ClinVar Miner

List of variants reported as uncertain significance for Cushing syndrome

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 759
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HGVS dbSNP
NC_000002.11:g.178562111_178577218dup
NC_000017.11:g.(?_7669603)_(7676600_?)dup
NC_000017.11:g.(?_7673529)_(7688293_?)dup
NC_000017.11:g.(?_7674853)_(7676600_?)dup
NM_000244.3(MEN1):c.108_122dup (p.Leu41_Gly42insLeuSerLeuValLeu) rs1555166695
NM_000244.3(MEN1):c.1406_1411dup (p.Ala470_Glu471insAlaAla) rs1555163821
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) rs199706698
NM_000244.3(MEN1):c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) rs386134257
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.791_796dup (p.Gln265_Gln266insLeuGln) rs1555165485
NM_000546.5(TP53):c.*1160T>G rs886053499
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.*327C>T rs886053512
NM_000546.5(TP53):c.*346G>T rs886053511
NM_000546.5(TP53):c.*347T>C rs886053510
NM_000546.5(TP53):c.*382C>T rs886053509
NM_000546.5(TP53):c.*548G>T rs886053508
NM_000546.5(TP53):c.*565G>T rs886053507
NM_000546.5(TP53):c.*626C>T rs886053506
NM_000546.5(TP53):c.*735C>A rs886053505
NM_000546.5(TP53):c.*747C>T rs886053504
NM_000546.5(TP53):c.*754C>T rs199729221
NM_000546.5(TP53):c.*772delT rs200757381
NM_000546.5(TP53):c.*779delC rs886053503
NM_000546.5(TP53):c.*790G>A rs886053502
NM_000546.5(TP53):c.*806C>A rs886053501
NM_000546.5(TP53):c.*977G>C rs886053500
NM_000546.5(TP53):c.*99G>A rs886053513
NM_000546.5(TP53):c.-202_-29+?dup174
NM_000546.5(TP53):c.-73C>A rs886053514
NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_000546.5(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_000546.5(TP53):c.1009C>G (p.Arg337Gly) rs587782529
NM_000546.5(TP53):c.100C>A (p.Pro34Thr) rs786201968
NM_000546.5(TP53):c.100C>G (p.Pro34Ala) rs786201968
NM_000546.5(TP53):c.1015G>A (p.Glu339Lys) rs17882252
NM_000546.5(TP53):c.1015G>C (p.Glu339Gln) rs17882252
NM_000546.5(TP53):c.1025G>A (p.Arg342Gln) rs375338359
NM_000546.5(TP53):c.103T>A (p.Leu35Met) rs1060501211
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1042T>G (p.Leu348Val) rs1060501193
NM_000546.5(TP53):c.1052A>G (p.Lys351Arg) rs1555524396
NM_000546.5(TP53):c.105G>C (p.Leu35Phe) rs121912661
NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_000546.5(TP53):c.1064C>T (p.Ala355Val) rs1555524382
NM_000546.5(TP53):c.1066G>C (p.Gly356Arg) rs766786605
NM_000546.5(TP53):c.1069A>G (p.Lys357Glu)
NM_000546.5(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_000546.5(TP53):c.1079G>A (p.Gly360Glu) rs35993958
NM_000546.5(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000546.5(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_000546.5(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_000546.5(TP53):c.1084A>T (p.Ser362Cys) rs1287887419
NM_000546.5(TP53):c.1085G>A (p.Ser362Asn) rs768803947
NM_000546.5(TP53):c.1087A>G (p.Arg363Gly) rs745751553
NM_000546.5(TP53):c.1091C>T (p.Ala364Val)
NM_000546.5(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.5(TP53):c.1096T>C (p.Ser366Pro) rs17881470
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.1102C>T (p.His368Tyr) rs786204227
NM_000546.5(TP53):c.110C>T (p.Ser37Phe)
NM_000546.5(TP53):c.1118A>G (p.Lys373Arg)
NM_000546.5(TP53):c.1120G>C (p.Gly374Arg) rs587781858
NM_000546.5(TP53):c.1121delG (p.Gly374Valfs) rs878854063
NM_000546.5(TP53):c.1123C>T (p.Gln375Ter) rs1555524156
NM_000546.5(TP53):c.1129A>G (p.Thr377Ala)
NM_000546.5(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.5(TP53):c.1135C>T (p.Arg379Cys) rs749061599
NM_000546.5(TP53):c.1136G>A (p.Arg379His) rs863224682
NM_000546.5(TP53):c.1136G>T (p.Arg379Leu) rs863224682
NM_000546.5(TP53):c.1140delT (p.His380Glnfs) rs1555524108
NM_000546.5(TP53):c.1146A>G (p.Lys382=)
NM_000546.5(TP53):c.1150A>G (p.Met384Val) rs730882009
NM_000546.5(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_000546.5(TP53):c.1151T>G (p.Met384Arg) rs1060501196
NM_000546.5(TP53):c.1163A>C (p.Glu388Ala) rs587781736
NM_000546.5(TP53):c.1165G>A (p.Gly389Arg) rs587783064
NM_000546.5(TP53):c.1165G>T (p.Gly389Trp) rs587783064
NM_000546.5(TP53):c.116C>T (p.Ala39Val)
NM_000546.5(TP53):c.1177delG (p.Asp393Thrfs) rs1555524083
