ClinVar Miner

List of variants studied for PTEN hamartoma tumor syndrome by Invitae

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 754
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NC_000010.10:g.(?_88635625)_(89653886_?)del
NC_000010.10:g.(?_89622918)_(89624325_?)dup
NC_000010.10:g.(?_89622928)_(89624315_?)del
NC_000010.10:g.(?_89622928)_(89712026_?)del
NC_000010.10:g.(?_89622928)_(89725239_?)dup
NC_000010.10:g.(?_89653772)_(89653876_?)del
NC_000010.10:g.(?_89653772)_(89725239_?)del
NC_000010.10:g.(?_89653782)_(89653866_?)del
NC_000010.10:g.(?_89690783)_(89717796_?)del
NC_000010.10:g.(?_89690793)_(89690856_?)del
NC_000010.10:g.(?_89690797)_(89693014_?)del
NC_000010.10:g.(?_89711869)_(89712022_?)del
NC_000010.10:g.(?_89720598)_(89720635_?)del38
NC_000011.9:g.(?_111957622)_(111965704_?)del
NC_000011.9:g.(?_111957622)_(111965704_?)dup
NC_000011.9:g.(?_111959581)_(111965704_?)del
NC_000011.9:g.(?_111965519)_(111965704_?)del
NC_000011.9:g.(?_111965523)_(111965700_?)del
NC_000020.10:g.(?_18492869)_(18496380_?)del
NM_000314.6(PTEN):c.80-?_492+?del
NM_000314.6(PTEN):c.802-3dupT rs34003473
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.7(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.7(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.7(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.7(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.7(PTEN):c.1020T>A (p.Asn340Lys) rs1554825649
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+2T>G rs1114167624
NM_000314.7(PTEN):c.1026+6T>A
NM_000314.7(PTEN):c.1026+9A>C rs1554825657
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.1027-4C>G rs587782788
NM_000314.7(PTEN):c.1027G>A (p.Val343Met) rs1060500120
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.1054G>C (p.Glu352Gln) rs1554826034
NM_000314.7(PTEN):c.1054_1056GAG[1] (p.Glu353del) rs878853931
NM_000314.7(PTEN):c.1058A>G (p.Glu353Gly) rs878853932
NM_000314.7(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.7(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.7(PTEN):c.1068T>A (p.Asn356Lys) rs1564570356
NM_000314.7(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.7(PTEN):c.1074G>C (p.Glu358Asp) rs876659464
NM_000314.7(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.7(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.7(PTEN):c.1079G>C (p.Ser360Thr) rs1060500127
NM_000314.7(PTEN):c.1087A>G (p.Thr363Ala) rs765416558
NM_000314.7(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.1096A>G (p.Thr366Ala) rs1564570409
NM_000314.7(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.7(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.7(PTEN):c.1115A>G (p.Asn372Ser) rs1370349057
NM_000314.7(PTEN):c.1123G>A (p.Asp375Asn) rs1564570429
NM_000314.7(PTEN):c.1124A>G (p.Asp375Gly)
NM_000314.7(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.7(PTEN):c.1132A>G (p.Arg378Gly) rs1554826055
NM_000314.7(PTEN):c.1160C>T (p.Pro387Leu) rs1564570452
NM_000314.7(PTEN):c.1171C>T (p.Pro391Ser) rs786203911
NM_000314.7(PTEN):c.1190A>G (p.His397Arg) rs876661021
NM_000314.7(PTEN):c.1198A>G (p.Ile400Val) rs863224665
NM_000314.7(PTEN):c.1204A>G (p.Lys402Glu) rs1554826064
NM_000314.7(PTEN):c.1206A>C (p.Lys402Asn) rs1064796017
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.127G>T (p.Glu43Ter) rs1554893808
NM_000314.7(PTEN):c.139A>G (p.Arg47Gly) rs786204855
NM_000314.7(PTEN):c.13A>G (p.Ile5Val) rs1060500109
NM_000314.7(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.7(PTEN):c.150T>G (p.Ile50Met) rs1564814601
NM_000314.7(PTEN):c.154G>A (p.Asp52Asn) rs1564814606
NM_000314.7(PTEN):c.159A>G (p.Val53=) rs189583426
NM_000314.7(PTEN):c.164+4A>G rs1554893837
NM_000314.7(PTEN):c.165-17_165del rs1554897240
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.16A>G (p.Lys6Glu)
NM_000314.7(PTEN):c.170T>A (p.Leu57Ter)
