NM_006218.4(PIK3CA):c.1060-17C>A
|
rs2699896
|
0.55517
|
NM_000314.8(PTEN):c.1026+32T>G
|
rs555895
|
0.40232
|
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)
|
rs2230461
|
0.10578
|
NM_006218.4(PIK3CA):c.1747-13T>C
|
rs41273619
|
0.05277
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)
|
rs115746478
|
0.00769
|
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)
|
rs116164892
|
0.00404
|
NM_006218.4(PIK3CA):c.-138C>T
|
rs149946088
|
0.00383
|
NM_006218.4(PIK3CA):c.*29T>C
|
rs141178472
|
0.00333
|
NM_006218.4(PIK3CA):c.1146-30G>A
|
rs8192676
|
0.00308
|
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=)
|
rs72561481
|
0.00303
|
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=)
|
rs137902538
|
0.00299
|
NM_006218.4(PIK3CA):c.2016-12C>T
|
rs147286696
|
0.00275
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_006218.4(PIK3CA):c.2016-29A>T
|
rs374926790
|
0.00242
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
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_006218.4(PIK3CA):c.2181A>T (p.Thr727=)
|
rs116336243
|
0.00117
|
NM_000314.8(PTEN):c.801+23G>A
|
rs116160352
|
0.00091
|
NM_000314.8(PTEN):c.-666G>A
|
rs553371022
|
0.00069
|
NM_006218.4(PIK3CA):c.1747-9C>T
|
rs201779641
|
0.00046
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_006218.4(PIK3CA):c.352+11A>G
|
rs201605394
|
0.00033
|
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg)
|
rs190372148
|
0.00032
|
NM_006218.4(PIK3CA):c.2015+9A>G
|
rs200768351
|
0.00032
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_006218.4(PIK3CA):c.1104T>C (p.Cys368=)
|
rs202162121
|
0.00029
|
NM_006218.4(PIK3CA):c.1530C>T (p.His510=)
|
rs200934230
|
0.00025
|
NM_006218.4(PIK3CA):c.2666+11T>G
|
rs201113847
|
0.00024
|
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=)
|
rs1131681
|
0.00022
|
NM_006218.4(PIK3CA):c.2295-19G>C
|
rs188003220
|
0.00021
|
NM_006218.4(PIK3CA):c.814-15C>G
|
rs201682277
|
0.00019
|
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)
|
rs201884756
|
0.00018
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=)
|
rs201193059
|
0.00016
|
NM_000314.8(PTEN):c.802-12T>C
|
rs587781129
|
0.00015
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
NM_001126049.2(KLLN):c.-777C>T
|
rs961642255
|
0.00013
|
NM_000314.8(PTEN):c.1197A>G (p.Gln399=)
|
rs374684043
|
0.00012
|
NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=)
|
rs200568210
|
0.00012
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)
|
rs200868796
|
0.00011
|
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg)
|
rs181194055
|
0.00011
|
NM_006218.4(PIK3CA):c.548A>G (p.Asn183Ser)
|
rs767439253
|
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_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_006218.4(PIK3CA):c.2103C>T (p.His701=)
|
rs762364388
|
0.00010
|
NM_006218.4(PIK3CA):c.2514T>C (p.Cys838=)
|
rs202175608
|
0.00010
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
NM_006218.4(PIK3CA):c.225A>G (p.Gln75=)
|
rs202176973
|
0.00009
|
NM_006218.4(PIK3CA):c.3198A>G (p.Ala1066=)
|
rs201911086
|
0.00009
|
NM_006218.4(PIK3CA):c.1405-19C>A
|
rs200583891
|
0.00008
|
NM_006218.4(PIK3CA):c.2936+8C>T
|
rs372832719
|
0.00008
|
NM_006218.4(PIK3CA):c.2937-15T>C
|
rs200829898
|
0.00008
|
NM_006218.4(PIK3CA):c.1404+19T>G
|
rs200001396
|
0.00007
|
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_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser)
|
rs200404201
|
0.00006
|
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)
|
rs201269904
|
0.00006
|
NM_006218.4(PIK3CA):c.529T>C (p.Leu177=)
|
rs759712592
|
0.00006
|
NM_000314.8(PTEN):c.802-2A>T
|
rs587782455
|
0.00005
|
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn)
|
rs199747934
|
0.00005
|
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser)
|
rs201371389
|
0.00005
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_006218.4(PIK3CA):c.1146-4A>G
|
rs201538541
|
0.00004
|
NM_006218.4(PIK3CA):c.1263A>G (p.Pro421=)
|
rs199927451
|
0.00004
|
NM_006218.4(PIK3CA):c.1747-8A>G
|
rs1396807505
|
0.00004
|
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)
|
rs71310379
|
0.00004
|
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=)
|
rs201402676
|
0.00004
|
NM_006218.4(PIK3CA):c.2936+9G>A
|
rs756341833
|
0.00004
|
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val)
|
rs371727887
|
0.00004
|
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val)
|
rs201238717
|
0.00004
|
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_001126049.2(KLLN):c.-845C>T
|
rs587782068
|
0.00003
|
NM_006218.4(PIK3CA):c.1139A>G (p.Asn380Ser)
|
rs202013300
|
0.00003
|
NM_006218.4(PIK3CA):c.1501T>A (p.Ser501Thr)
|
rs751557352
|
0.00003
|
NM_006218.4(PIK3CA):c.1599A>T (p.Ala533=)
|
rs370901039
|
0.00003
|
NM_006218.4(PIK3CA):c.1743C>A (p.Ala581=)
|
rs370692448
|
0.00003
|
NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=)
|
rs1060503813
|
0.00003
|
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=)
|
rs775001064
|
0.00003
|
NM_006218.4(PIK3CA):c.2416+6G>A
|
rs759918867
|
0.00003
|
NM_006218.4(PIK3CA):c.2496A>G (p.Arg832=)
|
rs201269713
|
