ClinVar Miner

List of variants in gene PTEN reported as pathogenic for Cowden syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 374
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.180del (p.Lys60fs) rs1589640429 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.586del (p.His196fs) rs587776670 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
C124S
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NC_000010.11:g.87952119del rs2132268865
NC_000010.11:g.87957853_87957860del
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1003_1019del (p.Arg335fs)
NM_000314.8(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter) rs2132283619
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.8(PTEN):c.1010_1014del (p.Phe337fs)
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.1016_1017del (p.Pro339fs)
NM_000314.8(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.8(PTEN):c.1019del (p.Asn340fs)
NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.107del (p.Gly36fs)
NM_000314.8(PTEN):c.1102del (p.Asp368fs)
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)
NM_000314.8(PTEN):c.122_135del (p.Arg41fs)
NM_000314.8(PTEN):c.131dup (p.Val45fs) rs1564814541
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser) rs1859098783
NM_000314.8(PTEN):c.143_146del (p.Asn48fs)
NM_000314.8(PTEN):c.143del (p.Asn48fs)
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
NM_000314.8(PTEN):c.157delinsTA (p.Val53fs)
NM_000314.8(PTEN):c.164+1G>A rs1554893835
NM_000314.8(PTEN):c.164+1G>T rs1554893835
NM_000314.8(PTEN):c.164+1_164+9delinsTTAC
NM_000314.8(PTEN):c.164+2T>A
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.170del (p.Leu57fs)
NM_000314.8(PTEN):c.170dup (p.Leu57fs)
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter) rs1564826779
NM_000314.8(PTEN):c.188del (p.Asn63fs) rs1554897267
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.8(PTEN):c.201dup (p.Tyr68fs) rs2132232362
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.209+2T>A rs878853937
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.211delT (p.Cys71fs)
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.223_227dup (p.Asp77fs)
NM_000314.8(PTEN):c.225_226insG (p.Tyr76fs)
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter) rs1554897866
NM_000314.8(PTEN):c.234del (p.Ala79fs)
NM_000314.8(PTEN):c.240del (p.Lys80fs)
NM_000314.8(PTEN):c.243_245delinsAT (p.Phe81fs)
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter) rs1554897880
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>C rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)
NM_000314.8(PTEN):c.265_266del (p.Pro89fs)
NM_000314.8(PTEN):c.270del (p.Phe90fs) rs1114167678
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)
NM_000314.8(PTEN):c.281dup (p.Asn94fs)
NM_000314.8(PTEN):c.287dup (p.Gln97fs)
NM_000314.8(PTEN):c.29del (p.Ser10fs)
NM_000314.8(PTEN):c.2T>C (p.Met1Thr) rs1858394001
NM_000314.8(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.8(PTEN):c.301_310del (p.Ile101fs)
NM_000314.8(PTEN):c.302_304delinsCC (p.Ile101fs)
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.312_316del (p.Phe104fs)
NM_000314.8(PTEN):c.313del (p.Cys105fs) rs1859969176
NM_000314.8(PTEN):c.314dup (p.Cys105fs)
NM_000314.8(PTEN):c.315_316dup (p.Glu106fs) rs1554898090
NM_000314.8(PTEN):c.315dup (p.Glu106Ter) rs1554898091
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)
NM_000314.8(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.324del (p.Asp109fs)
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter) rs1554898097
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)
NM_000314.8(PTEN):c.339_343del (p.Ser113fs)
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)
NM_000314.8(PTEN):c.347_351del (p.Asp116fs) rs587776666
NM_000314.8(PTEN):c.352_353delinsG (p.His118fs)
NM_000314.8(PTEN):c.357_359delinsAT (p.Val119_Ala120insTer)
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)
NM_000314.8(PTEN):c.370del (p.Cys124fs) rs1554898123
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.372_394del (p.Cys124fs)
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro) rs1554898129
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter) rs587781255
NM_000314.8(PTEN):c.380delinsAA (p.Gly127fs)
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386del (p.Gly129fs) rs1554898139
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.397del (p.Gly132_Val133insTer)
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
NM_000314.8(PTEN):c.405_406del (p.Ile135fs)
NM_000314.8(PTEN):c.405dup (p.Cys136fs) rs398123323
