ClinVar Miner

List of variants reported as uncertain significance for Cushing syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 955
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HGVS dbSNP
NC_000017.10:g.(?_7572917)_(7579922_?)dup
NC_000017.10:g.(?_7572921)_(7579918_?)dup
NC_000017.10:g.(?_7576843)_(7591611_?)dup
NC_000017.10:g.(?_7576847)_(7591611_?)dup
NC_000017.10:g.(?_7578171)_(7579918_?)dup
NC_000017.10:g.(?_7589449)_(7590046_?)dup
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.-2C>T rs653534
NM_000244.3(MEN1):c.1003C>T (p.Arg335Cys) rs1565644005
NM_000244.3(MEN1):c.1004G>A (p.Arg335His) rs373135175
NM_000244.3(MEN1):c.1004G>C (p.Arg335Pro) rs373135175
NM_000244.3(MEN1):c.1004G>T (p.Arg335Leu) rs373135175
NM_000244.3(MEN1):c.100C>A (p.Leu34Met) rs771554497
NM_000244.3(MEN1):c.1018C>T (p.Arg340Trp) rs371364206
NM_000244.3(MEN1):c.1019G>A (p.Arg340Gln) rs764998893
NM_000244.3(MEN1):c.1024G>C (p.Ala342Pro) rs2071312
NM_000244.3(MEN1):c.1027C>G (p.Leu343Val) rs759337318
NM_000244.3(MEN1):c.1039G>C (p.Ala347Pro) rs776561706
NM_000244.3(MEN1):c.1040C>T (p.Ala347Val) rs377715802
NM_000244.3(MEN1):c.1044C>G (p.Asp348Glu) rs878855185
NM_000244.3(MEN1):c.1046C>T (p.Thr349Met) rs1259681826
NM_000244.3(MEN1):c.1055T>A (p.Val352Asp)
NM_000244.3(MEN1):c.1073A>C (p.Tyr358Ser)
NM_000244.3(MEN1):c.1075T>C (p.Cys359Arg) rs371503251
NM_000244.3(MEN1):c.1076G>A (p.Cys359Tyr) rs904261642
NM_000244.3(MEN1):c.1078C>A (p.Arg360=) rs863224807
NM_000244.3(MEN1):c.1078C>T (p.Arg360Trp) rs863224807
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1084G>A (p.Asp362Asn)
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.108_122dup (p.Leu37_Leu41dup) rs1555166695
NM_000244.3(MEN1):c.1107C>A (p.Phe369Leu) rs863224808
NM_000244.3(MEN1):c.1108T>C (p.Phe370Leu)
NM_000244.3(MEN1):c.1113A>T (p.Glu371Asp) rs149383809
NM_000244.3(MEN1):c.1138C>G (p.Leu380Val) rs1211957325
NM_000244.3(MEN1):c.1145A>G (p.Lys382Arg) rs766075737
NM_000244.3(MEN1):c.1154C>G (p.Ala385Gly) rs1565642307
NM_000244.3(MEN1):c.1169C>T (p.Ala390Val) rs1298484645
NM_000244.3(MEN1):c.1172G>A (p.Gly391Asp) rs761360623
NM_000244.3(MEN1):c.1173C>T (p.Gly391=) rs794728653
NM_000244.3(MEN1):c.1174G>A (p.Glu392Lys) rs773978650
NM_000244.3(MEN1):c.1180C>T (p.Arg394Trp) rs566593066
NM_000244.3(MEN1):c.1181G>A (p.Arg394Gln) rs775267651
NM_000244.3(MEN1):c.1181G>C (p.Arg394Pro)
NM_000244.3(MEN1):c.1184C>G (p.Pro395Arg) rs761102084
NM_000244.3(MEN1):c.1184C>T (p.Pro395Leu) rs761102084
NM_000244.3(MEN1):c.1192C>G (p.Gln398Glu) rs1060499984
NM_000244.3(MEN1):c.1196G>C (p.Ser399Thr) rs934222398
NM_000244.3(MEN1):c.119_124del (p.Val40_Leu41del) rs386134248
NM_000244.3(MEN1):c.11A>C (p.Lys4Thr)
NM_000244.3(MEN1):c.1200+4A>G rs863224809
NM_000244.3(MEN1):c.1200+5A>G rs748700116
NM_000244.3(MEN1):c.1209G>C (p.Gln403His)
NM_000244.3(MEN1):c.1217G>T (p.Gly406Val) rs878855186
NM_000244.3(MEN1):c.1222G>A (p.Ala408Thr) rs746135199
NM_000244.3(MEN1):c.1225C>T (p.Leu409Phe) rs1060499989
NM_000244.3(MEN1):c.1234C>G (p.Pro412Ala) rs1060499985
NM_000244.3(MEN1):c.1241G>A (p.Cys414Tyr) rs1060499988
NM_000244.3(MEN1):c.1246G>A (p.Ala416Thr) rs757179911
NM_000244.3(MEN1):c.1246G>T (p.Ala416Ser) rs757179911
NM_000244.3(MEN1):c.1259G>A (p.Arg420Gln) rs1446518998
NM_000244.3(MEN1):c.1259G>C (p.Arg420Pro) rs1446518998
NM_000244.3(MEN1):c.125G>C (p.Gly42Ala)
NM_000244.3(MEN1):c.1269C>G (p.Asp423Glu)
NM_000244.3(MEN1):c.1282T>C (p.Trp428Arg) rs1555164270
NM_000244.3(MEN1):c.1294A>C (p.Ser432Arg) rs1555164245
NM_000244.3(MEN1):c.129C>G (p.Phe43Leu)
NM_000244.3(MEN1):c.1309_1317del (p.Leu437_Val439del) rs1555164218
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1348G>T (p.Gly450Cys) rs1555164153
NM_000244.3(MEN1):c.1351C>T (p.Arg451Cys)
NM_000244.3(MEN1):c.1352G>A (p.Arg451His) rs1555164143
NM_000244.3(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_000244.3(MEN1):c.1365+4_1365+6del rs1565639798
NM_000244.3(MEN1):c.1365+5G>A rs1565639811
NM_000244.3(MEN1):c.1365+6G>A rs746077651
NM_000244.3(MEN1):c.1366-9C>G
NM_000244.3(MEN1):c.1369C>T (p.Arg457Trp) rs863224810
NM_000244.3(MEN1):c.1370G>A (p.Arg457Gln) rs775922507
NM_000244.3(MEN1):c.1379T>A (p.Val460Glu) rs878855189
NM_000244.3(MEN1):c.1382G>A (p.Arg461His) rs372468697
NM_000244.3(MEN1):c.1394G>A (p.Arg465Gln) rs200035619
NM_000244.3(MEN1):c.1394G>C (p.Arg465Pro) rs200035619
NM_000244.3(MEN1):c.1404G>C (p.Glu468Asp) rs1555163863
NM_000244.3(MEN1):c.1406C>T (p.Ala469Val) rs778728934
NM_000244.3(MEN1):c.1406_1411dup (p.Ala469_Ala470dup) rs1555163821
NM_000244.3(MEN1):c.1406_1420del (p.Ala469_Glu473del)
NM_000244.3(MEN1):c.1408_1422del (p.Ala470_Glu474del) rs1064792907
NM_000244.3(MEN1):c.1409_1417dup (p.467_469AEA[3])
NM_000244.3(MEN1):c.1412A>T (p.Glu471Val) rs1352053477
NM_000244.3(MEN1):c.1413G>T (p.Glu471Asp) rs990566024
NM_000244.3(MEN1):c.1414G>A (p.Ala472Thr) rs779589005
NM_000244.3(MEN1):c.1421A>C (p.Glu474Ala) rs1565638407
NM_000244.3(MEN1):c.1422_1436del (p.Pro475_Glu479del) rs1033303123
NM_000244.3(MEN1):c.1431C>T (p.Gly477=) rs764509990
NM_000244.3(MEN1):c.1439_1447del (p.Ala480_Glu482del)
NM_000244.3(MEN1):c.1444G>C (p.Glu482Gln) rs863224526
NM_000244.3(MEN1):c.1446A>T (p.Glu482Asp) rs863224811
NM_000244.3(MEN1):c.1451G>C (p.Arg484Pro) rs1555163716
NM_000244.3(MEN1):c.1468C>T (p.Arg490Trp) rs1254459338
NM_000244.3(MEN1):c.146C>T (p.Ala49Val) rs1555166674
NM_000244.3(MEN1):c.1474T>C (p.Ser492Pro) rs1057427859
NM_000244.3(MEN1):c.1480C>T (p.Pro494Ser) rs587778440
NM_000244.3(MEN1):c.1493C>T (p.Pro498Leu) rs766604600
NM_000244.3(MEN1):c.1496C>T (p.Pro499Leu) rs1060499993
NM_000244.3(MEN1):c.1507C>G (p.Pro503Ala)
NM_000244.3(MEN1):c.1521G>C (p.Lys507Asn) rs774296730
NM_000244.3(MEN1):c.1531A>C (p.Thr511Pro) rs1060499994
