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.289C>T (p.Gln97Ter)
|
rs786204928
|
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.523G>A (p.Val175Met)
|
rs1860417734
|
0.00001
|
NM_000314.8(PTEN):c.586del (p.His196fs)
|
rs587776670
|
0.00001
|
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)
|
rs786204853
|
0.00001
|
NM_000314.8(PTEN):c.79+7A>G
|
rs374331677
|
0.00001
|
C124S
|
|
|
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
|
|
|
NC_000010.10:g.(89712017_89717609)_(89731688_?)del
|
|
|
NC_000010.10:g.(?_89624218)_(89624340_?)del
|
|
|
NC_000010.10:g.(?_89653772)_(89693018_?)del
|
|
|
NC_000010.10:g.(?_89671794)_(89711969_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89685324_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89693018_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89725321_?)del
|
|
|
NC_000010.10:g.(?_89690793)_(89693018_?)del
|
|
|
NC_000010.10:g.(?_89692750)_(89693028_?)del
|
|
|
NC_000010.10:g.(?_89692750)_(89712036_?)del
|
|
|
NC_000010.10:g.(?_89717600)_(89717786_?)del
|
|
|
NC_000010.10:g.(?_89717600)_(89720885_?)del
|
|
|
NC_000010.10:g.(?_89720519)_(89720783_?)del
|
|
|
NC_000010.10:g.(?_89720641)_(89725321_?)del
|
|
|
NC_000010.10:g.89711945_89711946insAlu
|
|
|
NC_000010.11:g.(?_87894015)_(87894119_?)del
|
|
|
NC_000010.11:g.(?_87894025)_(87894109_?)del
|
|
|
NC_000010.11:g.(?_87925503)_(87965482_?)del
|
|
|
NC_000010.11:g.(?_87931026)_(87958039_?)del
|
|
|
NC_000010.11:g.(?_87931036)_(87931099_?)del
|
|
|
NC_000010.11:g.(?_87931040)_(87933257_?)del
|
|
|
NC_000010.11:g.(?_87952108)_(87952269_?)del
|
|
|
NC_000010.11:g.(?_87952112)_(87952265_?)del
|
|
|
NC_000010.11:g.(?_87960884)_(87961128_?)del
|
|
|
NC_000010.11:g.(?_87960888)_(87961124_?)del
|
|
|
NC_000010.11:g.87952119del
|
rs2132268865
|
|
NC_000010.11:g.87957853_87957860del
|
|
|
NM_000314.4:c.419_420insALU
|
|
|
NM_000314.6(PTEN):c.80-?_492+?del
|
|
|
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
|
rs587776672
|
|
NM_000314.8(PTEN):c.-312_18del (p.Met1_Lys6del)
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1003_1019del (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1003del (p.Arg335fs)
|
rs1860633095
|
|
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln)
|
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.1010_1014del (p.Phe337fs)
|
|
|
NM_000314.8(PTEN):c.1012del (p.Ser338fs)
|
rs1564568660
|
|
NM_000314.8(PTEN):c.1012dup (p.Ser338fs)
|
|
|
NM_000314.8(PTEN):c.1013del (p.Ser338fs)
|
rs1860634226
|
|
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.1026+1G>T
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+2T>G
|
rs1114167624
|
|
NM_000314.8(PTEN):c.1027-1G>A
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-1G>C
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-2A>C
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-2A>G
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1030A>T (p.Lys344Ter)
|
|
|
NM_000314.8(PTEN):c.1032_1033insAC (p.Leu345fs)
|
rs1860732201
|
|
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.1048dup (p.Thr350fs)
|
rs797045066
|
|
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)
|
rs121909225
|
|
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg)
|
rs786202517
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106G>T (p.Gly36Ter)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106_109del (p.Gly36fs)
|
rs2132187310
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.107del (p.Gly36fs)
|
|
|
NM_000314.8(PTEN):c.1102del (p.Asp368fs)
|
|
|
NM_000314.8(PTEN):c.110_111del (p.Phe37fs)
|
rs1114167636
|
|
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)
|
rs1554826049
|
|
NM_000314.8(PTEN):c.1118_1122dup (p.Asp375fs)
|
|
|
NM_000314.8(PTEN):c.111del (p.Pro38fs)
|
|
|
NM_000314.8(PTEN):c.111dup (p.Pro38fs)
|
rs1114167636
|
|
NM_000314.8(PTEN):c.113C>T (p.Pro38Leu)
|
rs1064796886
|
|
NM_000314.8(PTEN):c.117del (p.Glu40fs)
|
rs786204895
|
|
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter)
|
rs869312778
|
|
NM_000314.8(PTEN):c.1212A>C (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)
|
|
|
NM_000314.8(PTEN):c.122_135del (p.Arg41fs)
|
|
|
NM_000314.8(PTEN):c.127G>T (p.Glu43Ter)
|
rs1554893808
|
|
NM_000314.8(PTEN):c.127dup (p.Glu43fs)
|
rs1554893810
|
|
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)
|
rs1085308042
|
|
NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs)
|
rs786202894
|
|
NM_000314.8(PTEN):c.131dup (p.Val45fs)
|
rs1564814541
|
|
NM_000314.8(PTEN):c.132dup (p.Val45fs)
|
rs878853933
|
|
NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter)
|
rs1114167672
|
|
NM_000314.8(PTEN):c.138C>G (p.Tyr46Ter)
|
|
|
NM_000314.8(PTEN):c.139A>G (p.Arg47Gly)
|
rs786204855
|
|
NM_000314.8(PTEN):c.13_14insC (p.Ile5fs)
|
rs2132145444
|
|
NM_000314.8(PTEN):c.13del (p.Ile5fs)
|
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
NM_000314.8(PTEN):c.141_142inv (p.Arg47_Asn48delinsSerHis)
|
|
|
NM_000314.8(PTEN):c.141_160dup (p.Val54delinsGlyThrIleLeuMetMetTer)
|
rs2132187641
|
|
NM_000314.8(PTEN):c.141del (p.Asn48fs)
|
rs1114167670
|
|
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.149T>C (p.Ile50Thr)
|
rs1554893824
|
|
NM_000314.8(PTEN):c.150del (p.Ile50fs)
|
rs1859099242
|
|
NM_000314.8(PTEN):c.157del (p.Asp52_Val53insTer)
|
|
|
NM_000314.8(PTEN):c.157delinsTA (p.Val53fs)
|
|
|
NM_000314.8(PTEN):c.158_162dup (p.Arg55Ter)
|
rs2132187838
|
|
