ClinVar Miner

List of variants in gene PTEN reported as likely benign for Cowden disease

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.*1745G>A rs116248217 0.00644
NM_000314.8(PTEN):c.254-34T>G rs34047313 0.00200
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu) rs398123328 0.00068
NM_000314.8(PTEN):c.*421T>C rs141648241 0.00051
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.254-39G>T rs35034871 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.802-54_802-16del rs1028746954 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.*601A>G rs371547288 0.00008
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.612A>G (p.Pro204=) rs539074063 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000314.8(PTEN):c.79+16G>C rs768604051 0.00003
NM_000314.8(PTEN):c.801+18A>T rs777679092 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.-280C>T rs571072832 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.1086A>G (p.Ser362=) rs761948873 0.00002
NM_000314.8(PTEN):c.209+10T>C rs770451470 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=) rs786201816 0.00001
NM_000314.8(PTEN):c.1027-8T>C rs776676859 0.00001
NM_000314.8(PTEN):c.1050A>G (p.Thr350=) rs769324650 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.1203A>G (p.Thr401=) rs876659102 0.00001
NM_000314.8(PTEN):c.1209C>G (p.Val403=) rs1860740348 0.00001
NM_000314.8(PTEN):c.164+12T>C rs1057521654 0.00001
NM_000314.8(PTEN):c.165-9T>G rs878853934 0.00001
NM_000314.8(PTEN):c.204C>T (p.Tyr68=) rs773176120 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-17T>G rs750987148 0.00001
NM_000314.8(PTEN):c.210-26A>G rs776849737 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.253+14T>A rs1057520635 0.00001
NM_000314.8(PTEN):c.253+4G>A rs1060500112 0.00001
NM_000314.8(PTEN):c.254-17T>G rs1057520819 0.00001
NM_000314.8(PTEN):c.258A>G (p.Ala86=) rs587780710 0.00001
NM_000314.8(PTEN):c.288A>G (p.Pro96=) rs746661067 0.00001
NM_000314.8(PTEN):c.294A>G (p.Leu98=) rs770224289 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.441G>A (p.Lys147=) rs1564830394 0.00001
NM_000314.8(PTEN):c.480C>T (p.Thr160=) rs746574957 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 0.00001
NM_000314.8(PTEN):c.492+15G>T rs1380149618 0.00001
NM_000314.8(PTEN):c.492+31T>C rs1320105617 0.00001
NM_000314.8(PTEN):c.606T>C (p.Thr202=) rs1242879806 0.00001
NM_000314.8(PTEN):c.624C>T (p.Gly208=) rs370162160 0.00001
NM_000314.8(PTEN):c.635-14A>G rs758742080 0.00001
NM_000314.8(PTEN):c.635-8C>A rs780495238 0.00001
NM_000314.8(PTEN):c.693C>T (p.Pro231=) rs1064795327 0.00001
NM_000314.8(PTEN):c.711G>A (p.Lys237=) rs773353820 0.00001
NM_000314.8(PTEN):c.723T>C (p.Phe241=) rs17849090 0.00001
NM_000314.8(PTEN):c.72C>T (p.Asp24=) rs1320222638 0.00001
NM_000314.8(PTEN):c.732T>C (p.Pro244=) rs1425663292 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.750T>C (p.Cys250=) rs767623493 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.79+15G>T rs1269898602 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.80-11A>G rs776590293 0.00001
NM_000314.8(PTEN):c.80-14A>T rs768354874 0.00001
NM_000314.8(PTEN):c.801+14T>C rs1459692246 0.00001
NM_000314.8(PTEN):c.801+19T>C rs780407190 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000314.8(PTEN):c.802-17T>C rs1057520419 0.00001
