.00006
NM_001354712.2(THRB):c.*5247T>A rs1016520908 0.00006
NM_001354712.2(THRB):c.*693G>A rs750865217 0.00006
NM_001363711.2(DUOX2):c.*1428G>A rs770917174 0.00006
NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys) rs199918362 0.00006
NM_001363711.2(DUOX2):c.1786C>T (p.Pro596Ser) rs373790251 0.00006
NM_001363711.2(DUOX2):c.2427C>T (p.Ala809=) rs369335936 0.00006
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.2609A>G (p.Asp870Gly) rs143258582 0.00006
NM_001363711.2(DUOX2):c.3449A>G (p.Tyr1150Cys) rs200000982 0.00006
NM_001363711.2(DUOX2):c.3540T>C (p.Tyr1180=) rs745999464 0.00006
NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) rs201261436 0.00006
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00006
NM_001363711.2(DUOX2):c.3820G>A (p.Val1274Met) rs764364832 0.00006
NM_001363711.2(DUOX2):c.498C>A (p.Ser166Arg) rs370438048 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_003235.5(TG):c.2788C>T (p.Leu930Phe) rs554879042 0.00006
NM_003235.5(TG):c.3098C>T (p.Ala1033Val) rs780538772 0.00006
NM_003235.5(TG):c.4267C>T (p.Arg1423Cys) rs200236155 0.00006
NM_003235.5(TG):c.554C>T (p.Ala185Val) rs142432006 0.00006
NM_003466.4(PAX8):c.*423C>T rs774457240 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_000453.3(SLC5A5):c.*161C>T rs886054284 0.00005
NM_000453.3(SLC5A5):c.*898G>A rs886054298 0.00005
NM_001206744.2(TPO):c.1863G>A (p.Lys621=) rs373213982 0.00005
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) rs121908085 0.00005
NM_001363711.2(DUOX2):c.1949T>C (p.Met650Thr) rs752426361 0.00005
NM_001363711.2(DUOX2):c.2148+10G>A rs745702141 0.00005
NM_001363711.2(DUOX2):c.2212G>A (p.Val738Met) rs142350563 0.00005
NM_001363711.2(DUOX2):c.4080+6C>T rs747176882 0.00005
NM_003235.5(TG):c.138A>G (p.Ala46=) rs751930232 0.00005
NM_003235.5(TG):c.3171G>C (p.Gly1057=) rs772388199 0.00005
NM_003235.5(TG):c.4746C>T (p.Asp1582=) rs374297725 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_000453.3(SLC5A5):c.*1217A>G rs886054299 0.00004
NM_001206744.2(TPO):c.*124G>C rs747816995 0.00004
NM_001206744.2(TPO):c.-1-11G>A rs777940436 0.00004
NM_001206744.2(TPO):c.1037C>T (p.Ala346Val) rs750980404 0.00004
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter) rs749174434 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_001206744.2(TPO):c.2577C>T (p.Ile859=) rs760976450 0.00004
NM_001206744.2(TPO):c.2758G>C (p.Gly920Arg) rs780185747 0.00004
NM_001206744.2(TPO):c.387del (p.Asn129fs) rs766399662 0.00004
NM_001206744.2(TPO):c.759C>T (p.Phe253=) rs757051221 0.00004
NM_001354712.2(THRB):c.*1960G>A rs1440318270 0.00004
NM_001354712.2(THRB):c.*243G>A rs761568064 0.00004
NM_001354712.2(THRB):c.*3219G>A rs1208012177 0.00004
NM_001354712.2(THRB):c.-229C>T rs999070701 0.00004
NM_001354712.2(THRB):c.693G>A (p.Ala231=) rs115360190 0.00004
NM_001363711.2(DUOX2):c.*417A>G rs766338385 0.00004
NM_001363711.2(DUOX2):c.1265G>A (p.Arg422His) rs201135069 0.00004
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs) rs772348846 0.00004
NM_001363711.2(DUOX2):c.2394G>A (p.Val798=) rs61753432 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.2676C>A (p.Asn892Lys) rs144774906 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.326-5C>T rs200837051 0.00004
NM_001363711.2(DUOX2):c.3483C>T (p.Ala1161=) rs567703268 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001363711.2(DUOX2):c.4036A>G (p.Ile1346Val) rs149848729 0.00004
NM_001363711.2(DUOX2):c.4409G>A (p.Arg1470Gln) rs138103904 0.00004
NM_003235.5(TG):c.1049G>A (p.Arg350Gln) rs113998044 0.00004
NM_003235.5(TG):c.105G>A (p.Glu35=) rs374559000 0.00004
NM_003235.5(TG):c.1762C>A (p.Pro588Thr) rs764293101 0.00004
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003235.5(TG):c.4151A>G (p.His1384Arg) rs548761622 0.00004
NM_003235.5(TG):c.475C>T (p.Arg159Ter) rs759267330 0.00004
NM_003235.5(TG):c.5304C>G (p.Pro1768=) rs752715398 0.00004
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) rs754658907 0.00004
NM_003235.5(TG):c.6518G>A (p.Arg2173Gln) rs377383606 0.00004
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys) rs555719562 0.00004
NM_003235.5(TG):c.6791G>A (p.Cys2264Tyr) rs1229345000 0.00004
NM_003235.5(TG):c.7248C>T (p.Ser2416=) rs774676063 0.00004
NM_003235.5(TG):c.8075C>T (p.Ala2692Val) rs775377530 0.00004
NM_003235.5(TG):c.8168C>T (p.Ser2723Leu) rs763672890 0.00004
NM_003466.4(PAX8):c.*2192C>T rs886054785 0.00004
NM_003466.4(PAX8):c.*2312G>A rs886054784 0.00004
NM_003466.4(PAX8):c.602G>A (p.Ser201Asn) rs202183277 0.00004
NM_003466.4(PAX8):c.817G>A (p.Asp273Asn) rs757960433 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_000453.3(SLC5A5):c.*410G>T rs1000543077 0.00003
NM_000453.3(SLC5A5):c.19G>A (p.Gly7Arg) rs371312154 0.00003
NM_000453.3(SLC5A5):c.657G>A (p.Val219=) rs201774834 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_001206744.2(TPO):c.1294G>A (p.Ala432Thr) rs886054900 0.00003
NM_001206744.2(TPO):c.1313G>A (p.Arg438His) rs1210957618 0.00003
