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.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
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.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
NM_000314.8(PTEN):c.210-12C>T
|
rs766570103
|
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.75G>A (p.Leu25=)
|
rs786201506
|
0.00001
|
NM_000314.8(PTEN):c.923G>A (p.Arg308His)
|
rs786201507
|
0.00001
|
NM_000314.4(PTEN):c.-380_-378GGC[5]
|
|
|
NM_000314.8(PTEN):c.*667A>T
|
rs886047409
|
|
NM_000314.8(PTEN):c.-326=
|
|
|
NM_000314.8(PTEN):c.-511G>A
|
rs12573787
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1012del (p.Ser338fs)
|
rs1564568660
|
|
NM_000314.8(PTEN):c.1027-1G>A
|
rs1057517809
|
|
NM_000314.8(PTEN):c.102del (p.Met35fs)
|
rs1564814454
|
|
NM_000314.8(PTEN):c.1034_1050del (p.Leu345fs)
|
rs1564570283
|
|
NM_000314.8(PTEN):c.1083T>C (p.Ser361=)
|
rs2132289564
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)
|
|
|
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)
|
rs786202398
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+4_209+7del
|
rs398123318
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
NM_000314.8(PTEN):c.209dup (p.Cys71Leufs)
|
rs1564826829
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.218A>G (p.Glu73Gly)
|
rs2132238743
|
|
NM_000314.8(PTEN):c.253+1G>A
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
NM_000314.8(PTEN):c.254-13_254-12del
|
|
|
NM_000314.8(PTEN):c.254-16dup
|
|
|
NM_000314.8(PTEN):c.254-22T>A
|
|
|
NM_000314.8(PTEN):c.254-23C>A
|
|
|
NM_000314.8(PTEN):c.254-2_254-1del
|
|
|
NM_000314.8(PTEN):c.254-5dup
|
|
|
NM_000314.8(PTEN):c.254-7A>T
|
|
|
NM_000314.8(PTEN):c.254-8del
|
|
|
NM_000314.8(PTEN):c.255del (p.Ala86fs)
|
|
|
NM_000314.8(PTEN):c.260A>T (p.Gln87Leu)
|
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.285del (p.Pro96fs)
|
|
|
NM_000314.8(PTEN):c.291G>A (p.Gln97=)
|
rs1564829889
|
|
NM_000314.8(PTEN):c.298C>A (p.Leu100Ile)
|
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
NM_000314.8(PTEN):c.306dup (p.Pro103fs)
|
|
|
NM_000314.8(PTEN):c.315T>A (p.Cys105Ter)
|
|
|
NM_000314.8(PTEN):c.315T>C (p.Cys105=)
|
|
|
NM_000314.8(PTEN):c.315T>G (p.Cys105Trp)
|
|
|
NM_000314.8(PTEN):c.318_319insT (p.Asp107Ter)
|
|
|
NM_000314.8(PTEN):c.318_320delinsCTT (p.Glu106_Asp107delinsAspPhe)
|
|
|
NM_000314.8(PTEN):c.318dup (p.Asp107fs)
|
|
|
NM_000314.8(PTEN):c.319G>C (p.Asp107His)
|
|
|
NM_000314.8(PTEN):c.319_320insT (p.Asp107fs)
|
|
|
NM_000314.8(PTEN):c.322C>T (p.Leu108Phe)
|
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000314.8(PTEN):c.323_326delinsCC (p.Leu108fs)
|
|
|
NM_000314.8(PTEN):c.326A>C (p.Asp109Ala)
|
|
|
NM_000314.8(PTEN):c.331del (p.Trp111fs)
|
|
|
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
|
|
|
NM_000314.8(PTEN):c.333dup (p.Leu112fs)
|
|
|
NM_000314.8(PTEN):c.334C>A (p.Leu112Ile)
|
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
NM_000314.8(PTEN):c.334del (p.Trp111_Leu112insTer)
|
|
|
NM_000314.8(PTEN):c.338del (p.Ser113fs)
|
|
|
NM_000314.8(PTEN):c.339T>A (p.Ser113Arg)
|
|
|
NM_000314.8(PTEN):c.339T>G (p.Ser113Arg)
|
|
|
NM_000314.8(PTEN):c.342A>C (p.Glu114Asp)
|
|
|
NM_000314.8(PTEN):c.343del (p.Asp115fs)
|
|
|
NM_000314.8(PTEN):c.344del (p.Asp115fs)
|
|
|
NM_000314.8(PTEN):c.345T>A (p.Asp115Glu)
|
rs2132242798
|
|
NM_000314.8(PTEN):c.350del (p.Asn117fs)
|
|
|
NM_000314.8(PTEN):c.353A>T (p.His118Leu)
|
|
|
NM_000314.8(PTEN):c.356_357insC (p.Ala120fs)