NM_000314.7(PTEN):c.172G>A (p.Asp58Asn) rs1554897255
NM_000314.7(PTEN):c.172G>T (p.Asp58Tyr) rs1554897255
NM_000314.7(PTEN):c.175T>C (p.Ser59Pro) rs1060500118
NM_000314.7(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.7(PTEN):c.184A>G (p.Lys62Glu) rs1564826779
NM_000314.7(PTEN):c.186A>C (p.Lys62Asn) rs1564826791
NM_000314.7(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.7(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.202T>G (p.Tyr68Asp) rs398123317
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.7(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.7(PTEN):c.204C>T (p.Tyr68=) rs773176120
NM_000314.7(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.7(PTEN):c.209+1G>T rs1554897280
NM_000314.7(PTEN):c.209+2T>A rs878853937
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.209+6T>G rs1554897282
NM_000314.7(PTEN):c.210-1G>A rs1114167621
NM_000314.7(PTEN):c.210-2A>G rs1564828914
NM_000314.7(PTEN):c.210-6_210-2del rs1564828909
NM_000314.7(PTEN):c.212G>T (p.Cys71Phe) rs1554897856
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.21G>C (p.Glu7Asp) rs1554890337
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+1G>T rs587776667
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.253+4G>A rs1060500112
NM_000314.7(PTEN):c.253+4_253+7del rs876659695
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.253+5G>T rs1554897889
NM_000314.7(PTEN):c.254-10T>C rs1554898047
NM_000314.7(PTEN):c.254-1G>A rs1057520208
NM_000314.7(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.7(PTEN):c.274G>T (p.Asp92Tyr) rs1554898067
NM_000314.7(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.7(PTEN):c.277C>T (p.His93Tyr)
NM_000314.7(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.7(PTEN):c.278A>C (p.His93Pro) rs121909238
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.289C>G (p.Gln97Glu) rs786204928
NM_000314.7(PTEN):c.289C>T (p.Gln97Ter) rs786204928
NM_000314.7(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
NM_000314.7(PTEN):c.299T>C (p.Leu100Pro)
NM_000314.7(PTEN):c.302T>A (p.Ile101Asn)
NM_000314.7(PTEN):c.308C>G (p.Pro103Arg) rs1060500111
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.7(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.7(PTEN):c.329A>G (p.Gln110Arg) rs1564830013
NM_000314.7(PTEN):c.332_333insT (p.Trp111fs)
NM_000314.7(PTEN):c.333G>C (p.Trp111Cys) rs1554898097
NM_000314.7(PTEN):c.349A>C (p.Asn117His) rs771310592
NM_000314.7(PTEN):c.350A>G (p.Asn117Ser) rs551221430
NM_000314.7(PTEN):c.352C>T (p.His118Tyr) rs1564830084
NM_000314.7(PTEN):c.353A>G (p.His118Arg) rs1554898107
NM_000314.7(PTEN):c.359C>T (p.Ala120Val)
NM_000314.7(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.7(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.7(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_000314.7(PTEN):c.37A>T (p.Lys13Ter) rs1554890348
NM_000314.7(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.7(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.7(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.7(PTEN):c.421C>G (p.His141Asp) rs1060500129
NM_000314.7(PTEN):c.421C>T (p.His141Tyr) rs1060500129
NM_000314.7(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.7(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.7(PTEN):c.425G>A (p.Arg142Gln) rs753630034
NM_000314.7(PTEN):c.437T>G (p.Leu146Ter) rs786204933
NM_000314.7(PTEN):c.440A>G (p.Lys147Arg) rs757087471
NM_000314.7(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.7(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.7(PTEN):c.449A>G (p.Glu150Gly) rs1554898193
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.455T>C (p.Leu152Pro) rs1554898197
NM_000314.7(PTEN):c.457G>A (p.Asp153Asn) rs9651492
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.465T>A (p.Tyr155Ter) rs1554898206