NM_000314.8(PTEN):c.159_163del (p.Arg55fs)
|
rs2132187850
|
|
NM_000314.8(PTEN):c.161dup (p.Arg55fs)
|
|
|
NM_000314.8(PTEN):c.163del (p.Arg55fs)
|
|
|
NM_000314.8(PTEN):c.164+1G>A
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>C
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>T
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1_164+5del
|
rs1859100502
|
|
NM_000314.8(PTEN):c.164+1_164+9delinsTTAC
|
|
|
NM_000314.8(PTEN):c.164+2T>A
|
|
|
NM_000314.8(PTEN):c.164+2T>G
|
rs1337554479
|
|
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>C
|
|
|
NM_000314.8(PTEN):c.165-2A>G
|
rs1085308043
|
|
NM_000314.8(PTEN):c.165-2A>T
|
|
|
NM_000314.8(PTEN):c.165-3_165del
|
rs1554897249
|
|
NM_000314.8(PTEN):c.166_167delinsA (p.Phe56fs)
|
rs1114167681
|
|
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)
|
rs1589596143
|
|
NM_000314.8(PTEN):c.170T>A (p.Leu57Ter)
|
rs786202398
|
|
NM_000314.8(PTEN):c.170_185del (p.Phe56_Leu57insTer)
|
|
|
NM_000314.8(PTEN):c.170del (p.Leu57fs)
|
|
|
NM_000314.8(PTEN):c.170dup (p.Leu57fs)
|
|
|
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.176del (p.Asp58_Ser59insTer)
|
rs1859802811
|
|
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)
|
rs1554897262
|
|
NM_000314.8(PTEN):c.179del (p.Lys60fs)
|
rs1114167671
|
|
NM_000314.8(PTEN):c.17_18del (p.Lys6fs)
|
rs121913290
|
|
NM_000314.8(PTEN):c.17_20dup (p.Ile8fs)
|
rs2132145483
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter)
|
rs1564826779
|
|
NM_000314.8(PTEN):c.188del (p.Asn63fs)
|
rs1554897267
|
|
NM_000314.8(PTEN):c.188dup (p.Asn63fs)
|
|
|
NM_000314.8(PTEN):c.18dup (p.Glu7fs)
|
rs121913290
|
|
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
|
|
|
NM_000314.8(PTEN):c.194del (p.Tyr65fs)
|
rs1859804141
|
|
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.195del (p.His64_Tyr65insTer)
|
rs1589640495
|
|
NM_000314.8(PTEN):c.197dup (p.Ile67fs)
|
|
|
NM_000314.8(PTEN):c.199del (p.Ile67fs)
|
rs1114167669
|
|
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.200dup (p.Tyr68fs)
|
rs1060500113
|
|
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>A (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.206del (p.Asn69fs)
|
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+1G>C
|
|
|
NM_000314.8(PTEN):c.209+1G>T
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+1_209+2del
|
rs1564826836
|
|
NM_000314.8(PTEN):c.209+2T>A
|
rs878853937
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
NM_000314.8(PTEN):c.209+4A>C
|
|
|
NM_000314.8(PTEN):c.209+4A>G
|
rs2132232446
|
|
NM_000314.8(PTEN):c.209+4_209+7del
|
rs398123318
|
|
NM_000314.8(PTEN):c.209+5G>A
|
rs1114167650
|
|
NM_000314.8(PTEN):c.209+6T>A
|
|
|
NM_000314.8(PTEN):c.209+6T>G
|
rs1554897282
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
NM_000314.8(PTEN):c.20_23dup (p.Val9fs)
|
|
|
NM_000314.8(PTEN):c.210-1G>A
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>G
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>T
|
|
|
NM_000314.8(PTEN):c.210-2_211del
|
rs1554897854
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.211delT (p.Cys71fs)
|
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.216_219dup (p.Arg74Ter)
|
|
|
NM_000314.8(PTEN):c.218_221delinsTCA (p.Glu73fs)
|
|
|
NM_000314.8(PTEN):c.219_220dup (p.Arg74fs)
|
rs1114167677
|
|
NM_000314.8(PTEN):c.219_222dup (p.His75fs)
|
rs786204898
|
|
NM_000314.8(PTEN):c.219_253+46del
|
|
|
NM_000314.8(PTEN):c.21_22del (p.Glu7fs)
|
rs786204881
|
|
NM_000314.8(PTEN):c.21_37del (p.Ile8fs)
|
rs786204882
|
|
NM_000314.8(PTEN):c.220A>T (p.Arg74Ter)
|
rs1554897861
|
|
NM_000314.8(PTEN):c.223_227dup (p.Asp77fs)
|
|
|
NM_000314.8(PTEN):c.224_225del (p.His75fs)
|
rs1859920352
|
|
NM_000314.8(PTEN):c.224_233del (p.His75fs)
|
rs2132238787
|
|
NM_000314.8(PTEN):c.225_226insG (p.Tyr76fs)
|
|
|
NM_000314.8(PTEN):c.225_238del (p.His75fs)
|
|
|
NM_000314.8(PTEN):c.226del (p.Tyr76fs)
|
rs1564828960
|
|
NM_000314.8(PTEN):c.226dup (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.228dup (p.Asp77Ter)
|
rs1589644721
|
|
NM_000314.8(PTEN):c.232_233del (p.Thr78fs)
|
|
|
NM_000314.8(PTEN):c.232del (p.Thr78fs)
|
|
|
NM_000314.8(PTEN):c.234del (p.Ala79fs)
|
|
|
NM_000314.8(PTEN):c.235_236del (p.Ala79fs)
|
rs1859921286
|
|
NM_000314.8(PTEN):c.240del (p.Lys80fs)
|
|
|
NM_000314.8(PTEN):c.243T>G (p.Phe81Leu)
|
|
|
NM_000314.8(PTEN):c.243_245delinsAT (p.Phe81fs)
|
|
|
NM_000314.8(PTEN):c.247del (p.Cys83fs)
|
|
|
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter)
|
rs1554897879
|
|
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+1dup
|
rs876660082
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
NM_000314.8(PTEN):c.253+5G>A
|
rs1554897889
|
|
NM_000314.8(PTEN):c.253+5G>T
|
rs1554897889
|
|
NM_000314.8(PTEN):c.255_262del (p.Ala86fs)
|
|
|
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)
|
rs1554898053
|
|
NM_000314.8(PTEN):c.260_261dup (p.Tyr88fs)
|
rs1114167637
|
|
NM_000314.8(PTEN):c.261del (p.Gln87fs)
|
rs1114167637
|
|
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.265_266del (p.Pro89fs)
|
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.270dup (p.Glu91Ter)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)
|
|
|
NM_000314.8(PTEN):c.271del (p.Glu91fs)
|
rs1114167668
|
|
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
|
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer)
|
rs1554898071
|
|
NM_000314.8(PTEN):c.277del (p.His93fs)
|
