NM_001126049.2(KLLN):c.-956G>T
|
rs34149102
|
0.00683
|
NM_000314.8(PTEN):c.*1745G>A
|
rs116248217
|
0.00644
|
NM_006218.4(PIK3CA):c.-138C>T
|
rs149946088
|
0.00383
|
NM_006218.4(PIK3CA):c.1146-30G>A
|
rs8192676
|
0.00308
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
NM_000314.8(PTEN):c.254-34T>G
|
rs34047313
|
0.00200
|
NM_000314.8(PTEN):c.209+84G>A
|
rs185262832
|
0.00199
|
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)
|
rs147410912
|
0.00176
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_006218.4(PIK3CA):c.1665-44C>A
|
rs141589697
|
0.00167
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
NM_000314.8(PTEN):c.801+23G>A
|
rs116160352
|
0.00091
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu)
|
rs398123328
|
0.00068
|
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)
|
rs56289559
|
0.00063
|
NM_000314.8(PTEN):c.*421T>C
|
rs141648241
|
0.00051
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_006218.4(PIK3CA):c.1747-9C>T
|
rs201779641
|
0.00046
|
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)
|
rs146875699
|
0.00045
|
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=)
|
rs139394285
|
0.00043
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_000314.8(PTEN):c.802-34C>A
|
rs531071483
|
0.00039
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
NM_006218.4(PIK3CA):c.352+11A>G
|
rs201605394
|
0.00033
|
NM_006218.4(PIK3CA):c.2015+9A>G
|
rs200768351
|
0.00032
|
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)
|
rs372784283
|
0.00031
|
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_006363.6(SEC23B):c.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.280-6T>C
|
rs370880370
|
0.00028
|
NM_001382430.1(AKT1):c.126G>A (p.Pro42=)
|
rs375645311
|
0.00025
|
NM_006218.4(PIK3CA):c.1530C>T (p.His510=)
|
rs200934230
|
0.00025
|
NM_006218.4(PIK3CA):c.2666+11T>G
|
rs201113847
|
0.00024
|
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)
|
rs530834583
|
0.00023
|
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=)
|
rs1131681
|
0.00022
|
NM_006218.4(PIK3CA):c.2295-19G>C
|
rs188003220
|
0.00021
|
NM_006363.6(SEC23B):c.279+18A>T
|
rs769730409
|
0.00021
|
NM_001382430.1(AKT1):c.1227C>T (p.Ala409=)
|
rs141303557
|
0.00019
|
NM_006218.4(PIK3CA):c.814-15C>G
|
rs201682277
|
0.00019
|
NM_001382430.1(AKT1):c.783G>A (p.Leu261=)
|
rs143933508
|
0.00017
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
0.00017
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_000314.8(PTEN):c.802-12T>C
|
rs587781129
|
0.00015
|
NM_001382430.1(AKT1):c.406G>A (p.Val136Met)
|
rs778376616
|
0.00015
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
NM_000314.8(PTEN):c.-734G>A
|
rs786205432
|
0.00013
|
NM_001382430.1(AKT1):c.855C>T (p.Asp285=)
|
rs149484260
|
0.00013
|
NM_000314.8(PTEN):c.1197A>G (p.Gln399=)
|
rs374684043
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000314.8(PTEN):c.254-39G>T
|
rs35034871
|
0.00011
|