NM_000314.7(PTEN):c.466G>A (p.Gly156Arg) rs1554898209
NM_000314.7(PTEN):c.476G>A (p.Arg159Lys)
NM_000314.7(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.7(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.7(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.492+2del rs1060500124
NM_000314.7(PTEN):c.492+2dup rs1554898245
NM_000314.7(PTEN):c.492+3A>G rs1564830529
NM_000314.7(PTEN):c.492+7T>G rs373077590
NM_000314.7(PTEN):c.492G>A (p.Lys164=) rs146629065
NM_000314.7(PTEN):c.493-1G>A rs786204862
NM_000314.7(PTEN):c.493-2A>C rs587781784
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.493-6C>T rs1554900496
NM_000314.7(PTEN):c.493-9G>T rs1554900490
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.496G>C (p.Val166Leu)
NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.7(PTEN):c.503T>C (p.Ile168Thr) rs1554900530
NM_000314.7(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.7(PTEN):c.508A>G (p.Ser170Gly) rs1554900534
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.7(PTEN):c.512A>C (p.Gln171Pro) rs786204865
NM_000314.7(PTEN):c.517C>A (p.Arg173Ser) rs121913293
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.7(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.7(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.7(PTEN):c.527A>G (p.Tyr176Cys) rs757498880
NM_000314.7(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.7(PTEN):c.533A>G (p.Tyr178Cys) rs786204866
NM_000314.7(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.7(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.7(PTEN):c.569C>G (p.Pro190Arg) rs1554900617
NM_000314.7(PTEN):c.569C>T (p.Pro190Leu) rs1554900617
NM_000314.7(PTEN):c.571G>T (p.Val191Leu) rs1060500130
NM_000314.7(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.7(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.592A>G (p.Met198Val) rs1554900633
NM_000314.7(PTEN):c.593T>A (p.Met198Lys) rs1554900635
NM_000314.7(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.7(PTEN):c.596T>C (p.Met199Thr) rs587781538
NM_000314.7(PTEN):c.597_599del (p.Met199_Phe200delinsIle) rs1564837980
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.604A>G (p.Thr202Ala)
NM_000314.7(PTEN):c.607A>G (p.Ile203Val) rs1564837997
NM_000314.7(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.7(PTEN):c.610C>T (p.Pro204Ser) rs786204868
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.625G>A (p.Gly209Arg) rs765433422
NM_000314.7(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.7(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.7(PTEN):c.634+5G>A rs138336847
NM_000314.7(PTEN):c.635-1G>C rs876661024
NM_000314.7(PTEN):c.635-2A>G rs1564566706
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.635-7C>A rs1554825148
NM_000314.7(PTEN):c.646G>A (p.Val216Met)
NM_000314.7(PTEN):c.64G>T (p.Asp22Tyr) rs876660420
NM_000314.7(PTEN):c.650T>G (p.Val217Gly) rs1060500117
NM_000314.7(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.7(PTEN):c.664G>T (p.Val222Leu) rs878853943
NM_000314.7(PTEN):c.668A>G (p.Lys223Arg) rs778528056
NM_000314.7(PTEN):c.671T>C (p.Ile224Thr)
NM_000314.7(PTEN):c.672A>G (p.Ile224Met) rs786204946
NM_000314.7(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.7(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.7(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.7(PTEN):c.685_686dup (p.Gly230fs) rs1564566801
NM_000314.7(PTEN):c.692C>T (p.Pro231Leu) rs1554825190
NM_000314.7(PTEN):c.693del (p.Thr232fs) rs1554825189
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.7(PTEN):c.720C>G (p.Tyr240Ter) rs190070312
NM_000314.7(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.723_724dup (p.Glu242fs) rs1554825209
NM_000314.7(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.7(PTEN):c.72C>T (p.Asp24=) rs1320222638