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.281del (p.Asn94fs)
|
|
|
NM_000314.8(PTEN):c.281dup (p.Asn94fs)
|
|
|
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu)
|
rs786204856
|
|
NM_000314.8(PTEN):c.285_286insAA (p.Pro96fs)
|
rs1554898073
|
|
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.293T>G (p.Leu98Arg)
|
rs781647403
|
|
NM_000314.8(PTEN):c.296_297del (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.300dup (p.Ile101fs)
|
rs1554898083
|
|
NM_000314.8(PTEN):c.301_310del (p.Ile101fs)
|
|
|
NM_000314.8(PTEN):c.301_311del (p.Ile101fs)
|
rs1589646106
|
|
NM_000314.8(PTEN):c.301del (p.Ile101fs)
|
rs2132242363
|
|
NM_000314.8(PTEN):c.301dup (p.Ile101fs)
|
rs1554898084
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.302_304delinsCC (p.Ile101fs)
|
|
|
NM_000314.8(PTEN):c.304A>T (p.Lys102Ter)
|
rs786202944
|
|
NM_000314.8(PTEN):c.304_307dup (p.Pro103fs)
|
rs2132242380
|
|
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)
|
rs1554898085
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
NM_000314.8(PTEN):c.309del (p.Cys105fs)
|
rs1554898088
|
|
NM_000314.8(PTEN):c.312_316del (p.Phe104fs)
|
|
|
NM_000314.8(PTEN):c.313del (p.Cys105fs)
|
rs1859969176
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.314dup (p.Cys105fs)
|
|
|
NM_000314.8(PTEN):c.315_316dup (p.Glu106fs)
|
rs1554898090
|
|
NM_000314.8(PTEN):c.315del (p.Cys105fs)
|
rs1114167626
|
|
NM_000314.8(PTEN):c.315dup (p.Glu106Ter)
|
rs1554898091
|
|
NM_000314.8(PTEN):c.316G>T (p.Glu106Ter)
|
rs1085308039
|
|
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)
|
rs57374291
|
|
NM_000314.8(PTEN):c.319del (p.Asp107fs)
|
|
|
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)
|
|
|
NM_000314.8(PTEN):c.31del (p.Arg11fs)
|
|
|
NM_000314.8(PTEN):c.320A>T (p.Asp107Val)
|
rs786204858
|
|
NM_000314.8(PTEN):c.321del (p.Asp109fs)
|
rs786204899
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000314.8(PTEN):c.324del (p.Asp109fs)
|
|
|
NM_000314.8(PTEN):c.325_328delinsTT (p.Asp109fs)
|
|
|
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)
|
rs1114167629
|
|
NM_000314.8(PTEN):c.330_331insG (p.Trp111fs)
|
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
|
|
|
NM_000314.8(PTEN):c.332_333insT (p.Trp111fs)
|
rs1589646225
|
|
NM_000314.8(PTEN):c.332_336delinsCTTCAC (p.Trp111fs)
|
|
|
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter)
|
rs1554898097
|
|
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro)
|
rs121909230
|
|
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)
|
|
|
NM_000314.8(PTEN):c.338G>T (p.Ser113Ile)
|
rs587781254
|
|
NM_000314.8(PTEN):c.338_391del (p.Ser113_Arg130del)
|
|
|
NM_000314.8(PTEN):c.339_343del (p.Ser113fs)
|
|
|
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)
|
|
|
NM_000314.8(PTEN):c.346_358dup (p.Ala120fs)
|
rs1064792910
|
|
NM_000314.8(PTEN):c.347_351del (p.Asp116fs)
|
rs587776666
|
|
NM_000314.8(PTEN):c.348_349dup (p.Asn117fs)
|
|
|
NM_000314.8(PTEN):c.350_353del (p.Asn117fs)
|
rs1564830070
|
|
NM_000314.8(PTEN):c.351_352del (p.Asn117fs)
|
|
|
NM_000314.8(PTEN):c.352_353delinsG (p.His118fs)
|
|
|
NM_000314.8(PTEN):c.354del (p.His118fs)
|
|
|
NM_000314.8(PTEN):c.357_359delinsAT (p.Val119_Ala120insTer)
|
|
|
NM_000314.8(PTEN):c.358dup (p.Ala120fs)
|
rs1859973156
|
|
NM_000314.8(PTEN):c.359dup (p.Ala121fs)
|
rs1589646309
|
|
NM_000314.8(PTEN):c.35A>C (p.Asn12Thr)
|
rs1085308044
|
|
NM_000314.8(PTEN):c.35del (p.Asn12fs)
|
|
|
NM_000314.8(PTEN):c.35dup (p.Asn12fs)
|
|
|
NM_000314.8(PTEN):c.364dup (p.Ile122fs)
|
|
|
NM_000314.8(PTEN):c.366_370dup (p.Cys124fs)
|
|
|
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.369C>G (p.His123Gln)
|
rs1085308045
|
|
NM_000314.8(PTEN):c.36del (p.Asn12fs)
|
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)
|
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.373A>T (p.Lys125Ter)
|
|
|
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.376_377del (p.Ala126fs)
|
rs1114167659
|
|
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>T (p.Gly127Ter)
|
rs587781255
|
|
NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)
|
rs1554890348
|
|
NM_000314.8(PTEN):c.380delinsAA (p.Gly127fs)
|
|
|
NM_000314.8(PTEN):c.383A>G (p.Lys128Arg)
|
rs1859975512
|
|
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.385G>T (p.Gly129Ter)
|
|
|
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>C (p.Arg130Pro)
|
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.38_51del (p.Lys13fs)
|
rs2132145679
|
|
NM_000314.8(PTEN):c.392C>A (p.Thr131Asn)
|
|
|
NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)
|
rs397514560
|
|
NM_000314.8(PTEN):c.392del (p.Thr131fs)
|
|
|
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.397G>A (p.Val133Ile)
|
rs1859977307
|
|
NM_000314.8(PTEN):c.397del (p.Gly132_Val133insTer)
|
|
|
NM_000314.8(PTEN):c.397delinsTA (p.Val133fs)
|
rs1859977388
|
|
NM_000314.8(PTEN):c.399_403del (p.Ile135fs)
|
rs1554898150
|
|
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.39_40dup (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.39_40insT (p.Arg14Ter)
|
|
|
NM_000314.8(PTEN):c.39_41del (p.Arg15del)
|
rs1114167625
|
|
NM_000314.8(PTEN):c.39_51del (p.Arg15fs)
|
rs2132145655
|
|
NM_000314.8(PTEN):c.3G>A (p.Met1Ile)
|
rs2132145343
|
|
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.404T>A (p.Ile135Lys)
|
rs370795352
|
|
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
|
|
|
NM_000314.8(PTEN):c.405_406del (p.Ile135fs)