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=)
|
rs184263655
|
0.00011
|
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)
|
rs200868796
|
0.00011
|
NM_006218.4(PIK3CA):c.548A>G (p.Asn183Ser)
|
rs767439253
|
0.00011
|
NM_006363.6(SEC23B):c.835-11C>T
|
rs370797703
|
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_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_001382430.1(AKT1):c.1107G>A (p.Pro369=)
|
rs150399268
|
0.00009
|
NM_001382430.1(AKT1):c.1261-18G>A
|
rs376284145
|
0.00009
|
NM_001382430.1(AKT1):c.1329G>A (p.Thr443=)
|
rs376893212
|
0.00009
|
NM_001382430.1(AKT1):c.47-13C>T
|
rs529203460
|
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_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
NM_000314.8(PTEN):c.*601A>G
|
rs371547288
|
0.00008
|
NM_001382430.1(AKT1):c.906C>T (p.Asp302=)
|
rs746001369
|
0.00008
|
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_001382430.1(AKT1):c.46+19G>A
|
rs769199033
|
0.00007
|
NM_006218.4(PIK3CA):c.1404+19T>G
|
rs200001396
|
0.00007
|
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=)
|
rs766473215
|
0.00007
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
NM_001382430.1(AKT1):c.1233C>T (p.Ile411=)
|
rs375901448
|
0.00006
|
NM_001382430.1(AKT1):c.435+17C>T
|
rs372112260
|
0.00006
|
NM_001382430.1(AKT1):c.798G>A (p.Ser266=)
|
rs367635775
|
0.00006
|
NM_001382430.1(AKT1):c.828+10C>T
|
rs370490407
|
0.00006
|
NM_001382430.1(AKT1):c.879C>T (p.Phe293=)
|
rs139200289
|
0.00006
|
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)
|
rs200671534
|
0.00006
|
NM_006218.4(PIK3CA):c.529T>C (p.Leu177=)
|
rs759712592
|
0.00006
|
NM_000314.8(PTEN):c.*5T>C
|
rs1006891299
|
0.00005
|
NM_000314.8(PTEN):c.-837C>T
|
rs786204940
|
0.00005
|
NM_001382430.1(AKT1):c.195G>A (p.Thr65=)
|
rs768384015
|
0.00005
|
NM_001382430.1(AKT1):c.570C>T (p.Asp190=)
|
rs780207480
|
0.00005
|
NM_001382430.1(AKT1):c.9C>T (p.Asp3=)
|
rs56217512
|
0.00005
|
NM_000314.8(PTEN):c.612A>G (p.Pro204=)
|
rs539074063
|
0.00004
|
NM_001382430.1(AKT1):c.1122C>T (p.Pro374=)
|
rs374865919
|
0.00004
|
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)
|
rs151254374
|
0.00004
|
NM_001382430.1(AKT1):c.1431C>T (p.Ser477=)
|
rs200213561
|
0.00004
|
NM_001382430.1(AKT1):c.176-4G>A
|
rs776399604
|
0.00004
|
NM_001382430.1(AKT1):c.237G>A (p.Gln79=)
|
rs747020429
|
0.00004
|
NM_001382430.1(AKT1):c.287+16C>T
|
rs751067863
|
0.00004
|
NM_001382430.1(AKT1):c.315T>C (p.Thr105=)
|
rs767715614
|
0.00004
|
NM_001382430.1(AKT1):c.324C>T (p.Asp108=)
|
rs940028787
|
0.00004
|
NM_001382430.1(AKT1):c.444C>T (p.Asn148=)
|
rs752894366
|
0.00004
|
NM_001382430.1(AKT1):c.483C>T (p.Phe161=)
|
rs139904675
|
0.00004
|
NM_001382430.1(AKT1):c.528C>T (p.Tyr176=)
|
rs1422460834
|
0.00004
|
NM_001382430.1(AKT1):c.660C>T (p.His220=)
|
rs141168205
|
0.00004
|
NM_001382430.1(AKT1):c.702+17C>T
|
rs372953510
|
0.00004
|
NM_001382430.1(AKT1):c.951C>A (p.Ala317=)
|
rs17846831
|