NM_001206744.2(TPO):c.1338+5G>A rs886054901 0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2537G>A (p.Arg846Gln) rs141598673 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001206744.2(TPO):c.2702C>G (p.Ala901Gly) rs886054972 0.00003
NM_001354712.2(THRB):c.*1495G>A rs772529172 0.00003
NM_001354712.2(THRB):c.*2856C>T rs762935121 0.00003
NM_001354712.2(THRB):c.*3020G>T rs772300437 0.00003
NM_001354712.2(THRB):c.*3288C>T rs886058281 0.00003
NM_001354712.2(THRB):c.*3813G>A rs571340397 0.00003
NM_001354712.2(THRB):c.*4470T>C rs886058272 0.00003
NM_001354712.2(THRB):c.*4G>A rs777224982 0.00003
NM_001354712.2(THRB):c.*5295C>T rs752819506 0.00003
NM_001354712.2(THRB):c.126T>C (p.His42=) rs752303168 0.00003
NM_001354712.2(THRB):c.175A>G (p.Ile59Val) rs141172732 0.00003
NM_001354712.2(THRB):c.649G>A (p.Glu217Lys) rs368681026 0.00003
NM_001363711.2(DUOX2):c.*1315A>C rs886051187 0.00003
NM_001363711.2(DUOX2):c.*1357A>G rs886051186 0.00003
NM_001363711.2(DUOX2):c.*475G>A rs561532284 0.00003
NM_001363711.2(DUOX2):c.2335-8G>A rs532139907 0.00003
NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) rs778216481 0.00003
NM_001363711.2(DUOX2):c.3179C>T (p.Ala1060Val) rs186021702 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.4081-1G>A rs549559724 0.00003
NM_001363711.2(DUOX2):c.4396T>G (p.Tyr1466Asp) rs770412777 0.00003
NM_001363711.2(DUOX2):c.513+1G>C rs752635135 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_003235.4(TG):c.-55G>A rs1354715358 0.00003
NM_003235.5(TG):c.3407G>A (p.Arg1136Gln) rs750140968 0.00003
NM_003235.5(TG):c.4256C>T (p.Ala1419Val) rs374574993 0.00003
NM_003235.5(TG):c.4713T>C (p.Phe1571=) rs755948833 0.00003
NM_003235.5(TG):c.5003G>A (p.Ser1668Asn) rs372120245 0.00003
NM_003235.5(TG):c.5188C>T (p.Arg1730Cys) rs200793895 0.00003
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) rs375424292 0.00003
NM_003235.5(TG):c.6945G>A (p.Pro2315=) rs769872031 0.00003
NM_003235.5(TG):c.8238G>A (p.Thr2746=) rs200646022 0.00003
NM_003466.4(PAX8):c.*2033C>T rs531249238 0.00003
NM_003466.4(PAX8):c.81G>A (p.Pro27=) rs372324872 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_000453.3(SLC5A5):c.*422C>G rs886054294 0.00002
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
NM_000453.3(SLC5A5):c.1314G>A (p.Pro438=) rs775752734 0.00002
NM_000453.3(SLC5A5):c.686T>G (p.Ile229Ser) rs371763681 0.00002
NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys) rs768830989 0.00002
NM_001206744.2(TPO):c.2488G>A (p.Glu830Lys) rs145974595 0.00002
NM_001206744.2(TPO):c.2538G>C (p.Arg846=) rs747010460 0.00002
NM_001206744.2(TPO):c.587T>C (p.Leu196Ser) rs370357356 0.00002
NM_001206744.2(TPO):c.819A>G (p.Gln273=) rs771160950 0.00002
NM_001206744.2(TPO):c.95-4G>A rs757494249 0.00002
NM_001354712.2(THRB):c.*1173A>C rs886058288 0.00002
NM_001354712.2(THRB):c.*1567C>G rs1473952500 0.00002
NM_001354712.2(THRB):c.*1861A>G rs529916834 0.00002
NM_001354712.2(THRB):c.*2030T>C rs886058285 0.00002
NM_001354712.2(THRB):c.*4927G>A rs371837190 0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_001363711.2(DUOX2):c.3518C>T (p.Ser1173Phe) rs148718959 0.00002
NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys) rs747720952 0.00002
NM_001363711.2(DUOX2):c.4537G>A (p.Gly1513Arg) rs748262140 0.00002
NM_001363711.2(DUOX2):c.4619A>C (p.His1540Pro) rs750802774 0.00002
NM_001363711.2(DUOX2):c.841C>T (p.Leu281=) rs1481616548 0.00002
NM_003235.5(TG):c.1333C>T (p.Arg445Ter) rs748309986 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003235.5(TG):c.2737T>C (p.Ser913Pro) rs773538206 0.00002
NM_003235.5(TG):c.3197G>A (p.Arg1066His) rs116119508 0.00002
NM_003235.5(TG):c.379G>A (p.Ala127Thr) rs761251603 0.00002
NM_003235.5(TG):c.3996G>T (p.Gln1332His) rs748883405 0.00002
NM_003235.5(TG):c.4243A>C (p.Lys1415Gln) rs757789897 0.00002
NM_003235.5(TG):c.555G>A (p.Ala185=) rs374108215 0.00002
NM_003235.5(TG):c.6797A>G (p.Gln2266Arg) rs754805539 0.00002
NM_003235.5(TG):c.7162G>A (p.Gly2388Arg) rs777005576 0.00002
NM_003235.5(TG):c.7573-5T>C rs762000057 0.00002
NM_003235.5(TG):c.7615T>C (p.Phe2539Leu) rs769168191 0.00002
NM_003235.5(TG):c.7647C>T (p.Gly2549=) rs200261320 0.00002
NM_003235.5(TG):c.925A>G (p.Thr309Ala) rs199712883 0.00002
NM_003466.4(PAX8):c.*789G>A rs886054789 0.00002
NM_003466.4(PAX8):c.1185G>A (p.Val395=) rs886054792 0.00002
NM_003466.4(PAX8):c.1275G>A (p.Leu425=) rs368814338 0.00002
NM_003466.4(PAX8):c.1277-10A>G rs893315047 0.00002
NM_003466.4(PAX8):c.473C>T (p.Thr158Met) rs727504066 0.00002
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) rs199890664 0.00002
NM_003466.4(PAX8):c.754C>G (p.Pro252Ala) rs768835143 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) rs770148072 0.00002
NM_000453.3(SLC5A5):c.*1027A>G rs1044706320 0.00001
NM_000453.3(SLC5A5):c.*136C>G rs886054283 0.00001
NM_000453.3(SLC5A5):c.*228A>G rs1235485172 0.00001
NM_000453.3(SLC5A5):c.*339C>T rs886054291 0.00001
NM_000453.3(SLC5A5):c.*897C>T rs886054297 0.00001
NM_000453.3(SLC5A5):c.-53C>T rs886054281 0.00001
NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro) rs121909174 0.00001