NM_000314.8(PTEN):c.802-4T>C rs753469080 0.00001
NM_000314.8(PTEN):c.858C>G (p.Thr286=) rs876660443 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.93C>T (p.Asn31=) rs1170214930 0.00001
NM_000314.8(PTEN):c.948A>G (p.Leu316=) rs775997892 0.00001
NM_000314.8(PTEN):c.981A>G (p.Lys327=) rs772872626 0.00001
NM_000314.8(PTEN):c.*1131del rs547262170
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.*666dup rs543873570
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.1005A>G (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1005A>T (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.8(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.8(PTEN):c.1026+10A>G rs767777911
NM_000314.8(PTEN):c.1026+11_1026+15del rs1564568719
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.1026+7T>A rs1589666333
NM_000314.8(PTEN):c.1026+9A>C rs1554825657
NM_000314.8(PTEN):c.1027-12T>G rs1057521732
NM_000314.8(PTEN):c.1027-14T>C
NM_000314.8(PTEN):c.1027-17A>T rs1057520355
NM_000314.8(PTEN):c.1027-19T>C
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1027-6C>A rs1374474745
NM_000314.8(PTEN):c.1027-6C>T rs1374474745
NM_000314.8(PTEN):c.1027-7T>C rs2132289086
NM_000314.8(PTEN):c.1027-8_1027-5del
NM_000314.8(PTEN):c.1027-9T>C rs1156734821
NM_000314.8(PTEN):c.1029G>A (p.Val343=) rs1393550059
NM_000314.8(PTEN):c.102T>A (p.Ala34=) rs1472278114
NM_000314.8(PTEN):c.1038C>T (p.Tyr346=) rs2132289237
NM_000314.8(PTEN):c.1041C>T (p.Phe347=) rs1554826029
NM_000314.8(PTEN):c.1044A>G (p.Thr348=) rs747606399
NM_000314.8(PTEN):c.1071A>G (p.Pro357=)
NM_000314.8(PTEN):c.1074G>A (p.Glu358=) rs876659464
NM_000314.8(PTEN):c.1089T>C (p.Thr363=) rs864622690
NM_000314.8(PTEN):c.108A>G (p.Gly36=) rs985009599
NM_000314.8(PTEN):c.1092T>C (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.1101A>G (p.Pro367=) rs2132289693
NM_000314.8(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.8(PTEN):c.1116T>C (p.Asn372=) rs1060503845
NM_000314.8(PTEN):c.1119A>G (p.Glu373=)
NM_000314.8(PTEN):c.1131T>C (p.Tyr377=) rs1345063638
NM_000314.8(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.8(PTEN):c.1137T>C (p.Tyr379=) rs1295420243
NM_000314.8(PTEN):c.1143C>T (p.Asp381=) rs2132290018
NM_000314.8(PTEN):c.1152C>T (p.Asp384=) rs2132290073
NM_000314.8(PTEN):c.1155T>C (p.Ser385=) rs1860738182
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1170A>G (p.Glu390=) rs1057524010
NM_000314.8(PTEN):c.1173T>C (p.Pro391=)
NM_000314.8(PTEN):c.117A>C (p.Ala39=) rs1223327870
NM_000314.8(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.8(PTEN):c.1200T>A (p.Ile400=)
NM_000314.8(PTEN):c.129A>G (p.Glu43=) rs1453337737
NM_000314.8(PTEN):c.12C>T (p.Ile4=) rs2132145422
NM_000314.8(PTEN):c.132C>A (p.Gly44=) rs150651961
NM_000314.8(PTEN):c.135A>G (p.Val45=) rs959491852
NM_000314.8(PTEN):c.144C>T (p.Asn48=) rs762518389
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
NM_000314.8(PTEN):c.156T>C (p.Asp52=) rs1589617385
NM_000314.8(PTEN):c.15C>T (p.Ile5=)
NM_000314.8(PTEN):c.162A>G (p.Val54=)
NM_000314.8(PTEN):c.164+10C>T rs1859100909
NM_000314.8(PTEN):c.164+20C>G rs2132187978
NM_000314.8(PTEN):c.164+9G>T
NM_000314.8(PTEN):c.165-11T>A
NM_000314.8(PTEN):c.165-14dup rs2132232028
NM_000314.8(PTEN):c.165-17G>A
