NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
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
|
NC_000010.10:g.(?_89653180)_(89653844_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89685324_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89693018_?)dup
|
|
|
NC_000010.10:g.(?_89711865)_(89712026_?)dup
|
|
|
NC_000010.10:g.(?_89725034)_(89725321_?)del
|
|
|
NC_000010.11:g.(?_87952108)_(87958029_?)del
|
|
|
NC_000010.11:g.87965287del
|
rs2132289111
|
|
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
|
rs587776672
|
|
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
|
|
|
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)
|
rs1589617199
|
|
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)
|
rs1554825652
|
|
NM_000314.8(PTEN):c.1023del (p.Phe341fs)
|
rs1564568689
|
|
NM_000314.8(PTEN):c.1026+1G>A
|
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.1026G>T (p.Lys342Asn)
|
rs398123314
|
|
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>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.1029_1039del (p.Lys344fs)
|
rs1064796236
|
|
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
|
rs1554826024
|
|
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.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)
|
rs1554826049
|
|
NM_000314.8(PTEN):c.1137_1140del (p.Arg378_Tyr379insTer)
|
rs2132289978
|
|
NM_000314.8(PTEN):c.1139del (p.Ser380fs)
|
rs2132289992
|
|
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter)
|
rs2132290171
|
|
NM_000314.8(PTEN):c.126_164+5del
|
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
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.152ATG[1] (p.Asp52del)
|
rs1589617371
|
|
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
|
|
|
NM_000314.8(PTEN):c.156_164+4delinsCAT
|
|
|
NM_000314.8(PTEN):c.165-17_165del
|
rs1554897240
|
|
NM_000314.8(PTEN):c.165-1G>A
|
rs786203847
|
|
NM_000314.8(PTEN):c.165-36_195del
|
|
|
NM_000314.8(PTEN):c.165-9T>A
|
rs878853934
|
|
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)
|
rs786202398
|
|
NM_000314.8(PTEN):c.181C>G (p.His61Asp)
|
rs121909236
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.187_209+4del
|
|
|
NM_000314.8(PTEN):c.194_209+28del
|
|
|
NM_000314.8(PTEN):c.1A>G (p.Met1Val)
|
rs1554890324
|
|
NM_000314.8(PTEN):c.200T>G (p.Ile67Arg)
|
|
|
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.202T>G (p.Tyr68Asp)
|
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.209+2047A>G
|
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
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.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT
|
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>G
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-6_210-2del
|
rs1564828909
|
|
NM_000314.8(PTEN):c.210-7_220del
|
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.253+1dup
|
rs876660082
|
|
NM_000314.8(PTEN):c.253+5G>A
|
rs1554897889
|
|
NM_000314.8(PTEN):c.253+5G>C
|
rs1554897889
|
|
NM_000314.8(PTEN):c.253+5G>T
|
rs1554897889
|
|
NM_000314.8(PTEN):c.254-19_326del
|
|
|
NM_000314.8(PTEN):c.254-1G>A
|
rs1057520208
|
|
NM_000314.8(PTEN):c.254-1del
|
rs2132241961
|
|
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs)
|
rs1859964600
|
|
NM_000314.8(PTEN):c.270dup (p.Glu91Ter)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
|
|
|
NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr)
|
rs1554898067
|
|
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)
|
rs779530981
|
|
NM_000314.8(PTEN):c.277C>G (p.His93Asp)
|
rs786204927
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.278A>C (p.His93Pro)
|
rs121909238
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu)
|
rs786204856
|
|
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.287C>T (p.Pro96Leu)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg)
|
rs781647403
|
|
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
|
|
|
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
|
|
|
NM_000314.8(PTEN):c.300dup (p.Ile101fs)
|
rs1554898083
|
|
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)
|
rs1554898085
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)
|
rs57374291
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)
|
rs869312775
|
|
NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)
|
rs1085308044
|
|
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.370T>A (p.Cys124Ser)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
|
|
|
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
|
rs1554898127
|
|
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)
|
|
|
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)
|
rs1114167656
|
|
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)
|
rs587781255
|
|
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)
|
|
|
NM_000314.8(PTEN):c.37A>C (p.Lys13Gln)
|
rs1554890348
|
|
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)
|
rs1554890348
|
|
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu)
|
rs1554898138
|
|
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn)
|
rs1114167645
|
|