NM_000453.3(SLC5A5):c.1192T>C (p.Cys398Arg) rs1421358195 0.00001
NM_000453.3(SLC5A5):c.1643G>A (p.Cys548Tyr) rs1389518713 0.00001
NM_000453.3(SLC5A5):c.1768-10T>A rs770323479 0.00001
NM_000453.3(SLC5A5):c.1789G>A (p.Gly597Arg) rs536886161 0.00001
NM_000453.3(SLC5A5):c.252C>T (p.Gly84=) rs370383956 0.00001
NM_000453.3(SLC5A5):c.357+11G>A rs751413692 0.00001
NM_000453.3(SLC5A5):c.649C>T (p.Arg217Cys) rs779661677 0.00001
NM_000453.3(SLC5A5):c.663G>A (p.Thr221=) rs375564091 0.00001
NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter) rs121909175 0.00001
NM_000453.3(SLC5A5):c.915G>A (p.Val305=) rs1484899161 0.00001
NM_000453.3(SLC5A5):c.958G>A (p.Ala320Thr) rs142127951 0.00001
NM_001206744.2(TPO):c.*37T>C rs766791306 0.00001
NM_001206744.2(TPO):c.-10G>C rs531273408 0.00001
NM_001206744.2(TPO):c.1059C>T (p.His353=) rs886054899 0.00001
NM_001206744.2(TPO):c.1119G>A (p.Ala373=) rs1167826982 0.00001
NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg) rs753012199 0.00001
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser) rs778515113 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.2007-12C>T rs546535782 0.00001
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp) rs121908087 0.00001
NM_001206744.2(TPO):c.2181G>T (p.Met727Ile) rs886054919 0.00001
NM_001206744.2(TPO):c.2436G>A (p.Ala812=) rs763673114 0.00001
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter) rs759809305 0.00001
NM_001206744.2(TPO):c.2691A>T (p.Gly897=) rs199796122 0.00001
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs) rs774713681 0.00001
NM_001206744.2(TPO):c.346A>G (p.Thr116Ala) rs1029043404 0.00001
NM_001206744.2(TPO):c.348G>A (p.Thr116=) rs374499898 0.00001
NM_001206744.2(TPO):c.391T>C (p.Ser131Pro) rs201800220 0.00001
NM_001206744.2(TPO):c.524G>A (p.Arg175Gln) rs571832933 0.00001
NM_001354712.2(THRB):c.*1443T>C rs985382537 0.00001
NM_001354712.2(THRB):c.*1582G>A rs1455770141 0.00001
NM_001354712.2(THRB):c.*1866T>C rs886058287 0.00001
NM_001354712.2(THRB):c.*1958G>A rs201231150 0.00001
NM_001354712.2(THRB):c.*2112T>C rs958617165 0.00001
NM_001354712.2(THRB):c.*2182T>C rs886058284 0.00001
NM_001354712.2(THRB):c.*2204C>G rs886058283 0.00001
NM_001354712.2(THRB):c.*2341C>T rs886058282 0.00001
NM_001354712.2(THRB):c.*2445A>G rs975462034 0.00001
NM_001354712.2(THRB):c.*2516A>G rs375476690 0.00001
NM_001354712.2(THRB):c.*2976G>A rs536523113 0.00001
NM_001354712.2(THRB):c.*3047A>G rs200103337 0.00001
NM_001354712.2(THRB):c.*3055G>A rs544177543 0.00001
NM_001354712.2(THRB):c.*3155G>A rs1035090874 0.00001
NM_001354712.2(THRB):c.*4189G>C rs575525867 0.00001
NM_001354712.2(THRB):c.*4434T>A rs1324834995 0.00001
NM_001354712.2(THRB):c.*4477del rs886058271 0.00001
NM_001354712.2(THRB):c.*4770G>A rs1037848055 0.00001
NM_001354712.2(THRB):c.*4824C>T rs534066448 0.00001
NM_001354712.2(THRB):c.*688T>C rs1434662315 0.00001
NM_001354712.2(THRB):c.-254G>A rs886058293 0.00001
NM_001354712.2(THRB):c.-261+65743G>A rs1054051271 0.00001
NM_001354712.2(THRB):c.-274G>T rs1698771648 0.00001
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223 0.00001
NM_001354712.2(THRB):c.1148G>A (p.Arg383His) rs121918708 0.00001
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln) rs1553609210 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
NM_001354712.2(THRB):c.1350C>T (p.Leu450=) rs1225965675 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp) rs121918707 0.00001
NM_001363711.2(DUOX2):c.*1230C>T rs886051189 0.00001
NM_001363711.2(DUOX2):c.*353G>A rs1011108142 0.00001
NM_001363711.2(DUOX2):c.*857G>A rs566946041 0.00001
NM_001363711.2(DUOX2):c.-14-6C>T rs1350626533 0.00001
NM_001363711.2(DUOX2):c.1027G>A (p.Gly343Ser) rs367829065 0.00001
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.144C>A (p.His48Gln) rs779289206 0.00001
NM_001363711.2(DUOX2):c.1528C>T (p.Arg510Trp) rs776321578 0.00001
NM_001363711.2(DUOX2):c.1552T>A (p.Trp518Arg) rs543781904 0.00001
NM_001363711.2(DUOX2):c.160G>T (p.Gly54Cys) rs1456836359 0.00001
NM_001363711.2(DUOX2):c.1774G>A (p.Glu592Lys) rs1894233118 0.00001
NM_001363711.2(DUOX2):c.2291G>A (p.Arg764Gln) rs201884203 0.00001
NM_001363711.2(DUOX2):c.2334+4C>A rs756624208 0.00001
NM_001363711.2(DUOX2):c.2335-1G>C rs758001307 0.00001
NM_001363711.2(DUOX2):c.2583T>A (p.Arg861=) rs144824844 0.00001
NM_001363711.2(DUOX2):c.2593A>C (p.Thr865Pro) rs886051194 0.00001
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00001
NM_001363711.2(DUOX2):c.2806C>T (p.Arg936Cys) rs759249545 0.00001
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) rs752176935 0.00001
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln) rs772992566 0.00001
NM_001363711.2(DUOX2):c.317T>C (p.Val106Ala) rs758687948 0.00001
NM_001363711.2(DUOX2):c.325+13G>C rs201514147 0.00001
NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln) rs558919433 0.00001
NM_001363711.2(DUOX2):c.3297C>T (p.Leu1099=) rs752327099 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) rs753527559 0.00001
NM_001363711.2(DUOX2):c.3689C>T (p.Ala1230Val) rs557220354 0.00001