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-17G>T rs898943632
NM_000314.8(PTEN):c.165-20T>C rs1859801133
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-5T>G
NM_000314.8(PTEN):c.165-7T>C rs572375431
NM_000314.8(PTEN):c.165-8G>A rs2132232059
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.177A>G (p.Ser59=) rs878853935
NM_000314.8(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.8(PTEN):c.189C>T (p.Asn63=) rs2132232254
NM_000314.8(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.8(PTEN):c.195C>T (p.Tyr65=) rs878853936
NM_000314.8(PTEN):c.201A>T (p.Ile67=) rs2132232357
NM_000314.8(PTEN):c.207T>C (p.Asn69=)
NM_000314.8(PTEN):c.209+12T>G
NM_000314.8(PTEN):c.209+15T>A
NM_000314.8(PTEN):c.209+15T>G
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.209+7A>G rs1554897284
NM_000314.8(PTEN):c.209+9G>A
NM_000314.8(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.8(PTEN):c.210-10T>C rs2132238629
NM_000314.8(PTEN):c.210-11T>A
NM_000314.8(PTEN):c.210-12C>A rs766570103
NM_000314.8(PTEN):c.210-13A>G rs2132238614
NM_000314.8(PTEN):c.210-17T>A rs750987148
NM_000314.8(PTEN):c.210-26A>T rs776849737
NM_000314.8(PTEN):c.210-3dup rs1064794464
NM_000314.8(PTEN):c.210-4T>C rs1589644668
NM_000314.8(PTEN):c.210-5T>C rs863224358
NM_000314.8(PTEN):c.210-6T>C rs1057521210
NM_000314.8(PTEN):c.210-7C>A
NM_000314.8(PTEN):c.210-7C>G
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-7_210-4del
NM_000314.8(PTEN):c.210-8T>C rs2132238637
NM_000314.8(PTEN):c.210-8T>G
NM_000314.8(PTEN):c.210-8dup
NM_000314.8(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.231C>T (p.Asp77=) rs755953294
NM_000314.8(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.234C>G (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.237C>G (p.Ala79=)
NM_000314.8(PTEN):c.237C>T (p.Ala79=)
NM_000314.8(PTEN):c.243T>C (p.Phe81=) rs2132238960
NM_000314.8(PTEN):c.246T>C (p.Asn82=) rs2132238982
NM_000314.8(PTEN):c.253+11A>C
NM_000314.8(PTEN):c.253+11A>T
NM_000314.8(PTEN):c.253+17T>G rs2132239104
NM_000314.8(PTEN):c.253+18G>A
NM_000314.8(PTEN):c.253+20_253+24dup
NM_000314.8(PTEN):c.253+20_253+25del
NM_000314.8(PTEN):c.253+20_253+26del rs1554897894
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.253+7A>G rs2132239067
NM_000314.8(PTEN):c.253+9G>A
NM_000314.8(PTEN):c.254-10T>C rs1554898047
NM_000314.8(PTEN):c.254-11T>C rs2132241916
NM_000314.8(PTEN):c.254-12T>G rs2132241908
NM_000314.8(PTEN):c.254-15A>G
NM_000314.8(PTEN):c.254-20A>C
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.254-40A>G rs767049245
NM_000314.8(PTEN):c.254-4A>G
NM_000314.8(PTEN):c.254-5C>T rs1589645935
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.254-7A>G rs2132241925
NM_000314.8(PTEN):c.254-7dup rs1060503846
NM_000314.8(PTEN):c.264T>C (p.Tyr88=) rs1554898056
NM_000314.8(PTEN):c.273A>G (p.Glu91=) rs1589646019
NM_000314.8(PTEN):c.279T>C (p.His93=) rs145695240
NM_000314.8(PTEN):c.282C>T (p.Asn94=) rs1589646058
NM_000314.8(PTEN):c.291G>A (p.Gln97=) rs1564829889
NM_000314.8(PTEN):c.303C>T (p.Ile101=) rs1859968521
NM_000314.8(PTEN):c.309C>G (p.Pro103=) rs2132242458
NM_000314.8(PTEN):c.30C>T (p.Ser10=)
NM_000314.8(PTEN):c.31A>C (p.Arg11=) rs1858395868
NM_000314.8(PTEN):c.327C>T (p.Asp109=)
NM_000314.8(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.8(PTEN):c.342A>G (p.Glu114=) rs1589646244