NM_000546.5(TP53):c.1182A>T (p.Ter394Cys) rs1555524074
NM_000546.5(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_000546.5(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.132G>A (p.Met44Ile) rs1060501190
NM_000546.5(TP53):c.139C>A (p.Pro47Thr) rs1800371
NM_000546.5(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_000546.5(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.5(TP53):c.146A>G (p.Asp49Gly) rs759728549
NM_000546.5(TP53):c.149T>A (p.Ile50Asn) rs370502517
NM_000546.5(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.5(TP53):c.14A>G (p.Gln5Arg) rs781595324
NM_000546.5(TP53):c.152A>G (p.Glu51Gly)
NM_000546.5(TP53):c.155A>G (p.Gln52Arg) rs774656101
NM_000546.5(TP53):c.171C>A (p.Asp57Glu) rs587782776
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.188C>G (p.Ala63Gly) rs372201428
NM_000546.5(TP53):c.188C>T (p.Ala63Val) rs372201428
NM_000546.5(TP53):c.194G>C (p.Arg65Thr) rs1060501210
NM_000546.5(TP53):c.200C>A (p.Pro67Gln) rs1555526709
NM_000546.5(TP53):c.205G>A (p.Ala69Thr)
NM_000546.5(TP53):c.206C>T (p.Ala69Val) rs756233241
NM_000546.5(TP53):c.211C>G (p.Pro71Ala)
NM_000546.5(TP53):c.211C>T (p.Pro71Ser)
NM_000546.5(TP53):c.212C>G (p.Pro71Arg) rs878854065
NM_000546.5(TP53):c.214C>G (p.Pro72Ala) rs587782769
NM_000546.5(TP53):c.214_215delCCinsTG (p.Pro72Cys) rs730882014
NM_000546.5(TP53):c.215C>A (p.Pro72His) rs1042522
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.217G>A (p.Val73Met) rs587782423
NM_000546.5(TP53):c.219G>A (p.Val73=)
NM_000546.5(TP53):c.229C>A (p.Pro77Thr) rs753085009
NM_000546.5(TP53):c.229C>T (p.Pro77Ser) rs753085009
NM_000546.5(TP53):c.233C>G (p.Ala78Gly) rs876658527
NM_000546.5(TP53):c.234A>G (p.Ala78=) rs375099397
NM_000546.5(TP53):c.234_263del30 (p.Ala79_Ala88del) rs754312472
NM_000546.5(TP53):c.238C>T (p.Pro80Ser) rs1060501204
NM_000546.5(TP53):c.242C>T (p.Thr81Ile)
NM_000546.5(TP53):c.245C>G (p.Pro82Arg) rs534447939
NM_000546.5(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_000546.5(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_000546.5(TP53):c.249G>A (p.Ala83=) rs55754907
NM_000546.5(TP53):c.250G>A (p.Ala84Thr) rs587781307
NM_000546.5(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.5(TP53):c.25A>C (p.Ser9Arg) rs1555527017
NM_000546.5(TP53):c.266C>T (p.Pro89Leu) rs730881994
NM_000546.5(TP53):c.269C>T (p.Ser90Phe) rs1555526625
NM_000546.5(TP53):c.26G>A (p.Ser9Asn) rs1555527015
NM_000546.5(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.5(TP53):c.286_288delTCT (p.Ser96del) rs878854068
NM_000546.5(TP53):c.289G>T (p.Val97Phe) rs730882023
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.293C>T (p.Pro98Leu) rs1245723119
NM_000546.5(TP53):c.296C>G (p.Ser99Cys)
NM_000546.5(TP53):c.296C>T (p.Ser99Phe)
NM_000546.5(TP53):c.303A>T (p.Lys101Asn) rs878854069
NM_000546.5(TP53):c.304A>T (p.Thr102Ser)
NM_000546.5(TP53):c.307T>C (p.Tyr103His) rs1555526589
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.319T>A (p.Tyr107Asn) rs368771578
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.5(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.5(TP53):c.320A>G (p.Tyr107Cys) rs587782447
NM_000546.5(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.5(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.5(TP53):c.322_324delGGT (p.Gly108del) rs587783063
NM_000546.5(TP53):c.324_326delTTT (p.Phe109del)
NM_000546.5(TP53):c.328C>A (p.Arg110Ser) rs587781371
NM_000546.5(TP53):c.328C>T (p.Arg110Cys) rs587781371
NM_000546.5(TP53):c.329G>A (p.Arg110His) rs11540654
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.337T>G (p.Phe113Val) rs587781642
NM_000546.5(TP53):c.341T>C (p.Leu114Ser) rs781724995
NM_000546.5(TP53):c.344A>G (p.His115Arg) rs730881996
NM_000546.5(TP53):c.353C>T (p.Thr118Ile) rs1064794141
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.35C>A (p.Pro12His)
NM_000546.5(TP53):c.35C>T (p.Pro12Leu) rs1482497533
NM_000546.5(TP53):c.364G>A (p.Val122Met) rs587781495
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.375+1_375+5dup rs1555526468
NM_000546.5(TP53):c.375+4A>G rs1060501192
NM_000546.5(TP53):c.375+5G>C
NM_000546.5(TP53):c.375+6T>C rs730881998
NM_000546.5(TP53):c.376-2dupA rs751253294