|
|
|
NM_000314.8(PTEN):c.405del (p.Cys136fs)
|
|
|
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.407G>T (p.Cys136Phe)
|
|
|
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.412dup (p.Tyr138fs)
|
|
|
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter)
|
rs1554898161
|
|
NM_000314.8(PTEN):c.415_416del (p.Leu139fs)
|
|
|
NM_000314.8(PTEN):c.416T>G (p.Leu139Ter)
|
rs1085308048
|
|
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.420dup (p.His141fs)
|
rs1085308050
|
|
NM_000314.8(PTEN):c.421_422del (p.His141fs)
|
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
NM_000314.8(PTEN):c.424del (p.Arg142fs)
|
rs869312779
|
|
NM_000314.8(PTEN):c.428del (p.Gly143fs)
|
rs2132243612
|
|
NM_000314.8(PTEN):c.428dup (p.Lys144fs)
|
rs2132243612
|
|
NM_000314.8(PTEN):c.42del (p.Arg15fs)
|
rs786202786
|
|
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
NM_000314.8(PTEN):c.432del (p.Lys144fs)
|
rs1114167657
|
|
NM_000314.8(PTEN):c.432dup (p.Phe145fs)
|
|
|
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
|
|
|
NM_000314.8(PTEN):c.436_437insG (p.Leu146fs)
|
|
|
NM_000314.8(PTEN):c.437T>A (p.Leu146Ter)
|
rs786204933
|
|
NM_000314.8(PTEN):c.437T>G (p.Leu146Ter)
|
rs786204933
|
|
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2132243547
|
|
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000314.8(PTEN):c.437del (p.Phe145_Leu146insTer)
|
rs1114167627
|
|
NM_000314.8(PTEN):c.437dup (p.Leu146fs)
|
|
|
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)
|
rs2132145750
|
|
NM_000314.8(PTEN):c.440del (p.Lys147fs)
|
rs2132243722
|
|
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs)
|
rs1114167641
|
|
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.447del (p.Glu150fs)
|
rs1554898188
|
|
NM_000314.8(PTEN):c.447dup (p.Glu150fs)
|
|
|
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)
|
rs786204934
|
|
NM_000314.8(PTEN):c.448_461del (p.Glu150fs)
|
|
|
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.44_45del (p.Arg15fs)
|
rs1057524874
|
|
NM_000314.8(PTEN):c.44_45delinsT (p.Arg15fs)
|
|
|
NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs)
|
rs1057524874
|
|
NM_000314.8(PTEN):c.44_56del (p.Arg15fs)
|
|
|
NM_000314.8(PTEN):c.451_484del (p.Ala151fs)
|
|
|
NM_000314.8(PTEN):c.451del (p.Ala151fs)
|
|
|
NM_000314.8(PTEN):c.454_469del (p.Leu152fs)
|
|
|
NM_000314.8(PTEN):c.458_461del (p.Asp153fs)
|
rs876658304
|
|
NM_000314.8(PTEN):c.458dup (p.Asp153fs)
|
|
|
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.461del (p.Phe154fs)
|
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
NM_000314.8(PTEN):c.463del (p.Tyr155fs)
|
rs2132243942
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.465T>A (p.Tyr155Ter)
|
rs1554898206
|
|
NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter)
|
rs1554898206
|
|
NM_000314.8(PTEN):c.468_469dup (p.Glu157fs)
|
|
|
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)
|
rs121909220
|
|
NM_000314.8(PTEN):c.469del (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.469dup (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.46dup (p.Tyr16fs)
|
rs786204883
|
|
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly)
|
rs1085308051
|
|
NM_000314.8(PTEN):c.472_473del (p.Val158fs)
|
|
|
NM_000314.8(PTEN):c.472delinsAT (p.Val158fs)
|
|
|
NM_000314.8(PTEN):c.473_478delinsCAAAGGC (p.Val158fs)
|
rs1859983725
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.475A>T (p.Arg159Trp)
|
|
|
NM_000314.8(PTEN):c.475_479del (p.Arg159fs)
|
|
|
NM_000314.8(PTEN):c.475delinsCTT (p.Arg159fs)
|
|
|
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter)
|
rs876661009
|
|
NM_000314.8(PTEN):c.481del (p.Arg161fs)
|
|
|
NM_000314.8(PTEN):c.483_492del (p.Asp162fs)
|
|
|
NM_000314.8(PTEN):c.483del (p.Asp162fs)
|
|
|
NM_000314.8(PTEN):c.485_487delinsCC (p.Asp162fs)
|
rs1554898231
|
|
NM_000314.8(PTEN):c.486_487del (p.Asp162fs)
|
rs1554898231
|
|
NM_000314.8(PTEN):c.486del (p.Asp162fs)
|
|
|
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.48_49delinsAT (p.Tyr16_Gln17delinsTer)
|
|
|
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>C
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
NM_000314.8(PTEN):c.492+2T>G
|
rs1554898244
|
|
NM_000314.8(PTEN):c.493-1G>A
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-1G>C
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-1G>T
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-20_497del
|
|
|
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.493-6_511del
|
|
|
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.494G>T (p.Gly165Val)
|
rs786204863
|
|
NM_000314.8(PTEN):c.497_501dup (p.Ile168Ter)
|
|
|
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)
|
rs1210737543
|
|
NM_000314.8(PTEN):c.499del (p.Thr167fs)
|
|
|
NM_000314.8(PTEN):c.499dup (p.Thr167fs)
|
|
|
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)
|
rs786204910
|
|
NM_000314.8(PTEN):c.49_61dup (p.Phe21fs)
|
rs2132145816
|
|
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)
|
rs397514559
|
|
NM_000314.8(PTEN):c.502_503del (p.Ile168fs)
|
rs2132268956
|
|
NM_000314.8(PTEN):c.502del (p.Ile168fs)
|
rs1114167631
|
|
NM_000314.8(PTEN):c.503_539del (p.Ile168fs)
|
|
|
NM_000314.8(PTEN):c.504_522del (p.Ile168fs)
|
|
|
NM_000314.8(PTEN):c.505_506insAGTTACT (p.Pro169fs)
|
|
|
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>T (p.Ser170Ile)
|
rs876660507
|
|
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.511dup (p.Gln171fs)