|
|
|
NM_000314.8(PTEN):c.357dup (p.Ala120fs)
|
|
|
NM_000314.8(PTEN):c.360_361insC (p.Ala121fs)
|
|
|
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
|
|
|
NM_000314.8(PTEN):c.361G>C (p.Ala121Pro)
|
|
|
NM_000314.8(PTEN):c.361del (p.Ala121fs)
|
|
|
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly)
|
rs121909237
|
|
NM_000314.8(PTEN):c.364A>C (p.Ile122Leu)
|
|
|
NM_000314.8(PTEN):c.365T>A (p.Ile122Asn)
|
|
|
NM_000314.8(PTEN):c.366dup (p.His123fs)
|
|
|
NM_000314.8(PTEN):c.367dup (p.His123fs)
|
|
|
NM_000314.8(PTEN):c.368A>C (p.His123Pro)
|
|
|
NM_000314.8(PTEN):c.368del (p.His123fs)
|
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370dup (p.Cys124fs)
|
|
|
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
|
|
|
NM_000314.8(PTEN):c.372del (p.His123_Cys124insTer)
|
|
|
NM_000314.8(PTEN):c.375del (p.Ala126fs)
|
|
|
NM_000314.8(PTEN):c.376del (p.Ala126fs)
|
|
|
NM_000314.8(PTEN):c.380G>C (p.Gly127Ala)
|
|
|
NM_000314.8(PTEN):c.383del (p.Lys128fs)
|
|
|
NM_000314.8(PTEN):c.383dup (p.Arg130fs)
|
|
|
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)
|
rs121909218
|
|
NM_000314.8(PTEN):c.387_427del (p.Arg130fs)
|
|
|
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>C (p.Arg130Pro)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.390_391delinsGG (p.Thr131Ala)
|
|
|
NM_000314.8(PTEN):c.391dup (p.Thr131fs)
|
|
|
NM_000314.8(PTEN):c.393_394delinsAA (p.Gly132Ser)
|
|
|
NM_000314.8(PTEN):c.395G>C (p.Gly132Ala)
|
|
|
NM_000314.8(PTEN):c.396del (p.Gly132_Val133insTer)
|
|
|
NM_000314.8(PTEN):c.398_399del (p.Val133fs)
|
|
|
NM_000314.8(PTEN):c.398del (p.Val133fs)
|
|
|
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
|
|
|
NM_000314.8(PTEN):c.401_402delinsA (p.Met134fs)
|
|
|
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)
|
rs587782360
|
|
NM_000314.8(PTEN):c.403dup (p.Ile135fs)
|
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
|
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000314.8(PTEN):c.406del (p.Cys136fs)
|
|
|
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr)
|
rs786204859
|
|
NM_000314.8(PTEN):c.407del (p.Cys136fs)
|
|
|
NM_000314.8(PTEN):c.409dup (p.Ala137fs)
|
|
|
NM_000314.8(PTEN):c.419T>C (p.Leu140Ser)
|
|
|
NM_000314.8(PTEN):c.422del (p.His141fs)
|
|
|
NM_000314.8(PTEN):c.424dup (p.Arg142fs)
|
|
|
NM_000314.8(PTEN):c.427_428insA (p.Gly143fs)
|
|
|
NM_000314.8(PTEN):c.427_428insCCAATGCTGCAACGAATGTCATCTTATTAAACC (p.Gly143delinsAlaAsnAlaAlaThrAsnValIleLeuLeuAsnArg)
|
|
|
NM_000314.8(PTEN):c.428_429delinsAA (p.Gly143Glu)
|
|
|
NM_000314.8(PTEN):c.428_430delinsC (p.Gly143fs)
|
|
|
NM_000314.8(PTEN):c.428del (p.Gly143fs)
|
rs2132243612
|
|
NM_000314.8(PTEN):c.429C>A (p.Gly143=)
|
|
|
NM_000314.8(PTEN):c.429del (p.Lys144fs)
|
|
|
NM_000314.8(PTEN):c.430_431delinsC (p.Lys144fs)
|
|
|
NM_000314.8(PTEN):c.431A>C (p.Lys144Thr)
|
|
|
NM_000314.8(PTEN):c.431A>G (p.Lys144Arg)
|
|
|
NM_000314.8(PTEN):c.432A>C (p.Lys144Asn)
|
|
|
NM_000314.8(PTEN):c.432A>T (p.Lys144Asn)
|
|
|
NM_000314.8(PTEN):c.432_433insGA (p.Phe145fs)
|
|
|
NM_000314.8(PTEN):c.432_435delinsGAGG (p.Phe145Arg)
|
|
|
NM_000314.8(PTEN):c.432dup (p.Phe145fs)
|
|
|
NM_000314.8(PTEN):c.433T>A (p.Phe145Ile)
|
|
|
NM_000314.8(PTEN):c.433T>G (p.Phe145Val)
|
|
|
NM_000314.8(PTEN):c.433_436delinsGGG (p.Phe145fs)
|
|
|
NM_000314.8(PTEN):c.433_437delinsAGGG (p.Phe145fs)
|
|
|
NM_000314.8(PTEN):c.435_436inv (p.Phe145_Leu146delinsLeuIle)
|
|
|
NM_000314.8(PTEN):c.435delinsCA (p.Leu146fs)