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.5(TP53):c.37C>T (p.Pro13Ser) rs1060501208
NM_000546.5(TP53):c.380C>G (p.Ser127Cys) rs730881999
NM_000546.5(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.5(TP53):c.382C>A (p.Pro128Thr) rs1555526327
NM_000546.5(TP53):c.386C>G (p.Ala129Gly) rs137852792
NM_000546.5(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.5(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.5(TP53):c.38C>T (p.Pro13Leu) rs878854070
NM_000546.5(TP53):c.393C>A (p.Asn131Lys) rs769270327
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.397A>G (p.Met133Val) rs1057280220
NM_000546.5(TP53):c.399G>A (p.Met133Ile) rs1064795139
NM_000546.5(TP53):c.400T>C (p.Phe134Leu)
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.407A>C (p.Gln136Pro)
NM_000546.5(TP53):c.408A>C (p.Gln136His) rs758781593
NM_000546.5(TP53):c.40C>G (p.Leu14Val)
NM_000546.5(TP53):c.413C>A (p.Ala138Asp) rs750600586
NM_000546.5(TP53):c.417G>T (p.Lys139Asn)
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.5(TP53):c.439G>A (p.Val147Ile) rs1555526226
NM_000546.5(TP53):c.442G>A (p.Asp148Asn)
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.460G>A (p.Gly154Ser) rs137852789
NM_000546.5(TP53):c.460G>C (p.Gly154Arg) rs137852789
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.463A>G (p.Thr155Ala) rs772683278
NM_000546.5(TP53):c.463_468del (p.Thr155_Arg156del) rs1555526166
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.469G>A (p.Val157Ile) rs121912654
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.5(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.5(TP53):c.480G>A (p.Met160Ile) rs772354334
NM_000546.5(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.5(TP53):c.497C>T (p.Ser166Leu) rs1555526101
NM_000546.5(TP53):c.4G>A (p.Glu2Lys) rs769884991
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.506T>G (p.Met169Arg)
NM_000546.5(TP53):c.508A>G (p.Thr170Ala) rs587780729
NM_000546.5(TP53):c.509C>T (p.Thr170Met) rs779000871
NM_000546.5(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_000546.5(TP53):c.515T>C (p.Val172Ala) rs1131691021
NM_000546.5(TP53):c.516T>G (p.Val172=) rs749309577
NM_000546.5(TP53):c.520A>G (p.Arg174Gly) rs864622115
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.529C>A (p.Pro177Thr) rs147002414
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.530C>T (p.Pro177Leu) rs751477326
NM_000546.5(TP53):c.534C>A (p.His178Gln)
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_000546.5(TP53):c.551A>G (p.Asp184Gly) rs1060501209
NM_000546.5(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_000546.5(TP53):c.556G>A (p.Asp186Asn) rs1060501206
NM_000546.5(TP53):c.558T>A (p.Asp186Glu) rs375275361
NM_000546.5(TP53):c.559+4A>G rs1357840734
NM_000546.5(TP53):c.559+5G>A rs1555525956
NM_000546.5(TP53):c.559+9C>G rs1224204682
NM_000546.5(TP53):c.560-9T>G rs794727781
NM_000546.5(TP53):c.565G>T (p.Ala189Ser) rs1555525921
NM_000546.5(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_000546.5(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.5(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_000546.5(TP53):c.572_574delCTC (p.Pro191del) rs1555525902
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.586C>G (p.Arg196Gly) rs397516435
NM_000546.5(TP53):c.587G>A (p.Arg196Gln) rs483352697
NM_000546.5(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.5(TP53):c.589G>T (p.Val197Leu) rs786204041
NM_000546.5(TP53):c.591G>A (p.Val197=)
NM_000546.5(TP53):c.596G>A (p.Gly199Glu)
NM_000546.5(TP53):c.604C>T (p.Arg202Cys) rs587780072
NM_000546.5(TP53):c.605G>A (p.Arg202His) rs587778719
NM_000546.5(TP53):c.607G>A (p.Val203Met) rs730882003
NM_000546.5(TP53):c.607G>C (p.Val203Leu) rs730882003
NM_000546.5(TP53):c.607G>T (p.Val203Leu) rs730882003
NM_000546.5(TP53):c.608_610delTGG (p.Val203del)
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.623A>G (p.Asp208Gly)
NM_000546.5(TP53):c.628A>T (p.Asn210Tyr) rs1060501200
NM_000546.5(TP53):c.631A>C (p.Thr211Pro) rs1060501198
NM_000546.5(TP53):c.631A>G (p.Thr211Ala) rs1060501198
NM_000546.5(TP53):c.634T>A (p.Phe212Ile) rs1064795766
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.646G>C (p.Val216Leu) rs730882025