NM_000244.3(MEN1):c.1532C>T (p.Thr511Ile) rs1347992299
NM_000244.3(MEN1):c.1534G>T (p.Gly512Cys) rs1423874145
NM_000244.3(MEN1):c.1537C>A (p.Gln513Lys) rs386833403
NM_000244.3(MEN1):c.1541G>T (p.Gly514Val) rs769355346
NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu) rs141679530
NM_000244.3(MEN1):c.1555C>A (p.Pro519Thr) rs150202288
NM_000244.3(MEN1):c.1555C>T (p.Pro519Ser) rs150202288
NM_000244.3(MEN1):c.1556C>G (p.Pro519Arg) rs753022747
NM_000244.3(MEN1):c.1556C>T (p.Pro519Leu) rs753022747
NM_000244.3(MEN1):c.1558C>T (p.Pro520Ser) rs779466487
NM_000244.3(MEN1):c.1561C>G (p.Arg521Gly) rs763160290
NM_000244.3(MEN1):c.1562G>A (p.Arg521Gln)
NM_000244.3(MEN1):c.1567C>T (p.Pro523Ser)
NM_000244.3(MEN1):c.1576A>T (p.Thr526Ser) rs1565636917
NM_000244.3(MEN1):c.1577C>G (p.Thr526Ser)
NM_000244.3(MEN1):c.1577C>T (p.Thr526Ile) rs1565636898
NM_000244.3(MEN1):c.1579G>C (p.Val527Leu) rs1060499983
NM_000244.3(MEN1):c.1582G>A (p.Ala528Thr) rs760683615
NM_000244.3(MEN1):c.1582G>C (p.Ala528Pro) rs760683615
NM_000244.3(MEN1):c.1598G>A (p.Gly533Asp) rs1555163392
NM_000244.3(MEN1):c.1609G>T (p.Gly537Cys) rs587780843
NM_000244.3(MEN1):c.1625T>G (p.Val542Gly)
NM_000244.3(MEN1):c.1633C>T (p.Pro545Ser) rs745404679
NM_000244.3(MEN1):c.1636G>C (p.Ala546Pro)
NM_000244.3(MEN1):c.1643C>T (p.Ser548Leu)
NM_000244.3(MEN1):c.1648_1650CCG[3] (p.Pro551dup) rs774350463
NM_000244.3(MEN1):c.1652C>T (p.Pro551Leu) rs779413959
NM_000244.3(MEN1):c.1655A>G (p.Glu552Gly) rs914488914
NM_000244.3(MEN1):c.1663G>C (p.Val555Leu)
NM_000244.3(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_000244.3(MEN1):c.175C>G (p.Pro59Ala) rs1352823623
NM_000244.3(MEN1):c.1769T>G (p.Val590Gly)
NM_000244.3(MEN1):c.176C>G (p.Pro59Arg)
NM_000244.3(MEN1):c.1776G>A (p.Met592Ile) rs1555163058
NM_000244.3(MEN1):c.1777_1779AAG[1] (p.Lys594del) rs1303070443
NM_000244.3(MEN1):c.177C>T (p.Pro59=) rs749001511
NM_000244.3(MEN1):c.1792T>C (p.Ser598Pro) rs1411766225
NM_000244.3(MEN1):c.1811_1812CT[1] (p.Leu605fs) rs1555163017
NM_000244.3(MEN1):c.1841G>T (p.Gly614Val) rs1186858249
NM_000244.3(MEN1):c.184A>C (p.Thr62Pro) rs1555166619
NM_000244.3(MEN1):c.188T>A (p.Phe63Tyr)
NM_000244.3(MEN1):c.189C>G (p.Phe63Leu) rs137880635
NM_000244.3(MEN1):c.193C>A (p.Pro65Thr) rs1235900915
NM_000244.3(MEN1):c.202G>A (p.Ala68Thr) rs1343345477
NM_000244.3(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_000244.3(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_000244.3(MEN1):c.208G>T (p.Asp70Tyr)
NM_000244.3(MEN1):c.210C>A (p.Asp70Glu) rs150308912
NM_000244.3(MEN1):c.211C>T (p.Pro71Ser)
NM_000244.3(MEN1):c.215C>A (p.Pro72His) rs878856863
NM_000244.3(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_000244.3(MEN1):c.236C>T (p.Pro79Leu)
NM_000244.3(MEN1):c.244G>C (p.Asp82His) rs1419086083
NM_000244.3(MEN1):c.246C>G (p.Asp82Glu) rs1238113583
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_000244.3(MEN1):c.269A>G (p.Tyr90Cys) rs1565651873
NM_000244.3(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_000244.3(MEN1):c.283G>T (p.Ala95Ser)
NM_000244.3(MEN1):c.293G>A (p.Arg98Gln)
NM_000244.3(MEN1):c.298G>T (p.Ala100Ser)
NM_000244.3(MEN1):c.299C>T (p.Ala100Val) rs998337367
NM_000244.3(MEN1):c.317A>G (p.Tyr106Cys) rs1555166469
NM_000244.3(MEN1):c.322C>G (p.Arg108Gly) rs794728647
NM_000244.3(MEN1):c.326A>G (p.Glu109Gly) rs1555166447
NM_000244.3(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_000244.3(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_000244.3(MEN1):c.344G>A (p.Arg115His) rs1114167507
NM_000244.3(MEN1):c.352G>A (p.Val118Met) rs1060499975
NM_000244.3(MEN1):c.361G>A (p.Val121Ile) rs863224812
NM_000244.3(MEN1):c.361G>T (p.Val121Phe) rs863224812
NM_000244.3(MEN1):c.366C>T (p.Ser122=)
NM_000244.3(MEN1):c.38T>C (p.Leu13Pro)
NM_000244.3(MEN1):c.38T>G (p.Leu13Arg) rs1262285748
NM_000244.3(MEN1):c.398A>G (p.Tyr133Cys) rs1555166357
NM_000244.3(MEN1):c.403A>C (p.Lys135Gln) rs121913034
NM_000244.3(MEN1):c.409C>T (p.Arg137Trp) rs1208267598
NM_000244.3(MEN1):c.40C>T (p.Arg14Cys)
NM_000244.3(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.461-3C>A rs377461506
NM_000244.3(MEN1):c.473A>T (p.Asp158Val) rs1565648789
NM_000244.3(MEN1):c.481G>A (p.Gly161Ser) rs1085307471
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.484G>A (p.Val162Met) rs1555165872
NM_000244.3(MEN1):c.488C>A (p.Ala163Asp) rs794728617
NM_000244.3(MEN1):c.488C>T (p.Ala163Val) rs794728617
NM_000244.3(MEN1):c.49G>A (p.Asp17Asn) rs1399824473
NM_000244.3(MEN1):c.500T>C (p.Val167Ala) rs748648909
NM_000244.3(MEN1):c.505G>T (p.Ala169Ser)
NM_000244.3(MEN1):c.506C>T (p.Ala169Val) rs1565648547
NM_000244.3(MEN1):c.509G>A (p.Cys170Tyr) rs1057521111
NM_000244.3(MEN1):c.517C>G (p.Leu173Val) rs1555165846
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.541G>T (p.Ala181Ser) rs376872829
NM_000244.3(MEN1):c.544C>G (p.Leu182Val)
NM_000244.3(MEN1):c.552_553delinsTT (p.Glu184_Asp185delinsAspTyr) rs1555165809
NM_000244.3(MEN1):c.569T>C (p.Val190Ala) rs764847812
NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) rs199706698
NM_000244.3(MEN1):c.581A>G (p.Asn194Ser) rs587780844
NM_000244.3(MEN1):c.583G>A (p.Gly195Arg) rs1555165742
NM_000244.3(MEN1):c.584G>A (p.Gly195Glu) rs878855195
NM_000244.3(MEN1):c.593C>G (p.Thr198Arg)
NM_000244.3(MEN1):c.5G>A (p.Gly2Glu)
NM_000244.3(MEN1):c.605C>T (p.Thr202Ile)
NM_000244.3(MEN1):c.612C>A (p.His204Gln) rs150512958
NM_000244.3(MEN1):c.613G>A (p.Gly205Ser)
NM_000244.3(MEN1):c.61C>G (p.Arg21Gly) rs541476418
NM_000244.3(MEN1):c.632G>A (p.Arg211His) rs1565647825
NM_000244.3(MEN1):c.633C>T (p.Arg211=) rs1555165717
NM_000244.3(MEN1):c.642G>C (p.Gln214His) rs1565647751
NM_000244.3(MEN1):c.644C>G (p.Thr215Arg) rs756287855
NM_000244.3(MEN1):c.647T>G (p.Val216Gly) rs1565647698
NM_000244.3(MEN1):c.649A>G (p.Asn217Asp) rs1060499980