NM_001363711.2(DUOX2):c.377C>T (p.Ala126Val) rs768688870 0.00001
NM_001363711.2(DUOX2):c.3807G>T (p.Lys1269Asn) rs754765692 0.00001
NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=) rs548949995 0.00001
NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr) rs550037603 0.00001
NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569 0.00001
NM_001363711.2(DUOX2):c.4232G>A (p.Cys1411Tyr) rs766067391 0.00001
NM_001363711.2(DUOX2):c.4383G>A (p.Arg1461=) rs886051190 0.00001
NM_001363711.2(DUOX2):c.4405G>A (p.Glu1469Lys) rs376623263 0.00001
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001363711.2(DUOX2):c.4634A>G (p.Tyr1545Cys) rs763639251 0.00001
NM_001363711.2(DUOX2):c.513+8G>C rs886051196 0.00001
NM_001363711.2(DUOX2):c.953C>A (p.Pro318His) rs555083063 0.00001
NM_003235.5(TG):c.1143del (p.Tyr382fs) rs778849740 0.00001
NM_003235.5(TG):c.1532A>G (p.Asn511Ser) rs192077055 0.00001
NM_003235.5(TG):c.160G>C (p.Glu54Gln) rs1303871583 0.00001
NM_003235.5(TG):c.1834C>A (p.Pro612Thr) rs552359043 0.00001
NM_003235.5(TG):c.1835C>G (p.Pro612Arg) rs772505924 0.00001
NM_003235.5(TG):c.2276A>G (p.Tyr759Cys) rs766295732 0.00001
NM_003235.5(TG):c.2323A>C (p.Asn775His) rs746224898 0.00001
NM_003235.5(TG):c.2488C>G (p.Gln830Glu) rs2076737 0.00001
NM_003235.5(TG):c.2709G>C (p.Glu903Asp) rs755672784 0.00001
NM_003235.5(TG):c.3176T>C (p.Ile1059Thr) rs1016185504 0.00001
NM_003235.5(TG):c.3397G>A (p.Glu1133Lys) rs375727924 0.00001
NM_003235.5(TG):c.3603G>A (p.Thr1201=) rs750765107 0.00001
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003235.5(TG):c.3953A>G (p.Gln1318Arg) rs765831974 0.00001
NM_003235.5(TG):c.3964T>C (p.Leu1322=) rs886062707 0.00001
NM_003235.5(TG):c.3982C>T (p.Arg1328Cys) rs535936483 0.00001
NM_003235.5(TG):c.4023G>T (p.Leu1341=) rs774972059 0.00001
NM_003235.5(TG):c.4159+13G>A rs779146886 0.00001
NM_003235.5(TG):c.454C>T (p.Arg152Cys) rs372138161 0.00001
NM_003235.5(TG):c.488G>A (p.Ser163Asn) rs767567015 0.00001
NM_003235.5(TG):c.48G>A (p.Trp16Ter) rs780846892 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 0.00001
NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter) rs1255388549 0.00001
NM_003235.5(TG):c.5965A>G (p.Ile1989Val) rs752307255 0.00001
NM_003235.5(TG):c.5976-15C>T rs367703716 0.00001
NM_003235.5(TG):c.6245C>T (p.Pro2082Leu) rs755677679 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.6530G>A (p.Arg2177His) rs761804509 0.00001
NM_003235.5(TG):c.6576C>T (p.Leu2192=) rs765088305 0.00001
NM_003235.5(TG):c.6622C>T (p.Arg2208Trp) rs750846435 0.00001
NM_003235.5(TG):c.6681G>T (p.Gln2227His) rs761974404 0.00001
NM_003235.5(TG):c.66C>T (p.Phe22=) rs143647619 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.6770C>T (p.Ala2257Val) rs1472210977 0.00001
NM_003235.5(TG):c.6988G>A (p.Val2330Met) rs752587385 0.00001
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser) rs898275076 0.00001
NM_003235.5(TG):c.7112G>A (p.Arg2371Gln) rs534667194 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00001
NM_003235.5(TG):c.7202C>T (p.Ala2401Val) rs149050873 0.00001
NM_003235.5(TG):c.7239+3A>G rs775521942 0.00001
NM_003235.5(TG):c.7594C>T (p.Arg2532Trp) rs565384161 0.00001
NM_003235.5(TG):c.7657G>A (p.Asp2553Asn) rs535231848 0.00001
NM_003466.4(PAX8):c.*1977T>C rs886054786 0.00001
NM_003466.4(PAX8):c.*2326A>G rs886054783 0.00001
NM_003466.4(PAX8):c.*2409C>T rs886054782 0.00001
NM_003466.4(PAX8):c.*368G>C rs886054791 0.00001
NM_003466.4(PAX8):c.*697C>T rs1259968544 0.00001
NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) rs776082182 0.00001
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg) rs369313070 0.00001
NM_003466.4(PAX8):c.297C>T (p.Asn99=) rs762019177 0.00001
NM_003466.4(PAX8):c.441C>T (p.Cys147=) rs540878126 0.00001
NM_003466.4(PAX8):c.501C>A (p.Pro167=) rs61730086 0.00001
NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) rs886054794 0.00001
NM_003466.4(PAX8):c.898+12G>A rs373810250 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) rs137852685 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) rs776310516 0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr) rs121918139 0.00001
GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1
GRCh37/hg19 11p15.2(chr11:14657389-14918308)x1
GRCh37/hg19 14q23.1(chr14:58737402-58884615)x1
GRCh37/hg19 14q23.1(chr14:58737402-58891576)x1
GRCh37/hg19 15q22.2(chr15:62128861-62340126)x1
GRCh37/hg19 15q22.2(chr15:62155282-62332980)x1
GRCh37/hg19 17q21.1(chr17:38146929-38153473)x1
GRCh37/hg19 2p21(chr2:45453858-45455897)x3
GRCh37/hg19 2p21(chr2:45454554-45457111)x3
L325F
NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
NC_000015.9:g.(?_45406523)_(45410620_?)del
NG_009159.1:g.(?_270821)_(382671_?)del
NG_012930.1:g.7540_13728delins431
NM_000453.3(SLC5A5):c.*1282C>A rs929190184
NM_000453.3(SLC5A5):c.*238C>A rs183947586
NM_000453.3(SLC5A5):c.*239C>G rs551427934
NM_000453.3(SLC5A5):c.*645C>G rs146285354
NM_000453.3(SLC5A5):c.*826C>A rs886054296
NM_000453.3(SLC5A5):c.-107C>A rs555308071