NM_000546.5(TP53):c.649G>A (p.Val217Met) rs35163653
NM_000546.5(TP53):c.653T>G (p.Val218Gly) rs1555525743
NM_000546.5(TP53):c.661G>A (p.Glu221Lys) rs786201592
NM_000546.5(TP53):c.662A>C (p.Glu221Ala)
NM_000546.5(TP53):c.664C>T (p.Pro222Ser) rs1060501203
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.668C>T (p.Pro223Leu) rs138983188
NM_000546.5(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.5(TP53):c.673-4C>G rs1555525586
NM_000546.5(TP53):c.673-5C>G rs876658684
NM_000546.5(TP53):c.673-9delA rs762540407
NM_000546.5(TP53):c.677G>T (p.Gly226Val) rs970212462
NM_000546.5(TP53):c.685T>C (p.Cys229Arg) rs1064794312
NM_000546.5(TP53):c.686G>C (p.Cys229Ser)
NM_000546.5(TP53):c.692C>T (p.Thr231Ile) rs1555525564
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.703A>T (p.Asn235Tyr) rs786204145
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.710T>C (p.Met237Thr) rs765848205
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.720T>G (p.Ser240Arg) rs764342812
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.727A>G (p.Met243Val) rs786203117
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.736A>T (p.Met246Leu) rs483352695
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.5(TP53):c.740A>G (p.Asn247Ser) rs786201762
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.747G>C (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.5(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.5(TP53):c.753C>G (p.Ile251Met) rs878854074
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.5(TP53):c.773A>C (p.Glu258Ala) rs1060501201
NM_000546.5(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.5(TP53):c.776A>G (p.Asp259Gly) rs745425759
NM_000546.5(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_000546.5(TP53):c.779C>A (p.Ser260Tyr) rs876658916
NM_000546.5(TP53):c.782+3C>A rs1555525425
NM_000546.5(TP53):c.782+3C>T
NM_000546.5(TP53):c.782+6G>A rs1008479744
NM_000546.5(TP53):c.783-8C>G
NM_000546.5(TP53):c.783T>C (p.Ser261=) rs863224684
NM_000546.5(TP53):c.784G>A (p.Gly262Ser) rs200579969
NM_000546.5(TP53):c.784_786delGGT (p.Gly262del)
NM_000546.5(TP53):c.785G>T (p.Gly262Val) rs1131691025
NM_000546.5(TP53):c.787A>C (p.Asn263His) rs72661119
NM_000546.5(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.5(TP53):c.791T>C (p.Leu264Pro) rs1555525353
NM_000546.5(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.79C>A (p.Pro27Thr) rs922736614
NM_000546.5(TP53):c.79C>T (p.Pro27Ser) rs922736614
NM_000546.5(TP53):c.800G>A (p.Arg267Gln) rs587780075
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_000546.5(TP53):c.811_812delGAinsTT (p.Glu271Leu)
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>C (p.Val272Leu)
NM_000546.5(TP53):c.815T>C (p.Val272Ala)
NM_000546.5(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.830G>T (p.Cys277Phe) rs763098116
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.5(TP53):c.847C>G (p.Arg283Gly)
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.850A>T (p.Thr284Ser) rs1204379654
NM_000546.5(TP53):c.851C>T (p.Thr284Ile) rs863224685
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.868C>T (p.Arg290Cys) rs770374782
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.869G>C (p.Arg290Pro) rs55819519
NM_000546.5(TP53):c.870_871delCAinsAC (p.Lys291Gln) rs1060501205
NM_000546.5(TP53):c.875A>G (p.Lys292Arg) rs121912663
NM_000546.5(TP53):c.877G>T (p.Gly293Trp) rs587780076
NM_000546.5(TP53):c.884C>T (p.Pro295Leu) rs751713111
NM_000546.5(TP53):c.886C>T (p.His296Tyr) rs672601296
NM_000546.5(TP53):c.88_90delAAC (p.Asn30del) rs587782270
NM_000546.5(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.5(TP53):c.8A>G (p.Glu3Gly) rs786203938
NM_000546.5(TP53):c.904G>C (p.Gly302Arg) rs863224686
NM_000546.5(TP53):c.905G>A (p.Gly302Glu) rs1060501202
NM_000546.5(TP53):c.907A>G (p.Ser303Gly) rs587782391
NM_000546.5(TP53):c.908G>A (p.Ser303Asn) rs876658714
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.5(TP53):c.919+5G>C rs766127339
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.925C>T (p.Pro309Ser) rs1555525012
NM_000546.5(TP53):c.931A>C (p.Asn311His) rs1555525007
NM_000546.5(TP53):c.932A>C (p.Asn311Thr) rs56184981
NM_000546.5(TP53):c.932A>G (p.Asn311Ser) rs56184981