NM_000244.3(MEN1):c.650A>G (p.Asn217Ser) rs1438685841
NM_000244.3(MEN1):c.655G>A (p.Gly219Ser) rs781493730
NM_000244.3(MEN1):c.658G>A (p.Val220Met) rs794728621
NM_000244.3(MEN1):c.659_667delinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) rs386134257
NM_000244.3(MEN1):c.661G>C (p.Ala221Pro)
NM_000244.3(MEN1):c.667C>T (p.Arg223Trp) rs794728620
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.670-5C>G rs752563214
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000244.3(MEN1):c.670-6_670-4del rs1555165623
NM_000244.3(MEN1):c.670-7C>A rs771297371
NM_000244.3(MEN1):c.675G>T (p.Trp225Cys) rs886039414
NM_000244.3(MEN1):c.680A>C (p.Tyr227Ser) rs1555165601
NM_000244.3(MEN1):c.697A>G (p.Met233Val) rs1060499982
NM_000244.3(MEN1):c.701G>A (p.Arg234His) rs878855197
NM_000244.3(MEN1):c.709C>T (p.Arg237Cys) rs1225847249
NM_000244.3(MEN1):c.711C>T (p.Arg237=)
NM_000244.3(MEN1):c.713A>C (p.Lys238Thr)
NM_000244.3(MEN1):c.717G>A (p.Met239Ile) rs1448041546
NM_000244.3(MEN1):c.71C>T (p.Ala24Val) rs1328062930
NM_000244.3(MEN1):c.725C>T (p.Ala242Val) rs760289964
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.74C>T (p.Ala25Val) rs1462138625
NM_000244.3(MEN1):c.751T>G (p.Ser251Ala) rs1175283759
NM_000244.3(MEN1):c.754A>G (p.Ile252Val) rs1555165508
NM_000244.3(MEN1):c.769G>C (p.Asp257His) rs770368608
NM_000244.3(MEN1):c.769G>T (p.Asp257Tyr) rs770368608
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.773C>G (p.Ser258Trp) rs386134259
NM_000244.3(MEN1):c.773C>T (p.Ser258Leu) rs386134259
NM_000244.3(MEN1):c.778G>C (p.Glu260Gln) rs104894268
NM_000244.3(MEN1):c.781C>T (p.Leu261Phe) rs878855198
NM_000244.3(MEN1):c.785_790TGCAGC[3] (p.262_263LQ[3]) rs1555165485
NM_000244.3(MEN1):c.787C>G (p.Gln263Glu) rs886039416
NM_000244.3(MEN1):c.789G>C (p.Gln263His) rs374659656
NM_000244.3(MEN1):c.799-10C>A rs71526470
NM_000244.3(MEN1):c.799-19TC[2] rs764290037
NM_000244.3(MEN1):c.800A>G (p.Lys267Arg) rs1555165373
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.816C>G (p.Leu272=) rs760850856
NM_000244.3(MEN1):c.818A>G (p.Tyr273Cys) rs773500082
NM_000244.3(MEN1):c.820G>A (p.Asp274Asn) rs878855199
NM_000244.3(MEN1):c.826G>A (p.Gly276Arg) rs1565645918
NM_000244.3(MEN1):c.833T>C (p.Leu278Pro)
NM_000244.3(MEN1):c.838A>G (p.Arg280Gly)
NM_000244.3(MEN1):c.840-10C>G rs999121619
NM_000244.3(MEN1):c.842A>G (p.Tyr281Cys) rs1555165327
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.845C>T (p.Pro282Leu) rs1060499973
NM_000244.3(MEN1):c.848T>G (p.Met283Arg)
NM_000244.3(MEN1):c.854T>C (p.Leu285Ser)
NM_000244.3(MEN1):c.883G>A (p.Glu295Lys)
NM_000244.3(MEN1):c.884A>C (p.Glu295Ala) rs1213891703
NM_000244.3(MEN1):c.884A>T (p.Glu295Val)
NM_000244.3(MEN1):c.895G>A (p.Gly299Ser) rs1565645429
NM_000244.3(MEN1):c.898C>T (p.Arg300Trp) rs1046929915
NM_000244.3(MEN1):c.899G>A (p.Arg300Gln) rs1397110438
NM_000244.3(MEN1):c.907C>G (p.Pro303Ala) rs1555165268
NM_000244.3(MEN1):c.923A>G (p.His308Arg)
NM_000244.3(MEN1):c.927+5G>A
NM_000244.3(MEN1):c.928G>A (p.Gly310Ser) rs1555165146
NM_000244.3(MEN1):c.92A>G (p.Glu31Gly) rs1060499977
NM_000244.3(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_000244.3(MEN1):c.947C>T (p.Thr316Ile) rs1565644342
NM_000244.3(MEN1):c.94C>T (p.Pro32Ser) rs773089218
NM_000244.3(MEN1):c.950A>T (p.Tyr317Phe)
NM_000244.3(MEN1):c.956G>A (p.Arg319Gln) rs771645621
NM_000244.3(MEN1):c.967A>G (p.Ile323Val) rs1565644220
NM_000244.3(MEN1):c.970T>G (p.Tyr324Asp) rs1555165101
NM_000244.3(MEN1):c.979A>G (p.Met327Val) rs1555165089
NM_000244.3(MEN1):c.979A>T (p.Met327Leu) rs1555165089
NM_000244.3(MEN1):c.981G>A (p.Met327Ile) rs947594206
NM_000244.3(MEN1):c.987G>A (p.Leu329=)
NM_000244.3(MEN1):c.989C>A (p.Ala330Asp) rs370840265
NM_000244.3(MEN1):c.995A>G (p.Tyr332Cys) rs377403837
NM_000244.3(MEN1):c.997C>A (p.His333Asn) rs794727882
NM_000244.3(MEN1):c.997C>G (p.His333Asp) rs794727882
NM_000546.5(TP53):c.-202_-29+?dup174
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.784_786delGGT rs1567548347
NM_000546.5(TP53):c.993+13G>C rs369599972
NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001126112.2(TP53):c.*1160T>G rs886053499
NM_001126112.2(TP53):c.*1175A>C rs78378222
NM_001126112.2(TP53):c.*327C>T rs886053512
NM_001126112.2(TP53):c.*346G>T rs886053511
NM_001126112.2(TP53):c.*347T>C rs886053510
NM_001126112.2(TP53):c.*382C>T rs886053509
NM_001126112.2(TP53):c.*548G>T rs886053508
NM_001126112.2(TP53):c.*565G>T rs886053507
NM_001126112.2(TP53):c.*626C>T rs886053506
NM_001126112.2(TP53):c.*735C>A rs886053505
NM_001126112.2(TP53):c.*747C>T rs886053504
NM_001126112.2(TP53):c.*754C>T rs199729221
NM_001126112.2(TP53):c.*772del rs200757381
NM_001126112.2(TP53):c.*779del rs886053503
NM_001126112.2(TP53):c.*790G>A rs886053502
NM_001126112.2(TP53):c.*806C>A rs886053501
NM_001126112.2(TP53):c.*977G>C rs886053500
NM_001126112.2(TP53):c.*99G>A rs886053513
NM_001126112.2(TP53):c.-70C>A rs886053514
NM_001126112.2(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_001126112.2(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_001126112.2(TP53):c.1004G>A (p.Arg335His) rs771939956
NM_001126112.2(TP53):c.1009C>G (p.Arg337Gly) rs587782529
NM_001126112.2(TP53):c.100C>A (p.Pro34Thr) rs786201968
NM_001126112.2(TP53):c.100C>G (p.Pro34Ala) rs786201968
NM_001126112.2(TP53):c.1015G>C (p.Glu339Gln) rs17882252
NM_001126112.2(TP53):c.1025G>A (p.Arg342Gln) rs375338359
NM_001126112.2(TP53):c.1036G>A (p.Glu346Lys)
NM_001126112.2(TP53):c.1039G>A (p.Ala347Thr)
NM_001126112.2(TP53):c.103T>A (p.Leu35Met) rs1060501211
NM_001126112.2(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_001126112.2(TP53):c.1042T>G (p.Leu348Val) rs1060501193
NM_001126112.2(TP53):c.1045G>C (p.Glu349Gln)
NM_001126112.2(TP53):c.1052A>G (p.Lys351Arg) rs1555524396