NM_000453.3(SLC5A5):c.-46G>A rs993887182
NM_000453.3(SLC5A5):c.1084A>T (p.Met362Leu) rs752274081
NM_000453.3(SLC5A5):c.1176C>T (p.Leu392=) rs2094322065
NM_000453.3(SLC5A5):c.1261G>A (p.Gly421Arg) rs2094326271
NM_000453.3(SLC5A5):c.1340C>G (p.Ala447Gly) rs577079350
NM_000453.3(SLC5A5):c.1506C>G (p.Asn502Lys) rs757216908
NM_000453.3(SLC5A5):c.152del (p.Gly51fs) rs2094296642
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
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.1651+7A>C rs2030014553
NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)
NM_000453.3(SLC5A5):c.17C>T (p.Thr6Ile) rs2094296184
NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg) rs121909178
NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala) rs1055928965
NM_000453.3(SLC5A5):c.357+5C>T rs886054282
NM_000453.3(SLC5A5):c.423+13G>A rs376277243
NM_000453.3(SLC5A5):c.672G>A (p.Gln224=) rs770491099
NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg) rs2094311069
NM_000453.3(SLC5A5):c.861C>T (p.Val287=) rs35209536
NM_001206744.2(TPO):c.*63dup rs749486726
NM_001206744.2(TPO):c.-2+19T>C rs886054871
NM_001206744.2(TPO):c.-69C>T rs1662565752
NM_001206744.2(TPO):c.-75A>G rs2071403
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
NM_001206744.2(TPO):c.1138G>A (p.Gly380Ser) rs766587495
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1277C>G (p.Ala426Gly) rs61758082
NM_001206744.2(TPO):c.12C>G (p.Leu4=) rs9678281
NM_001206744.2(TPO):c.12C>T (p.Leu4=) rs9678281
NM_001206744.2(TPO):c.1339-1147T>C
NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe) rs104893669
NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del) rs1670957669
NM_001206744.2(TPO):c.1496del (p.Pro499fs) rs1573380429
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) rs1057518950
NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys) rs1671335901
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser) rs121908084
NM_001206744.2(TPO):c.1857C>G (p.Ala619=) rs140322336
NM_001206744.2(TPO):c.1961C>T (p.Ala654Val) rs886054918
NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp)
NM_001206744.2(TPO):c.214C>T (p.Gln72Ter) rs200273438
NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro) rs1672384154
NM_001206744.2(TPO):c.2315A>G (p.Tyr772Cys) rs1382787497
NM_001206744.2(TPO):c.2421del (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg) rs2125001180
NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter)
NM_001206744.2(TPO):c.2512del (p.Cys838fs) rs1573459560
NM_001206744.2(TPO):c.2539G>A (p.Val847Met) rs1012881283
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
NM_001206744.2(TPO):c.2644C>G (p.Leu882Val) rs1572058655
NM_001206744.2(TPO):c.2652C>G (p.Ile884Met) rs763019320
NM_001206744.2(TPO):c.266G>A (p.Arg89Gln) rs200794960
NM_001206744.2(TPO):c.2704G>T (p.Val902Leu) rs368181428
NM_001206744.2(TPO):c.443C>T (p.Ala148Val) rs138509145
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
NM_001206744.2(TPO):c.712G>T (p.Asp238Tyr) rs753687508
NM_001206744.2(TPO):c.719A>G (p.Asp240Gly) rs1667768234
NM_001206744.2(TPO):c.764dup (p.Gly256fs) rs1558307375
NM_001206744.2(TPO):c.769G>T (p.Ala257Ser) rs4927611
NM_001206744.2(TPO):c.820-15C>T rs1227856624
NM_001206744.2(TPO):c.905G>A (p.Gly302Asp) rs546895183
NM_001206744.2(TPO):c.920A>C (p.Asn307Thr)
NM_001354712.2(THRB):c.*1102G>A rs886058290
NM_001354712.2(THRB):c.*1658T>C rs2031628717
NM_001354712.2(THRB):c.*1750del rs147125300
NM_001354712.2(THRB):c.*1776del rs536659624
NM_001354712.2(THRB):c.*1776dup rs536659624
NM_001354712.2(THRB):c.*1905A>G rs886058286
NM_001354712.2(THRB):c.*196G>A rs374351873
NM_001354712.2(THRB):c.*2031A>G rs2031549617
NM_001354712.2(THRB):c.*2183C>T rs554969796
NM_001354712.2(THRB):c.*2572ATTG[3] rs144580659
NM_001354712.2(THRB):c.*2632C>T rs2031435949
NM_001354712.2(THRB):c.*2637G>A rs184507648
NM_001354712.2(THRB):c.*2637G>T rs184507648
NM_001354712.2(THRB):c.*2661del rs139700964
NM_001354712.2(THRB):c.*2907G>A rs1320799694
NM_001354712.2(THRB):c.*3324dup rs35554555
NM_001354712.2(THRB):c.*3572C>T rs886058280
NM_001354712.2(THRB):c.*3879del rs886058279
NM_001354712.2(THRB):c.*3880_*3885del rs886058277
NM_001354712.2(THRB):c.*3880del rs886058278
NM_001354712.2(THRB):c.*3905_*3910del rs559325556
NM_001354712.2(THRB):c.*3906_*3910del rs559325556
NM_001354712.2(THRB):c.*3906_*3910dup rs559325556
NM_001354712.2(THRB):c.*3909_*3910dup rs559325556
NM_001354712.2(THRB):c.*3910del rs559325556
NM_001354712.2(THRB):c.*3910dup rs559325556
NM_001354712.2(THRB):c.*3911C>A rs886058274
NM_001354712.2(THRB):c.*3915del rs886058273
NM_001354712.2(THRB):c.*4033G>A rs151088155
NM_001354712.2(THRB):c.*4033G>C rs151088155
NM_001354712.2(THRB):c.*4541dup rs886058270
NM_001354712.2(THRB):c.*4544T>C rs1575210052
NM_001354712.2(THRB):c.*4595_*4596del rs886058269
NM_001354712.2(THRB):c.*4920A>G rs886058268
NM_001354712.2(THRB):c.*5431T>A rs886058266
NM_001354712.2(THRB):c.*5571G>C rs1030565111
NM_001354712.2(THRB):c.*570dup rs569875966