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.941C>T (p.Ser314Phe) rs751440465
NM_000546.5(TP53):c.946C>A (p.Pro316Thr) rs772773208
NM_000546.5(TP53):c.947C>T (p.Pro316Leu) rs1555524979
NM_000546.5(TP53):c.949C>A (p.Gln317Lys) rs764735889
NM_000546.5(TP53):c.950A>G (p.Gln317Arg)
NM_000546.5(TP53):c.951G>T (p.Gln317His) rs1060501199
NM_000546.5(TP53):c.96+5G>A
NM_000546.5(TP53):c.960_962delGAA (p.Lys321del)
NM_000546.5(TP53):c.964C>T (p.Pro322Ser) rs863224687
NM_000546.5(TP53):c.97-3C>T rs786203749
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.970G>C (p.Asp324His) rs1064794810
NM_000546.5(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_000546.5(TP53):c.993+13G>C rs369599972
NM_000546.5(TP53):c.993+284C>T rs554738122
NM_000546.5(TP53):c.993+7A>G rs1023206153
NM_000546.5(TP53):c.996C>G (p.Ile332Met) rs1555524470
NM_000546.5(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000546.5(TP53):c.998G>A (p.Arg333His) rs573154688
NM_001126113.2(TP53):c.1028T>A (p.Ile343Lys)
NM_001126113.2(TP53):c.470_475dup (p.Arg158_Ala159insValArg) rs1555526140
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001126115.1(TP53):c.85G>A (p.Ala29Thr) rs193920817
NM_001126116.1(TP53):c.-775_-774dup rs1555526467
NM_001126117.1(TP53):c.435_452dup (p.Arg151_Thr152insProGlyArgAspArgArg) rs786204061
NM_002472.2(MYH8):c.3874C>T (p.Arg1292Ter) rs150008607
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr)
NM_002734.4(PRKAR1A):c.*1014A>G rs886053311
NM_002734.4(PRKAR1A):c.*1062A>G rs752303671
NM_002734.4(PRKAR1A):c.*1118dupT rs886053312
NM_002734.4(PRKAR1A):c.*1168A>T rs886053313
NM_002734.4(PRKAR1A):c.*1487C>T rs886053314
NM_002734.4(PRKAR1A):c.*1839G>A rs886053316
NM_002734.4(PRKAR1A):c.*1842A>T rs886053317
NM_002734.4(PRKAR1A):c.*2067T>C rs886053318
NM_002734.4(PRKAR1A):c.*2072G>A rs886053319
NM_002734.4(PRKAR1A):c.*2196C>T rs886053320
NM_002734.4(PRKAR1A):c.*389T>G rs886053307
NM_002734.4(PRKAR1A):c.*526G>A rs886053308
NM_002734.4(PRKAR1A):c.*587delT rs398041821
NM_002734.4(PRKAR1A):c.*704T>G rs886053310
NM_002734.4(PRKAR1A):c.*724T>A rs746409603
NM_002734.4(PRKAR1A):c.-16C>A rs886053305
NM_002734.4(PRKAR1A):c.-53C>T rs886053304
NM_002734.4(PRKAR1A):c.-6-7C>T rs373646911
NM_002734.4(PRKAR1A):c.101C>G (p.Ser34Cys)
NM_002734.4(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819
NM_002734.4(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566
NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_002734.4(PRKAR1A):c.1042G>A (p.Val348Ile) rs772571340
NM_002734.4(PRKAR1A):c.1088C>T (p.Ser363Leu) rs1555815165
NM_002734.4(PRKAR1A):c.121G>A (p.Ala41Thr) rs1356757839
NM_002734.4(PRKAR1A):c.151A>G (p.Arg51Gly)
NM_002734.4(PRKAR1A):c.177+7A>G rs1555811756
NM_002734.4(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_002734.4(PRKAR1A):c.271G>A (p.Val91Ile) rs759197325
NM_002734.4(PRKAR1A):c.287G>A (p.Arg96Gln) rs1555813215
NM_002734.4(PRKAR1A):c.296C>T (p.Ala99Val)
NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002734.4(PRKAR1A):c.331G>A (p.Ala111Thr)
NM_002734.4(PRKAR1A):c.349-5T>C
NM_002734.4(PRKAR1A):c.441-5T>G rs771949207
NM_002734.4(PRKAR1A):c.464C>T (p.Ser155Leu)
NM_002734.4(PRKAR1A):c.470C>T (p.Ser157Phe) rs776071358
NM_002734.4(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434
NM_002734.4(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.502+2dup rs1555813585
NM_002734.4(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_002734.4(PRKAR1A):c.552C>G (p.Val184=) rs751501857
NM_002734.4(PRKAR1A):c.567A>C (p.Glu189Asp) rs767405408
NM_002734.4(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.4(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109
NM_002734.4(PRKAR1A):c.60C>G (p.Leu20=) rs372451862
NM_002734.4(PRKAR1A):c.64G>T (p.Val22Phe) rs878854561
NM_002734.4(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_002734.4(PRKAR1A):c.761C>G (p.Ser254Cys) rs1555814475
NM_002734.4(PRKAR1A):c.769+3G>A rs1555814484
NM_002734.4(PRKAR1A):c.778G>C (p.Asp260His) rs1255519868
NM_002734.4(PRKAR1A):c.782A>G (p.Lys261Arg)
NM_002734.4(PRKAR1A):c.838C>G (p.Gln280Glu)
NM_002734.4(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_002734.4(PRKAR1A):c.891+6G>A rs1222751049