NM_001126112.2(TP53):c.105G>C (p.Leu35Phe) rs121912661
NM_001126112.2(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_001126112.2(TP53):c.1064C>T (p.Ala355Val) rs1555524382
NM_001126112.2(TP53):c.1066G>C (p.Gly356Arg) rs766786605
NM_001126112.2(TP53):c.1069A>G (p.Lys357Glu) rs1567541856
NM_001126112.2(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_001126112.2(TP53):c.1079G>A (p.Gly360Glu) rs35993958
NM_001126112.2(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_001126112.2(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_001126112.2(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_001126112.2(TP53):c.1084A>T (p.Ser362Cys) rs1287887419
NM_001126112.2(TP53):c.1085G>A (p.Ser362Asn) rs768803947
NM_001126112.2(TP53):c.1087A>G (p.Arg363Gly) rs745751553
NM_001126112.2(TP53):c.1091C>T (p.Ala364Val) rs1567541711
NM_001126112.2(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_001126112.2(TP53):c.1096T>C (p.Ser366Pro) rs17881470
NM_001126112.2(TP53):c.1100+5G>A
NM_001126112.2(TP53):c.1101-1G>A rs876658982
NM_001126112.2(TP53):c.1102C>T (p.His368Tyr) rs786204227
NM_001126112.2(TP53):c.1104C>A (p.His368Gln)
NM_001126112.2(TP53):c.1104C>G (p.His368Gln) rs1289241865
NM_001126112.2(TP53):c.110C>T (p.Ser37Phe) rs1567557177
NM_001126112.2(TP53):c.1118A>G (p.Lys373Arg) rs1567540504
NM_001126112.2(TP53):c.1120G>C (p.Gly374Arg) rs587781858
NM_001126112.2(TP53):c.1120G>T (p.Gly374Cys)
NM_001126112.2(TP53):c.1121del (p.Gly374fs) rs878854063
NM_001126112.2(TP53):c.1123C>T (p.Gln375Ter) rs1555524156
NM_001126112.2(TP53):c.1129A>G (p.Thr377Ala) rs774269719
NM_001126112.2(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_001126112.2(TP53):c.1135C>T (p.Arg379Cys) rs749061599
NM_001126112.2(TP53):c.1136G>A (p.Arg379His) rs863224682
NM_001126112.2(TP53):c.1136G>T (p.Arg379Leu) rs863224682
NM_001126112.2(TP53):c.1140del (p.His380fs) rs1555524108
NM_001126112.2(TP53):c.1146A>G (p.Lys382=) rs1567540280
NM_001126112.2(TP53):c.1150A>G (p.Met384Val) rs730882009
NM_001126112.2(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_001126112.2(TP53):c.1151T>G (p.Met384Arg) rs1060501196
NM_001126112.2(TP53):c.1152G>A (p.Met384Ile)
NM_001126112.2(TP53):c.1160del (p.Thr387fs)
NM_001126112.2(TP53):c.1163A>C (p.Glu388Ala) rs587781736
NM_001126112.2(TP53):c.1165G>A (p.Gly389Arg) rs587783064
NM_001126112.2(TP53):c.1165G>T (p.Gly389Trp) rs587783064
NM_001126112.2(TP53):c.116C>T (p.Ala39Val) rs1353016807
NM_001126112.2(TP53):c.1177del (p.Asp393fs) rs1555524083
NM_001126112.2(TP53):c.1180T>A (p.Ter394Arg)
NM_001126112.2(TP53):c.1182A>T (p.Ter394Cys) rs1555524074
NM_001126112.2(TP53):c.118A>G (p.Met40Val)
NM_001126112.2(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_001126112.2(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_001126112.2(TP53):c.121G>A (p.Asp41Asn) rs1555526789
NM_001126112.2(TP53):c.123T>C (p.Asp41=) rs369129220
NM_001126112.2(TP53):c.127T>A (p.Leu43Met)
NM_001126112.2(TP53):c.132G>A (p.Met44Ile) rs1060501190
NM_001126112.2(TP53):c.133C>G (p.Leu45Val)
NM_001126112.2(TP53):c.137C>A (p.Ser46Tyr)
NM_001126112.2(TP53):c.139C>A (p.Pro47Thr) rs1800371
NM_001126112.2(TP53):c.144C>A (p.Asp48Glu) rs587781460
NM_001126112.2(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_001126112.2(TP53):c.145G>C (p.Asp49His) rs587780728
NM_001126112.2(TP53):c.146A>G (p.Asp49Gly) rs759728549
NM_001126112.2(TP53):c.149T>A (p.Ile50Asn) rs370502517
NM_001126112.2(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_001126112.2(TP53):c.14A>G (p.Gln5Arg) rs781595324
NM_001126112.2(TP53):c.152A>G (p.Glu51Gly) rs1567556923
NM_001126112.2(TP53):c.155A>G (p.Gln52Arg) rs774656101
NM_001126112.2(TP53):c.171C>A (p.Asp57Glu) rs587782776
NM_001126112.2(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_001126112.2(TP53):c.188C>G (p.Ala63Gly) rs372201428
NM_001126112.2(TP53):c.188C>T (p.Ala63Val) rs372201428
NM_001126112.2(TP53):c.194G>C (p.Arg65Thr) rs1060501210
NM_001126112.2(TP53):c.200C>A (p.Pro67Gln) rs1555526709
NM_001126112.2(TP53):c.205G>A (p.Ala69Thr) rs1567556618
NM_001126112.2(TP53):c.206C>G (p.Ala69Gly) rs756233241
NM_001126112.2(TP53):c.206C>T (p.Ala69Val) rs756233241
NM_001126112.2(TP53):c.211C>G (p.Pro71Ala) rs1567556576
NM_001126112.2(TP53):c.211C>T (p.Pro71Ser) rs1567556576
NM_001126112.2(TP53):c.212C>G (p.Pro71Arg) rs878854065
NM_001126112.2(TP53):c.214C>G (p.Pro72Ala) rs587782769
NM_001126112.2(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_001126112.2(TP53):c.215C>A (p.Pro72His) rs1042522
NM_001126112.2(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_001126112.2(TP53):c.217G>A (p.Val73Met) rs587782423
NM_001126112.2(TP53):c.219G>A (p.Val73=) rs1567556473
NM_001126112.2(TP53):c.21T>A (p.Asp7Glu) rs587781277
NM_001126112.2(TP53):c.221C>T (p.Ala74Val) rs587781832
NM_001126112.2(TP53):c.229C>A (p.Pro77Thr) rs753085009
NM_001126112.2(TP53):c.229C>T (p.Pro77Ser) rs753085009
NM_001126112.2(TP53):c.22C>A (p.Pro8Thr)
NM_001126112.2(TP53):c.233C>G (p.Ala78Gly) rs876658527
NM_001126112.2(TP53):c.234A>G (p.Ala78=) rs375099397
NM_001126112.2(TP53):c.234_263del (p.Ala79_Ala88del) rs754312472
NM_001126112.2(TP53):c.236C>G (p.Ala79Gly)
NM_001126112.2(TP53):c.238C>T (p.Pro80Ser) rs1060501204
NM_001126112.2(TP53):c.242C>T (p.Thr81Ile) rs1567556386
NM_001126112.2(TP53):c.245C>G (p.Pro82Arg) rs534447939
NM_001126112.2(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_001126112.2(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_001126112.2(TP53):c.250G>A (p.Ala84Thr) rs587781307
NM_001126112.2(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_001126112.2(TP53):c.257C>T (p.Ala86Val)
NM_001126112.2(TP53):c.25A>C (p.Ser9Arg) rs1555527017
NM_001126112.2(TP53):c.266C>T (p.Pro89Leu) rs730881994
NM_001126112.2(TP53):c.269C>T (p.Ser90Phe) rs1555526625
