NM_000314.8(PTEN):c.1026+32T>G
|
rs555895
|
0.40232
|
NM_000314.8(PTEN):c.210-39A>G
|
rs370918174
|
0.00177
|
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.-9C>G
|
rs11202592
|
0.00139
|
NM_000314.8(PTEN):c.801+23G>A
|
rs116160352
|
0.00091
|
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.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.-111G>T
|
rs761148721
|
0.00006
|
NM_000314.8(PTEN):c.493-31A>G
|
rs550267891
|
0.00006
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
NM_000314.8(PTEN):c.802-2A>T
|
rs587782455
|
0.00005
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000314.8(PTEN):c.493-52A>G
|
rs1043121029
|
0.00003
|
NM_000314.8(PTEN):c.635-16G>A
|
rs750772657
|
0.00003
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
NM_000314.8(PTEN):c.261A>G (p.Gln87=)
|
rs149772796
|
0.00002
|
NM_000314.8(PTEN):c.900C>T (p.Ile300=)
|
rs550122918
|
0.00002
|
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile)
|
rs758542021
|
0.00001
|
NM_000314.8(PTEN):c.180del (p.Lys60fs)
|
rs1589640429
|
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.210-26A>G
|
rs776849737
|
0.00001
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
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.613A>G (p.Met205Val)
|
rs776763121
|
0.00001
|
NM_000314.8(PTEN):c.738G>A (p.Pro246=)
|
rs774364894
|
0.00001
|
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)
|
rs786204853
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_000314.8(PTEN):c.79+7A>G
|
rs374331677
|
0.00001
|
NM_000314.8(PTEN):c.801+8C>G
|
rs1057517630
|
0.00001
|
C124S
|
|
|
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
|
|
|
NC_000010.11:g.87952119del
|
rs2132268865
|
|
NC_000010.11:g.87957853_87957860del
|
|
|
NC_000010.11:g.87965287del
|
rs2132289111
|
|
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
|
rs587776672
|
|
NM_000314.8(PTEN):c.*10del
|
rs756681683
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
NM_000314.8(PTEN):c.-17G>C
|
rs1064793744
|
|
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
|
|
|
NM_000314.8(PTEN):c.-500GGC[6]
|
rs1237307954
|
|
NM_000314.8(PTEN):c.-735G>A
|
rs886047384
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1003_1019del (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu)
|
rs1085308040
|
|
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.100G>C (p.Ala34Pro)
|
rs1589617199
|
|
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.1021T>G (p.Phe341Val)
|
rs1554825652
|
|
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.1026+1G>T
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+1_1026+2delinsTC
|
|
|
NM_000314.8(PTEN):c.1026+2T>A
|
|
|
NM_000314.8(PTEN):c.1026+2T>C
|
|
|
NM_000314.8(PTEN):c.1026+2T>G
|
rs1114167624
|
|
NM_000314.8(PTEN):c.1026+2_1026+19delinsG
|
|
|
NM_000314.8(PTEN):c.1026+38dup
|
rs767896771
|
|
NM_000314.8(PTEN):c.1027-11_1028del
|
|
|
NM_000314.8(PTEN):c.1027-1G>A
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-1G>C
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-1G>T
|
|
|
NM_000314.8(PTEN):c.1027-29_1029del
|
|
|
NM_000314.8(PTEN):c.1027-2A>C
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-2A>G
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-2A>T
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-4_1027-2delinsGTC
|
|
|
NM_000314.8(PTEN):c.103A>C (p.Met35Leu)
|
rs876659443
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.104T>C (p.Met35Thr)
|
rs121909225
|
|
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)
|
rs121909225
|
|
NM_000314.8(PTEN):c.105G>A (p.Met35Ile)
|
rs1554893782
|
|
NM_000314.8(PTEN):c.105_106delinsTC (p.Met35_Gly36delinsIleArg)
|
|
|
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)
|
rs375709098
|
|
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)
|
rs876661264
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.107del (p.Gly36fs)
|
|
|
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.126_164+5del
|
|
|
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.144C>A (p.Asn48Lys)
|
rs762518389
|
|
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys)
|
rs762518389
|
|
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
|
|
|
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
|
|
|
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.165-17G>C
|
rs898943632
|
|
NM_000314.8(PTEN):c.165-17_165del
|
rs1554897240
|
|
NM_000314.8(PTEN):c.165-1G>A
|
rs786203847
|
|
NM_000314.8(PTEN):c.165-1G>C
|
rs786203847
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.165-2A>G
|
rs1085308043
|
|
NM_000314.8(PTEN):c.165-36_195del
|
|
|
NM_000314.8(PTEN):c.165-8_165-4del
|
rs760571273
|
|
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.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.187_209+4del