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_006218.4(PIK3CA):c.1059+19G>A
|
rs201940827
|
0.00002
|
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln)
|
rs768265254
|
0.00002
|
NM_006218.4(PIK3CA):c.1540-13T>C
|
rs202010325
|
0.00002
|
NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=)
|
rs756835265
|
0.00002
|
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=)
|
rs201815216
|
0.00002
|
NM_006218.4(PIK3CA):c.1746+10T>C
|
rs748414008
|
0.00002
|
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)
|
rs199540873
|
0.00002
|
NM_006218.4(PIK3CA):c.210C>T (p.Phe70=)
|
rs760094170
|
0.00002
|
NM_006218.4(PIK3CA):c.228A>G (p.Glu76=)
|
rs1360446174
|
0.00002
|
NM_006218.4(PIK3CA):c.2417-15T>C
|
rs201818420
|
0.00002
|
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)
|
rs199693043
|
0.00002
|
NM_006218.4(PIK3CA):c.2445A>G (p.Gln815=)
|
rs1400861611
|
0.00002
|
NM_006218.4(PIK3CA):c.2517G>A (p.Leu839=)
|
rs753399946
|
0.00002
|
NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)
|
rs780492649
|
0.00002
|
NM_006218.4(PIK3CA):c.2629C>T (p.Leu877=)
|
rs747283707
|
0.00002
|
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)
|
rs17849078
|
0.00002
|
NM_006218.4(PIK3CA):c.3042A>G (p.Gln1014=)
|
rs527991739
|
0.00002
|
NM_006218.4(PIK3CA):c.312A>G (p.Pro104=)
|
rs1242038507
|
0.00002
|
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser)
|
rs746860750
|
0.00002
|
NM_006218.4(PIK3CA):c.435C>T (p.Asn145=)
|
rs1051404
|
0.00002
|
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser)
|
rs200001957
|
0.00002
|
NM_006218.4(PIK3CA):c.563-3T>C
|
rs200507422
|
0.00002
|
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)
|
rs765030404
|
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
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=)
|
rs375577477
|
0.00001
|
NM_006218.4(PIK3CA):c.1059+12T>A
|
rs200627037
|
0.00001
|
NM_006218.4(PIK3CA):c.1060-9T>C
|
rs750875731
|
0.00001
|
NM_006218.4(PIK3CA):c.1215C>T (p.Ser405=)
|
rs199689419
|
0.00001
|
NM_006218.4(PIK3CA):c.1234C>A (p.Arg412=)
|
rs745676512
|
0.00001
|
NM_006218.4(PIK3CA):c.1252-10G>A
|
rs201600987
|
0.00001
|
NM_006218.4(PIK3CA):c.1304C>T (p.Thr435Ile)
|
rs745847400
|
0.00001
|
NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=)
|
rs1060503812
|
0.00001
|
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro)
|
rs200951754
|
0.00001
|
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile)
|
rs201946684
|
0.00001
|
NM_006218.4(PIK3CA):c.1405-12T>C
|
rs747847214
|
0.00001
|
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr)
|
rs772628045
|
0.00001
|
NM_006218.4(PIK3CA):c.1449G>C (p.Val483=)
|
rs202186428
|
0.00001
|
NM_006218.4(PIK3CA):c.1458C>T (p.Phe486=)
|
rs201775914
|
0.00001
|
NM_006218.4(PIK3CA):c.1465A>G (p.Met489Val)
|
rs1187304552
|
0.00001
|
NM_006218.4(PIK3CA):c.1476T>A (p.Ile492=)
|
rs557949672
|
0.00001
|
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly)
|
rs1060500027
|
0.00001
|
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His)
|
rs199563773
|
0.00001
|
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser)
|
rs753879573
|
0.00001
|
NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys)
|
rs1271146910
|
0.00001
|
NM_006218.4(PIK3CA):c.1505G>A (p.Arg502Gln)
|
rs1220116506
|
0.00001
|
NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=)
|
rs201108344
|
0.00001
|
NM_006218.4(PIK3CA):c.1653A>G (p.Leu551=)
|
rs201983420
|
0.00001
|
NM_006218.4(PIK3CA):c.171C>G (p.Pro57=)
|
rs202038584
|
0.00001
|
NM_006218.4(PIK3CA):c.1749G>A (p.Met583Ile)
|
rs1302992156
|
0.00001
|
NM_006218.4(PIK3CA):c.176A>C (p.His59Pro)
|
rs1480626654
|
0.00001
|
NM_006218.4(PIK3CA):c.1774C>T (p.Pro592Ser)
|
rs1724920020
|
0.00001
|
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val)
|
rs768646872
|
0.00001
|
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln)
|
rs3865687
|
0.00001
|
NM_006218.4(PIK3CA):c.1857G>A (p.Leu619=)
|
rs765176108
|
0.00001
|
NM_006218.4(PIK3CA):c.2016-3T>C
|
rs879254354
|
0.00001
|
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys)
|
rs1060500029
|
0.00001
|
NM_006218.4(PIK3CA):c.2115A>G (p.Gln705=)
|
rs1253775694
|
0.00001
|
NM_006218.4(PIK3CA):c.2118C>T (p.Val706=)
|
rs373861259
|
0.00001
|
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly)
|
rs1560137176
|
0.00001
|
NM_006218.4(PIK3CA):c.2187+3G>A
|
rs758572428
|
0.00001
|
NM_006218.4(PIK3CA):c.2188-7T>A
|
rs765727782
|
0.00001
|
NM_006218.4(PIK3CA):c.2214A>G (p.Gln738=)
|
rs751886212
|
0.00001
|
NM_006218.4(PIK3CA):c.2283A>G (p.Leu761=)
|
rs1011706035
|
0.00001
|
NM_006218.4(PIK3CA):c.2294+5T>C
|
rs1265140191
|
0.00001
|
NM_006218.4(PIK3CA):c.2295-15T>C
|
rs751310116
|
0.00001
|
NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=)
|
rs769405239
|
0.00001
|
NM_006218.4(PIK3CA):c.2392G>A (p.Glu798Lys)
|
rs1430412182
|
0.00001
|
NM_006218.4(PIK3CA):c.2409T>C (p.Asn803=)
|
rs1193928100
|
0.00001
|
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp)
|
rs200671228
|
0.00001
|
NM_006218.4(PIK3CA):c.2495+15A>C
|
rs775689452
|
0.00001
|
NM_006218.4(PIK3CA):c.2496-18G>A
|
rs759447947
|
0.00001
|