NM_000314.8(PTEN):c.348C>T (p.Asp116=) rs1114167651
NM_000314.8(PTEN):c.351T>C (p.Asn117=) rs2132242870
NM_000314.8(PTEN):c.354T>C (p.His118=) rs1564830090
NM_000314.8(PTEN):c.357T>G (p.Val119=) rs1554898115
NM_000314.8(PTEN):c.360A>G (p.Ala120=) rs759485888
NM_000314.8(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.381A>C (p.Gly127=) rs1357327961
NM_000314.8(PTEN):c.384G>A (p.Lys128=) rs1114167645
NM_000314.8(PTEN):c.387A>G (p.Gly129=) rs2132243217
NM_000314.8(PTEN):c.390A>T (p.Arg130=) rs963598711
NM_000314.8(PTEN):c.396T>C (p.Gly132=) rs1564830257
NM_000314.8(PTEN):c.39A>G (p.Lys13=) rs2132145687
NM_000314.8(PTEN):c.408T>C (p.Cys136=) rs869312776
NM_000314.8(PTEN):c.414T>C (p.Tyr138=)
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.420A>G (p.Leu140=) rs2132243531
NM_000314.8(PTEN):c.423T>C (p.His141=) rs1459569607
NM_000314.8(PTEN):c.426G>A (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.426G>C (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.429C>T (p.Gly143=) rs1589646539
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.8(PTEN):c.432A>G (p.Lys144=) rs2132243670
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
NM_000314.8(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.444A>T (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.447A>G (p.Gln149=) rs750401982
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.453C>T (p.Ala151=) rs2132243850
NM_000314.8(PTEN):c.454C>T (p.Leu152=) rs1064795450
NM_000314.8(PTEN):c.456A>C (p.Leu152=) rs779626613
NM_000314.8(PTEN):c.45A>G (p.Arg15=) rs1064794096
NM_000314.8(PTEN):c.468G>A (p.Gly156=)
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
NM_000314.8(PTEN):c.483A>G (p.Arg161=) rs2132244098
NM_000314.8(PTEN):c.492+14T>A rs1057523132
NM_000314.8(PTEN):c.492+14T>C rs1057523132
NM_000314.8(PTEN):c.492+7T>C rs373077590
NM_000314.8(PTEN):c.492+7T>G rs373077590
NM_000314.8(PTEN):c.492+8A>G rs1859985473
NM_000314.8(PTEN):c.492+9T>A rs2132244235
NM_000314.8(PTEN):c.492+9T>C rs2132244235
NM_000314.8(PTEN):c.493-10T>G
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.493-13T>C rs1554900488
NM_000314.8(PTEN):c.493-14T>C rs1564837710
NM_000314.8(PTEN):c.493-15T>C
NM_000314.8(PTEN):c.493-18T>C
NM_000314.8(PTEN):c.493-19T>C rs1554900486
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.493-4C>T rs1057522555
NM_000314.8(PTEN):c.493-6C>T rs1554900496
NM_000314.8(PTEN):c.493-7C>G
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.493-8T>C
NM_000314.8(PTEN):c.493-9G>A rs1554900490
NM_000314.8(PTEN):c.493-9G>T rs1554900490
NM_000314.8(PTEN):c.501T>C (p.Thr167=) rs2132268947
NM_000314.8(PTEN):c.504T>A (p.Ile168=) rs1589659338
NM_000314.8(PTEN):c.513G>A (p.Gln171=) rs1554900546
NM_000314.8(PTEN):c.516G>A (p.Arg172=)
NM_000314.8(PTEN):c.519C>T (p.Arg173=)
NM_000314.8(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.8(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.8(PTEN):c.525G>T (p.Val175=)
NM_000314.8(PTEN):c.528T>C (p.Tyr176=) rs1057522285
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
NM_000314.8(PTEN):c.543G>C (p.Leu181=) rs1589659495
NM_000314.8(PTEN):c.549G>A (p.Lys183=)
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.555T>C (p.His185=) rs757799618