|
|
|
NM_000314.8(PTEN):c.188del (p.Asn63fs)
|
rs1554897267
|
|
NM_000314.8(PTEN):c.194_209+28del
|
|
|
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.1A>G (p.Met1Val)
|
rs1554890324
|
|
NM_000314.8(PTEN):c.201dup (p.Tyr68fs)
|
rs2132232362
|
|
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn)
|
rs398123317
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)
|
rs876660634
|
|
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+2T>C
|
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.210-1G>C
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-26A>T
|
rs776849737
|
|
NM_000314.8(PTEN):c.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT
|
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>G
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2_211del
|
rs1554897854
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.210-8del
|
rs1554897849
|
|
NM_000314.8(PTEN):c.211delT (p.Cys71fs)
|
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
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.235G>T (p.Ala79Ser)
|
rs202004587
|
|
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.254-19_326del
|
|
|
NM_000314.8(PTEN):c.254-20A>G
|
|
|
NM_000314.8(PTEN):c.254-21G>C
|
rs1859963198
|
|
NM_000314.8(PTEN):c.254-30dup
|
rs77494260
|
|
NM_000314.8(PTEN):c.254-40A>G
|
rs767049245
|
|
NM_000314.8(PTEN):c.254-51A>T
|
rs1554898040
|
|
NM_000314.8(PTEN):c.254-6C>T
|
rs1057520525
|
|
NM_000314.8(PTEN):c.254-72A>T
|
rs1554898037
|
|
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)
|
rs1554898053
|
|
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs)
|
rs1859964600
|
|
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter)
|
rs1554898056
|
|
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)
|
|
|
NM_000314.8(PTEN):c.265C>T (p.Pro89Ser)
|
rs587783059
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)
|
|
|
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
|
|
|
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)
|
rs779530981
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.281dup (p.Asn94fs)
|
|
|
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.287dup (p.Gln97fs)
|
|
|
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
|
|
|
NM_000314.8(PTEN):c.29del (p.Ser10fs)
|
|
|
NM_000314.8(PTEN):c.2T>C (p.Met1Thr)
|
rs1858394001
|
|
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
|
|
|
NM_000314.8(PTEN):c.300dup (p.Ile101fs)
|
rs1554898083
|
|
NM_000314.8(PTEN):c.301_310del (p.Ile101fs)
|
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
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.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.319G>T (p.Asp107Tyr)
|
rs57374291
|
|
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.331T>C (p.Trp111Arg)
|
rs398123321
|
|
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.362C>A (p.Ala121Glu)
|
|
|
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser)
|
rs1589646321
|
|
NM_000314.8(PTEN):c.367C>G (p.His123Asp)
|
rs786204931
|
|
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)
|
rs786204931
|
|
NM_000314.8(PTEN):c.368A>G (p.His123Arg)
|
rs121909222
|
|
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser)
|
rs121909223
|
|
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.372T>G (p.Cys124Trp)
|
|
|
NM_000314.8(PTEN):c.372_394del (p.Cys124fs)
|
|
|
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
|
rs1554898127
|
|
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)
|
|
|
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)
|
rs587781255
|
|
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)
|
|
|
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter)
|
rs587781255
|
|
NM_000314.8(PTEN):c.380delinsAA (p.Gly127fs)
|
|
|
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)
|
rs786204929
|
|
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.386G>T (p.Gly129Val)
|
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.394G>A (p.Gly132Ser)
|
rs1859977029
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
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.3_27del (p.Met1fs)
|
rs2132145338
|
|
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
|
|
|
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)
|
rs1085308046
|
|
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)
|
rs587782360
|
|
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.407G>A (p.Cys136Tyr)
|
rs786204859
|
|
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly)
|
rs1085308047
|
|
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.424C>T (p.Arg142Trp)
|
rs746152219
|
|
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.457G>C (p.Asp153His)
|
rs9651492
|
|