NM_001354712.2(THRB):c.*574G>C rs1266495433
NM_001354712.2(THRB):c.*602G>A rs826373
NM_001354712.2(THRB):c.*602G>C rs826373
NM_001354712.2(THRB):c.*900del rs373141874
NM_001354712.2(THRB):c.*983TCT[2] rs886058291
NM_001354712.2(THRB):c.-258C>A rs886058294
NM_001354712.2(THRB):c.-385GA[1] rs886058295
NM_001354712.2(THRB):c.-393T>C rs886058296
NM_001354712.2(THRB):c.-42-14dup rs3836253
NM_001354712.2(THRB):c.1009A>G (p.Thr337Ala) rs121918709
NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) rs387906515
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) rs121918697
NM_001354712.2(THRB):c.1020G>C (p.Gln340His) rs121918688
NM_001354712.2(THRB):c.1021C>G (p.Leu341Val) rs1553610984
NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu) rs1553610974
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) rs121918686
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) rs121918686
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys) rs121918686
NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp) rs28999970
NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) rs28999970
NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) rs28999971
NM_001354712.2(THRB):c.1045G>A (p.Val349Met)
NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr)
NM_001354712.2(THRB):c.1078C>T (p.Leu360=) rs373131377
NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg) rs1318079339
NM_001354712.2(THRB):c.1293A>G (p.Ile431Met) rs1553609195
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) rs121918705
NM_001354712.2(THRB):c.1305T>G (p.His435Gln) rs1553609185
NM_001354712.2(THRB):c.1305dup (p.Ala436fs)
NM_001354712.2(THRB):c.1312del (p.Arg438fs) rs1553609179
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1325T>C (p.Met442Thr)
NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer) rs1553609167
NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu) rs121918692
NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg) rs121918703
NM_001354712.2(THRB):c.1341dup (p.Thr448fs)
NM_001354712.2(THRB):c.1347dup (p.Leu450fs)
NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe) rs1553609152
NM_001354712.2(THRB):c.1349T>A (p.Leu450His) rs121918701
NM_001354712.2(THRB):c.1351T>G (p.Phe451Val) rs1057519028
NM_001354712.2(THRB):c.1354C>A (p.Pro452Thr) rs2148780678
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser) rs28933408
NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)
NM_001354712.2(THRB):c.1358C>A (p.Pro453His) rs121918687
NM_001354712.2(THRB):c.1358C>T (p.Pro453Leu)
NM_001354712.2(THRB):c.1358dup (p.Leu454fs) rs1553609119
NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys) rs121918702
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.182C>A (p.Thr61Asn) rs886058292
NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup) rs1553616532
NM_001354712.2(THRB):c.700G>A (p.Ala234Thr) rs121918694
NM_001354712.2(THRB):c.700G>C (p.Ala234Pro) rs121918694
NM_001354712.2(THRB):c.727C>G (p.Arg243Gly) rs121918707
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.737T>C (p.Leu246Pro) rs1553616482
NM_001354712.2(THRB):c.743A>G (p.Glu248Gly) rs2034169050
NM_001354712.2(THRB):c.803C>A (p.Ala268Asp)
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.824TCA[1] (p.Ile276del)
NM_001354712.2(THRB):c.920G>A (p.Gly307Asp) rs1553611101
NM_001354712.2(THRB):c.928A>G (p.Met310Val) rs1553611094
NM_001354712.2(THRB):c.929T>C (p.Met310Thr) rs121918699
NM_001354712.2(THRB):c.938T>C (p.Met313Thr) rs1553611083
NM_001354712.2(THRB):c.941C>T (p.Ser314Phe) rs1553611075
NM_001354712.2(THRB):c.947G>A (p.Arg316His) rs121918695
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) rs121918690
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.959G>T (p.Arg320Leu) rs121918693
NM_001354712.2(THRB):c.964G>C (p.Asp322His) rs121918700
NM_001354712.2(THRB):c.977A>G (p.Glu326Gly) rs1060499695
NM_001354712.2(THRB):c.980C>A (p.Thr327Asn) rs1553611038
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001363711.2(DUOX2):c.*1244T>A rs886051188
NM_001363711.2(DUOX2):c.*1352G>A rs903025021
NM_001363711.2(DUOX2):c.*344A>G rs1893821368
NM_001363711.2(DUOX2):c.*405T>G rs1893819220
NM_001363711.2(DUOX2):c.*585A>G rs1893814244
NM_001363711.2(DUOX2):c.*591C>T rs11070441
NM_001363711.2(DUOX2):c.*72T>G rs1893828559
NM_001363711.2(DUOX2):c.*765C>T rs1485869265
NM_001363711.2(DUOX2):c.*852T>A rs4775744
NM_001363711.2(DUOX2):c.-46A>G rs886051199
NM_001363711.2(DUOX2):c.-47G>A rs886051200
NM_001363711.2(DUOX2):c.1131G>A (p.Glu377=)
NM_001363711.2(DUOX2):c.1264C>T (p.Arg422Cys)
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
NM_001363711.2(DUOX2):c.1399G>T (p.Val467Leu)
NM_001363711.2(DUOX2):c.1435C>G (p.Leu479Val) rs1595526504
NM_001363711.2(DUOX2):c.1461G>C (p.Gly487=) rs269860
NM_001363711.2(DUOX2):c.1461G>T (p.Gly487=) rs269860
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
NM_001363711.2(DUOX2):c.160+5G>T rs372199473
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.1869G>A (p.Arg623=) rs1894220985