NM_000314.7(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.738_739dup (p.Leu247fs)
NM_000314.7(PTEN):c.740T>A (p.Leu247Ter) rs1057519368
NM_000314.7(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.7(PTEN):c.744_745TG[3] (p.Cys250fs) rs780264945
NM_000314.7(PTEN):c.752G>C (p.Gly251Ala) rs1554825226
NM_000314.7(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.7(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.7(PTEN):c.755_756AT[3] (p.Lys254fs) rs878853942
NM_000314.7(PTEN):c.758T>A (p.Ile253Asn) rs1554825235
NM_000314.7(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.7(PTEN):c.779A>G (p.Lys260Arg) rs1060500125
NM_000314.7(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.7(PTEN):c.783G>T (p.Gln261His) rs760146269
NM_000314.7(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.79+5C>G rs1564801891
NM_000314.7(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000314.7(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.7(PTEN):c.796A>T (p.Lys266Ter)
NM_000314.7(PTEN):c.80-7T>G rs1554893742
NM_000314.7(PTEN):c.800A>G (p.Lys267Arg) rs1554825264
NM_000314.7(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.7(PTEN):c.801+7A>T rs1211730867
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.802-2dup rs1554825500
NM_000314.7(PTEN):c.802-3T>A rs587780712
NM_000314.7(PTEN):c.802-3del rs34003473
NM_000314.7(PTEN):c.802-4_804delinsA rs1064792911
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.7(PTEN):c.820T>C (p.Trp274Arg)
NM_000314.7(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.7(PTEN):c.823G>A (p.Val275Ile) rs1410198544
NM_000314.7(PTEN):c.823_824del (p.Val275fs)
NM_000314.7(PTEN):c.826A>G (p.Asn276Asp)
NM_000314.7(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.7(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.7(PTEN):c.829A>G (p.Thr277Ala) rs1564568216
NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.7(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.7(PTEN):c.840_841del (p.Pro281fs)
NM_000314.7(PTEN):c.841C>G (p.Pro281Ala) rs750705904
NM_000314.7(PTEN):c.841C>T (p.Pro281Ser) rs750705904
NM_000314.7(PTEN):c.845del (p.Gly282fs) rs864622451
NM_000314.7(PTEN):c.853G>A (p.Glu285Lys) rs1564568265
NM_000314.7(PTEN):c.859T>C (p.Ser287Pro) rs1554825526
NM_000314.7(PTEN):c.863_865delinsCT (p.Glu288fs)
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.872A>G (p.Glu291Gly) rs1564568318
NM_000314.7(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.7(PTEN):c.87T>A (p.Tyr29Ter) rs1554893756
NM_000314.7(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121
NM_000314.7(PTEN):c.889G>C (p.Asp297His) rs370064195
NM_000314.7(PTEN):c.889G>T (p.Asp297Tyr) rs370064195
NM_000314.7(PTEN):c.892C>A (p.Gln298Lys) rs371387815
NM_000314.7(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.7(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.7(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.7(PTEN):c.901G>A (p.Asp301Asn) rs758644748
NM_000314.7(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.7(PTEN):c.907A>G (p.Ile303Val) rs1114167660
NM_000314.7(PTEN):c.908T>G (p.Ile303Ser) rs772018727
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.916A>G (p.Ile306Val) rs786203858
NM_000314.7(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.7(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.7(PTEN):c.923G>A (p.Arg308His) rs786201507
NM_000314.7(PTEN):c.928_929insTT (p.Asp310fs) rs786204906
NM_000314.7(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.7(PTEN):c.934G>A (p.Asp312Asn) rs878853946
NM_000314.7(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000314.7(PTEN):c.937A>C (p.Lys313Gln)
NM_000314.7(PTEN):c.93C>A (p.Asn31Lys) rs1170214930
NM_000314.7(PTEN):c.941A>C (p.Glu314Ala) rs1171478249
NM_000314.7(PTEN):c.945T>G (p.Tyr315Ter) rs876661058
NM_000314.7(PTEN):c.946C>A (p.Leu316Ile) rs1554825577