|
rs2132269032
|
|
NM_000314.8(PTEN):c.512_515del (p.Gln171fs)
|
rs1114167635
|
|
NM_000314.8(PTEN):c.512del (p.Gln171fs)
|
|
|
NM_000314.8(PTEN):c.512dup (p.Arg172fs)
|
rs1114167632
|
|
NM_000314.8(PTEN):c.514_515del (p.Arg172fs)
|
rs1564837778
|
|
NM_000314.8(PTEN):c.517_523del (p.Arg173fs)
|
|
|
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)
|
rs121913294
|
|
NM_000314.8(PTEN):c.518_519dup (p.Tyr174fs)
|
|
|
NM_000314.8(PTEN):c.51dup (p.Glu18fs)
|
|
|
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn)
|
rs587782316
|
|
NM_000314.8(PTEN):c.520dup (p.Tyr174fs)
|
rs1085308052
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.522T>A (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.525del (p.Tyr176fs)
|
rs1554900566
|
|
NM_000314.8(PTEN):c.528_529dup (p.Tyr177fs)
|
|
|
NM_000314.8(PTEN):c.528_535del (p.Tyr176_Ser179delinsTer)
|
|
|
NM_000314.8(PTEN):c.529dup (p.Tyr177fs)
|
|
|
NM_000314.8(PTEN):c.52G>T (p.Glu18Ter)
|
|
|
NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter)
|
rs878853012
|
|
NM_000314.8(PTEN):c.532_535dup (p.Ser179delinsIleTer)
|
|
|
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer)
|
rs397515374
|
|
NM_000314.8(PTEN):c.536_539dup (p.Tyr180Ter)
|
rs2132269250
|
|
NM_000314.8(PTEN):c.537_538del (p.Ser179fs)
|
|
|
NM_000314.8(PTEN):c.537_540delinsTTAAAGAATCATCTGGATTAGGGTTAAAACCCAGATTAGGGTTAAATCATCTGGATTAGGGTTAAT (p.Tyr180Ter)
|
|
|
NM_000314.8(PTEN):c.53del (p.Glu18fs)
|
rs878853940
|
|
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
|
|
|
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)
|
rs786202733
|
|
NM_000314.8(PTEN):c.540_541delinsGT (p.Tyr180_Leu181delinsTer)
|
rs1554900587
|
|
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>A (p.Leu182Ter)
|
rs794729664
|
|
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)
|
rs794729664
|
|
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter)
|
rs794729664
|
|
NM_000314.8(PTEN):c.545_564del (p.Leu181_Leu182insTer)
|
|
|
NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer)
|
|
|
NM_000314.8(PTEN):c.545dup (p.Leu182fs)
|
rs878853941
|
|
NM_000314.8(PTEN):c.546_547insCA (p.Lys183fs)
|
rs2132269329
|
|
NM_000314.8(PTEN):c.546_547insT (p.Lys183Ter)
|
|
|
NM_000314.8(PTEN):c.547_548del (p.Lys183fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer)
|
rs786204890
|
|
NM_000314.8(PTEN):c.548_551del (p.Lys183fs)
|
rs1564837868
|
|
NM_000314.8(PTEN):c.548del (p.Lys183fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.548dup (p.Asn184fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.549_550dup (p.Asn184fs)
|
rs1554900599
|
|
NM_000314.8(PTEN):c.551_560del (p.Asn184fs)
|
|
|
NM_000314.8(PTEN):c.551del (p.Asn184fs)
|
rs1554900606
|
|
NM_000314.8(PTEN):c.553dup (p.His185fs)
|
|
|
NM_000314.8(PTEN):c.556_557del (p.Leu186fs)
|
rs1114167652
|
|
NM_000314.8(PTEN):c.55_70del (p.Asp19fs)
|
|
|
NM_000314.8(PTEN):c.55dup (p.Asp19fs)
|
|
|
NM_000314.8(PTEN):c.561_567del (p.Tyr188fs)
|
rs2132269476
|
|
NM_000314.8(PTEN):c.561_634+54del
|
|
|
NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA (p.Tyr188fs)
|
rs2132269496
|
|
NM_000314.8(PTEN):c.564T>G (p.Tyr188Ter)
|
rs606231170
|
|
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)
|
rs1554900615
|
|
NM_000314.8(PTEN):c.569_572dup (p.Ala192fs)
|
|
|
NM_000314.8(PTEN):c.569del (p.Pro190fs)
|
|
|
NM_000314.8(PTEN):c.569dup (p.Val191fs)
|
|
|
NM_000314.8(PTEN):c.56A>T (p.Asp19Val)
|
|
|
NM_000314.8(PTEN):c.570dup (p.Val191fs)
|
|
|
NM_000314.8(PTEN):c.571del (p.Val191fs)
|
|
|
NM_000314.8(PTEN):c.57dup (p.Gly20fs)
|
|
|
NM_000314.8(PTEN):c.581T>A (p.Leu194Ter)
|
|
|
NM_000314.8(PTEN):c.581del (p.Leu194fs)
|
|
|
NM_000314.8(PTEN):c.583_586del (p.Phe195fs)
|
|
|
NM_000314.8(PTEN):c.585del (p.His196fs)
|
rs786204901
|
|
NM_000314.8(PTEN):c.585dup (p.His196fs)
|
rs786204901
|
|
NM_000314.8(PTEN):c.586dup (p.His196fs)
|
|
|
NM_000314.8(PTEN):c.58_61del (p.Gly20fs)
|
|
|
NM_000314.8(PTEN):c.590del (p.Lys197fs)
|
rs2132269684
|
|
NM_000314.8(PTEN):c.591_614delinsTA (p.Lys197fs)
|
|
|
NM_000314.8(PTEN):c.597_599del (p.Met199_Phe200delinsIle)
|
rs1564837980
|
|
NM_000314.8(PTEN):c.599_600del (p.Met199_Phe200insTer)
|
|
|
NM_000314.8(PTEN):c.600del (p.Phe200fs)
|
|
|
NM_000314.8(PTEN):c.605C>T (p.Thr202Ile)
|
rs1085308053
|
|
NM_000314.8(PTEN):c.605_614del (p.Thr202fs)
|
|
|
NM_000314.8(PTEN):c.606_610dup (p.Pro204fs)
|
|
|
NM_000314.8(PTEN):c.607_608del (p.Ile203fs)
|
rs1085308054
|
|
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.610C>G (p.Pro204Ala)
|
rs786204868
|
|
NM_000314.8(PTEN):c.611del (p.Pro204fs)
|
|
|
NM_000314.8(PTEN):c.611dup (p.Met205fs)
|
|
|
NM_000314.8(PTEN):c.614del (p.Met205fs)
|
|
|
NM_000314.8(PTEN):c.615_633delinsCA (p.Met205fs)
|
rs1860425389
|
|
NM_000314.8(PTEN):c.617_621del (p.Phe206fs)
|
rs1085308055
|
|
NM_000314.8(PTEN):c.617del (p.Phe206fs)
|
|
|
NM_000314.8(PTEN):c.621_622insACTG (p.Gly208fs)
|
|
|
NM_000314.8(PTEN):c.623del (p.Gly208fs)
|
rs2132269945
|
|
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)
|
rs765433422
|
|
NM_000314.8(PTEN):c.626dup (p.Thr210fs)
|
|
|
NM_000314.8(PTEN):c.628del (p.Thr210fs)
|
rs2132270005
|
|
NM_000314.8(PTEN):c.629del (p.Thr210fs)
|
rs1060500114
|
|
NM_000314.8(PTEN):c.631dup (p.Cys211fs)
|
|
|
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.633C>G (p.Cys211Trp)
|
rs121909232
|
|
NM_000314.8(PTEN):c.634+1G>A
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+1G>C