NM_000314.8(PTEN):c.458dup (p.Asp153fs)
|
|
|
NM_000314.8(PTEN):c.461_492+7del
|
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)
|
rs1060500126
|
|
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.471del (p.Glu157_Val158insTer)
|
|
|
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>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+2T>G
|
rs1554898244
|
|
NM_000314.8(PTEN):c.492+2del
|
rs1060500124
|
|
NM_000314.8(PTEN):c.492_492+1delinsA
|
|
|
NM_000314.8(PTEN):c.493-12dup
|
rs756623620
|
|
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>A (p.Gly165Arg)
|
rs587782603
|
|
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.509G>A (p.Ser170Asn)
|
rs876660507
|
|
NM_000314.8(PTEN):c.50_51del (p.Gln17fs)
|
rs587781912
|
|
NM_000314.8(PTEN):c.50_79+23del
|
|
|
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.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.528_529dup (p.Tyr177fs)
|
|
|
NM_000314.8(PTEN):c.529T>A (p.Tyr177Asn)
|
rs1860418425
|
|
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.542T>C (p.Leu181Pro)
|
rs1589659492
|
|
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.599T>C (p.Phe200Ser)
|
rs786204867
|
|
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.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>A
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-1G>C
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-1G>T
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-2A>G
|
rs1564566706
|
|
NM_000314.8(PTEN):c.635-32_643del
|
|
|
NM_000314.8(PTEN):c.635-33_653del
|
|
|
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.66C>G (p.Asp22Glu)
|
rs786201335
|
|
NM_000314.8(PTEN):c.66C>T (p.Asp22=)
|
rs786201335
|
|
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.685T>A (p.Ser229Thr)
|
rs587781998
|
|
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.700C>T (p.Arg234Trp)
|
rs786201730
|
|
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>C (p.Asp24His)
|
rs786201995
|
|
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)
|
rs786201995
|
|
NM_000314.8(PTEN):c.713del (p.Phe238fs)
|
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)
|
|
|
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs)
|
rs1554825206
|
|
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
|
|
|
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_740insAT (p.Leu247fs)
|
rs786204902
|
|
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.752G>A (p.Gly251Asp)
|
rs1554825226
|
|
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)
|
rs121909239
|
|
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.781C>G (p.Gln261Glu)
|
rs730882131
|
|
NM_000314.8(PTEN):c.784_788del (p.Asn262fs)
|
|
|
NM_000314.8(PTEN):c.789del (p.Met264fs)
|
|
|
NM_000314.8(PTEN):c.79+23_79+25del
|
rs1221062997
|
|
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.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.80-3C>G
|
rs1554893746
|
|
NM_000314.8(PTEN):c.800del (p.Lys267fs)
|
rs121913289
|
|
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
|
|
|
NM_000314.8(PTEN):c.801+1G>A
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1del
|
rs1060500110
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
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.802-2_816del
|
|
|
NM_000314.8(PTEN):c.802-37_815del
|
|
|
NM_000314.8(PTEN):c.802-3T>A
|
rs587780712
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
NM_000314.8(PTEN):c.802-54_883del
|
|
|
NM_000314.8(PTEN):c.802-5T>G
|
|
|
NM_000314.8(PTEN):c.802-6T>G
|
rs1057522284
|
|
NM_000314.8(PTEN):c.802-6_802-2delinsG
|
|
|
NM_000314.8(PTEN):c.802-8_839del
|
|
|
NM_000314.8(PTEN):c.806_831del (p.Lys269fs)
|
|
|
NM_000314.8(PTEN):c.808del (p.Met270fs)
|
|
|
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)
|
rs886041877
|
|
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)
|
rs886041877
|
|
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.830C>G (p.Thr277Arg)
|
rs398123329
|
|
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.865_866insCT (p.Lys289fs)
|
rs1554825530
|
|
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.898del (p.Ile300fs)
|
rs2132282499
|
|
NM_000314.8(PTEN):c.904_910del (p.Ser302fs)
|
|
|
NM_000314.8(PTEN):c.910_934del (p.Cys304fs)
|
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000314.8(PTEN):c.916dup (p.Ile306fs)
|
rs1860625934
|
|
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>C (p.Leu320Ser)
|
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.966_996del (p.Asn323fs)
|
rs2132283188
|
|
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.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer)
|
rs1114167640
|
|
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
|
|
|