NM_000314.8(PTEN):c.385G>A (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.388C>G (p.Arg130Gly)
|
rs121909224
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
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.39_40del (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.3_27del (p.Met1fs)
|
rs2132145338
|
|
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)
|
rs1085308046
|
|
NM_000314.8(PTEN):c.402G>C (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)
|
rs587782360
|
|
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.408T>G (p.Cys136Trp)
|
rs869312776
|
|
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly)
|
rs1085308047
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
|
|
|
NM_000314.8(PTEN):c.423del (p.Arg142fs)
|
rs1859979785
|
|
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)
|
rs746152219
|
|
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs)
|
rs1114167641
|
|
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)
|
rs398123324
|
|
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr)
|
rs398123324
|
|
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)
|
rs1064794096
|
|
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.471del (p.Glu157_Val158insTer)
|
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys)
|
rs1114167673
|
|
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser)
|
rs1057519724
|
|
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)
|
rs869312777
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1_492+5del
|
rs1554898238
|
|
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.493-1G>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.493G>A (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)
|
rs397514559
|
|
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)
|
rs876660507
|
|
NM_000314.8(PTEN):c.50_79+23del
|
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)
|
rs121913294
|
|
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn)
|
rs587782316
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)
|
rs1589659492
|
|
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)
|
rs606231170
|
|
NM_000314.8(PTEN):c.593T>A (p.Met198Lys)
|
rs1554900635
|
|
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
|
rs786204867
|
|
NM_000314.8(PTEN):c.59G>T (p.Gly20Val)
|
rs1064795967
|
|
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.635-3C>G
|
rs1085308056
|
|
NM_000314.8(PTEN):c.64G>C (p.Asp22His)
|
rs876660420
|
|
NM_000314.8(PTEN):c.67T>G (p.Leu23Val)
|
rs876661244
|
|
NM_000314.8(PTEN):c.696del (p.Arg233fs)
|
rs587776669
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.70G>C (p.Asp24His)
|
rs786201995
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.71A>T (p.Asp24Val)
|
rs797044910
|
|
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
|
|
|
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)
|
rs121909240
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs)
|
rs786204902
|
|
NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.746T>G (p.Val249Gly)
|
rs2132277407
|
|
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)
|
rs121909239
|
|
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)
|
rs121909239
|
|
NM_000314.8(PTEN):c.761_765del (p.Lys254fs)
|
rs606231169
|
|
NM_000314.8(PTEN):c.765_766insTTC (p.Val255_Glu256insPhe)
|
rs2132277565
|
|
NM_000314.8(PTEN):c.77C>A (p.Thr26Asn)
|
rs786204853
|
|
NM_000314.8(PTEN):c.79+1G>A
|
|
|
NM_000314.8(PTEN):c.79+1G>C
|
rs2132146122
|
|
NM_000314.8(PTEN):c.80-1G>C
|
rs786204914
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.80-2A>C
|
rs2132187034
|
|
NM_000314.8(PTEN):c.801+1G>A
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1del
|
rs1060500110
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
NM_000314.8(PTEN):c.802-2_816del
|
|
|
NM_000314.8(PTEN):c.802-2del
|
rs886047397
|
|
NM_000314.8(PTEN):c.802-37_815del
|
|
|
NM_000314.8(PTEN):c.802-4_804delinsA
|
rs1064792911
|
|
NM_000314.8(PTEN):c.802-54_883del
|
|
|
NM_000314.8(PTEN):c.802-8_839del
|
|
|
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.827A>T (p.Asn276Ile)
|
rs1860618095
|
|
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)
|
rs398123329
|
|
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)
|
rs398123329
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs)
|
rs1554825530
|
|
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs)
|
rs1114167680
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
NM_000314.8(PTEN):c.898del (p.Ile300fs)
|
rs2132282499
|
|
NM_000314.8(PTEN):c.916dup (p.Ile306fs)
|
rs1860625934
|
|
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)
|
rs1859093459
|
|
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)
|
rs1564568473
|
|
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro)
|
rs1064793345
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)
|
rs786202004
|
|
NM_000314.8(PTEN):c.966_996del (p.Asn323fs)
|
rs2132283188
|
|
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.968dup (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer)
|
rs1114167640
|
|
NM_000314.8(PTEN):c.977A>G (p.Asp326Gly)
|
rs1860631246
|
|