|
|
|
NM_000314.8(PTEN):c.437_438del (p.Phe145_Leu146insTer)
|
|
|
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
|
|
|
NM_000314.8(PTEN):c.438_439delinsGG (p.Lys147Glu)
|
|
|
NM_000314.8(PTEN):c.439_440insG (p.Lys147fs)
|
|
|
NM_000314.8(PTEN):c.440del (p.Lys147fs)
|
rs2132243722
|
|
NM_000314.8(PTEN):c.442_443insAGC (p.Ala148delinsGluPro)
|
|
|
NM_000314.8(PTEN):c.442del (p.Ala148fs)
|
|
|
NM_000314.8(PTEN):c.443del (p.Ala148fs)
|
|
|
NM_000314.8(PTEN):c.445del (p.Gln149fs)
|
|
|
NM_000314.8(PTEN):c.448G>A (p.Glu150Lys)
|
|
|
NM_000314.8(PTEN):c.448del (p.Glu150fs)
|
|
|
NM_000314.8(PTEN):c.44dup (p.Tyr16fs)
|
rs1564801750
|
|
NM_000314.8(PTEN):c.450G>A (p.Glu150=)
|
rs757777398
|
|
NM_000314.8(PTEN):c.454C>G (p.Leu152Val)
|
|
|
NM_000314.8(PTEN):c.454del (p.Ala151_Leu152insTer)
|
|
|
NM_000314.8(PTEN):c.456del (p.Asp153fs)
|
|
|
NM_000314.8(PTEN):c.457del (p.Asp153fs)
|
|
|
NM_000314.8(PTEN):c.459T>A (p.Asp153Glu)
|
|
|
NM_000314.8(PTEN):c.460_461dup (p.Tyr155fs)
|
rs1564830444
|
|
NM_000314.8(PTEN):c.461_462insTC (p.Tyr155fs)
|
|
|
NM_000314.8(PTEN):c.461del (p.Phe154fs)
|
|
|
NM_000314.8(PTEN):c.462C>A (p.Phe154Leu)
|
|
|
NM_000314.8(PTEN):c.462C>T (p.Phe154=)
|
rs1859982800
|
|
NM_000314.8(PTEN):c.462dup (p.Tyr155fs)
|
|
|
NM_000314.8(PTEN):c.463del (p.Tyr155fs)
|
rs2132243942
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.465dup (p.Gly156fs)
|
|
|
NM_000314.8(PTEN):c.469_470del (p.Glu157fs)
|
|
|
NM_000314.8(PTEN):c.469_470insT (p.Glu157fs)
|
|
|
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
|
|
|
NM_000314.8(PTEN):c.472_474delinsAGG (p.Val158Arg)
|
|
|
NM_000314.8(PTEN):c.473T>C (p.Val158Ala)
|
|
|
NM_000314.8(PTEN):c.473del (p.Val158fs)
|
|
|
NM_000314.8(PTEN):c.475del (p.Arg159fs)
|
|
|
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys)
|
rs1114167673
|
|
NM_000314.8(PTEN):c.478_479delinsGA (p.Thr160Asp)
|
|
|
NM_000314.8(PTEN):c.480C>A (p.Thr160=)
|
|
|
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
|
|
|
NM_000314.8(PTEN):c.481A>G (p.Arg161Gly)
|
|
|
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)
|
rs786202753
|
|
NM_000314.8(PTEN):c.491A>G (p.Lys164Arg)
|
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
NM_000314.8(PTEN):c.492+23del
|
|
|
NM_000314.8(PTEN):c.492+28T>C
|
|
|
NM_000314.8(PTEN):c.492+34T>C
|
|
|
NM_000314.8(PTEN):c.492+5del
|
|
|
NM_000314.8(PTEN):c.492+7del
|
|
|
NM_000314.8(PTEN):c.493-1856_493-1854delinsTGG
|
|
|
NM_000314.8(PTEN):c.493-1G>A
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-3148_493-1857del
|
|
|
NM_000314.8(PTEN):c.493-3C>T
|
|
|
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile)
|
rs876660507
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu)
|
rs121913294
|
|
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)
|
rs606231170
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
NM_000314.8(PTEN):c.626del (p.Gly209fs)
|
rs1564838034
|
|
NM_000314.8(PTEN):c.634+14A>G
|
rs762694325
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
NM_000314.8(PTEN):c.70G>C (p.Asp24His)
|
rs786201995
|
|
NM_000314.8(PTEN):c.715del (p.Met239fs)
|
rs1564566861
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.742C>T (p.Pro248Ser)
|
rs1564566931
|
|
NM_000314.8(PTEN):c.761_765del (p.Lys254fs)
|
rs606231169
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)
|
rs146650273
|
|
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
|
|
|
NM_000314.8(PTEN):c.966A>G (p.Lys322=)
|
rs786201392
|
|