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.40del (p.Arg14fs)
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.8(PTEN):c.416_419del (p.Leu139fs)
NM_000314.8(PTEN):c.416del (p.Leu139fs) rs1554898163
NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)
NM_000314.8(PTEN):c.421_422del (p.His141fs)
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter) rs2132145750
NM_000314.8(PTEN):c.442dup (p.Ala148fs)
NM_000314.8(PTEN):c.444dup (p.Gln149fs)
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) rs786204934
NM_000314.8(PTEN):c.44_45delinsT (p.Arg15fs)
NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs) rs1057524874
NM_000314.8(PTEN):c.451_484del (p.Ala151fs)
NM_000314.8(PTEN):c.454_469del (p.Leu152fs)
NM_000314.8(PTEN):c.458dup (p.Asp153fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.8(PTEN):c.469dup (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.46dup (p.Tyr16fs) rs786204883
NM_000314.8(PTEN):c.472_473del (p.Val158fs)
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) rs876661009
NM_000314.8(PTEN):c.483_492del (p.Asp162fs)
NM_000314.8(PTEN):c.486_487del (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.490_491dup (p.Gly165fs)
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.491dup (p.Val166fs)
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.493-1G>C rs786204862
NM_000314.8(PTEN):c.493-1G>T rs786204862
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493-2_493-1delinsCC rs2132268858
NM_000314.8(PTEN):c.493-5_528del
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu) rs786204863
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala) rs1210737543
NM_000314.8(PTEN):c.499del (p.Thr167fs)
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.503_539del (p.Ile168fs)
NM_000314.8(PTEN):c.504_522del (p.Ile168fs)
NM_000314.8(PTEN):c.507del (p.Ser170fs) rs587776673
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) rs587781912
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.512dup (p.Arg172fs) rs1114167632
NM_000314.8(PTEN):c.517_523del (p.Arg173fs)
NM_000314.8(PTEN):c.518_519dup (p.Tyr174fs)
NM_000314.8(PTEN):c.51dup (p.Glu18fs)
NM_000314.8(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.8(PTEN):c.528_529dup (p.Tyr177fs)
NM_000314.8(PTEN):c.529dup (p.Tyr177fs)
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer) rs397515374
NM_000314.8(PTEN):c.537_538del (p.Ser179fs)
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter) rs786202733
NM_000314.8(PTEN):c.543_547delinsAT (p.Leu182_Lys183delinsTer)
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.8(PTEN):c.545_564del (p.Leu181_Leu182insTer)
NM_000314.8(PTEN):c.546_547insT (p.Lys183Ter)
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.551_560del (p.Asn184fs)
NM_000314.8(PTEN):c.55_70del (p.Asp19fs)
NM_000314.8(PTEN):c.55dup (p.Asp19fs)
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.570dup (p.Val191fs)
NM_000314.8(PTEN):c.571del (p.Val191fs)
NM_000314.8(PTEN):c.581del (p.Leu194fs)
NM_000314.8(PTEN):c.583_586del (p.Phe195fs)
NM_000314.8(PTEN):c.58_61del (p.Gly20fs)
NM_000314.8(PTEN):c.599_600del (p.Met199_Phe200insTer)
NM_000314.8(PTEN):c.606_610dup (p.Pro204fs)
NM_000314.8(PTEN):c.607del (p.Ile203fs)
NM_000314.8(PTEN):c.607dup (p.Ile203fs)
NM_000314.8(PTEN):c.60dup (p.Phe21fs) rs2132145926
NM_000314.8(PTEN):c.611del (p.Pro204fs)
NM_000314.8(PTEN):c.614del (p.Met205fs)
NM_000314.8(PTEN):c.617del (p.Phe206fs)
NM_000314.8(PTEN):c.621_622insACTG (p.Gly208fs)
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.8(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.8(PTEN):c.632_633delinsAG (p.Cys211Ter)
NM_000314.8(PTEN):c.632dup (p.Cys211fs) rs1114167663
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+4A>T rs1554900675
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.638del (p.Pro213fs)
NM_000314.8(PTEN):c.639_640delinsCT (p.Gln214Ter)
NM_000314.8(PTEN):c.639_640dup (p.Gln214fs)
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.644_647del (p.Phe215fs)
NM_000314.8(PTEN):c.647_648del (p.Val216fs)
NM_000314.8(PTEN):c.648_649insACCG (p.Val217fs)
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)
NM_000314.8(PTEN):c.661_683del (p.Lys221fs)
NM_000314.8(PTEN):c.664_691dup (p.Pro231fs)
NM_000314.8(PTEN):c.664del (p.Lys221_Val222insTer)
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.8(PTEN):c.672del (p.Tyr225fs) rs1564566774
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.676del (p.Ser226fs)
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
NM_000314.8(PTEN):c.694dup (p.Thr232fs)