NM_002734.4(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434
NM_002734.4(PRKAR1A):c.973+3A>T
NM_002734.4(PRKAR1A):c.973+4T>G rs1555815055
NM_002734.4(PRKAR1A):c.974-6C>A rs745570426
NM_003977.3(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.3(AIP):c.827C>T (p.Ala276Val) rs61741147
NM_004949.4(DSC2):c.1123C>T (p.Arg375Ter)
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_016953.3(PDE11A):c.171delT (p.Thr58Profs) rs529789124
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.3(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_130799.2(MEN1):c.-2C>T rs653534
NM_130799.2(MEN1):c.1003C>T (p.Arg335Trp) rs371364206
NM_130799.2(MEN1):c.1004G>A (p.Arg335Gln) rs764998893
NM_130799.2(MEN1):c.1009G>C (p.Ala337Pro) rs2071312
NM_130799.2(MEN1):c.100C>A (p.Leu34Met) rs771554497
NM_130799.2(MEN1):c.1012C>G (p.Leu338Val) rs759337318
NM_130799.2(MEN1):c.1024G>C (p.Ala342Pro) rs776561706
NM_130799.2(MEN1):c.1025C>T (p.Ala342Val) rs377715802
NM_130799.2(MEN1):c.1029C>G (p.Asp343Glu) rs878855185
NM_130799.2(MEN1):c.1031C>T (p.Thr344Met) rs1259681826
NM_130799.2(MEN1):c.1060T>C (p.Cys354Arg) rs371503251
NM_130799.2(MEN1):c.1061G>A (p.Cys354Tyr) rs904261642
NM_130799.2(MEN1):c.1063C>A (p.Arg355=) rs863224807
NM_130799.2(MEN1):c.1063C>T (p.Arg355Trp) rs863224807
NM_130799.2(MEN1):c.1075_1077delGAG (p.Glu359del) rs1060499971
NM_130799.2(MEN1):c.1092C>A (p.Phe364Leu) rs863224808
NM_130799.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809
NM_130799.2(MEN1):c.1099G>A (p.Val367Ile) rs758404089
NM_130799.2(MEN1):c.1123C>G (p.Leu375Val) rs1211957325
NM_130799.2(MEN1):c.1130A>G (p.Lys377Arg) rs766075737
NM_130799.2(MEN1):c.1139C>G (p.Ala380Gly)
NM_130799.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_130799.2(MEN1):c.1157G>A (p.Gly386Asp) rs761360623
NM_130799.2(MEN1):c.1158C>T (p.Gly386=) rs794728653
NM_130799.2(MEN1):c.1159G>A (p.Glu387Lys) rs773978650
NM_130799.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066
NM_130799.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_130799.2(MEN1):c.1169C>G (p.Pro390Arg) rs761102084
NM_130799.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084
NM_130799.2(MEN1):c.1177C>G (p.Gln393Glu) rs1060499984
NM_130799.2(MEN1):c.1181G>C (p.Ser394Thr) rs934222398
NM_130799.2(MEN1):c.1185+4A>G rs863224809
NM_130799.2(MEN1):c.1185+5A>G
NM_130799.2(MEN1):c.119_124delTGCTGG (p.Val40_Leu41del) rs386134248
NM_130799.2(MEN1):c.1202G>T (p.Gly401Val) rs878855186
NM_130799.2(MEN1):c.1207G>A (p.Ala403Thr) rs746135199
NM_130799.2(MEN1):c.1210C>T (p.Leu404Phe) rs1060499989
NM_130799.2(MEN1):c.1219C>G (p.Pro407Ala) rs1060499985
NM_130799.2(MEN1):c.1226G>A (p.Cys409Tyr) rs1060499988
NM_130799.2(MEN1):c.1231G>A (p.Ala411Thr) rs757179911
NM_130799.2(MEN1):c.1231G>T (p.Ala411Ser) rs757179911
NM_130799.2(MEN1):c.1244G>A (p.Arg415Gln) rs1446518998
NM_130799.2(MEN1):c.1244G>C (p.Arg415Pro) rs1446518998
NM_130799.2(MEN1):c.1267T>C (p.Trp423Arg) rs1555164270
NM_130799.2(MEN1):c.1279A>C (p.Ser427Arg) rs1555164245
NM_130799.2(MEN1):c.1294_1302del9 (p.Leu432_Val434del) rs1555164218
NM_130799.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_130799.2(MEN1):c.1333G>T (p.Gly445Cys) rs1555164153
NM_130799.2(MEN1):c.1337G>A (p.Arg446His) rs1555164143
NM_130799.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_130799.2(MEN1):c.1350+4_1350+6delAGG
NM_130799.2(MEN1):c.1350+5G>A
NM_130799.2(MEN1):c.1350+6G>A
NM_130799.2(MEN1):c.1351-8T>G rs751932519
NM_130799.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810
NM_130799.2(MEN1):c.1355G>A (p.Arg452Gln)
NM_130799.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_130799.2(MEN1):c.1364T>A (p.Val455Glu) rs878855189
NM_130799.2(MEN1):c.1367G>A (p.Arg456His) rs372468697
NM_130799.2(MEN1):c.1379G>C (p.Arg460Pro) rs200035619
NM_130799.2(MEN1):c.1389G>C (p.Glu463Asp) rs1555163863
NM_130799.2(MEN1):c.1391C>T (p.Ala464Val) rs778728934
NM_130799.2(MEN1):c.1393_1407delGCCGAGGCCGAGGAG (p.Ala465_Glu469del) rs1064792907
NM_130799.2(MEN1):c.1397A>T (p.Glu466Val) rs1352053477
NM_130799.2(MEN1):c.1398G>T (p.Glu466Asp) rs990566024
NM_130799.2(MEN1):c.1399G>A (p.Ala467Thr) rs779589005
NM_130799.2(MEN1):c.1406A>C (p.Glu469Ala)