NM_006218.4(PIK3CA):c.2496-19C>T
|
rs774332931
|
0.00001
|
NM_006218.4(PIK3CA):c.2520A>T (p.Ser840=)
|
rs1216933205
|
0.00001
|
NM_006218.4(PIK3CA):c.2523C>T (p.Ile841=)
|
rs1285849390
|
0.00001
|
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser)
|
rs1560148927
|
0.00001
|
NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg)
|
rs756890248
|
0.00001
|
NM_006218.4(PIK3CA):c.2550G>A (p.Val850=)
|
rs1253104649
|
0.00001
|
NM_006218.4(PIK3CA):c.2554C>T (p.Arg852Ter)
|
rs758795044
|
0.00001
|
NM_006218.4(PIK3CA):c.2555G>A (p.Arg852Gln)
|
rs199943173
|
0.00001
|
NM_006218.4(PIK3CA):c.2607A>T (p.Ala869=)
|
rs1165547628
|
0.00001
|
NM_006218.4(PIK3CA):c.2623C>T (p.His875Tyr)
|
rs892699659
|
0.00001
|
NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=)
|
rs199826066
|
0.00001
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
NM_006218.4(PIK3CA):c.2724C>T (p.Thr908=)
|
rs1197527173
|
0.00001
|
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=)
|
rs769962451
|
0.00001
|
NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn)
|
rs773300933
|
0.00001
|
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=)
|
rs369770518
|
0.00001
|
NM_006218.4(PIK3CA):c.291C>T (p.Pro97=)
|
rs1051400
|
0.00001
|
NM_006218.4(PIK3CA):c.2936+6C>T
|
rs547967000
|
0.00001
|
NM_006218.4(PIK3CA):c.2937-17G>A
|
rs199707417
|
0.00001
|
NM_006218.4(PIK3CA):c.2937-3T>C
|
rs760056670
|
0.00001
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
NM_006218.4(PIK3CA):c.339C>G (p.Leu113=)
|
rs779052263
|
0.00001
|
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser)
|
rs750545881
|
0.00001
|
NM_006218.4(PIK3CA):c.414C>T (p.Asp138=)
|
rs199543283
|
0.00001
|
NM_006218.4(PIK3CA):c.422G>A (p.Arg141Lys)
|
rs200619412
|
0.00001
|
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)
|
rs755969956
|
0.00001
|
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe)
|
rs201705993
|
0.00001
|
NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)
|
rs367754244
|
0.00001
|
NM_006218.4(PIK3CA):c.562+15A>C
|
rs777496847
|
0.00001
|
NM_006218.4(PIK3CA):c.562+20A>C
|
rs749141814
|
0.00001
|
NM_006218.4(PIK3CA):c.564G>C (p.Gly188=)
|
rs1724403579
|
0.00001
|
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser)
|
rs372610277
|
0.00001
|
NM_006218.4(PIK3CA):c.635A>G (p.Asn212Ser)
|
rs751662352
|
0.00001
|
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr)
|
rs1724405220
|
0.00001
|
NM_006218.4(PIK3CA):c.814-20G>A
|
rs202180110
|
0.00001
|
NM_006218.4(PIK3CA):c.814-4A>G
|
rs761666391
|
0.00001
|
NM_006218.4(PIK3CA):c.814-9C>T
|
rs753738741
|
0.00001
|
NM_006218.4(PIK3CA):c.814T>C (p.Tyr272His)
|
rs1724476312
|
0.00001
|
NM_006218.4(PIK3CA):c.825C>T (p.Ser275=)
|
rs1724476990
|
0.00001
|
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr)
|
rs1297000505
|
0.00001
|
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile)
|
rs199605762
|
0.00001
|
NM_006218.4(PIK3CA):c.995G>A (p.Ser332Asn)
|
rs1262394031
|
0.00001
|
C124S
|
|
|
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
|
|
|
NC_000003.11:g.(?_178916538)_(178952500_?)dup
|
|
|
NC_000003.11:g.(?_178916608)_(178952158_?)dup
|
|
|
NC_000003.11:g.(?_178916614)_(178952152_?)dup
|
|
|
NC_000003.11:g.(?_178935988)_(178952152_?)dup
|
|
|
NC_000003.11:g.(?_178941859)_(178952162_?)dup
|
|
|
NC_000003.11:g.(?_178947772)_(179144440_?)dup
|
|
|
NC_000003.11:g.(?_178951872)_(178952152_?)dup
|
|
|
NC_000003.12:g.(?_179199680)_(179234374_?)dup
|
|
|
NC_000003.12:g.(?_179203534)_(179234364_?)dup
|
|
|
NC_000010.11:g.87952119del
|
rs2132268865
|
|
NC_000010.11:g.87957853_87957860del
|
|
|
NC_000010.11:g.87965287del
|
rs2132289111
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
|
rs587776672
|
|
NM_000314.7(PTEN):c.-861G>T
|
rs587776675
|
|
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.-687G>A
|
|
|
NM_000314.8(PTEN):c.-735G>A
|
rs886047384
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
NM_000314.8(PTEN):c.-822G>T
|
rs587779993
|
|
NM_000314.8(PTEN):c.-844T>C
|
rs587779995
|
|
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.1023del (p.Phe341fs)
|
rs1564568689
|
|
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.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
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.131G>A (p.Gly44Asp)
|
rs1085308042
|
|
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.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>G (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)
|
|
|
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+1G>A
|
rs1554897280
|
|
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+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.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>C (p.Leu112Pro)
|
rs121909230
|
|
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.344A>G (p.Asp115Gly)
|
rs869312775
|
|
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.37A>G (p.Lys13Glu)
|
rs1554890348
|
|
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.404T>A (p.Ile135Lys)
|
rs370795352
|
|
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.408T>G (p.Cys136Trp)
|
rs869312776