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.2040T>C (p.Val680=)
|
rs201402676
|
0.00004
|
NM_006218.4(PIK3CA):c.2936+9G>A
|
rs756341833
|
0.00004
|
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=)
|
rs778443189
|
0.00004
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000314.8(PTEN):c.159A>G (p.Val53=)
|
rs189583426
|
0.00003
|
NM_000314.8(PTEN):c.635-16G>A
|
rs750772657
|
0.00003
|
NM_000314.8(PTEN):c.79+16G>C
|
rs768604051
|
0.00003
|
NM_000314.8(PTEN):c.801+18A>T
|
rs777679092
|
0.00003
|
NM_000314.8(PTEN):c.855A>G (p.Glu285=)
|
rs751888926
|
0.00003
|
NM_001382430.1(AKT1):c.1053C>T (p.Asn351=)
|
rs376942361
|
0.00003
|
NM_001382430.1(AKT1):c.120G>A (p.Glu40=)
|
rs370287382
|
0.00003
|
NM_001382430.1(AKT1):c.1260+16G>A
|
rs768750733
|
0.00003
|
NM_001382430.1(AKT1):c.1364-10A>G
|
rs755530413
|
0.00003
|
NM_001382430.1(AKT1):c.47-9C>T
|
rs776342530
|
0.00003
|
NM_001382430.1(AKT1):c.567+8C>T
|
rs752874396
|
0.00003
|
NM_001382430.1(AKT1):c.633+15A>G
|
rs770757599
|
0.00003
|
NM_003002.4(SDHD):c.170-19A>G
|
rs1296685617
|
0.00003
|
NM_003002.4(SDHD):c.282C>T (p.Ser94=)
|
rs781182616
|
0.00003
|
NM_003002.4(SDHD):c.315-14T>C
|
rs1406470864
|
0.00003
|
NM_003002.4(SDHD):c.52+13C>G
|
rs954474648
|
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.2496A>G (p.Arg832=)
|
rs201269713
|
0.00003
|
NM_000314.8(PTEN):c.-280C>T
|
rs571072832
|
0.00002
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
NM_000314.8(PTEN):c.1086A>G (p.Ser362=)
|
rs761948873
|
0.00002
|
NM_000314.8(PTEN):c.209+10T>C
|
rs770451470
|
0.00002
|
NM_000314.8(PTEN):c.261A>G (p.Gln87=)
|
rs149772796
|
0.00002
|
NM_000314.8(PTEN):c.411A>G (p.Ala137=)
|
rs144545031
|
0.00002
|
NM_000314.8(PTEN):c.456A>G (p.Leu152=)
|
rs779626613
|
0.00002
|
NM_000314.8(PTEN):c.802-13T>C
|
rs540097879
|
0.00002
|
NM_000314.8(PTEN):c.900C>T (p.Ile300=)
|
rs550122918
|
0.00002
|
NM_001382430.1(AKT1):c.1260+15C>T
|
rs774786647
|
0.00002
|
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=)
|
rs555187157
|
0.00002
|
NM_001382430.1(AKT1):c.287+17G>A
|
rs763570822
|
0.00002
|
NM_001382430.1(AKT1):c.303C>T (p.Thr101=)
|
rs750890213
|
0.00002
|
NM_001382430.1(AKT1):c.453G>A (p.Glu151=)
|
rs765537155
|
0.00002
|
NM_001382430.1(AKT1):c.567+9G>A
|
rs200724383
|
0.00002
|
NM_001382430.1(AKT1):c.606G>A (p.Leu202=)
|
rs759079296
|
0.00002
|
NM_001382430.1(AKT1):c.634-13C>T
|
rs754944632
|
0.00002
|
NM_001382430.1(AKT1):c.687C>T (p.Tyr229=)
|
rs769696222
|
0.00002
|
NM_001382430.1(AKT1):c.696G>A (p.Gly232=)
|
rs201006619
|
0.00002
|
NM_001382430.1(AKT1):c.6C>T (p.Ser2=)
|
rs371534192
|
0.00002
|
NM_001382430.1(AKT1):c.702+18G>A
|
rs750119740
|
0.00002
|
NM_001382430.1(AKT1):c.703-5C>T
|
rs377077146
|
0.00002
|
NM_001382430.1(AKT1):c.738C>T (p.Ser246=)
|
rs368667384
|
0.00002
|
NM_003002.4(SDHD):c.18G>A (p.Arg6=)
|
rs200895313
|
0.00002
|
NM_003002.4(SDHD):c.228C>T (p.Leu76=)
|
rs148634289
|
0.00002
|
NM_003002.4(SDHD):c.366A>G (p.Lys122=)