NM_001126112.2(TP53):c.26G>A (p.Ser9Asn) rs1555527015
NM_001126112.2(TP53):c.275C>T (p.Pro92Leu) rs1210700121
NM_001126112.2(TP53):c.283_285TCT[1] (p.Ser96del) rs878854068
NM_001126112.2(TP53):c.285T>G (p.Ser95=) rs876658696
NM_001126112.2(TP53):c.289G>T (p.Val97Phe) rs730882023
NM_001126112.2(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_001126112.2(TP53):c.28G>C (p.Val10Leu) rs535274413
NM_001126112.2(TP53):c.293C>T (p.Pro98Leu) rs1245723119
NM_001126112.2(TP53):c.296C>G (p.Ser99Cys) rs1567556019
NM_001126112.2(TP53):c.296C>T (p.Ser99Phe) rs1567556019
NM_001126112.2(TP53):c.301A>C (p.Lys101Gln)
NM_001126112.2(TP53):c.303A>T (p.Lys101Asn) rs878854069
NM_001126112.2(TP53):c.304A>T (p.Thr102Ser) rs1567555968
NM_001126112.2(TP53):c.305C>T (p.Thr102Ile) rs786202717
NM_001126112.2(TP53):c.307T>C (p.Tyr103His) rs1555526589
NM_001126112.2(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_001126112.2(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_001126112.2(TP53):c.319T>A (p.Tyr107Asn) rs368771578
NM_001126112.2(TP53):c.319T>G (p.Tyr107Asp)
NM_001126112.2(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_001126112.2(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_001126112.2(TP53):c.320A>G (p.Tyr107Cys) rs587782447
NM_001126112.2(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_001126112.2(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_001126112.2(TP53):c.322_324del (p.Gly108del) rs587783063
NM_001126112.2(TP53):c.324_326del (p.Phe109del) rs1567555808
NM_001126112.2(TP53):c.328C>A (p.Arg110Ser) rs587781371
NM_001126112.2(TP53):c.328C>T (p.Arg110Cys) rs587781371
NM_001126112.2(TP53):c.329G>A (p.Arg110His) rs11540654
NM_001126112.2(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_001126112.2(TP53):c.337T>G (p.Phe113Val) rs587781642
NM_001126112.2(TP53):c.341T>C (p.Leu114Ser) rs781724995
NM_001126112.2(TP53):c.343C>A (p.His115Asn) rs1555526532
NM_001126112.2(TP53):c.344A>G (p.His115Arg) rs730881996
NM_001126112.2(TP53):c.346T>G (p.Ser116Ala)
NM_001126112.2(TP53):c.353C>T (p.Thr118Ile) rs1064794141
NM_001126112.2(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_001126112.2(TP53):c.35C>A (p.Pro12His) rs1482497533
NM_001126112.2(TP53):c.35C>G (p.Pro12Arg)
NM_001126112.2(TP53):c.35C>T (p.Pro12Leu) rs1482497533
NM_001126112.2(TP53):c.364G>A (p.Val122Met) rs587781495
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.375+1_375+5dup rs1555526468
NM_001126112.2(TP53):c.375+4A>G rs1060501192
NM_001126112.2(TP53):c.375+4_375+5dup rs1555526467
NM_001126112.2(TP53):c.375+5G>C rs1555526466
NM_001126112.2(TP53):c.375+6T>C rs730881998
NM_001126112.2(TP53):c.376-2dup rs751253294
NM_001126112.2(TP53):c.376T>A (p.Tyr126Asn) rs886039483
NM_001126112.2(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_001126112.2(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_001126112.2(TP53):c.37C>T (p.Pro13Ser) rs1060501208
NM_001126112.2(TP53):c.380C>A (p.Ser127Tyr)
NM_001126112.2(TP53):c.380C>G (p.Ser127Cys) rs730881999
NM_001126112.2(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_001126112.2(TP53):c.382C>A (p.Pro128Thr) rs1555526327
NM_001126112.2(TP53):c.386C>G (p.Ala129Gly) rs137852792
NM_001126112.2(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_001126112.2(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_001126112.2(TP53):c.38C>T (p.Pro13Leu) rs878854070
NM_001126112.2(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_001126112.2(TP53):c.393C>A (p.Asn131Lys) rs769270327
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.397A>G (p.Met133Val) rs1057280220
NM_001126112.2(TP53):c.399G>A (p.Met133Ile) rs1064795139
NM_001126112.2(TP53):c.400T>C (p.Phe134Leu) rs267605077
NM_001126112.2(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_001126112.2(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_001126112.2(TP53):c.407A>C (p.Gln136Pro) rs1567554216
NM_001126112.2(TP53):c.408A>C (p.Gln136His) rs758781593
NM_001126112.2(TP53):c.40C>G (p.Leu14Val) rs1567558112
NM_001126112.2(TP53):c.413C>A (p.Ala138Asp) rs750600586
NM_001126112.2(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_001126112.2(TP53):c.415A>G (p.Lys139Glu)
NM_001126112.2(TP53):c.417G>T (p.Lys139Asn) rs1567554121
NM_001126112.2(TP53):c.418A>G (p.Thr140Ala)
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.427G>A (p.Val143Met) rs587782620
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.439G>A (p.Val147Ile) rs1555526226
NM_001126112.2(TP53):c.442G>A (p.Asp148Asn) rs1131691007
NM_001126112.2(TP53):c.442G>T (p.Asp148Tyr) rs1131691007
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.457C>T (p.Pro153Ser) rs1064795860
NM_001126112.2(TP53):c.458C>T (p.Pro153Leu)
NM_001126112.2(TP53):c.460G>A (p.Gly154Ser) rs137852789
NM_001126112.2(TP53):c.460G>C (p.Gly154Arg) rs137852789
NM_001126112.2(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_001126112.2(TP53):c.461G>T (p.Gly154Val)
NM_001126112.2(TP53):c.463A>G (p.Thr155Ala) rs772683278
NM_001126112.2(TP53):c.463_468del (p.Thr155_Arg156del) rs1555526166
NM_001126112.2(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_001126112.2(TP53):c.464C>G (p.Thr155Ser) rs786202752
NM_001126112.2(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_001126112.2(TP53):c.467G>A (p.Arg156His) rs371524413
NM_001126112.2(TP53):c.469G>A (p.Val157Ile) rs121912654
NM_001126112.2(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_001126112.2(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_001126112.2(TP53):c.470_475dup (p.Val157_Arg158dup) rs1555526140
NM_001126112.2(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_001126112.2(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_001126112.2(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_001126112.2(TP53):c.480G>A (p.Met160Ile) rs772354334