|
|
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.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.424del (p.Arg142fs)
|
rs869312779
|
|
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
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.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter)
|
rs876661009
|
|
NM_000314.8(PTEN):c.483_492del (p.Asp162fs)
|
|
|
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)
|
rs869312777
|
|
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.488A>G (p.Lys163Arg)
|
rs786202753
|
|
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.512A>G (p.Gln171Arg)
|
rs786204865
|
|
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.529T>G (p.Tyr177Asp)
|
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.593T>C (p.Met198Thr)
|
rs1554900635
|
|
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+3_634+7delinsTCTCATCCTTGAATTT
|
|
|
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.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_751del (p.Cys250fs)
|
rs780264945
|
|
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.755A>T (p.Asp252Val)
|
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.767_768del (p.Glu256fs)
|
rs869312780
|
|
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.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
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.827A>T (p.Asn276Ile)
|
rs1860618095
|
|
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.838A>G (p.Ile280Val)
|
rs1474354667
|
|
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.860C>G (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
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.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
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.947T>C (p.Leu316Pro)
|
rs1064793345
|
|
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.967_968dup (p.Asn323fs)
|
rs121913291
|
|
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_001126049.2(KLLN):c.-736G>C
|
rs1554889801
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
NM_001126049.2(KLLN):c.-812G>T
|
rs587779981
|
|
NM_001126049.2(KLLN):c.-828C>T
|
rs786203674
|
|
NM_001126049.2(KLLN):c.-887C>T
|
rs786204920
|
|
NM_001304718.2(PTEN):c.-541-5533del
|
rs2132232095
|
|
NM_003000.3(SDHB):c.540+11C>T
|
rs1160578491
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe)
|
rs886037891
|
|
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs)
|
rs1553821123
|
|
NM_006218.4(PIK3CA):c.1014T>G (p.Ile338Met)
|
|
|
NM_006218.4(PIK3CA):c.1026C>G (p.Thr342=)
|
rs1724483318
|
|
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
|
rs1057519942
|
|
NM_006218.4(PIK3CA):c.103G>C (p.Glu35Gln)
|
rs2108385365
|
|
NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val)
|
rs1724484731
|
|
NM_006218.4(PIK3CA):c.1059+12T>C
|
rs200627037
|
|
NM_006218.4(PIK3CA):c.1060-18_1060-17delinsAA
|
rs1724504537
|
|
NM_006218.4(PIK3CA):c.1060-8T>C
|
|
|
NM_006218.4(PIK3CA):c.1060-8T>G
|
|
|
NM_006218.4(PIK3CA):c.1064A>G (p.Tyr355Cys)
|
rs2108394261
|
|
NM_006218.4(PIK3CA):c.1071A>G (p.Arg357=)
|
rs2108394279
|
|
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys)
|
rs1724506239
|
|
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)
|
rs1064793732
|
|
NM_006218.4(PIK3CA):c.1098C>A (p.Pro366=)
|
rs1442927984
|
|
NM_006218.4(PIK3CA):c.1122A>G (p.Gln374=)
|
rs2108394515
|
|
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.1130C>T (p.Pro377Leu)
|
|
|
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)
|
rs397514565
|
|
NM_006218.4(PIK3CA):c.1136C>G (p.Ser379Cys)
|
rs1724507950
|
|
NM_006218.4(PIK3CA):c.1145+13A>G
|
|
|
NM_006218.4(PIK3CA):c.1145+16G>A
|
|
|
NM_006218.4(PIK3CA):c.1145+19T>G
|
|
|
NM_006218.4(PIK3CA):c.1145+4A>G
|
rs1724508525
|
|
NM_006218.4(PIK3CA):c.1145+9G>A
|
rs1237861151
|
|
NM_006218.4(PIK3CA):c.1145+9G>T
|
rs1237861151
|
|
NM_006218.4(PIK3CA):c.1146-17T>C
|
|
|
NM_006218.4(PIK3CA):c.1146-3T>C
|
|
|
NM_006218.4(PIK3CA):c.1175A>G (p.Tyr392Cys)
|
|
|
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His)
|
rs748197872
|
|
NM_006218.4(PIK3CA):c.1193G>C (p.Arg398Pro)
|
|
|
NM_006218.4(PIK3CA):c.1203A>C (p.Arg401=)
|
|
|
NM_006218.4(PIK3CA):c.1203A>G (p.Arg401=)
|
rs1576938104
|
|
NM_006218.4(PIK3CA):c.1232G>C (p.Gly411Ala)
|
|
|
NM_006218.4(PIK3CA):c.1235G>T (p.Arg412Leu)
|
rs2108399407
|
|
NM_006218.4(PIK3CA):c.1244C>T (p.Ala415Val)
|
rs1576938120
|
|
NM_006218.4(PIK3CA):c.1248A>G (p.Lys416=)
|
|
|
NM_006218.4(PIK3CA):c.1251+1G>C
|
|
|
NM_006218.4(PIK3CA):c.1251+3A>G
|
|
|
NM_006218.4(PIK3CA):c.1251+8_1251+11del
|
rs2108399467
|
|
NM_006218.4(PIK3CA):c.1251+9T>G
|
|
|
NM_006218.4(PIK3CA):c.1254A>G (p.Glu418=)
|
rs1060503810
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=)
|
rs761246978
|
|
NM_006218.4(PIK3CA):c.1279A>G (p.Ile427Val)
|
|
|
NM_006218.4(PIK3CA):c.1292A>T (p.Asp431Val)
|
|
|
NM_006218.4(PIK3CA):c.1299A>G (p.Thr433=)
|
rs1576938403
|
|
NM_006218.4(PIK3CA):c.1306C>G (p.Leu436Val)
|
rs1365836230
|
|
NM_006218.4(PIK3CA):c.1308A>G (p.Leu436=)
|
rs2108400390
|
|
NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val)