NM_000314.8(PTEN):c.556C>T (p.Leu186=) rs1589659546
NM_000314.8(PTEN):c.564T>C (p.Tyr188=) rs606231170
NM_000314.8(PTEN):c.567A>G (p.Arg189=) rs1589659570
NM_000314.8(PTEN):c.573G>A (p.Val191=) rs374478092
NM_000314.8(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.8(PTEN):c.57T>C (p.Asp19=) rs540063602
NM_000314.8(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.8(PTEN):c.588C>T (p.His196=) rs1860423218
NM_000314.8(PTEN):c.60A>G (p.Gly20=)
NM_000314.8(PTEN):c.612A>C (p.Pro204=) rs539074063
NM_000314.8(PTEN):c.630T>A (p.Thr210=)
NM_000314.8(PTEN):c.634+11G>C
NM_000314.8(PTEN):c.634+13A>T rs2132270168
NM_000314.8(PTEN):c.634+14A>T rs762694325
NM_000314.8(PTEN):c.634+14del rs2132270165
NM_000314.8(PTEN):c.634+18T>G
NM_000314.8(PTEN):c.634+19C>T rs766397244
NM_000314.8(PTEN):c.634+20A>G rs2132270192
NM_000314.8(PTEN):c.634+7G>C rs1860427142
NM_000314.8(PTEN):c.634+9T>C rs1589659798
NM_000314.8(PTEN):c.635-10A>G rs1430432370
NM_000314.8(PTEN):c.635-11T>G rs2132276315
NM_000314.8(PTEN):c.635-18A>G rs1057520441
NM_000314.8(PTEN):c.635-20G>A rs1317974446
NM_000314.8(PTEN):c.635-20G>T
NM_000314.8(PTEN):c.635-4G>A
NM_000314.8(PTEN):c.635-5T>C
NM_000314.8(PTEN):c.635-6A>G rs1009588340
NM_000314.8(PTEN):c.635-7C>A rs1554825148
NM_000314.8(PTEN):c.635-7C>T rs1554825148
NM_000314.8(PTEN):c.636T>C (p.Asn212=) rs2132276380
NM_000314.8(PTEN):c.63C>T (p.Phe21=) rs1858399493
NM_000314.8(PTEN):c.642G>A (p.Gln214=) rs1589663143
NM_000314.8(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.8(PTEN):c.658C>T (p.Leu220=)
NM_000314.8(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.678C>G (p.Ser226=) rs1589663262
NM_000314.8(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.8(PTEN):c.684T>C (p.Asn228=) rs2132276789
NM_000314.8(PTEN):c.687A>G (p.Ser229=) rs1554825185
NM_000314.8(PTEN):c.693C>A (p.Pro231=)
NM_000314.8(PTEN):c.697C>A (p.Arg233=) rs121909219
NM_000314.8(PTEN):c.699A>G (p.Arg233=) rs1589663321
NM_000314.8(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.8(PTEN):c.6A>G (p.Thr2=)
NM_000314.8(PTEN):c.708C>T (p.Asp236=) rs1183182915
NM_000314.8(PTEN):c.714C>T (p.Phe238=) rs2132277083
NM_000314.8(PTEN):c.729C>T (p.Phe243=)
NM_000314.8(PTEN):c.741A>G (p.Leu247=) rs1554825217
NM_000314.8(PTEN):c.744T>C (p.Pro248=) rs1589663469
NM_000314.8(PTEN):c.747G>A (p.Val249=) rs1060503840
NM_000314.8(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.8(PTEN):c.756T>C (p.Asp252=) rs2132277479
NM_000314.8(PTEN):c.759C>A (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.765A>G (p.Val255=) rs1589663555
NM_000314.8(PTEN):c.774C>T (p.Phe258=) rs1554825246
NM_000314.8(PTEN):c.777C>T (p.His259=) rs2132277664
NM_000314.8(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.8(PTEN):c.786C>T (p.Asn262=) rs2132277734
NM_000314.8(PTEN):c.79+11C>T rs1564801923
NM_000314.8(PTEN):c.79+14C>T rs760610000
NM_000314.8(PTEN):c.79+15G>A
NM_000314.8(PTEN):c.79+15G>C rs1269898602
NM_000314.8(PTEN):c.79+18T>A
NM_000314.8(PTEN):c.79+18T>C
NM_000314.8(PTEN):c.79+19G>C
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.79+9T>A rs2132146167
NM_000314.8(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.8(PTEN):c.80-10A>T rs2132186986
NM_000314.8(PTEN):c.80-10_80-6del rs1589617099
NM_000314.8(PTEN):c.80-15A>G rs2132186952