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+1G>T
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+2T>A
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+2T>C
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+2T>G
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+4A>T
|
rs1554900675
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000314.8(PTEN):c.634+5G>C
|
rs138336847
|
|
NM_000314.8(PTEN):c.634_634+1del
|
|
|
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>C
|
rs1564566706
|
|
NM_000314.8(PTEN):c.635-2A>G
|
rs1564566706
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
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.641del (p.Gln214fs)
|
rs2132276430
|
|
NM_000314.8(PTEN):c.641dup (p.Phe215fs)
|
rs2132276426
|
|
NM_000314.8(PTEN):c.644_647del (p.Phe215fs)
|
|
|
NM_000314.8(PTEN):c.644_650del (p.Phe215fs)
|
rs2132276439
|
|
NM_000314.8(PTEN):c.645del (p.Phe215fs)
|
rs1589663146
|
|
NM_000314.8(PTEN):c.645dup (p.Val216fs)
|
rs1589663146
|
|
NM_000314.8(PTEN):c.646del (p.Val216fs)
|
rs1554825160
|
|
NM_000314.8(PTEN):c.647_648del (p.Val216fs)
|
|
|
NM_000314.8(PTEN):c.648_649insACCG (p.Val217fs)
|
|
|
NM_000314.8(PTEN):c.64dup (p.Asp22fs)
|
rs1858399718
|
|
NM_000314.8(PTEN):c.651del (p.Cys218fs)
|
|
|
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)
|
rs1554825165
|
|
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
|
|
|
NM_000314.8(PTEN):c.658_659dup (p.Leu220_Lys221insTer)
|
rs2132276566
|
|
NM_000314.8(PTEN):c.658del (p.Gln219_Leu220insTer)
|
|
|
NM_000314.8(PTEN):c.659_660dup (p.Lys221Ter)
|
rs2132276578
|
|
NM_000314.8(PTEN):c.659_665del (p.Leu220fs)
|
|
|
NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)
|
|
|
NM_000314.8(PTEN):c.661_683del (p.Lys221fs)
|
|
|
NM_000314.8(PTEN):c.662del (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.672_673insC (p.Tyr225fs)
|
rs2132276692
|
|
NM_000314.8(PTEN):c.672_675del (p.Tyr225fs)
|
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000314.8(PTEN):c.672dup (p.Tyr225fs)
|
rs2132276683
|
|
NM_000314.8(PTEN):c.674_675dup (p.Ser226fs)
|
rs2132276661
|
|
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.679_680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGCGGGGGGGGGGGGGGGTGGGGTGGGGGGGTGGGGGGGGGGGGGGGGGGGGCGGGGGTGAGGGAGAGGGAGAGGGAGAGGGAGAGCAGATATATTCCT (p.Ser227fs)
|
|
|
NM_000314.8(PTEN):c.685_686dup (p.Gly230fs)
|
rs1564566801
|
|
NM_000314.8(PTEN):c.685_688del (p.Ser229fs)
|
rs2132276818
|
|
NM_000314.8(PTEN):c.685del (p.Ser229fs)
|
|
|
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)
|
|
|
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter)
|
rs1214965807
|
|
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
|
|
|
NM_000314.8(PTEN):c.688_689dup (p.Pro231fs)
|
rs2132276853
|
|
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)
|
rs1589596407
|
|
NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer)
|
rs1554890400
|
|
NM_000314.8(PTEN):c.693del (p.Thr232fs)
|
rs1554825189
|
|
NM_000314.8(PTEN):c.694dup (p.Thr232fs)
|
|
|
NM_000314.8(PTEN):c.696del (p.Arg233fs)
|
rs587776669
|
|
NM_000314.8(PTEN):c.696dup (p.Arg233fs)
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.697dup (p.Arg233fs)
|
|
|
NM_000314.8(PTEN):c.698dup (p.Arg234fs)
|
|
|
NM_000314.8(PTEN):c.69_79delAGACTTGACCT (p.Asp24fs)
|
|
|
NM_000314.8(PTEN):c.69dup (p.Asp24fs)
|
rs1589596415
|
|
NM_000314.8(PTEN):c.700_709dup (p.Lys237fs)
|
|
|
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs)
|
rs1131691831
|
|
NM_000314.8(PTEN):c.702_706del (p.Glu235fs)
|
|
|
NM_000314.8(PTEN):c.703del (p.Glu235fs)
|
|
|
NM_000314.8(PTEN):c.705del (p.Asp236fs)
|
rs1554825202
|
|
NM_000314.8(PTEN):c.706dup (p.Asp236fs)
|
rs786202529
|
|
NM_000314.8(PTEN):c.709A>T (p.Lys237Ter)
|
rs2132277045
|
|
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn)
|
rs786201995
|
|
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.710dup (p.Phe238fs)
|
|
|
NM_000314.8(PTEN):c.711del (p.Lys237fs)
|
rs1860544511
|
|
NM_000314.8(PTEN):c.713del (p.Phe238fs)
|
|
|
NM_000314.8(PTEN):c.717_721del (p.Met239fs)
|
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)
|
|
|
NM_000314.8(PTEN):c.720C>G (p.Tyr240Ter)
|
rs190070312
|
|
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs)
|
rs1554825206
|
|
NM_000314.8(PTEN):c.720del (p.Phe241fs)
|
rs1589663374
|
|
NM_000314.8(PTEN):c.721_730del (p.Phe241fs)
|
rs2132277143
|
|
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)
|
rs121909240
|
|
NM_000314.8(PTEN):c.722_723del (p.Tyr240_Phe241insTer)
|
|
|
NM_000314.8(PTEN):c.722_723dup (p.Glu242fs)
|
rs1060500115
|
|
NM_000314.8(PTEN):c.722_723insGG (p.Phe241fs)
|
rs2132277178
|
|
NM_000314.8(PTEN):c.723_724dup (p.Glu242fs)
|
rs1554825209
|
|
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.727_730dup (p.Pro244fs)
|
|
|
NM_000314.8(PTEN):c.728del (p.Phe243fs)
|
|
|
NM_000314.8(PTEN):c.729_740del (p.Phe243_Pro246del)
|
|
|
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.738_739dup (p.Leu247fs)
|
rs1589663442
|
|
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.740T>A (p.Leu247Ter)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.740del (p.Leu247fs)
|
rs1114167662
|
|
NM_000314.8(PTEN):c.741_742dup (p.Pro248fs)
|
rs1554825222
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.743del (p.Pro248fs)
|
|
|
NM_000314.8(PTEN):c.748_749insCCAC (p.Cys250fs)
|
|
|
NM_000314.8(PTEN):c.748dup (p.Cys250fs)
