NM_003235.5(TG):c.5299_5301del (p.Asp1767del)
|
rs112749206
|
0.01445
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
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_207581.4(DUOXA2):c.205+2T>C
|
rs201506037
|
0.00029
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)
|
rs191759494
|
0.00024
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)
|
rs376983373
|
0.00019
|
NM_003235.5(TG):c.4378G>A (p.Val1460Ile)
|
rs199615848
|
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_001206744.2(TPO):c.2647C>T (p.Pro883Ser)
|
rs190968346
|
0.00016
|
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)
|
rs119472029
|
0.00014
|
NM_001363711.2(DUOX2):c.3006-2A>G
|
rs371960046
|
0.00012
|
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.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
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_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)
|
rs119472028
|
0.00006
|
NM_001363711.2(DUOX2):c.3693+1G>T
|
rs200717240
|
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_000369.5(TSHR):c.1556G>A (p.Arg519His)
|
rs780018604
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)
|
rs199589510
|
0.00004
|
NM_003235.5(TG):c.6791G>A (p.Cys2264Tyr)
|
rs1229345000
|
0.00004
|
NM_203395.3(IYD):c.301C>T (p.Arg101Trp)
|
rs121918138
|
0.00004
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)
|
rs121909176
|
0.00003
|
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)
|
rs140124953
|
0.00003
|
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)
|
rs556552435
|
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_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
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.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)
|
rs121918670
|
0.00002
|
NM_024077.5(SECISBP2):c.182+1G>A
|
rs1477854736
|
0.00002
|
NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter)
|
rs774517670
|
0.00002
|
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)
|
rs121908871
|
0.00001
|
NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)
|
rs767239688
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
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.1342-2A>C
|
rs1413121429
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter)
|
rs778901860
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2090-1G>A
|
rs1455597424
|
0.00001
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)
|
rs1554352718
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
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.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg)
|
rs753012199
|
0.00001
|
NM_001206744.2(TPO):c.391T>C (p.Ser131Pro)
|
rs201800220
|
0.00001
|
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala)
|
rs769796932
|
0.00001
|
NM_001363711.2(DUOX2):c.2335-1G>C
|
rs758001307
|
0.00001
|
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys)
|
rs774556391
|
0.00001
|
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp)
|
rs752176935
|
0.00001
|
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter)
|
rs753527559
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
|
|
|
NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn)
|
|
|
NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)
|
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
NM_000369.5(TSHR):c.1777del (p.Ala593fs)
|
rs2140112570
|
|
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)
|
rs761918916
|
|
NM_000369.5(TSHR):c.418del (p.Met140fs)
|
rs1085307573
|
|
NM_000369.5(TSHR):c.545+2_545+3del
|
rs786204790
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)
|
|
|
NM_000441.2(SLC26A4):c.103_104delinsGCTGCT (p.Gln35fs)
|
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1154dup (p.Ile386fs)
|
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg)
|
rs1057517042
|
|
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)
|
rs777008062
|
|
NM_000441.2(SLC26A4):c.1191del (p.Phe398fs)
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)
|
rs886043058
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
|
|
|
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs)
|
rs1057516354
|
|
NM_000441.2(SLC26A4):c.1252G>T (p.Gly418Ter)
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.1280C>A (p.Ser427Tyr)
|
rs765939287
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1342-1G>T
|
rs1057517298
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1375A>T (p.Lys459Ter)
|
|
|
NM_000441.2(SLC26A4):c.1411_1414del (p.Leu471fs)
|
|
|
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)
|
rs1554359693
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1438-2A>G
|
rs1057516717
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000441.2(SLC26A4):c.1490del (p.Gly497fs)
|
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1539_1544+6del
|
rs1057516535
|
|
NM_000441.2(SLC26A4):c.1544+1G>A
|
rs876657722
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.1614+1G>C
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>A
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.165-2A>G
|
rs786204458
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)
|
rs111033200
|
|
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs)