NM_130799.2(MEN1):c.1407_1421delGCCGTGGGGCGAGGA (p.Pro470_Glu474del) rs1033303123
NM_130799.2(MEN1):c.1416C>T (p.Gly472=) rs764509990
NM_130799.2(MEN1):c.1429G>C (p.Glu477Gln) rs863224526
NM_130799.2(MEN1):c.1431A>T (p.Glu477Asp) rs863224811
NM_130799.2(MEN1):c.1436G>C (p.Arg479Pro) rs1555163716
NM_130799.2(MEN1):c.1453C>T (p.Arg485Trp) rs1254459338
NM_130799.2(MEN1):c.1459T>C (p.Ser487Pro) rs1057427859
NM_130799.2(MEN1):c.1465C>T (p.Pro489Ser) rs587778440
NM_130799.2(MEN1):c.146C>T (p.Ala49Val) rs1555166674
NM_130799.2(MEN1):c.1478C>T (p.Pro493Leu) rs766604600
NM_130799.2(MEN1):c.1481C>T (p.Pro494Leu) rs1060499993
NM_130799.2(MEN1):c.1506G>C (p.Lys502Asn) rs774296730
NM_130799.2(MEN1):c.1516A>C (p.Thr506Pro) rs1060499994
NM_130799.2(MEN1):c.1517C>T (p.Thr506Ile)
NM_130799.2(MEN1):c.1519G>T (p.Gly507Cys) rs1423874145
NM_130799.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403
NM_130799.2(MEN1):c.1526G>T (p.Gly509Val) rs769355346
NM_130799.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530
NM_130799.2(MEN1):c.1540C>A (p.Pro514Thr) rs150202288
NM_130799.2(MEN1):c.1540C>T (p.Pro514Ser)
NM_130799.2(MEN1):c.1541C>G (p.Pro514Arg) rs753022747
NM_130799.2(MEN1):c.1541C>T (p.Pro514Leu) rs753022747
NM_130799.2(MEN1):c.1543C>T (p.Pro515Ser)
NM_130799.2(MEN1):c.1546C>G (p.Arg516Gly)
NM_130799.2(MEN1):c.1561A>T (p.Thr521Ser)
NM_130799.2(MEN1):c.1562C>T (p.Thr521Ile)
NM_130799.2(MEN1):c.1564G>C (p.Val522Leu) rs1060499983
NM_130799.2(MEN1):c.1567G>A (p.Ala523Thr) rs760683615
NM_130799.2(MEN1):c.1567G>C (p.Ala523Pro) rs760683615
NM_130799.2(MEN1):c.1583G>A (p.Gly528Asp) rs1555163392
NM_130799.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843
NM_130799.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679
NM_130799.2(MEN1):c.1636_1638dupCCG (p.Pro546_Glu547insPro) rs774350463
NM_130799.2(MEN1):c.1637C>T (p.Pro546Leu) rs779413959
NM_130799.2(MEN1):c.1640A>G (p.Glu547Gly) rs914488914
NM_130799.2(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_130799.2(MEN1):c.175C>G (p.Pro59Ala) rs1352823623
NM_130799.2(MEN1):c.1761G>A (p.Met587Ile) rs1555163058
NM_130799.2(MEN1):c.1765_1767delAAG (p.Lys589del)
NM_130799.2(MEN1):c.1777T>C (p.Ser593Pro)
NM_130799.2(MEN1):c.177C>T (p.Pro59=) rs749001511
NM_130799.2(MEN1):c.1798_1799delCT (p.Leu600Valfs) rs1555163017
NM_130799.2(MEN1):c.1826G>T (p.Gly609Val) rs1186858249
NM_130799.2(MEN1):c.184A>C (p.Thr62Pro) rs1555166619
NM_130799.2(MEN1):c.189C>G (p.Phe63Leu) rs137880635
NM_130799.2(MEN1):c.193C>A (p.Pro65Thr) rs1235900915
NM_130799.2(MEN1):c.202G>A (p.Ala68Thr)
NM_130799.2(MEN1):c.203C>T (p.Ala68Val)
NM_130799.2(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_130799.2(MEN1):c.215C>A (p.Pro72His)
NM_130799.2(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_130799.2(MEN1):c.244G>C (p.Asp82His) rs1419086083
NM_130799.2(MEN1):c.246C>G (p.Asp82Glu) rs1238113583
NM_130799.2(MEN1):c.266_286del21 (p.Leu89_Ala95del) rs1064792906
NM_130799.2(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_130799.2(MEN1):c.269A>G (p.Tyr90Cys)
NM_130799.2(MEN1):c.281C>T (p.Thr94Ile)
NM_130799.2(MEN1):c.299C>T (p.Ala100Val) rs998337367
NM_130799.2(MEN1):c.322C>G (p.Arg108Gly)
NM_130799.2(MEN1):c.326A>G (p.Glu109Gly) rs1555166447
NM_130799.2(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_130799.2(MEN1):c.343C>G (p.Arg115Gly)
NM_130799.2(MEN1):c.344G>A (p.Arg115His) rs1114167507
NM_130799.2(MEN1):c.352G>A (p.Val118Met) rs1060499975
NM_130799.2(MEN1):c.361G>A (p.Val121Ile) rs863224812
NM_130799.2(MEN1):c.361G>T (p.Val121Phe)
NM_130799.2(MEN1):c.38T>G (p.Leu13Arg)
NM_130799.2(MEN1):c.398A>G (p.Tyr133Cys) rs1555166357
NM_130799.2(MEN1):c.403A>C (p.Lys135Gln) rs121913034
NM_130799.2(MEN1):c.409C>T (p.Arg137Trp)
NM_130799.2(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_130799.2(MEN1):c.446-3C>A rs377461506
NM_130799.2(MEN1):c.458A>T (p.Asp153Val)
NM_130799.2(MEN1):c.466G>A (p.Gly156Ser)
NM_130799.2(MEN1):c.467G>A (p.Gly156Asp) rs794728648
NM_130799.2(MEN1):c.469G>A (p.Val157Met) rs1555165872
NM_130799.2(MEN1):c.473C>A (p.Ala158Asp) rs794728617
NM_130799.2(MEN1):c.473C>T (p.Ala158Val)
NM_130799.2(MEN1):c.485T>C (p.Val162Ala) rs748648909
NM_130799.2(MEN1):c.491C>T (p.Ala164Val)
NM_130799.2(MEN1):c.494G>A (p.Cys165Tyr) rs1057521111