|
rs1427967136
|
|
NM_006218.4(PIK3CA):c.1324G>A (p.Ala442Thr)
|
rs200951754
|
|
NM_006218.4(PIK3CA):c.1341A>C (p.Pro447=)
|
rs1332986630
|
|
NM_006218.4(PIK3CA):c.1343_1357del (p.Val448_Leu452del)
|
rs1724673930
|
|
NM_006218.4(PIK3CA):c.134T>C (p.Ile45Thr)
|
|
|
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=)
|
rs1553822208
|
|
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del)
|
rs587776933
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1374T>A (p.Pro458=)
|
rs1576938493
|
|
NM_006218.4(PIK3CA):c.139C>T (p.His47Tyr)
|
rs1724336565
|
|
NM_006218.4(PIK3CA):c.1404+12A>C
|
|
|
NM_006218.4(PIK3CA):c.1404+15G>A
|
rs555315457
|
|
NM_006218.4(PIK3CA):c.1404+15G>T
|
|
|
NM_006218.4(PIK3CA):c.1404+17C>T
|
|
|
NM_006218.4(PIK3CA):c.1404+3A>T
|
|
|
NM_006218.4(PIK3CA):c.1404+6G>A
|
|
|
NM_006218.4(PIK3CA):c.1405-14C>T
|
|
|
NM_006218.4(PIK3CA):c.1405-8T>C
|
rs1576938589
|
|
NM_006218.4(PIK3CA):c.1426G>A (p.Glu476Lys)
|
|
|
NM_006218.4(PIK3CA):c.1428G>A (p.Glu476=)
|
rs1576938610
|
|
NM_006218.4(PIK3CA):c.1445G>C (p.Ser482Thr)
|
|
|
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu)
|
rs991307659
|
|
NM_006218.4(PIK3CA):c.1448T>C (p.Val483Ala)
|
rs1724680844
|
|
NM_006218.4(PIK3CA):c.1467G>C (p.Met489Ile)
|
rs2108401457
|
|
NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met)
|
rs557949672
|
|
NM_006218.4(PIK3CA):c.147A>G (p.Leu49=)
|
rs1207754023
|
|
NM_006218.4(PIK3CA):c.1480G>C (p.Glu494Gln)
|
|
|
NM_006218.4(PIK3CA):c.1485T>C (p.His495=)
|
rs1480813252
|
|
NM_006218.4(PIK3CA):c.1496C>G (p.Ser499Cys)
|
rs1724682773
|
|
NM_006218.4(PIK3CA):c.1525T>A (p.Ser509Thr)
|
rs2108401708
|
|
NM_006218.4(PIK3CA):c.1531G>A (p.Ala511Thr)
|
|
|
NM_006218.4(PIK3CA):c.1535G>C (p.Gly512Ala)
|
rs200031978
|
|
NM_006218.4(PIK3CA):c.1539+11T>C
|
|
|
NM_006218.4(PIK3CA):c.1539+17A>G
|
rs2108401819
|
|
NM_006218.4(PIK3CA):c.1540-19A>G
|
|
|
NM_006218.4(PIK3CA):c.1540-1G>T
|
rs2108407893
|
|
NM_006218.4(PIK3CA):c.1540-20G>A
|
|
|
NM_006218.4(PIK3CA):c.1540-6T>C
|
rs200006381
|
|
NM_006218.4(PIK3CA):c.1540A>C (p.Ser514Arg)
|
rs2108407898
|
|
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln)
|
rs1553820355
|
|
NM_006218.4(PIK3CA):c.1553C>G (p.Ala518Gly)
|
rs1724885747
|
|
NM_006218.4(PIK3CA):c.1567T>C (p.Leu523=)
|
|
|
NM_006218.4(PIK3CA):c.1569A>C (p.Leu523Phe)
|
|
|
NM_006218.4(PIK3CA):c.1580A>G (p.Asp527Gly)
|
rs1302938521
|
|
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr)
|
rs1560144842
|
|
NM_006218.4(PIK3CA):c.1598C>G (p.Ala533Gly)
|
rs1724886930
|
|
NM_006218.4(PIK3CA):c.15A>G (p.Pro5=)
|
rs2108384979
|
|
NM_006218.4(PIK3CA):c.1600A>C (p.Ile534Leu)
|
|
|
NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=)
|
rs2108408180
|
|
NM_006218.4(PIK3CA):c.1618C>G (p.Leu540Val)
|
rs2108408264
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1629C>T (p.Ile543=)
|
|
|
NM_006218.4(PIK3CA):c.1631C>G (p.Thr544Ser)
|
rs2108408335
|
|
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.1644A>G (p.Lys548=)
|
rs2108408420
|
|
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr)
|
rs1576942444
|
|
NM_006218.4(PIK3CA):c.1664+18G>A
|
rs104886001
|
|
NM_006218.4(PIK3CA):c.1664+3A>G
|
rs769124869
|
|
NM_006218.4(PIK3CA):c.1664+6T>G
|
|
|
NM_006218.4(PIK3CA):c.1680T>C (p.Thr560=)
|
|
|
NM_006218.4(PIK3CA):c.1696C>T (p.Pro566Ser)
|
|
|
NM_006218.4(PIK3CA):c.171C>T (p.Pro57=)
|
rs202038584
|
|
NM_006218.4(PIK3CA):c.1734T>C (p.Asp578=)
|
|
|
NM_006218.4(PIK3CA):c.1743C>G (p.Ala581=)
|
rs370692448
|
|
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)
|
rs370692448
|
|
NM_006218.4(PIK3CA):c.1746+19T>G
|
|
|
NM_006218.4(PIK3CA):c.1747-11C>G
|
|
|
NM_006218.4(PIK3CA):c.1747-15C>T
|
|
|
NM_006218.4(PIK3CA):c.1747-3_1747-2del
|
rs1724918816
|
|
NM_006218.4(PIK3CA):c.1747-4A>G
|
|
|
NM_006218.4(PIK3CA):c.1747-6dup
|
rs1724918747
|
|
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val)
|
rs1553823608
|
|
NM_006218.4(PIK3CA):c.1749G>T (p.Met583Ile)
|
rs1302992156
|
|
NM_006218.4(PIK3CA):c.1752T>C (p.Tyr584=)
|
|
|
NM_006218.4(PIK3CA):c.175C>T (p.His59Tyr)
|
rs1266632047
|
|
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly)
|
rs1060500028
|
|
NM_006218.4(PIK3CA):c.1775C>T (p.Pro592Leu)
|
|
|
NM_006218.4(PIK3CA):c.1776A>C (p.Pro592=)
|
rs2108410693
|
|
NM_006218.4(PIK3CA):c.1794T>C (p.Ala598=)
|
rs749558732
|
|
NM_006218.4(PIK3CA):c.1809C>T (p.Asp603=)
|
rs558223824
|
|
NM_006218.4(PIK3CA):c.1810T>C (p.Cys604Arg)
|
rs2108410857
|
|
NM_006218.4(PIK3CA):c.181C>A (p.Leu61Ile)
|
rs2108385717
|
|
NM_006218.4(PIK3CA):c.1824T>A (p.Asp608Glu)
|
|
|
NM_006218.4(PIK3CA):c.1834C>T (p.Arg612Ter)
|
|
|
NM_006218.4(PIK3CA):c.1846G>A (p.Val616Ile)
|
|
|
NM_006218.4(PIK3CA):c.1862A>T (p.Lys621Ile)
|
|
|
NM_006218.4(PIK3CA):c.186T>G (p.Leu62=)
|
|
|
NM_006218.4(PIK3CA):c.1880A>G (p.Lys627Arg)
|
|
|
NM_006218.4(PIK3CA):c.189A>C (p.Gln63His)
|
rs772678298
|
|
NM_006218.4(PIK3CA):c.189A>G (p.Gln63=)
|
|
|
NM_006218.4(PIK3CA):c.1911+11G>T
|
|
|
NM_006218.4(PIK3CA):c.1911+14A>C
|
|
|
NM_006218.4(PIK3CA):c.1911+8A>G
|
rs2108411355
|
|
NM_006218.4(PIK3CA):c.1912-18T>G
|
rs1445802132
|
|