NM_000314.8(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.698dup (p.Arg234fs)
NM_000314.8(PTEN):c.69_79delAGACTTGACCT (p.Asp24fs)
NM_000314.8(PTEN):c.700_709dup (p.Lys237fs)
NM_000314.8(PTEN):c.703del (p.Glu235fs)
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.8(PTEN):c.713del (p.Phe238fs)
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.8(PTEN):c.723del (p.Phe241fs) rs1060500115
NM_000314.8(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)
NM_000314.8(PTEN):c.728del (p.Phe243fs)
NM_000314.8(PTEN):c.731del (p.Pro244fs)
NM_000314.8(PTEN):c.732_733insGG (p.Gln245fs)
NM_000314.8(PTEN):c.732_781del (p.Gln245fs)
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.737_738insT (p.Leu247fs)
NM_000314.8(PTEN):c.737del (p.Pro246fs)
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter) rs1589663442
NM_000314.8(PTEN):c.739_742delinsGG (p.Leu247fs)
NM_000314.8(PTEN):c.73_74del (p.Leu25fs)
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.743del (p.Pro248fs)
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs) rs1860548195
NM_000314.8(PTEN):c.759del (p.Lys254_Val255insTer)
NM_000314.8(PTEN):c.75_76del (p.Leu25fs)
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.8(PTEN):c.784_788del (p.Asn262fs)
NM_000314.8(PTEN):c.789del (p.Met264fs)
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000314.8(PTEN):c.799_800del (p.Lys267fs)
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
NM_000314.8(PTEN):c.802-1G>C
NM_000314.8(PTEN):c.802-1G>T rs1257124719
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000314.8(PTEN):c.802-6_802-2delinsG
NM_000314.8(PTEN):c.806_831del (p.Lys269fs)
NM_000314.8(PTEN):c.808del (p.Met270fs)
NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)
NM_000314.8(PTEN):c.820del (p.Trp274fs)
NM_000314.8(PTEN):c.820dup (p.Trp274fs)
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.829dup (p.Thr277fs) rs1589665640
NM_000314.8(PTEN):c.833_834delinsAA (p.Phe278Ter)
NM_000314.8(PTEN):c.833del (p.Phe278fs)
NM_000314.8(PTEN):c.83_84insCTAT (p.Pro30fs)
NM_000314.8(PTEN):c.841_851del (p.Pro281fs)
NM_000314.8(PTEN):c.846_847del (p.Pro283fs)
NM_000314.8(PTEN):c.84_87del (p.Tyr29fs)
NM_000314.8(PTEN):c.850_860del (p.Glu284fs)
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter) rs562015640
NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)
NM_000314.8(PTEN):c.867dup (p.Val290fs)
NM_000314.8(PTEN):c.868_892del (p.Val290fs)
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)
NM_000314.8(PTEN):c.874_877dup (p.Gly293fs)
NM_000314.8(PTEN):c.875del (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.876_880del (p.Asn292fs)
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.8(PTEN):c.877_923dup (p.Arg308_Ala309insGluValTyrValIleLysLysSerIleAlaPheAlaValTer)
NM_000314.8(PTEN):c.880dup (p.Ser294fs)
NM_000314.8(PTEN):c.883_884del (p.Leu295fs)
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.894dup (p.Glu299fs)
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter) rs1114167674
NM_000314.8(PTEN):c.904_910del (p.Ser302fs)
NM_000314.8(PTEN):c.910_934del (p.Cys304fs)
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000314.8(PTEN):c.922del (p.Arg308fs)
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)
NM_000314.8(PTEN):c.930delinsAA (p.Asp310fs)
NM_000314.8(PTEN):c.932del (p.Asn311fs)
NM_000314.8(PTEN):c.940del (p.Glu314fs)
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.949del (p.Val317fs) rs876658837
NM_000314.8(PTEN):c.951dup (p.Leu318fs)
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000314.8(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.8(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.8(PTEN):c.956_960del (p.Thr319fs) rs1589666094
NM_000314.8(PTEN):c.958_959insG (p.Leu320fs)
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000314.8(PTEN):c.966_967delinsG (p.Asn323fs)
NM_000314.8(PTEN):c.968del (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.969del (p.Asn323fs)
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del) rs1860630372
NM_000314.8(PTEN):c.975_982del (p.Asp326fs)
NM_000314.8(PTEN):c.97_98del (p.Ile33fs) rs876658171
NM_000314.8(PTEN):c.986del (p.Asn329fs)
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.987_990dup (p.Asp331Ter)
NM_000314.8(PTEN):c.988_1014delinsTATCCATATAGATAATTTAACTGA (p.Lys330_Ser338delinsTyrProTyrArgTer)
NM_000314.8(PTEN):c.990del (p.Asp331fs)
NM_000314.8(PTEN):c.999dup (p.Asn334fs)
NM_001304718.2(PTEN):c.-541-5533del rs2132232095
PTEN, DEL

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