NM_130799.2(MEN1):c.49G>A (p.Asp17Asn) rs1399824473
NM_130799.2(MEN1):c.502C>G (p.Leu168Val) rs1555165846
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_130799.2(MEN1):c.526G>T (p.Ala176Ser) rs376872829
NM_130799.2(MEN1):c.537_538delGGinsTT (p.Glu179_Asp180delinsAspTyr) rs1555165809
NM_130799.2(MEN1):c.554T>C (p.Val185Ala) rs764847812
NM_130799.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844
NM_130799.2(MEN1):c.568G>A (p.Gly190Arg) rs1555165742
NM_130799.2(MEN1):c.569G>A (p.Gly190Glu) rs878855195
NM_130799.2(MEN1):c.597C>A (p.His199Gln) rs150512958
NM_130799.2(MEN1):c.617G>A (p.Arg206His)
NM_130799.2(MEN1):c.618C>T (p.Arg206=) rs1555165717
NM_130799.2(MEN1):c.61C>G (p.Arg21Gly) rs541476418
NM_130799.2(MEN1):c.627G>C (p.Gln209His)
NM_130799.2(MEN1):c.629C>G (p.Thr210Arg) rs756287855
NM_130799.2(MEN1):c.632T>G (p.Val211Gly)
NM_130799.2(MEN1):c.634A>G (p.Asn212Asp) rs1060499980
NM_130799.2(MEN1):c.635A>G (p.Asn212Ser) rs1438685841
NM_130799.2(MEN1):c.640G>A (p.Gly214Ser) rs781493730
NM_130799.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_130799.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_130799.2(MEN1):c.655-5C>G rs752563214
NM_130799.2(MEN1):c.655-6C>G rs77461664
NM_130799.2(MEN1):c.655-6_655-4delCCT rs1555165623
NM_130799.2(MEN1):c.655-7C>A rs771297371
NM_130799.2(MEN1):c.660G>T (p.Trp220Cys)
NM_130799.2(MEN1):c.665A>C (p.Tyr222Ser) rs1555165601
NM_130799.2(MEN1):c.682A>G (p.Met228Val) rs1060499982
NM_130799.2(MEN1):c.686G>A (p.Arg229His) rs878855197
NM_130799.2(MEN1):c.694C>T (p.Arg232Cys) rs1225847249
NM_130799.2(MEN1):c.702G>A (p.Met234Ile) rs1448041546
NM_130799.2(MEN1):c.710C>T (p.Ala237Val) rs760289964
NM_130799.2(MEN1):c.71C>T (p.Ala24Val) rs1328062930
NM_130799.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_130799.2(MEN1):c.736T>G (p.Ser246Ala) rs1175283759
NM_130799.2(MEN1):c.739A>G (p.Ile247Val) rs1555165508
NM_130799.2(MEN1):c.74C>T (p.Ala25Val)
NM_130799.2(MEN1):c.754G>C (p.Asp252His)
NM_130799.2(MEN1):c.754G>T (p.Asp252Tyr) rs770368608
NM_130799.2(MEN1):c.758C>G (p.Ser253Trp) rs386134259
NM_130799.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_130799.2(MEN1):c.763G>C (p.Glu255Gln) rs104894268
NM_130799.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_130799.2(MEN1):c.772C>G (p.Gln258Glu)
NM_130799.2(MEN1):c.774G>C (p.Gln258His) rs374659656
NM_130799.2(MEN1):c.784-10C>A rs71526470
NM_130799.2(MEN1):c.784-15_784-14delTC rs764290037
NM_130799.2(MEN1):c.785A>G (p.Lys262Arg) rs1555165373
NM_130799.2(MEN1):c.801C>G (p.Leu267=)
NM_130799.2(MEN1):c.803A>G (p.Tyr268Cys) rs773500082
NM_130799.2(MEN1):c.805G>A (p.Asp269Asn) rs878855199
NM_130799.2(MEN1):c.811G>A (p.Gly271Arg)
NM_130799.2(MEN1):c.825-10C>G rs999121619
NM_130799.2(MEN1):c.827A>G (p.Tyr276Cys) rs1555165327
NM_130799.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_130799.2(MEN1):c.830C>T (p.Pro277Leu) rs1060499973
NM_130799.2(MEN1):c.869A>C (p.Glu290Ala) rs1213891703
NM_130799.2(MEN1):c.880G>A (p.Gly294Ser)
NM_130799.2(MEN1):c.883C>T (p.Arg295Trp) rs1046929915
NM_130799.2(MEN1):c.884G>A (p.Arg295Gln) rs1397110438
NM_130799.2(MEN1):c.892C>G (p.Pro298Ala) rs1555165268
NM_130799.2(MEN1):c.913G>A (p.Gly305Ser) rs1555165146
NM_130799.2(MEN1):c.92A>G (p.Glu31Gly) rs1060499977
NM_130799.2(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_130799.2(MEN1):c.932C>T (p.Thr311Ile)
NM_130799.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621
NM_130799.2(MEN1):c.94C>T (p.Pro32Ser) rs773089218
NM_130799.2(MEN1):c.952A>G (p.Ile318Val)
NM_130799.2(MEN1):c.955T>G (p.Tyr319Asp) rs1555165101
NM_130799.2(MEN1):c.964A>G (p.Met322Val) rs1555165089
NM_130799.2(MEN1):c.964A>T (p.Met322Leu) rs1555165089
NM_130799.2(MEN1):c.966G>A (p.Met322Ile)
NM_130799.2(MEN1):c.974C>A (p.Ala325Asp) rs370840265
NM_130799.2(MEN1):c.980A>G (p.Tyr327Cys)
NM_130799.2(MEN1):c.982C>A (p.His328Asn)
NM_130799.2(MEN1):c.982C>G (p.His328Asp) rs794727882
NM_130799.2(MEN1):c.988C>T (p.Arg330Cys)
NM_130799.2(MEN1):c.989G>A (p.Arg330His) rs373135175
NM_130799.2(MEN1):c.989G>C (p.Arg330Pro) rs373135175
NM_130799.2(MEN1):c.989G>T (p.Arg330Leu) rs373135175

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