NM_006218.4(PIK3CA):c.1912-4C>G
|
|
|
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala)
|
rs1553823718
|
|
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=)
|
rs1553823720
|
|
NM_006218.4(PIK3CA):c.1960C>T (p.Leu654=)
|
|
|
NM_006218.4(PIK3CA):c.1974G>C (p.Leu658Phe)
|
|
|
NM_006218.4(PIK3CA):c.198T>C (p.Ser66=)
|
rs752074639
|
|
NM_006218.4(PIK3CA):c.1997T>A (p.Phe666Tyr)
|
|
|
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)
|
rs1724332515
|
|
NM_006218.4(PIK3CA):c.2015+18C>T
|
|
|
NM_006218.4(PIK3CA):c.2015+20del
|
|
|
NM_006218.4(PIK3CA):c.2015+4A>C
|
rs1060500026
|
|
NM_006218.4(PIK3CA):c.2015+8T>C
|
rs2108412235
|
|
NM_006218.4(PIK3CA):c.2016-11G>A
|
rs200418058
|
|
NM_006218.4(PIK3CA):c.2016-11G>C
|
|
|
NM_006218.4(PIK3CA):c.2016-11G>T
|
|
|
NM_006218.4(PIK3CA):c.2016-14C>A
|
|
|
NM_006218.4(PIK3CA):c.201T>G (p.Ser67=)
|
|
|
NM_006218.4(PIK3CA):c.2028C>T (p.His676=)
|
rs1724953193
|
|
NM_006218.4(PIK3CA):c.2038G>A (p.Val680Ile)
|
|
|
NM_006218.4(PIK3CA):c.2042G>C (p.Ser681Thr)
|
rs1724953620
|
|
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
|
rs1576943715
|
|
NM_006218.4(PIK3CA):c.2056C>A (p.Leu686Met)
|
rs1724954145
|
|
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys)
|
rs1397152286
|
|
NM_006218.4(PIK3CA):c.2080G>A (p.Ala694Thr)
|
rs200404201
|
|
NM_006218.4(PIK3CA):c.2109T>C (p.Asn703=)
|
rs1576943768
|
|
NM_006218.4(PIK3CA):c.2119G>A (p.Glu707Lys)
|
rs3729687
|
|
NM_006218.4(PIK3CA):c.213A>G (p.Val71=)
|
rs879254355
|
|
NM_006218.4(PIK3CA):c.2144_2148del (p.Asn714_Leu715insTer)
|
|
|
NM_006218.4(PIK3CA):c.2148T>G (p.Thr716=)
|
|
|
NM_006218.4(PIK3CA):c.2164_2166del (p.Glu722del)
|
|
|
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=)
|
rs1201015891
|
|
NM_006218.4(PIK3CA):c.2172G>A (p.Lys724=)
|
rs1036695914
|
|
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
|
rs867262025
|
|
NM_006218.4(PIK3CA):c.2181A>C (p.Thr727=)
|
|
|
NM_006218.4(PIK3CA):c.2187+11_2187+12del
|
|
|
NM_006218.4(PIK3CA):c.2187+4T>C
|
|
|
NM_006218.4(PIK3CA):c.2188-15T>C
|
|
|
NM_006218.4(PIK3CA):c.2188-19A>G
|
|
|
NM_006218.4(PIK3CA):c.2188-7dup
|
rs35213509
|
|
NM_006218.4(PIK3CA):c.2188-8T>C
|
|
|
NM_006218.4(PIK3CA):c.2188G>A (p.Val730Ile)
|
|
|
NM_006218.4(PIK3CA):c.2219G>A (p.Arg740Lys)
|
rs1560147074
|
|
NM_006218.4(PIK3CA):c.2220G>T (p.Arg740Ser)
|
|
|
NM_006218.4(PIK3CA):c.2241T>C (p.Ala747=)
|
|
|
NM_006218.4(PIK3CA):c.2242C>T (p.Leu748=)
|
rs2108416809
|
|
NM_006218.4(PIK3CA):c.2255T>C (p.Leu752Pro)
|
|
|
NM_006218.4(PIK3CA):c.2262T>A (p.Pro754=)
|
rs1239363712
|
|
NM_006218.4(PIK3CA):c.2268C>T (p.Asn756=)
|
rs2108416902
|
|
NM_006218.4(PIK3CA):c.2269C>T (p.Pro757Ser)
|
|
|
NM_006218.4(PIK3CA):c.2274T>C (p.Ala758=)
|
rs757160501
|
|
NM_006218.4(PIK3CA):c.2275C>T (p.His759Tyr)
|
|
|
NM_006218.4(PIK3CA):c.2277T>C (p.His759=)
|
rs1056341727
|
|
NM_006218.4(PIK3CA):c.2287A>G (p.Asn763Asp)
|
|
|
NM_006218.4(PIK3CA):c.2289C>T (p.Asn763=)
|
rs2108417002
|
|
NM_006218.4(PIK3CA):c.2294+20A>G
|
|
|
NM_006218.4(PIK3CA):c.2295-13A>G
|
|
|
NM_006218.4(PIK3CA):c.2295-8T>C
|
rs754640150
|
|
NM_006218.4(PIK3CA):c.2295-9A>G
|
|
|
NM_006218.4(PIK3CA):c.2331G>A (p.Arg777=)
|
rs771524333
|
|
NM_006218.4(PIK3CA):c.2352G>A (p.Glu784=)
|
|
|
NM_006218.4(PIK3CA):c.2361CAT[1] (p.Ile788del)
|
rs1576945593
|
|
NM_006218.4(PIK3CA):c.2362A>T (p.Ile788Phe)
|
rs1356168549
|
|
NM_006218.4(PIK3CA):c.2365A>G (p.Met789Val)
|
rs2108418054
|
|
NM_006218.4(PIK3CA):c.2368T>C (p.Ser790Pro)
|
rs2108418067
|
|
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter)
|
rs1060500030
|
|
NM_006218.4(PIK3CA):c.2381T>A (p.Phe794Tyr)
|
rs1725045573
|
|
NM_006218.4(PIK3CA):c.2416+10A>G
|
rs1428028086
|
|
NM_006218.4(PIK3CA):c.2416+11G>T
|
rs2108418320
|
|
NM_006218.4(PIK3CA):c.2417-18A>G
|
|
|
NM_006218.4(PIK3CA):c.2417-4T>A
|
rs1060503815
|
|
NM_006218.4(PIK3CA):c.2417-4T>G
|
rs1060503815
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.2421A>G (p.Leu807=)
|
rs2108419363
|
|
NM_006218.4(PIK3CA):c.2423G>A (p.Arg808Gln)
|
rs780837825
|
|
NM_006218.4(PIK3CA):c.2427A>G (p.Gln809=)
|
rs2108419393
|
|
NM_006218.4(PIK3CA):c.2439A>C (p.Thr813=)
|
rs201600506
|
|
NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=)
|
rs201600506
|
|
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His)
|
rs371049193
|
|
NM_006218.4(PIK3CA):c.2458A>G (p.Met820Val)
|
rs2108419521
|
|
NM_006218.4(PIK3CA):c.2466T>C (p.Asn822=)
|
|
|
NM_006218.4(PIK3CA):c.2475A>G (p.Gln825=)
|
rs1725073392
|
|
NM_006218.4(PIK3CA):c.2489A>T (p.Asp830Val)
|
|
|
NM_006218.4(PIK3CA):c.2495+16G>C
|
rs1193553351
|
|
NM_006218.4(PIK3CA):c.2495+19A>C
|
|
|
NM_006218.4(PIK3CA):c.2495+9C>T
|
rs2108419671
|
|
NM_006218.4(PIK3CA):c.2496-10C>T
|
|
|
NM_006218.4(PIK3CA):c.2496-12C>T
|
|
|
NM_006218.4(PIK3CA):c.2496-13A>T
|
rs1435775251
|
|
NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=)
|
rs2108422421
|
|
NM_006218.4(PIK3CA):c.2513G>C (p.Cys838Ser)
|
rs1725157266
|
|
NM_006218.4(PIK3CA):c.252T>C (p.Asp84=)
|
rs1060503814
|
|
NM_006218.4(PIK3CA):c.2550G>C (p.Val850=)
|
|
|
NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser)
|
rs1725159134
|
|