NM_000314.7(PTEN):c.949G>A (p.Val317Ile) rs876658630
NM_000314.7(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) rs146650273
NM_000314.7(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.7(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.7(PTEN):c.956_960del (p.Thr319fs)
NM_000314.7(PTEN):c.959T>A (p.Leu320Ter) rs1114167667
NM_000314.7(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.7(PTEN):c.968A>C (p.Asn323Thr)
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.987_996dup (p.Ala333Ter) rs864622387
NM_000314.7(PTEN):c.98T>C (p.Ile33Thr) rs1554893771
NM_000314.7(PTEN):c.991_992del (p.Asp331fs) rs1554825611
NM_000314.7(PTEN):c.996dup (p.Ala333fs) rs1554825615
NM_000314.7(PTEN):c.999_1016del (p.Arg335_Asn340del)
NM_000314.8(PTEN):c.228dup (p.Asp77Ter)
NM_000314.8(PTEN):c.359dup (p.Ala121fs)
NM_000314.8(PTEN):c.645dup (p.Val216fs)
NM_000314.8(PTEN):c.69dup (p.Asp24fs)
NM_000314.8(PTEN):c.829dup (p.Thr277fs)
NM_000314.8(PTEN):c.968del (p.Asn323fs)
NM_001126049.1(KLLN):c.-840G>A rs563841270
NM_001126049.1(KLLN):c.-897A>G rs869312983
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001304717.5(PTEN):c.1012+1_1012+5del rs1554898238
NM_001304717.5(PTEN):c.1012+1del rs1564830522
NM_001304717.5(PTEN):c.1321+1del rs1060500110
NM_001304717.5(PTEN):c.729+1_729+2del rs1564826836
NM_001304717.5(PTEN):c.773+1dup rs876660082
NM_001304718.2(PTEN):c.-260del rs786204900
NM_001304718.2(PTEN):c.-261_-260del rs786204900
NM_001304718.2(PTEN):c.-265_-264del rs1554898231
NM_001304718.2(PTEN):c.-266_-264delinsCC rs1554898231
NM_001304718.2(PTEN):c.-282dup
NM_001304718.2(PTEN):c.-304del rs1554898188
NM_001304718.2(PTEN):c.-335del rs1554898163
NM_001304718.2(PTEN):c.-342_-340delinsTTT rs878853938
NM_001304718.2(PTEN):c.-352_-348del rs1554898150
NM_001304718.2(PTEN):c.-365del rs1554898139
NM_001304718.2(PTEN):c.-401_-398del rs1564830070
NM_001304718.2(PTEN):c.-404_-400del rs587776666
NM_001304718.2(PTEN):c.-405_-393dup rs1064792910
NM_001304718.2(PTEN):c.-436dup rs1554898091
NM_001304718.2(PTEN):c.-44_-41del rs1564837868
NM_001304718.2(PTEN):c.-450dup rs1554898084
NM_001304718.2(PTEN):c.-47dup rs878853941
NM_001304718.2(PTEN):c.-52_-51delinsGT rs1554900587
NM_001304718.2(PTEN):c.-541-5498dup rs1060500113
NM_001304718.2(PTEN):c.-541-5510del rs1554897267
NM_001304718.2(PTEN):c.-554_-552ATG[1]
NM_001304718.2(PTEN):c.-574dup rs878853933
NM_001304718.2(PTEN):c.-575dup rs1564814541
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001304718.2(PTEN):c.-614del rs1564814427
NM_001304718.2(PTEN):c.-637_-635dup
NM_001304718.2(PTEN):c.-638del rs1554890400
NM_001304718.2(PTEN):c.-653del rs878853940
NM_001304718.2(PTEN):c.-656_-655del rs587781912
NM_001304718.2(PTEN):c.-66_-64TAT[2] rs587780711
NM_001304718.2(PTEN):c.-676_-674del rs1114167649
NM_001304718.2(PTEN):c.-67del rs1554900566
NM_001304718.2(PTEN):c.-689_-688del rs121913290
NM_001304718.2(PTEN):c.-80_-79AG[1] rs1564837778
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg) rs759143732
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro) rs199901239
NM_003002.4(SDHD):c.114A>G (p.Arg38=) rs1555186794
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu) rs752689382
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.4(SDHD):c.118A>G (p.Ile40Val) rs146276662
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala) rs764006625
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr) rs1566692479
NM_003002.4(SDHD):c.136G>A (p.Val46Met) rs886047699
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg) rs778202647
NM_003002.4(SDHD):c.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.4(SDHD):c.141G>A (p.Gln47=) rs1217254088
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr) rs1555186808
NM_003002.4(SDHD):c.147A>G (p.Ile49Met) rs1566692534