|
|
|
NM_000314.8(PTEN):c.74T>C (p.Leu25Ser)
|
rs786204912
|
|
NM_000314.8(PTEN):c.74dup (p.Leu25fs)
|
rs1114167653
|
|
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter)
|
rs767623493
|
|
NM_000314.8(PTEN):c.750_751del (p.Cys250fs)
|
rs780264945
|
|
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs)
|
rs1860548195
|
|
NM_000314.8(PTEN):c.752del (p.Gly251fs)
|
|
|
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.757_758dup (p.Lys254fs)
|
rs878853942
|
|
NM_000314.8(PTEN):c.757dup (p.Ile253fs)
|
rs1114167661
|
|
NM_000314.8(PTEN):c.758_761del (p.Ile253fs)
|
rs786204903
|
|
NM_000314.8(PTEN):c.758_765del (p.Ile253fs)
|
|
|
NM_000314.8(PTEN):c.758_780dup (p.Gln261delinsSerLysTer)
|
|
|
NM_000314.8(PTEN):c.759del (p.Lys254_Val255insTer)
|
|
|
NM_000314.8(PTEN):c.75G>C (p.Leu25Phe)
|
rs786201506
|
|
NM_000314.8(PTEN):c.75_76del (p.Leu25fs)
|
|
|
NM_000314.8(PTEN):c.760A>T (p.Lys254Ter)
|
|
|
NM_000314.8(PTEN):c.763_764dup (p.Val255_Glu256insTer)
|
|
|
NM_000314.8(PTEN):c.764del (p.Val255fs)
|
|
|
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter)
|
rs121909228
|
|
NM_000314.8(PTEN):c.767_768del (p.Glu256fs)
|
rs869312780
|
|
NM_000314.8(PTEN):c.76A>C (p.Thr26Pro)
|
rs876661010
|
|
NM_000314.8(PTEN):c.771_772del (p.Phe258fs)
|
rs786204904
|
|
NM_000314.8(PTEN):c.772_773del (p.Phe258fs)
|
rs587781354
|
|
NM_000314.8(PTEN):c.780del (p.Lys260fs)
|
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
NM_000314.8(PTEN):c.783_784del (p.Asn262fs)
|
rs1554825249
|
|
NM_000314.8(PTEN):c.783del (p.Asn262fs)
|
rs1860551073
|
|
NM_000314.8(PTEN):c.784_785del (p.Asn262fs)
|
rs2132277720
|
|
NM_000314.8(PTEN):c.784_788del (p.Asn262fs)
|
|
|
NM_000314.8(PTEN):c.785dup (p.Asn262fs)
|
rs2132277715
|
|
NM_000314.8(PTEN):c.786_787del (p.Asn262fs)
|
|
|
NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)
|
|
|
NM_000314.8(PTEN):c.788del (p.Lys263fs)
|
|
|
NM_000314.8(PTEN):c.789del (p.Met264fs)
|
|
|
NM_000314.8(PTEN):c.78dup (p.Tyr27fs)
|
|
|
NM_000314.8(PTEN):c.790del (p.Met264fs)
|
|
|
NM_000314.8(PTEN):c.790dup (p.Met264fs)
|
|
|
NM_000314.8(PTEN):c.791_792dup (p.Leu265fs)
|
rs1114167646
|
|
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro)
|
rs1335033900
|
|
NM_000314.8(PTEN):c.795_801+1del
|
rs1589663644
|
|
NM_000314.8(PTEN):c.796A>T (p.Lys266Ter)
|
rs1554825260
|
|
NM_000314.8(PTEN):c.798_799inv (p.Lys266_Lys267delinsAsnTer)
|
|
|
NM_000314.8(PTEN):c.799_800del (p.Lys267fs)
|
|
|
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs)
|
rs1860552294
|
|
NM_000314.8(PTEN):c.79dup (p.Tyr27fs)
|
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
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+1G>C
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1G>T
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1del
|
rs1060500110
|
|
NM_000314.8(PTEN):c.801+2T>A
|
rs1114167665
|
|
NM_000314.8(PTEN):c.801+2T>C
|
rs1114167665
|
|
NM_000314.8(PTEN):c.801G>C (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.802-131_935del
|
rs1860608927
|
|
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.802-6_802-2delinsG
|
|
|
NM_000314.8(PTEN):c.806_831del (p.Lys269fs)
|
|
|
NM_000314.8(PTEN):c.808_809insACAA (p.Met270fs)
|
|
|
NM_000314.8(PTEN):c.808del (p.Met270fs)
|
|
|
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)
|
rs886041877
|
|
NM_000314.8(PTEN):c.812_833delinsCTTTTCTTTTTTTTTTTTTTTTAGGACAAAATGTTTCA (p.Phe271fs)
|
|
|
NM_000314.8(PTEN):c.813del (p.His272fs)
|
rs1114167634
|
|
NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)
|
|
|
NM_000314.8(PTEN):c.81_82insCT (p.Ile28fs)
|
rs786203477
|
|
NM_000314.8(PTEN):c.820del (p.Trp274fs)
|
|
|
NM_000314.8(PTEN):c.820dup (p.Trp274fs)
|
|
|
NM_000314.8(PTEN):c.821G>A (p.Trp274Ter)
|
rs786204875
|
|
NM_000314.8(PTEN):c.821G>T (p.Trp274Leu)
|
rs786204875
|
|
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)
|
rs587782607
|
|
NM_000314.8(PTEN):c.822_823del (p.Trp274fs)
|
|
|
NM_000314.8(PTEN):c.823_824del (p.Val275fs)
|
rs1589665610
|
|
NM_000314.8(PTEN):c.823_824dup (p.Val275_Asn276insTer)
|
|
|
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer)
|
rs1860617439
|
|
NM_000314.8(PTEN):c.827A>G (p.Asn276Ser)
|
|
|
NM_000314.8(PTEN):c.827del (p.Asn276fs)
|
rs886044679
|
|
NM_000314.8(PTEN):c.829A>G (p.Thr277Ala)
|
rs1564568216
|
|
NM_000314.8(PTEN):c.829del (p.Thr277fs)
|
|
|
NM_000314.8(PTEN):c.829dup (p.Thr277fs)
|
rs1589665640
|
|
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.833_834delinsAA (p.Phe278Ter)
|
|
|
NM_000314.8(PTEN):c.833del (p.Phe278fs)
|
|
|
NM_000314.8(PTEN):c.837dup (p.Ile280fs)
|
|
|
NM_000314.8(PTEN):c.839del (p.Ile280fs)
|
rs1589665663
|
|
NM_000314.8(PTEN):c.83_84insCTAT (p.Pro30fs)
|
|
|
NM_000314.8(PTEN):c.840_841del (p.Pro281fs)
|
rs1589665670
|
|
NM_000314.8(PTEN):c.841_851del (p.Pro281fs)
|
|
|
NM_000314.8(PTEN):c.845_846insT (p.Pro283fs)
|
|
|
NM_000314.8(PTEN):c.845del (p.Gly282fs)
|
rs864622451
|
|
NM_000314.8(PTEN):c.846_847del (p.Pro283fs)
|
|
|
NM_000314.8(PTEN):c.849_852dup (p.Glu285fs)
|
|
|
NM_000314.8(PTEN):c.849del (p.Glu284fs)
|
rs1114167655
|
|
NM_000314.8(PTEN):c.84_87del (p.Tyr29fs)
|
|
|
NM_000314.8(PTEN):c.850G>T (p.Glu284Ter)
|
rs786202840
|
|
NM_000314.8(PTEN):c.850_860del (p.Glu284fs)
|
|
|
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
|
|
|
NM_000314.8(PTEN):c.855_856del (p.Glu285fs)
|
rs1860620392
|
|
NM_000314.8(PTEN):c.85_88del (p.Tyr29fs)
|