NM_006218.4(PIK3CA):c.2568T>A (p.Thr856=)
|
rs1440145288
|
|
NM_006218.4(PIK3CA):c.2595C>T (p.Gly865=)
|
rs1725159820
|
|
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)
|
rs1576947658
|
|
NM_006218.4(PIK3CA):c.2604T>A (p.Gly868=)
|
|
|
NM_006218.4(PIK3CA):c.2612A>T (p.Gln871Leu)
|
rs2108422970
|
|
NM_006218.4(PIK3CA):c.2624A>G (p.His875Arg)
|
|
|
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala)
|
rs1576947670
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
NM_006218.4(PIK3CA):c.2666+10A>G
|
rs554685447
|
|
NM_006218.4(PIK3CA):c.2666+17T>C
|
|
|
NM_006218.4(PIK3CA):c.2666+20C>T
|
|
|
NM_006218.4(PIK3CA):c.2666+3G>A
|
rs1576947706
|
|
NM_006218.4(PIK3CA):c.2667-11A>G
|
|
|
NM_006218.4(PIK3CA):c.2667-20G>A
|
|
|
NM_006218.4(PIK3CA):c.2667A>T (p.Ile889=)
|
rs17849078
|
|
NM_006218.4(PIK3CA):c.2668T>G (p.Tyr890Asp)
|
|
|
NM_006218.4(PIK3CA):c.2673T>C (p.Asp891=)
|
rs2108423966
|
|
NM_006218.4(PIK3CA):c.2679C>T (p.Ala893=)
|
rs1576947998
|
|
NM_006218.4(PIK3CA):c.267T>G (p.Leu89=)
|
rs372013414
|
|
NM_006218.4(PIK3CA):c.2695C>T (p.Arg899Cys)
|
|
|
NM_006218.4(PIK3CA):c.2696G>A (p.Arg899His)
|
rs1725176691
|
|
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val)
|
rs1553825421
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
NM_006218.4(PIK3CA):c.274C>A (p.Leu92Ile)
|
rs1724342021
|
|
NM_006218.4(PIK3CA):c.2784+5T>C
|
|
|
NM_006218.4(PIK3CA):c.2785-4A>G
|
rs1725180228
|
|
NM_006218.4(PIK3CA):c.2785-5G>T
|
rs2108424731
|
|
NM_006218.4(PIK3CA):c.2785C>T (p.Leu929=)
|
|
|
NM_006218.4(PIK3CA):c.2787G>C (p.Leu929=)
|
|
|
NM_006218.4(PIK3CA):c.2823G>A (p.Lys941=)
|
|
|
NM_006218.4(PIK3CA):c.2845C>T (p.Arg949Ter)
|
rs2108425013
|
|
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=)
|
rs1282232507
|
|
NM_006218.4(PIK3CA):c.2861T>A (p.Phe954Tyr)
|
rs2108425090
|
|
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys)
|
rs1576948107
|
|
NM_006218.4(PIK3CA):c.2882T>C (p.Leu961Ser)
|
|
|
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)
|
rs2108425281
|
|
NM_006218.4(PIK3CA):c.2910A>G (p.Glu970=)
|
|
|
NM_006218.4(PIK3CA):c.2913C>T (p.Cys971=)
|
rs2108425304
|
|
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile)
|
rs1553825480
|
|
NM_006218.4(PIK3CA):c.2922A>G (p.Thr974=)
|
|
|
NM_006218.4(PIK3CA):c.2936+11G>A
|
|
|
NM_006218.4(PIK3CA):c.2936+18A>G
|
rs770971084
|
|
NM_006218.4(PIK3CA):c.2936+8C>A
|
|
|
NM_006218.4(PIK3CA):c.2937-13T>C
|
|
|
NM_006218.4(PIK3CA):c.2946G>A (p.Glu982=)
|
rs2108428967
|
|
NM_006218.4(PIK3CA):c.2948T>A (p.Met983Lys)
|
|
|
NM_006218.4(PIK3CA):c.2958G>A (p.Lys986=)
|
rs2108429006
|
|
NM_006218.4(PIK3CA):c.2964T>C (p.Tyr988=)
|
rs1725278470
|
|
NM_006218.4(PIK3CA):c.2969C>G (p.Ala990Gly)
|
rs1725278653
|
|
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln)
|
rs1560150481
|
|
NM_006218.4(PIK3CA):c.2987A>G (p.Asn996Ser)
|
|
|
NM_006218.4(PIK3CA):c.2991C>T (p.Leu997=)
|
rs1381822974
|
|
NM_006218.4(PIK3CA):c.2997A>C (p.Ile999=)
|
|
|
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs)
|
rs1560137030
|
|
NM_006218.4(PIK3CA):c.3009A>G (p.Ser1003=)
|
rs2108429258
|
|
NM_006218.4(PIK3CA):c.3012G>T (p.Met1004Ile)
|
|
|
NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu)
|
rs1724342655
|
|
NM_006218.4(PIK3CA):c.3024T>C (p.Ser1008=)
|
|
|
NM_006218.4(PIK3CA):c.3056T>C (p.Ile1019Thr)
|
rs1725280610
|
|
NM_006218.4(PIK3CA):c.3060A>G (p.Ala1020=)
|
rs1725280697
|
|
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys)
|
rs121913288
|
|
NM_006218.4(PIK3CA):c.3081C>G (p.Ala1027=)
|
rs745464581
|
|
NM_006218.4(PIK3CA):c.3087T>C (p.Asp1029=)
|
|
|
NM_006218.4(PIK3CA):c.30G>A (p.Leu10=)
|
rs758862912
|
|
NM_006218.4(PIK3CA):c.311C>G (p.Pro104Arg)
|
rs863225060
|
|
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)
|
rs863225060
|
|
NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=)
|
rs1725282114
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser)
|
rs1064793838
|
|
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys)
|
rs1576949960
|
|
NM_006218.4(PIK3CA):c.3138A>C (p.Ala1046=)
|
rs1215652300
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3139_3140delinsAT (p.His1047Ile)
|
rs1725283257
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3144T>C (p.His1048=)
|
rs1725283801
|
|
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)
|
rs121913277
|
|
NM_006218.4(PIK3CA):c.314T>C (p.Val105Ala)
|
|
|
NM_006218.4(PIK3CA):c.315A>G (p.Val105=)
|
|
|
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)
|
rs1057519930
|
|
NM_006218.4(PIK3CA):c.3180C>T (p.His1060=)
|
|
|
NM_006218.4(PIK3CA):c.3194A>T (p.His1065Leu)
|
rs1560150596
|
|
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)
|
rs1253171657
|
|
NM_006218.4(PIK3CA):c.3198A>T (p.Ala1066=)
|
|
|
NM_006218.4(PIK3CA):c.3203A>T (p.Asn1068Ile)
|
rs1725284914
|
|
NM_006218.4(PIK3CA):c.321C>T (p.Asn107=)
|
rs1576932042
|
|
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del)
|
rs1553820399
|
|
NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp)
|
rs1060500031
|
|
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)
|
rs1057519934
|
|
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)