|
rs1554360841
|
|
NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)
|
|
|
NM_000441.2(SLC26A4):c.1790T>A (p.Leu597Ter)
|
|
|
NM_000441.2(SLC26A4):c.1802del (p.Lys601fs)
|
|
|
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter)
|
rs786204502
|
|
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs)
|
rs1584337134
|
|
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp)
|
rs1057517161
|
|
NM_000441.2(SLC26A4):c.1966del (p.His656fs)
|
rs1057516636
|
|
NM_000441.2(SLC26A4):c.196A>T (p.Lys66Ter)
|
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2034+1G>A
|
rs759683649
|
|
NM_000441.2(SLC26A4):c.2062_2071del (p.Val688fs)
|
|
|
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs)
|
rs1057516796
|
|
NM_000441.2(SLC26A4):c.2089+2T>A
|
rs1554361624
|
|
NM_000441.2(SLC26A4):c.2109_2110del (p.Glu704fs)
|
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)
|
rs1298217152
|
|
NM_000441.2(SLC26A4):c.2184_2187del (p.Leu729fs)
|
|
|
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)
|
rs727503431
|
|
NM_000441.2(SLC26A4):c.2235+2T>C
|
rs1554362815
|
|
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)
|
rs1345175795
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.255del (p.Ser86fs)
|
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)
|
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)
|
rs1554354787
|
|
NM_000441.2(SLC26A4):c.454del (p.Val152fs)
|
rs1554354801
|
|
NM_000441.2(SLC26A4):c.460_461del (p.Ser154fs)
|
|
|
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
|
|
|
NM_000441.2(SLC26A4):c.555_556del (p.Arg185fs)
|
|
|
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)
|
rs1057516678
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000441.2(SLC26A4):c.765+3A>T
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.765_765+3del
|
rs756076960
|
|
NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)
|
|
|
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer)
|
rs1057517246
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
|
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.919-19_932del
|
rs1554357206
|
|
NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]
|
|
|
NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg)
|
rs2094311069
|
|
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
|
|
|
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)
|
rs1057518950
|
|
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
|
|
|
NM_001206744.2(TPO):c.1768+1_1768+9dup
|
rs1385139268
|
|
NM_001206744.2(TPO):c.2315A>G (p.Tyr772Cys)
|
rs1382787497
|
|
NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg)
|
rs2125001180
|
|
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
|
|
|
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
|
|
|
NM_001206744.2(TPO):c.719A>G (p.Asp240Gly)
|
rs1667768234
|
|
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
|
|
|
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
|
|
|
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.2654G>A (p.Arg885Gln)
|
rs181461079
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter)
|
rs765438725
|
|
NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs)
|
rs2141144285
|
|
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs)
|
rs748194265
|
|
NM_001363711.2(DUOX2):c.3416-1G>A
|
rs2141143881
|
|
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs)
|
rs1566978577
|
|
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn)
|
rs374891282
|
|
NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter)
|
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001363711.2(DUOX2):c.618del (p.Asp208fs)
|
rs772809435
|
|
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly)
|
rs778178479
|
|
NM_001555.5(IGSF1):c.1614G>A (p.Trp538Ter)
|
|
|
NM_001555.5(IGSF1):c.2042-1_2042del
|
|
|
NM_001555.5(IGSF1):c.2407dup (p.His803fs)
|
rs1603404297
|
|
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)
|
rs137853071
|
|
NM_003235.5(TG):c.2134dup (p.Ala712fs)
|
rs1815591671
|
|
NM_003235.5(TG):c.2234dup (p.Leu746fs)
|
rs1815680018
|
|
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
|
|
|
NM_003235.5(TG):c.3452del (p.Val1151fs)
|
rs766130576
|
|
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln)
|
rs121912650
|
|
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
|
|
|
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.160A>T (p.Ser54Cys)
|
rs104893660
|
|
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_004387.4(NKX2-5):c.335-204del
|
rs1761374435
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)
|
rs2154596304
|
|
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)
|
rs1601844140
|
|
NM_199334.5(THRA):c.518A>G (p.Glu173Gly)
|
rs1987264133
|
|
NM_199334.5(THRA):c.788C>T (p.Ala263Val)
|
rs1555545033
|
|
NM_199334.5(THRA):c.818C>A (p.Thr273Asn)
|
rs2145085082
|
|
NM_199334.5(THRA):c.896T>C (p.Ile299Thr)
|
|
|
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)
|
rs863223276
|
|
NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)
|
|
|
NM_207581.4(DUOXA2):c.228G>T (p.Trp76Cys)
|
|
|
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)
|
rs4774518
|
|
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)
|
rs974496530
|
|