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) rs587782210
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118
NM_003002.4(SDHD):c.159G>A (p.Pro53=) rs201368675
NM_003002.4(SDHD):c.167A>C (p.His56Pro) rs1555186817
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly) rs11547889
NM_003002.4(SDHD):c.170-10C>T rs952278127
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser) rs200895313
NM_003002.4(SDHD):c.194A>G (p.His65Arg) rs780226013
NM_003002.4(SDHD):c.199_201delinsGCC (p.Thr67Ala) rs1555186981
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.1A>T (p.Met1Leu) rs104894307
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.211G>A (p.Val71Ile) rs1428042303
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly) rs748545223
NM_003002.4(SDHD):c.21G>A (p.Leu7=) rs974401612
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro) rs745559875
NM_003002.4(SDHD):c.248C>T (p.Ala83Val) rs370165653
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu) rs1555187033
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772
NM_003002.4(SDHD):c.27C>A (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
NM_003002.4(SDHD):c.288_290del (p.Ala98del) rs1566694825
NM_003002.4(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.4(SDHD):c.290C>T (p.Ala97Val) rs756533450
NM_003002.4(SDHD):c.293C>T (p.Ala98Val) rs200980609
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala) rs1555187065
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.314+3A>C rs1555187084
NM_003002.4(SDHD):c.314+4A>G
NM_003002.4(SDHD):c.314+5G>A rs1566695035
NM_003002.4(SDHD):c.314+6T>C rs1555187085
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.315-3T>C rs1555187565
NM_003002.4(SDHD):c.315-3del rs1566702297
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.327A>G (p.Gln109=) rs1566702383
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.351G>T (p.Gly117=) rs1566702512
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp) rs758784300
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) rs764384503
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn) rs878854595
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr) rs940936212
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser) rs940936212
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser) rs201726097
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro) rs1312671864
NM_003002.4(SDHD):c.38C>T (p.Ala13Val) rs750080041
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr) rs1060503774
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro) rs1060503774
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) rs755584530
NM_003002.4(SDHD):c.3G>A (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392
NM_003002.4(SDHD):c.405C>A (p.Thr135=) rs1555187606
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro) rs1555187611
NM_003002.4(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg) rs80338847
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248
NM_003002.4(SDHD):c.433C>A (p.His145Asn) rs121908984
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn) rs761953172
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
NM_003002.4(SDHD):c.458T>C (p.Val153Ala) rs1555187644
NM_003002.4(SDHD):c.464T>A (p.Met155Lys) rs1060503776
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg) rs1555186687
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys) rs1555186687
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=) rs878854596
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg) rs1555187655
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)
NM_003002.4(SDHD):c.51A>C (p.Arg17=) rs199890548
NM_003002.4(SDHD):c.52+2T>C
NM_003002.4(SDHD):c.52+5G>C
NM_003002.4(SDHD):c.52+6G>A rs1416678757
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_003002.4(SDHD):c.53-6C>T rs757454290