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.202G>T (p.Gly68Cys) rs886051198
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) rs119472027
NM_001363711.2(DUOX2):c.2110C>T (p.Arg704Cys)
NM_001363711.2(DUOX2):c.2257G>A (p.Glu753Lys) rs886051195
NM_001363711.2(DUOX2):c.2313C>G (p.Phe771Leu) rs1306818709
NM_001363711.2(DUOX2):c.2412C>T (p.Cys804=) rs376911583
NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)
NM_001363711.2(DUOX2):c.252C>G (p.Leu84=) rs1894468472
NM_001363711.2(DUOX2):c.2574T>C (p.Asp858=) rs1894149590
NM_001363711.2(DUOX2):c.2579C>A (p.Ser860Tyr)
NM_001363711.2(DUOX2):c.2634C>T (p.Asp878=) rs370762371
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2703C>A (p.Ala901=) rs149413147
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.2921+2T>C rs2141145828
NM_001363711.2(DUOX2):c.2944C>G (p.Pro982Ala) rs61730030
NM_001363711.2(DUOX2):c.299A>G (p.Asn100Ser) rs771688123
NM_001363711.2(DUOX2):c.3005+13C>T rs886051193
NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) rs765438725
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=)
NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs) rs2141144285
NM_001363711.2(DUOX2):c.3285_3286del (p.Ile1097fs)
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr) rs113632824
NM_001363711.2(DUOX2):c.341C>A (p.Ser114Tyr) rs886051197
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) rs1566978577
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del)
NM_001363711.2(DUOX2):c.3494C>T (p.Pro1165Leu) rs886051191
NM_001363711.2(DUOX2):c.3515+8C>G rs1893999927
NM_001363711.2(DUOX2):c.3516_3531del
NM_001363711.2(DUOX2):c.3521A>G (p.Lys1174Arg)
NM_001363711.2(DUOX2):c.3646dup (p.Arg1216fs)
NM_001363711.2(DUOX2):c.3667C>G (p.His1223Asp) rs374103492
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.3906G>C (p.Trp1302Cys) rs966315712
NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu) rs78020568
NM_001363711.2(DUOX2):c.3968C>T (p.Ala1323Val) rs78020568
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp)
NM_001363711.2(DUOX2):c.4060G>A (p.Gly1354Ser)
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) rs374891282
NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu)
NM_001363711.2(DUOX2):c.4240A>T (p.Ile1414Phe)
NM_001363711.2(DUOX2):c.425C>G (p.Pro142Arg) rs1894429162
NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=)
NM_001363711.2(DUOX2):c.4393C>T (p.Leu1465=) rs1893861413
NM_001363711.2(DUOX2):c.4396-15C>T rs1893856377
NM_001363711.2(DUOX2):c.4408C>A (p.Arg1470=) rs200785525
NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp) rs200785525
NM_001363711.2(DUOX2):c.4433G>A (p.Arg1478Gln) rs759342749
NM_001363711.2(DUOX2):c.4572G>T (p.Lys1524Asn) rs760374437
NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter)
NM_001363711.2(DUOX2):c.4597G>C (p.Val1533Leu) rs748789760
NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)
NM_001363711.2(DUOX2):c.514-2A>G
NM_001363711.2(DUOX2):c.596del (p.Ser199fs)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001363711.2(DUOX2):c.618del (p.Asp208fs) rs772809435
NM_001363711.2(DUOX2):c.70+15C>T rs138005153
NM_001363711.2(DUOX2):c.70+2C>G rs1316670460
NM_001363711.2(DUOX2):c.715G>A (p.Ala239Thr)
NM_001363711.2(DUOX2):c.790del (p.Leu264fs) rs1894386318
NM_001363711.2(DUOX2):c.871G>A (p.Ala291Thr)
NM_001363711.2(DUOX2):c.943+10C>A rs545715198
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) rs778178479
NM_003235.5(TG):c.1233G>A (p.Thr411=) rs886062702
NM_003235.5(TG):c.1273A>G (p.Met425Val)
NM_003235.5(TG):c.1274T>C (p.Met425Thr)
NM_003235.5(TG):c.1364G>A (p.Arg455His) rs61741644
NM_003235.5(TG):c.1451A>T (p.Asn484Ile)
NM_003235.5(TG):c.1681A>G (p.Asn561Asp) rs886062703
NM_003235.5(TG):c.1683C>T (p.Asn561=) rs1022148195
NM_003235.5(TG):c.2036G>A (p.Gly679Asp) rs184474552
NM_003235.5(TG):c.2079C>G (p.Phe693Leu) rs114115584
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.5(TG):c.2239T>A (p.Ser747Thr)
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
NM_003235.5(TG):c.2444G>A (p.Gly815Glu) rs1563913177
NM_003235.5(TG):c.2455C>T (p.Leu819Phe) rs886062704
NM_003235.5(TG):c.2639C>T (p.Pro880Leu) rs201893722
NM_003235.5(TG):c.266dup (p.Val90fs) rs1554649344
NM_003235.5(TG):c.2697G>C (p.Trp899Cys)
NM_003235.5(TG):c.275-3C>G rs1587166863
NM_003235.5(TG):c.275G>T (p.Cys92Phe) rs1313276149
NM_003235.5(TG):c.2761+11G>T rs77660463
NM_003235.5(TG):c.2761+2T>G rs886062705
NM_003235.5(TG):c.2936G>A (p.Arg979Gln)
NM_003235.5(TG):c.2963G>A (p.Arg988His) rs16893332
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) rs16893332
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
NM_003235.5(TG):c.3040G>C (p.Asp1014His) rs114772213
NM_003235.5(TG):c.3173T>A (p.Phe1058Tyr) rs1817399017
NM_003235.5(TG):c.3217+14G>T rs565373165
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) rs137854433
NM_003235.5(TG):c.3241C>G (p.Arg1081Gly) rs745902921
NM_003235.5(TG):c.3402G>C (p.Glu1134Asp)
NM_003235.5(TG):c.3639G>A (p.Pro1213=) rs372801449
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) rs121912647