|
|
|
NM_006218.4(PIK3CA):c.352+10A>C
|
rs2108386513
|
|
NM_006218.4(PIK3CA):c.352+6A>G
|
|
|
NM_006218.4(PIK3CA):c.352+9C>T
|
rs1177991438
|
|
NM_006218.4(PIK3CA):c.353-17A>G
|
|
|
NM_006218.4(PIK3CA):c.353-18T>C
|
|
|
NM_006218.4(PIK3CA):c.353-2dup
|
rs1181503590
|
|
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)
|
rs587777790
|
|
NM_006218.4(PIK3CA):c.367A>G (p.Met123Val)
|
rs1724359925
|
|
NM_006218.4(PIK3CA):c.373G>A (p.Val125Met)
|
rs1724360010
|
|
NM_006218.4(PIK3CA):c.37A>G (p.Ile13Val)
|
rs2108385090
|
|
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly)
|
rs1553820490
|
|
NM_006218.4(PIK3CA):c.389T>C (p.Met130Thr)
|
rs1724360472
|
|
NM_006218.4(PIK3CA):c.396A>C (p.Lys132Asn)
|
|
|
NM_006218.4(PIK3CA):c.402A>T (p.Pro134=)
|
rs1051402
|
|
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)
|
rs1576931874
|
|
NM_006218.4(PIK3CA):c.417C>T (p.Phe139=)
|
rs2108387358
|
|
NM_006218.4(PIK3CA):c.42C>T (p.His14=)
|
|
|
NM_006218.4(PIK3CA):c.449C>T (p.Ala150Val)
|
|
|
NM_006218.4(PIK3CA):c.451G>A (p.Val151Met)
|
|
|
NM_006218.4(PIK3CA):c.45G>C (p.Leu15Phe)
|
|
|
NM_006218.4(PIK3CA):c.463G>C (p.Asp155His)
|
rs1724363908
|
|
NM_006218.4(PIK3CA):c.466C>G (p.Leu156Val)
|
|
|
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu)
|
rs200762923
|
|
NM_006218.4(PIK3CA):c.476_478del (p.Pro159del)
|
rs1724364548
|
|
NM_006218.4(PIK3CA):c.480T>C (p.His160=)
|
rs2108387648
|
|
NM_006218.4(PIK3CA):c.481A>G (p.Ser161Gly)
|
|
|
NM_006218.4(PIK3CA):c.489A>G (p.Ala163=)
|
rs201815341
|
|
NM_006218.4(PIK3CA):c.493T>C (p.Tyr165His)
|
|
|
NM_006218.4(PIK3CA):c.522A>T (p.Ser174=)
|
rs1424220720
|
|
NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu)
|
rs1175225456
|
|
NM_006218.4(PIK3CA):c.54A>C (p.Pro18=)
|
|
|
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu)
|
rs1576932528
|
|
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr)
|
rs1553820520
|
|
NM_006218.4(PIK3CA):c.562+16A>G
|
|
|
NM_006218.4(PIK3CA):c.563-14T>A
|
|
|
NM_006218.4(PIK3CA):c.563-16T>C
|
rs2108389237
|
|
NM_006218.4(PIK3CA):c.579G>A (p.Val193=)
|
rs2108389337
|
|
NM_006218.4(PIK3CA):c.586G>A (p.Val196Ile)
|
rs541134560
|
|
NM_006218.4(PIK3CA):c.586G>T (p.Val196Leu)
|
|
|
NM_006218.4(PIK3CA):c.594T>C (p.Val198=)
|
rs2108389396
|
|
NM_006218.4(PIK3CA):c.596C>A (p.Ser199Tyr)
|
|
|
NM_006218.4(PIK3CA):c.609C>T (p.Asp203=)
|
|
|
NM_006218.4(PIK3CA):c.611A>C (p.Lys204Thr)
|
rs1724404532
|
|
NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg)
|
rs1724404532
|
|
NM_006218.4(PIK3CA):c.618G>A (p.Lys206=)
|
|
|
NM_006218.4(PIK3CA):c.61C>A (p.Leu21Ile)
|
|
|
NM_006218.4(PIK3CA):c.61C>T (p.Leu21=)
|
rs781473521
|
|
NM_006218.4(PIK3CA):c.621T>C (p.Tyr207=)
|
|
|
NM_006218.4(PIK3CA):c.636C>T (p.Asn212=)
|
rs1060503811
|
|
NM_006218.4(PIK3CA):c.649C>T (p.Pro217Ser)
|
|
|
NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val)
|
rs1724405654
|
|
NM_006218.4(PIK3CA):c.676A>C (p.Arg226=)
|
|
|
NM_006218.4(PIK3CA):c.699G>A (p.Leu233=)
|
|
|
NM_006218.4(PIK3CA):c.705C>A (p.Ser235=)
|
rs879254356
|
|
NM_006218.4(PIK3CA):c.705C>T (p.Ser235=)
|
rs879254356
|
|
NM_006218.4(PIK3CA):c.717A>G (p.Leu239=)
|
|
|
NM_006218.4(PIK3CA):c.719A>C (p.Lys240Thr)
|
rs2108389866
|
|
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)
|
rs1553820694
|
|
NM_006218.4(PIK3CA):c.747G>A (p.Lys249=)
|
|
|
NM_006218.4(PIK3CA):c.753T>A (p.Ile251=)
|
|
|
NM_006218.4(PIK3CA):c.762G>A (p.Val254=)
|
|
|
NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr)
|
rs1060500032
|
|
NM_006218.4(PIK3CA):c.768A>G (p.Gly256=)
|
|
|
NM_006218.4(PIK3CA):c.788A>G (p.Glu263Gly)
|
|
|
NM_006218.4(PIK3CA):c.813+15_813+16delinsAT
|
rs2108390298
|
|
NM_006218.4(PIK3CA):c.814-15del
|
|
|
NM_006218.4(PIK3CA):c.831_833del (p.Ile277del)
|
rs2108392531
|
|
NM_006218.4(PIK3CA):c.835C>T (p.Leu279Phe)
|
rs1260908401
|
|
NM_006218.4(PIK3CA):c.847C>G (p.Pro283Ala)
|
|
|
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=)
|
rs1553821070
|
|
NM_006218.4(PIK3CA):c.851A>G (p.Asn284Ser)
|
|
|
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs)
|
rs1576934610
|
|
NM_006218.4(PIK3CA):c.853T>C (p.Leu285=)
|
|
|
NM_006218.4(PIK3CA):c.863T>C (p.Met288Thr)
|
rs2108392669
|
|
NM_006218.4(PIK3CA):c.876C>T (p.Ser292=)
|
rs1244477182
|
|
NM_006218.4(PIK3CA):c.894A>G (p.Pro298=)
|
|
|
NM_006218.4(PIK3CA):c.895A>G (p.Met299Val)
|
rs779900475
|
|
NM_006218.4(PIK3CA):c.910A>G (p.Met304Val)
|
rs754602413
|
|
NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu)
|
rs1724335079
|
|
NM_006218.4(PIK3CA):c.928C>T (p.Arg310Cys)
|
rs780572147
|
|
NM_006218.4(PIK3CA):c.932T>C (p.Ile311Thr)
|
|
|
NM_006218.4(PIK3CA):c.939A>G (p.Thr313=)
|
rs1382139686
|
|
NM_006218.4(PIK3CA):c.952A>G (p.Met318Val)
|
|
|
NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp)
|
rs1724480940
|
|
NM_006218.4(PIK3CA):c.971C>T (p.Thr324Ile)
|
|
|
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile)
|
rs1262394031
|
|
NM_006218.4(PIK3CA):c.997G>T (p.Ala333Ser)
|
rs1724482664
|
|
NM_006218.4(PIK3CA):c.998C>T (p.Ala333Val)
|
rs759611407
|
|
PTEN, DEL
|
|
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