NM_001126112.2(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_001126112.2(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.48G>C (p.Gln16His)
NM_001126112.2(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_001126112.2(TP53):c.495_497del (p.Ser166del)
NM_001126112.2(TP53):c.497C>T (p.Ser166Leu) rs1555526101
NM_001126112.2(TP53):c.4G>A (p.Glu2Lys) rs769884991
NM_001126112.2(TP53):c.500A>G (p.Gln167Arg)
NM_001126112.2(TP53):c.503A>G (p.His168Arg) rs867114783
NM_001126112.2(TP53):c.506T>G (p.Met169Arg) rs1567553114
NM_001126112.2(TP53):c.508A>G (p.Thr170Ala) rs587780729
NM_001126112.2(TP53):c.509C>T (p.Thr170Met) rs779000871
NM_001126112.2(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_001126112.2(TP53):c.515T>C (p.Val172Ala) rs1131691021
NM_001126112.2(TP53):c.516T>G (p.Val172=) rs749309577
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.519G>A (p.Val173=) rs1292303980
NM_001126112.2(TP53):c.520A>G (p.Arg174Gly) rs864622115
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.529C>A (p.Pro177Thr) rs147002414
NM_001126112.2(TP53):c.529C>T (p.Pro177Ser)
NM_001126112.2(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_001126112.2(TP53):c.530C>T (p.Pro177Leu) rs751477326
NM_001126112.2(TP53):c.534C>A (p.His178Gln) rs1555526001
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.541C>A (p.Arg181Ser) rs587782596
NM_001126112.2(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_001126112.2(TP53):c.551A>G (p.Asp184Gly) rs1060501209
NM_001126112.2(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_001126112.2(TP53):c.556G>A (p.Asp186Asn) rs1060501206
NM_001126112.2(TP53):c.558T>A (p.Asp186Glu) rs375275361
NM_001126112.2(TP53):c.559+4A>G rs1357840734
NM_001126112.2(TP53):c.559+5G>A rs1555525956
NM_001126112.2(TP53):c.559+5G>C
NM_001126112.2(TP53):c.559+6C>A
NM_001126112.2(TP53):c.559+9C>G rs1224204682
NM_001126112.2(TP53):c.560-9T>G rs794727781
NM_001126112.2(TP53):c.565G>T (p.Ala189Ser) rs1555525921
NM_001126112.2(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_001126112.2(TP53):c.568C>T (p.Pro190Ser)
NM_001126112.2(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_001126112.2(TP53):c.569_571CTC[1] (p.Pro191del) rs1555525902
NM_001126112.2(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.586C>G (p.Arg196Gly) rs397516435
NM_001126112.2(TP53):c.587G>A (p.Arg196Gln) rs483352697
NM_001126112.2(TP53):c.589G>A (p.Val197Met) rs786204041
NM_001126112.2(TP53):c.589G>T (p.Val197Leu) rs786204041
NM_001126112.2(TP53):c.590T>A (p.Val197Glu) rs1567551903
NM_001126112.2(TP53):c.591G>A (p.Val197=) rs1567551885
NM_001126112.2(TP53):c.596G>A (p.Gly199Glu) rs1555525857
NM_001126112.2(TP53):c.604C>T (p.Arg202Cys) rs587780072
NM_001126112.2(TP53):c.605G>A (p.Arg202His) rs587778719
NM_001126112.2(TP53):c.607G>A (p.Val203Met) rs730882003
NM_001126112.2(TP53):c.607G>C (p.Val203Leu) rs730882003
NM_001126112.2(TP53):c.607G>T (p.Val203Leu) rs730882003
NM_001126112.2(TP53):c.608T>A (p.Val203Glu)
NM_001126112.2(TP53):c.608_610del (p.Val203del) rs1567551730
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.623A>G (p.Asp208Gly) rs1464727668
NM_001126112.2(TP53):c.628A>T (p.Asn210Tyr) rs1060501200
NM_001126112.2(TP53):c.631A>C (p.Thr211Pro) rs1060501198
NM_001126112.2(TP53):c.631A>G (p.Thr211Ala) rs1060501198
NM_001126112.2(TP53):c.634T>A (p.Phe212Ile) rs1064795766
NM_001126112.2(TP53):c.63C>T (p.Asp21=) rs1800369
NM_001126112.2(TP53):c.640C>A (p.His214Asn) rs876658466
NM_001126112.2(TP53):c.641A>C (p.His214Pro)
NM_001126112.2(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_001126112.2(TP53):c.642T>G (p.His214Gln) rs587781386
NM_001126112.2(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_001126112.2(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.646G>C (p.Val216Leu) rs730882025
NM_001126112.2(TP53):c.649G>A (p.Val217Met) rs35163653
NM_001126112.2(TP53):c.653T>G (p.Val218Gly) rs1555525743
NM_001126112.2(TP53):c.661G>A (p.Glu221Lys) rs786201592
NM_001126112.2(TP53):c.662A>C (p.Glu221Ala) rs1567551121
NM_001126112.2(TP53):c.664C>T (p.Pro222Ser) rs1060501203
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.668C>T (p.Pro223Leu) rs138983188
NM_001126112.2(TP53):c.66A>G (p.Leu22=) rs748527030
NM_001126112.2(TP53):c.672+4T>C
NM_001126112.2(TP53):c.673-4C>G rs1555525586
NM_001126112.2(TP53):c.673-5C>G rs876658684
NM_001126112.2(TP53):c.676G>A (p.Gly226Ser)
NM_001126112.2(TP53):c.677G>T (p.Gly226Val) rs970212462
NM_001126112.2(TP53):c.685T>C (p.Cys229Arg) rs1064794312
NM_001126112.2(TP53):c.686G>C (p.Cys229Ser) rs1064793603
NM_001126112.2(TP53):c.692C>T (p.Thr231Ile) rs1555525564
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.703A>T (p.Asn235Tyr) rs786204145
NM_001126112.2(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_001126112.2(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_001126112.2(TP53):c.709A>G (p.Met237Val) rs730882004
NM_001126112.2(TP53):c.710T>C (p.Met237Thr) rs765848205
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.716_721del (p.Asn239_Ser241delinsThr)
NM_001126112.2(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_001126112.2(TP53):c.720T>G (p.Ser240Arg) rs764342812
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.724_726dup (p.Cys242dup)
NM_001126112.2(TP53):c.725G>C (p.Cys242Ser)
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.727A>G (p.Met243Val) rs786203117
NM_001126112.2(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.730_738del (p.Gly244_Met246del)
NM_001126112.2(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.736A>T (p.Met246Leu) rs483352695
NM_001126112.2(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_001126112.2(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_001126112.2(TP53):c.740A>G (p.Asn247Ser) rs786201762