NM_003235.5(TG):c.3748C>T (p.Arg1250Cys)
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) rs114944116
NM_003235.5(TG):c.3912G>A (p.Lys1304=) rs886062706
NM_003235.5(TG):c.3G>T (p.Met1Ile) rs2132013784
NM_003235.5(TG):c.4256C>A (p.Ala1419Glu) rs374574993
NM_003235.5(TG):c.4369C>G (p.Leu1457Val) rs989763340
NM_003235.5(TG):c.4379-13T>G rs886062708
NM_003235.5(TG):c.4589G>A (p.Arg1530Gln)
NM_003235.5(TG):c.478+15G>A rs141561325
NM_003235.5(TG):c.4856C>T (p.Ser1619Phe)
NM_003235.5(TG):c.5041+1G>T
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5234-30C>T rs2246624
NM_003235.5(TG):c.5554A>G (p.Thr1852Ala) rs1828596504
NM_003235.5(TG):c.5608C>G (p.Gln1870Glu)
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.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.6170C>A (p.Thr2057Asn) rs973259430
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
NM_003235.5(TG):c.6200-1G>C rs1587678058
NM_003235.5(TG):c.6274T>C (p.Ser2092Pro)
NM_003235.5(TG):c.638+1G>A rs1587178555
NM_003235.5(TG):c.6397+2T>A rs2130888037
NM_003235.5(TG):c.6444A>G (p.Gln2148=)
NM_003235.5(TG):c.6517C>T (p.Arg2173Ter)
NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn)
NM_003235.5(TG):c.6610del (p.Ser2204fs)
NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr)
NM_003235.5(TG):c.698G>A (p.Gly233Glu) rs886062701
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.7132C>T (p.Arg2378Trp) rs778035632
NM_003235.5(TG):c.7220T>C (p.Phe2407Ser)
NM_003235.5(TG):c.7222C>T (p.Arg2408Trp)
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.7405-9C>T rs778963384
NM_003235.5(TG):c.7414G>A (p.Val2472Met) rs61730222
NM_003235.5(TG):c.7414G>C (p.Val2472Leu) rs61730222
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)
NM_003235.5(TG):c.7573-5del rs759533889
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln)
NM_003235.5(TG):c.7632G>T (p.Gln2544His) rs1389900376
NM_003235.5(TG):c.7663C>T (p.Arg2555Cys) rs370013278
NM_003235.5(TG):c.7824C>A (p.Val2608=) rs886062710
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
NM_003235.5(TG):c.7847A>G (p.Asn2616Ser) rs10091530
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) rs10091530
NM_003235.5(TG):c.7921G>C (p.Glu2641Gln) rs748852916
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) rs1852105706
NM_003235.5(TG):c.8071C>T (p.Arg2691Cys)
NM_003235.5(TG):c.8189-14C>A rs374177941
NM_003235.5(TG):c.8189-14C>T rs374177941
NM_003235.5(TG):c.8203G>A (p.Gly2735Arg) rs777891366
NM_003235.5(TG):c.8205del (p.Gln2736fs) rs758002273
NM_003235.5(TG):c.946G>A (p.Val316Ile) rs1001892478
NM_003466.4(PAX8):c.*1060C>G rs1689067483
NM_003466.4(PAX8):c.*1186G>C rs937780091
NM_003466.4(PAX8):c.*1393A>G rs886054787
NM_003466.4(PAX8):c.*1490G>A rs773369036
NM_003466.4(PAX8):c.*1942C>T rs932801565
NM_003466.4(PAX8):c.*2231C>T rs888850438
NM_003466.4(PAX8):c.*2517C>T rs886054781
NM_003466.4(PAX8):c.*2527A>G rs886054780
NM_003466.4(PAX8):c.*290G>A rs144113497
NM_003466.4(PAX8):c.*343G>A rs182231841
NM_003466.4(PAX8):c.*472C>T rs149552415
NM_003466.4(PAX8):c.*527G>A rs1024776806
NM_003466.4(PAX8):c.*612G>A rs773276491
NM_003466.4(PAX8):c.*764C>T rs886054790
NM_003466.4(PAX8):c.*766C>T rs1689075892
NM_003466.4(PAX8):c.-75-4G>T rs1693988335
NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg)
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.160A>T (p.Ser54Cys) 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.191+6C>G rs1691352861
NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) rs1691155605
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)
NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) rs1691154033
NM_003466.4(PAX8):c.237dup (p.Lys80fs) rs2104498488
NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) rs1573469745
NM_003466.4(PAX8):c.322C>T (p.Arg108Ter) rs104893655
NM_003466.4(PAX8):c.457_458del (p.Leu153fs) rs1690965885
NM_003466.4(PAX8):c.479-29C>A rs13015478
NM_003466.4(PAX8):c.591A>C (p.Lys197Asn)
NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)
NM_003466.4(PAX8):c.704C>T (p.Pro235Leu) rs200737496
NM_003466.4(PAX8):c.777G>C (p.Gln259His) rs1395652316
NM_003466.4(PAX8):c.858G>T (p.Gly286=) rs886054793
NM_003466.4(PAX8):c.92G>A (p.Arg31His) rs104893657
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.335-204del rs1761374435
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_007344.4(TTF1):c.1987+1G>C
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_203395.3(IYD):c.835C>T (p.Arg279Cys)
NM_207581.4(DUOXA2):c.113_119del (p.Phe38fs)
NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)
NM_207581.4(DUOXA2):c.228G>T (p.Trp76Cys)
NM_207581.4(DUOXA2):c.298del (p.Arg100fs)
NM_207581.4(DUOXA2):c.341-4A>G rs2554459
NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter) rs1555415049
NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) rs781126484
NM_207581.4(DUOXA2):c.573G>A (p.Trp191Ter)
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) rs974496530

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