rs786204894
|
|
NM_000314.8(PTEN):c.860C>A (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.863_865delinsCT (p.Glu288fs)
|
rs1589665750
|
|
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.865_866insTTCT (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.870del (p.Glu291fs)
|
rs886041332
|
|
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)
|
|
|
NM_000314.8(PTEN):c.873_880dup (p.Ser294fs)
|
|
|
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)
|
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|
NM_000314.8(PTEN):c.878del (p.Gly293fs)
|
|
|
NM_000314.8(PTEN):c.87T>A (p.Tyr29Ter)
|
rs1554893756
|
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NM_000314.8(PTEN):c.880dup (p.Ser294fs)
|
|
|
NM_000314.8(PTEN):c.881_885del (p.Ser294fs)
|
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NM_000314.8(PTEN):c.883_884del (p.Leu295fs)
|
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NM_000314.8(PTEN):c.883_886dup (p.Cys296fs)
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|
|
NM_000314.8(PTEN):c.884_885insTT (p.Cys296fs)
|
rs587780006
|
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NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs)
|
rs1114167680
|
|
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.885_888del (p.Cys296fs)
|
rs1114167675
|
|
NM_000314.8(PTEN):c.886del (p.Cys296fs)
|
rs1114167643
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter)
|
rs371387815
|
|
NM_000314.8(PTEN):c.892del (p.Gln298fs)
|
rs786204884
|
|
NM_000314.8(PTEN):c.894dup (p.Glu299fs)
|
|
|
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)
|
rs1114167674
|
|
NM_000314.8(PTEN):c.899_903del (p.Ile300fs)
|
rs1064796067
|
|
NM_000314.8(PTEN):c.900del (p.Ile300fs)
|
rs797045904
|
|
NM_000314.8(PTEN):c.901dup (p.Asp301fs)
|
rs1646757490
|
|
NM_000314.8(PTEN):c.904_910del (p.Ser302fs)
|
|
|
NM_000314.8(PTEN):c.910_934del (p.Cys304fs)
|
|
|
NM_000314.8(PTEN):c.913del (p.Ser305fs)
|
rs1860625404
|
|
NM_000314.8(PTEN):c.914del (p.Ser305fs)
|
rs1114167644
|
|
NM_000314.8(PTEN):c.915del (p.Ser305fs)
|
rs1589665953
|
|
NM_000314.8(PTEN):c.917_920dup (p.Glu307fs)
|
rs2132282693
|
|
NM_000314.8(PTEN):c.917dup (p.Glu307fs)
|
rs1554825560
|
|
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)
|
rs746930141
|
|
NM_000314.8(PTEN):c.920_921del (p.Glu307fs)
|
rs2132282720
|
|
NM_000314.8(PTEN):c.920_921dup (p.Arg308fs)
|
|
|
NM_000314.8(PTEN):c.920_921insTA (p.Glu307fs)
|
|
|
NM_000314.8(PTEN):c.922del (p.Arg308fs)
|
|
|
NM_000314.8(PTEN):c.922dup (p.Arg308fs)
|
|
|
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)
|
|
|
NM_000314.8(PTEN):c.925dup (p.Ala309fs)
|
|
|
NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs)
|
rs786204906
|
|
NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs)
|
rs786204906
|
|
NM_000314.8(PTEN):c.929del (p.Asp310fs)
|
rs1589665989
|
|
NM_000314.8(PTEN):c.92del (p.Asn31fs)
|
rs1564814427
|
|
NM_000314.8(PTEN):c.930del (p.Asp310fs)
|
rs1589665993
|
|
NM_000314.8(PTEN):c.930delinsAA (p.Asp310fs)
|
|
|
NM_000314.8(PTEN):c.932del (p.Asn311fs)
|
|
|
NM_000314.8(PTEN):c.938_939del (p.Lys313fs)
|
|
|
NM_000314.8(PTEN):c.940G>T (p.Glu314Ter)
|
rs1455551840
|
|
NM_000314.8(PTEN):c.940del (p.Glu314fs)
|
|
|
NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer)
|
rs1114167628
|
|
NM_000314.8(PTEN):c.942del (p.Glu314fs)
|
|
|
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter)
|
rs876661058
|
|
NM_000314.8(PTEN):c.945T>G (p.Tyr315Ter)
|
rs876661058
|
|
NM_000314.8(PTEN):c.949del (p.Val317fs)
|
rs876658837
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.94del (p.Ile32fs)
|
|
|
NM_000314.8(PTEN):c.951dup (p.Leu318fs)
|
|
|
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer)
|
rs1589665998
|
|
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_959del (p.Leu320fs)
|
rs1114167682
|
|
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.959_962del (p.Thr319_Leu320insTer)
|
|
|
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer)
|
rs1114167682
|
|
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
|
|
|
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)
|
rs786202004
|
|
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.972del (p.Asp326fs)
|
rs1860630701
|
|
NM_000314.8(PTEN):c.973del (p.Asp326fs)
|
rs1554825602
|
|
NM_000314.8(PTEN):c.974_975insC (p.Leu325_Asp326insTer)
|
|
|
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.975dup (p.Asp326Ter)
|
rs1589666183
|
|
NM_000314.8(PTEN):c.976G>A (p.Asp326Asn)
|
|
|
NM_000314.8(PTEN):c.97_98del (p.Ile33fs)
|
rs876658171
|
|
NM_000314.8(PTEN):c.980_981del (p.Lys327fs)
|
|
|
NM_000314.8(PTEN):c.982del (p.Ala328fs)
|
|
|
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.987_996dup (p.Ala333Ter)
|
rs864622387
|
|
NM_000314.8(PTEN):c.988_1014delinsTATCCATATAGATAATTTAACTGA (p.Lys330_Ser338delinsTyrProTyrArgTer)
|
|
|
NM_000314.8(PTEN):c.989_990del (p.Lys330fs)
|
rs1249338494
|
|
NM_000314.8(PTEN):c.989_992del (p.Lys330fs)
|
rs2132283419
|
|
NM_000314.8(PTEN):c.990del (p.Asp331fs)
|
|
|
NM_000314.8(PTEN):c.991_992del (p.Asp331fs)
|
rs1554825611
|
|
NM_000314.8(PTEN):c.993_994dup (p.Lys332fs)
|
rs1114167638
|
|
NM_000314.8(PTEN):c.994A>T (p.Lys332Ter)
|
|
|
NM_000314.8(PTEN):c.996dup (p.Ala333fs)
|
rs1554825615
|
|
NM_000314.8(PTEN):c.999dup (p.Asn334fs)
|
|
|
NM_001304718.2(PTEN):c.-541-5533del
|
rs2132232095
|
|
PTEN, 1-BP INS, 519T
|
|
|
PTEN, DEL
|
|
|
Single allele
|
|
|