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.747G>C (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_001126112.2(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_001126112.2(TP53):c.753C>G (p.Ile251Met) rs878854074
NM_001126112.2(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_001126112.2(TP53):c.761T>G (p.Ile254Ser)
NM_001126112.2(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_001126112.2(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_001126112.2(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_001126112.2(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_001126112.2(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_001126112.2(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_001126112.2(TP53):c.773A>C (p.Glu258Ala) rs1060501201
NM_001126112.2(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_001126112.2(TP53):c.776A>G (p.Asp259Gly) rs745425759
NM_001126112.2(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_001126112.2(TP53):c.779C>A (p.Ser260Tyr) rs876658916
NM_001126112.2(TP53):c.782+3C>A rs1555525425
NM_001126112.2(TP53):c.782+3C>T rs1555525425
NM_001126112.2(TP53):c.782+6G>A rs1008479744
NM_001126112.2(TP53):c.783-7T>G
NM_001126112.2(TP53):c.783-8C>G rs1567548432
NM_001126112.2(TP53):c.783T>C (p.Ser261=) rs863224684
NM_001126112.2(TP53):c.784G>A (p.Gly262Ser) rs200579969
NM_001126112.2(TP53):c.785G>T (p.Gly262Val) rs1131691025
NM_001126112.2(TP53):c.787A>C (p.Asn263His) rs72661119
NM_001126112.2(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_001126112.2(TP53):c.790C>A (p.Leu264Ile)
NM_001126112.2(TP53):c.791T>C (p.Leu264Pro) rs1555525353
NM_001126112.2(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.79C>A (p.Pro27Thr) rs922736614
NM_001126112.2(TP53):c.79C>T (p.Pro27Ser) rs922736614
NM_001126112.2(TP53):c.800G>A (p.Arg267Gln) rs587780075
NM_001126112.2(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_001126112.2(TP53):c.805A>C (p.Ser269Arg)
NM_001126112.2(TP53):c.80C>G (p.Pro27Arg)
NM_001126112.2(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_001126112.2(TP53):c.811_812delinsTT (p.Glu271Leu) rs1567548090
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.814G>C (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.815T>C (p.Val272Ala) rs876660333
NM_001126112.2(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_001126112.2(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_001126112.2(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_001126112.2(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_001126112.2(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_001126112.2(TP53):c.830G>C (p.Cys277Ser)
NM_001126112.2(TP53):c.830G>T (p.Cys277Phe) rs763098116
NM_001126112.2(TP53):c.831_848dup (p.Pro278_Arg283dup) rs786204061
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_001126112.2(TP53):c.847C>G (p.Arg283Gly) rs149633775
NM_001126112.2(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001126112.2(TP53):c.848G>A (p.Arg283His) rs371409680
NM_001126112.2(TP53):c.850A>T (p.Thr284Ser) rs1204379654
NM_001126112.2(TP53):c.851C>T (p.Thr284Ile) rs863224685
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.859G>A (p.Glu287Lys) rs587782006
NM_001126112.2(TP53):c.85_87AAC[1] (p.Asn30del) rs587782270
NM_001126112.2(TP53):c.868C>T (p.Arg290Cys) rs770374782
NM_001126112.2(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001126112.2(TP53):c.869G>C (p.Arg290Pro) rs55819519
NM_001126112.2(TP53):c.870_871delinsAC (p.Lys291Gln) rs1060501205
NM_001126112.2(TP53):c.871A>G (p.Lys291Glu) rs1555525126
NM_001126112.2(TP53):c.873G>C (p.Lys291Asn) rs372613518
NM_001126112.2(TP53):c.875A>G (p.Lys292Arg) rs121912663
NM_001126112.2(TP53):c.877G>T (p.Gly293Trp) rs587780076
NM_001126112.2(TP53):c.87C>G (p.Asn29Lys)
NM_001126112.2(TP53):c.883C>T (p.Pro295Ser) rs1131691006
NM_001126112.2(TP53):c.884C>T (p.Pro295Leu) rs751713111
NM_001126112.2(TP53):c.886C>T (p.His296Tyr) rs672601296
NM_001126112.2(TP53):c.891C>A (p.His297Gln)
NM_001126112.2(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_001126112.2(TP53):c.8A>G (p.Glu3Gly) rs786203938
NM_001126112.2(TP53):c.904G>C (p.Gly302Arg) rs863224686
NM_001126112.2(TP53):c.905G>A (p.Gly302Glu) rs1060501202
NM_001126112.2(TP53):c.907A>G (p.Ser303Gly) rs587782391
NM_001126112.2(TP53):c.908G>A (p.Ser303Asn) rs876658714
NM_001126112.2(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001126112.2(TP53):c.919+5G>C rs766127339
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001126112.2(TP53):c.920C>T (p.Ala307Val)
NM_001126112.2(TP53):c.925C>T (p.Pro309Ser) rs1555525012
NM_001126112.2(TP53):c.928A>G (p.Asn310Asp)
NM_001126112.2(TP53):c.930C>A (p.Asn310Lys) rs876660829
NM_001126112.2(TP53):c.931A>C (p.Asn311His) rs1555525007
NM_001126112.2(TP53):c.932A>C (p.Asn311Thr) rs56184981
NM_001126112.2(TP53):c.932A>G (p.Asn311Ser) rs56184981
NM_001126112.2(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001126112.2(TP53):c.941C>T (p.Ser314Phe) rs751440465
NM_001126112.2(TP53):c.943T>A (p.Ser315Thr) rs762620193
NM_001126112.2(TP53):c.946C>A (p.Pro316Thr) rs772773208
NM_001126112.2(TP53):c.947C>T (p.Pro316Leu) rs1555524979
NM_001126112.2(TP53):c.949C>A (p.Gln317Lys) rs764735889
NM_001126112.2(TP53):c.950A>G (p.Gln317Arg) rs1159579789
NM_001126112.2(TP53):c.951G>T (p.Gln317His) rs1060501199
NM_001126112.2(TP53):c.957_959GAA[1] (p.Lys321del) rs1567546114
NM_001126112.2(TP53):c.96+5G>A rs1567557622
NM_001126112.2(TP53):c.964C>T (p.Pro322Ser) rs863224687
NM_001126112.2(TP53):c.96G>A (p.Leu32=)
NM_001126112.2(TP53):c.97-3C>T rs786203749
NM_001126112.2(TP53):c.97-9C>T rs202217267
NM_001126112.2(TP53):c.970G>C (p.Asp324His) rs1064794810