NM_003002.4(SDHD):c.53-9_53-6del
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly) rs1440670464
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.73G>T (p.Val25Leu) rs878854597
NM_003002.4(SDHD):c.7G>T (p.Val3Phe) rs1555186656
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr) rs541477171
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala) rs541477171
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864
NM_003002.4(SDHD):c.86C>T (p.Ala29Val) rs1555186774
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003002.4(SDHD):c.9T>A (p.Val3=) rs1555186657
NM_005163.2(AKT1):c.106A>G (p.Ile36Val) rs781339141
NM_005163.2(AKT1):c.107T>C (p.Ile36Thr) rs758157217
NM_005163.2(AKT1):c.1099C>A (p.Arg367Ser) rs762705090
NM_005163.2(AKT1):c.1099C>T (p.Arg367Cys)
NM_005163.2(AKT1):c.10G>A (p.Val4Met) rs754031503
NM_005163.2(AKT1):c.1109G>A (p.Arg370His) rs746272761
NM_005163.2(AKT1):c.1112C>A (p.Thr371Lys)
NM_005163.2(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_005163.2(AKT1):c.117G>A (p.Lys39=)
NM_005163.2(AKT1):c.1191G>T (p.Glu397Asp) rs1334042967
NM_005163.2(AKT1):c.1195G>A (p.Ala399Thr)
NM_005163.2(AKT1):c.1198A>G (p.Lys400Glu)
NM_005163.2(AKT1):c.1228G>A (p.Gly410Ser) rs146483593
NM_005163.2(AKT1):c.1242G>C (p.Gln414His) rs1555383354
NM_005163.2(AKT1):c.1251C>T (p.Tyr417=) rs139297659
NM_005163.2(AKT1):c.1260+4C>T rs765999603
NM_005163.2(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_005163.2(AKT1):c.1293G>A (p.Ser431=) rs750104452
NM_005163.2(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_005163.2(AKT1):c.1361A>G (p.Gln454Arg) rs759702315
NM_005163.2(AKT1):c.1373T>C (p.Met458Thr) rs587778018
NM_005163.2(AKT1):c.1394G>A (p.Arg465His) rs113547523
NM_005163.2(AKT1):c.142C>T (p.Arg48Cys) rs374093099
NM_005163.2(AKT1):c.1432G>A (p.Gly478Ser) rs1205616929
NM_005163.2(AKT1):c.143G>A (p.Arg48His) rs774836044
NM_005163.2(AKT1):c.174G>A (p.Ala58=) rs560243859
NM_005163.2(AKT1):c.175+5G>A
NM_005163.2(AKT1):c.176-3C>G
NM_005163.2(AKT1):c.176-5C>T rs377076374
NM_005163.2(AKT1):c.176-8G>A rs1060504818
NM_005163.2(AKT1):c.206G>A (p.Arg69Gln) rs183989506
NM_005163.2(AKT1):c.227G>A (p.Arg76His) rs771065764
NM_005163.2(AKT1):c.287+4C>T rs745831501
NM_005163.2(AKT1):c.287+5G>A rs373853807
NM_005163.2(AKT1):c.288-3C>T rs61761189
NM_005163.2(AKT1):c.362G>A (p.Arg121Gln)
NM_005163.2(AKT1):c.430C>T (p.Arg144Cys) rs375990114
NM_005163.2(AKT1):c.431G>A (p.Arg144His) rs1060503071
NM_005163.2(AKT1):c.436-3T>C rs368553273
NM_005163.2(AKT1):c.440T>C (p.Met147Thr) rs758456890
NM_005163.2(AKT1):c.457C>T (p.Leu153=) rs149803079
NM_005163.2(AKT1):c.46+10C>G rs372014221
NM_005163.2(AKT1):c.46+10C>T rs372014221
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005163.2(AKT1):c.4A>G (p.Ser2Gly) rs1566826869
NM_005163.2(AKT1):c.512C>T (p.Ala171Val)
NM_005163.2(AKT1):c.520C>T (p.Arg174Cys) rs983007851
NM_005163.2(AKT1):c.528C>T (p.Tyr176=) rs1422460834
NM_005163.2(AKT1):c.545A>G (p.Lys182Arg) rs1555383695
NM_005163.2(AKT1):c.567+8C>T rs752874396
NM_005163.2(AKT1):c.604C>T (p.Leu202=) rs2230506
NM_005163.2(AKT1):c.692A>G (p.Asn231Ser)
NM_005163.2(AKT1):c.693C>T (p.Asn231=) rs767346459
NM_005163.2(AKT1):c.705G>A (p.Leu235=) rs769090254
NM_005163.2(AKT1):c.721C>T (p.Arg241Trp) rs768606668
NM_005163.2(AKT1):c.745C>T (p.Arg249Trp)
NM_005163.2(AKT1):c.751C>T (p.Arg251Cys) rs780571834
NM_005163.2(AKT1):c.763G>A (p.Ala255Thr) rs375395037
NM_005163.2(AKT1):c.770T>C (p.Ile257Thr) rs1555383511
NM_005163.2(AKT1):c.797C>T (p.Ser266Leu)
NM_005163.2(AKT1):c.798G>A (p.Ser266=) rs367635775
NM_005163.2(AKT1):c.7G>A (p.Asp3Asn) rs140532443
NM_005163.2(AKT1):c.81C>T (p.Phe27=) rs749781543
NM_005163.2(AKT1):c.822C>T (p.Asp274=) rs1555383496
NM_005163.2(AKT1):c.828+10C>T rs370490407
NM_005163.2(AKT1):c.828+4C>T rs3730330
NM_005163.2(AKT1):c.828+5G>A rs1199214347