NM_000314.8(PTEN):c.80-16T>G rs2132186949
NM_000314.8(PTEN):c.80-17T>G rs557842695
NM_000314.8(PTEN):c.80-23_85del rs1589617079
NM_000314.8(PTEN):c.80-4T>C rs2132187028
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.80-6A>G rs1554893744
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.801+11T>C
NM_000314.8(PTEN):c.801+11_801+16del
NM_000314.8(PTEN):c.801+11dup rs2132277897
NM_000314.8(PTEN):c.801+12_801+16del rs2132277881
NM_000314.8(PTEN):c.801+13C>T
NM_000314.8(PTEN):c.801+15T>C rs1057520830
NM_000314.8(PTEN):c.801+16T>C rs2132277921
NM_000314.8(PTEN):c.801+20T>C
NM_000314.8(PTEN):c.801+20T>G
NM_000314.8(PTEN):c.801+7A>T rs1211730867
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-10T>C rs1270511778
NM_000314.8(PTEN):c.802-11_802-3del rs34003473
NM_000314.8(PTEN):c.802-2dup rs1554825500
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3insG
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.802-5_802-4insC
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_000314.8(PTEN):c.802-7T>G rs2132281639
NM_000314.8(PTEN):c.802-7_802-6insC rs2132281643
NM_000314.8(PTEN):c.802-8_802-7insC
NM_000314.8(PTEN):c.802-9T>G rs1057520354
NM_000314.8(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.8(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.8(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.8(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.8(PTEN):c.834C>T (p.Phe278=) rs867171992
NM_000314.8(PTEN):c.837C>T (p.Phe279=) rs2132281941
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.843A>G (p.Pro281=) rs1554825518
NM_000314.8(PTEN):c.852G>A (p.Glu284=) rs1860620187
NM_000314.8(PTEN):c.858C>T (p.Thr286=) rs876660443
NM_000314.8(PTEN):c.861A>G (p.Ser287=) rs1564568288
NM_000314.8(PTEN):c.867A>G (p.Lys289=) rs2132282206
NM_000314.8(PTEN):c.870A>C (p.Val290=) rs529155918
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.8(PTEN):c.876T>C (p.Asn292=) rs864622098
NM_000314.8(PTEN):c.879A>C (p.Gly293=) rs1060503843
NM_000314.8(PTEN):c.879A>G (p.Gly293=) rs1060503843
NM_000314.8(PTEN):c.87T>C (p.Tyr29=) rs1554893756
NM_000314.8(PTEN):c.882T>C (p.Ser294=) rs143335584
NM_000314.8(PTEN):c.883C>T (p.Leu295=) rs756152824
NM_000314.8(PTEN):c.885A>C (p.Leu295=) rs587780713
NM_000314.8(PTEN):c.885A>T (p.Leu295=)
NM_000314.8(PTEN):c.894A>G (p.Gln298=)
NM_000314.8(PTEN):c.900C>A (p.Ile300=) rs550122918
NM_000314.8(PTEN):c.903T>C (p.Asp301=) rs2132282573
NM_000314.8(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.8(PTEN):c.912C>T (p.Cys304=) rs2132282639
NM_000314.8(PTEN):c.921G>A (p.Glu307=) rs1860626419
NM_000314.8(PTEN):c.927A>G (p.Ala309=)
NM_000314.8(PTEN):c.933T>C (p.Asn311=) rs2132282863
NM_000314.8(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.8(PTEN):c.942A>G (p.Glu314=) rs1589666037
NM_000314.8(PTEN):c.946C>T (p.Leu316=) rs1554825577
NM_000314.8(PTEN):c.957T>C (p.Thr319=) rs2132283142
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.975T>C (p.Leu325=)
NM_000314.8(PTEN):c.984A>C (p.Ala328=)
NM_000314.8(PTEN):c.984A>G (p.Ala328=) rs2132283374
NM_000314.8(PTEN):c.993C>T (p.Asp331=) rs2132283468
NM_000314.8(PTEN):c.999C>T (p.Ala333=) rs2132283524
NM_000314.8(PTEN):c.9C>T (p.Ala3=) rs1554890328

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