NM_001126112.2(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_001126112.2(TP53):c.983T>C (p.Phe328Ser)
NM_001126112.2(TP53):c.986C>T (p.Thr329Ile)
NM_001126112.2(TP53):c.989T>C (p.Leu330Pro)
NM_001126112.2(TP53):c.98C>A (p.Ser33Tyr) rs1555526832
NM_001126112.2(TP53):c.98C>T (p.Ser33Phe)
NM_001126112.2(TP53):c.993+5T>G
NM_001126112.2(TP53):c.993+7A>G rs1023206153
NM_001126112.2(TP53):c.996C>G (p.Ile332Met) rs1555524470
NM_001126112.2(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_001126112.2(TP53):c.998G>A (p.Arg333His) rs573154688
NM_001126113.2(TP53):c.1009C>T (p.Arg337Ter) rs554738122
NM_001126113.2(TP53):c.1028T>A (p.Ile343Lys) rs1567545268
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) rs150008607
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921
NM_002734.4(PRKAR1A):c.177+7A>G rs1555811756
NM_002734.4(PRKAR1A):c.441-5T>G rs771949207
NM_002734.4(PRKAR1A):c.769+3G>A rs1555814484
NM_002734.4(PRKAR1A):c.891+6G>A rs1222751049
NM_002734.4(PRKAR1A):c.891+6G>T
NM_002734.4(PRKAR1A):c.973+4T>G rs1555815055
NM_002734.4(PRKAR1A):c.974-6C>A rs745570426
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147
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_016592.4(GNAS):c.*42+12884C>T
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124
NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.3(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_212472.2(PRKAR1A):c.*1014A>G rs886053311
NM_212472.2(PRKAR1A):c.*1062A>G rs752303671
NM_212472.2(PRKAR1A):c.*1118dup rs886053312
NM_212472.2(PRKAR1A):c.*1168A>T rs886053313
NM_212472.2(PRKAR1A):c.*1487C>T rs886053314
NM_212472.2(PRKAR1A):c.*1839G>A rs886053316
NM_212472.2(PRKAR1A):c.*1842A>T rs886053317
NM_212472.2(PRKAR1A):c.*2067T>C rs886053318
NM_212472.2(PRKAR1A):c.*2072G>A rs886053319
NM_212472.2(PRKAR1A):c.*2196C>T rs886053320
NM_212472.2(PRKAR1A):c.*389T>G rs886053307
NM_212472.2(PRKAR1A):c.*526G>A rs886053308
NM_212472.2(PRKAR1A):c.*587del rs398041821
NM_212472.2(PRKAR1A):c.*704T>G rs886053310
NM_212472.2(PRKAR1A):c.*724T>A rs746409603
NM_212472.2(PRKAR1A):c.-47C>A rs886053305
NM_212472.2(PRKAR1A):c.-6-7C>T rs373646911
NM_212472.2(PRKAR1A):c.-84C>T rs886053304
NM_212472.2(PRKAR1A):c.101C>G (p.Ser34Cys) rs944887425
NM_212472.2(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819
NM_212472.2(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566
NM_212472.2(PRKAR1A):c.1031C>T (p.Pro344Leu)
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.1042G>A (p.Val348Ile) rs772571340
NM_212472.2(PRKAR1A):c.1062A>G (p.Arg354=)
NM_212472.2(PRKAR1A):c.1079G>T (p.Gly360Val)
NM_212472.2(PRKAR1A):c.1081C>G (p.Pro361Ala)
NM_212472.2(PRKAR1A):c.1088C>T (p.Ser363Leu) rs1555815165
NM_212472.2(PRKAR1A):c.121G>A (p.Ala41Thr) rs1356757839
NM_212472.2(PRKAR1A):c.125G>A (p.Arg42Gln)
NM_212472.2(PRKAR1A):c.13A>C (p.Ser5Arg)
NM_212472.2(PRKAR1A):c.151A>G (p.Arg51Gly) rs967277610
NM_212472.2(PRKAR1A):c.155A>G (p.Glu52Gly)
NM_212472.2(PRKAR1A):c.166A>G (p.Arg56Gly)
NM_212472.2(PRKAR1A):c.178-3C>T
NM_212472.2(PRKAR1A):c.196C>A (p.Gln66Lys)
NM_212472.2(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_212472.2(PRKAR1A):c.218C>G (p.Thr73Ser)
NM_212472.2(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_212472.2(PRKAR1A):c.221G>C (p.Arg74Pro)
NM_212472.2(PRKAR1A):c.25A>G (p.Ser9Gly)
NM_212472.2(PRKAR1A):c.260C>T (p.Pro87Leu)
NM_212472.2(PRKAR1A):c.271G>A (p.Val91Ile) rs759197325
NM_212472.2(PRKAR1A):c.280_282AGG[1] (p.Arg97del)
NM_212472.2(PRKAR1A):c.287G>A (p.Arg96Gln) rs1555813215
NM_212472.2(PRKAR1A):c.296C>T (p.Ala99Val) rs1568695224
NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_212472.2(PRKAR1A):c.317C>T (p.Thr106Met)
NM_212472.2(PRKAR1A):c.320A>C (p.Glu107Ala)
NM_212472.2(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_212472.2(PRKAR1A):c.349-5T>C rs1456043929
NM_212472.2(PRKAR1A):c.355C>A (p.Pro119Thr)
NM_212472.2(PRKAR1A):c.35C>G (p.Ala12Gly)
NM_212472.2(PRKAR1A):c.424_426GAT[1] (p.Asp143del)
NM_212472.2(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_212472.2(PRKAR1A):c.470C>T (p.Ser157Phe) rs776071358
NM_212472.2(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434
NM_212472.2(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_212472.2(PRKAR1A):c.4G>C (p.Glu2Gln)
NM_212472.2(PRKAR1A):c.502+2dup rs1555813585
NM_212472.2(PRKAR1A):c.506A>G (p.Asp169Gly)
NM_212472.2(PRKAR1A):c.535C>G (p.Gln179Glu)
NM_212472.2(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_212472.2(PRKAR1A):c.552C>G (p.Val184=) rs751501857
NM_212472.2(PRKAR1A):c.567A>C (p.Glu189Asp) rs767405408
NM_212472.2(PRKAR1A):c.567A>T (p.Glu189Asp)
NM_212472.2(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_212472.2(PRKAR1A):c.577A>G (p.Ser193Gly)
NM_212472.2(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109
NM_212472.2(PRKAR1A):c.60C>G (p.Leu20=) rs372451862
NM_212472.2(PRKAR1A):c.626C>T (p.Thr209Ile)
NM_212472.2(PRKAR1A):c.64G>T (p.Val22Phe) rs878854561
NM_212472.2(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_212472.2(PRKAR1A):c.733A>G (p.Met245Val)
NM_212472.2(PRKAR1A):c.73C>T (p.His25Tyr)
NM_212472.2(PRKAR1A):c.761C>G (p.Ser254Cys) rs1555814475
NM_212472.2(PRKAR1A):c.778G>C (p.Asp260His) rs1255519868
NM_212472.2(PRKAR1A):c.782A>G (p.Lys261Arg) rs1568701297
NM_212472.2(PRKAR1A):c.838C>G (p.Gln280Glu) rs1568701408
NM_212472.2(PRKAR1A):c.850G>A (p.Val284Met)
NM_212472.2(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_212472.2(PRKAR1A):c.86C>T (p.Ala29Val)
NM_212472.2(PRKAR1A):c.914G>A (p.Arg305His) rs768253469
NM_212472.2(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434
NM_212472.2(PRKAR1A):c.959C>T (p.Pro320Leu)
NM_212472.2(PRKAR1A):c.972T>C (p.Phe324=)
NM_212472.2(PRKAR1A):c.973+3A>T rs745972497
Single allele

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