NM_005163.2(AKT1):c.828+5G>C
NM_005163.2(AKT1):c.828+7del rs1555383494
NM_005163.2(AKT1):c.829-4C>T
NM_005163.2(AKT1):c.907G>A (p.Gly303Ser)
NM_005163.2(AKT1):c.917T>C (p.Met306Thr) rs1555383471
NM_006218.4(PIK3CA):c.*29T>C rs141178472
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro) rs200951754
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr)
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu)
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly) rs1060500027
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser) rs753879573
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln) rs1553820355
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr) rs1560144842
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr)
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly) rs1060500028
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys)
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys) rs1060500029
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser) rs200404201
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) rs201269904
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly) rs1560137176
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.2294+5T>C
NM_006218.4(PIK3CA):c.2361_2363CAT[1] (p.Ile788del)
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) rs1060500030
NM_006218.4(PIK3CA):c.2416+6G>A rs759918867
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His) rs371049193
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser) rs1560148927
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala)
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750
NM_006218.4(PIK3CA):c.2666+3G>A
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val) rs1553825421
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=) rs769962451
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=) rs1282232507
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys)
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=) rs369770518
NM_006218.4(PIK3CA):c.2937-3T>C
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln) rs1560150481
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys)
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.3194A>T (p.His1065Leu) rs1560150596
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del) rs1553820399
NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp) rs1060500031
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750
NM_006218.4(PIK3CA):c.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val) rs371727887
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe) rs201705993
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser) rs200001957
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu) rs200762923
NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu)
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.563-3T>C rs200507422
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser) rs372610277
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) rs1553820694
NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr) rs1060500032
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val) rs765030404
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs)
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val) rs201238717
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr)
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile) rs199605762
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031
NM_006363.6(SEC23B):c.1233+4C>T
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.1665+6T>C rs371786580
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
NM_021930.6(RINT1):c.1447A>G (p.Met483Val) rs869312982
NM_021930.6(RINT1):c.1671_1671+2del rs869312981
Single allele

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