|
rs780764151
|
0.00002
|
NM_003002.4(SDHD):c.435C>T (p.His145=)
|
rs200062830
|
0.00002
|
NM_003002.4(SDHD):c.438T>C (p.Asp146=)
|
rs201328474
|
0.00002
|
NM_003002.4(SDHD):c.52+8G>A
|
rs370761122
|
0.00002
|
NM_006218.4(PIK3CA):c.1059+19G>A
|
rs201940827
|
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.3042A>G (p.Gln1014=)
|
rs527991739
|
0.00002
|
NM_006218.4(PIK3CA):c.312A>G (p.Pro104=)
|
rs1242038507
|
0.00002
|
NM_006218.4(PIK3CA):c.435C>T (p.Asn145=)
|
rs1051404
|
0.00002
|
NM_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)
|
rs368413002
|
0.00002
|
NM_000314.8(PTEN):c.1003C>A (p.Arg335=)
|
rs121909231
|
0.00001
|
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=)
|
rs786201816
|
0.00001
|
NM_000314.8(PTEN):c.1027-8T>C
|
rs776676859
|
0.00001
|
NM_000314.8(PTEN):c.1050A>G (p.Thr350=)
|
rs769324650
|
0.00001
|
NM_000314.8(PTEN):c.1062G>A (p.Pro354=)
|
rs786202751
|
0.00001
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
NM_000314.8(PTEN):c.1203A>G (p.Thr401=)
|
rs876659102
|
0.00001
|
NM_000314.8(PTEN):c.1209C>G (p.Val403=)
|
rs1860740348
|
0.00001
|
NM_000314.8(PTEN):c.164+12T>C
|
rs1057521654
|
0.00001
|
NM_000314.8(PTEN):c.165-9T>G
|
rs878853934
|
0.00001
|
NM_000314.8(PTEN):c.204C>T (p.Tyr68=)
|
rs773176120
|
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.210-17T>G
|
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.253+14T>A
|
rs1057520635
|
0.00001
|
NM_000314.8(PTEN):c.253+4G>A
|
rs1060500112
|
0.00001
|
NM_000314.8(PTEN):c.254-17T>G
|
rs1057520819
|
0.00001
|
NM_000314.8(PTEN):c.258A>G (p.Ala86=)
|
rs587780710
|
0.00001
|
NM_000314.8(PTEN):c.288A>G (p.Pro96=)
|
rs746661067
|
0.00001
|
NM_000314.8(PTEN):c.294A>G (p.Leu98=)
|
rs770224289
|
0.00001
|
NM_000314.8(PTEN):c.321T>C (p.Asp107=)
|
rs372876243
|
0.00001
|
NM_000314.8(PTEN):c.360A>C (p.Ala120=)
|
rs759485888
|
0.00001
|
NM_000314.8(PTEN):c.441G>A (p.Lys147=)
|
rs1564830394
|
0.00001
|
NM_000314.8(PTEN):c.480C>T (p.Thr160=)
|
rs746574957
|
0.00001
|
NM_000314.8(PTEN):c.48T>C (p.Tyr16=)
|
rs587782187
|
0.00001
|
NM_000314.8(PTEN):c.492+15G>T
|
rs1380149618
|
0.00001
|
NM_000314.8(PTEN):c.492+31T>C
|
rs1320105617
|
0.00001
|
NM_000314.8(PTEN):c.606T>C (p.Thr202=)
|
rs1242879806
|
0.00001
|
NM_000314.8(PTEN):c.624C>T (p.Gly208=)
|
rs370162160
|
0.00001
|
NM_000314.8(PTEN):c.635-14A>G
|
rs758742080
|
0.00001
|
NM_000314.8(PTEN):c.635-8C>A
|
rs780495238
|
0.00001
|
NM_000314.8(PTEN):c.693C>T (p.Pro231=)
|
rs1064795327
|
0.00001
|
NM_000314.8(PTEN):c.711G>A (p.Lys237=)
|
rs773353820
|
0.00001
|
NM_000314.8(PTEN):c.723T>C (p.Phe241=)
|
rs17849090
|
0.00001
|
NM_000314.8(PTEN):c.72C>T (p.Asp24=)
|
rs1320222638
|
0.00001
|
NM_000314.8(PTEN):c.732T>C (p.Pro244=)
|
rs1425663292
|
0.00001
|
NM_000314.8(PTEN):c.738G>A (p.Pro246=)
|
rs774364894
|
0.00001
|
NM_000314.8(PTEN):c.750T>C (p.Cys250=)
|
rs767623493
|
0.00001
|
NM_000314.8(PTEN):c.75G>A (p.Leu25=)
|
rs786201506
|
0.00001
|
NM_000314.8(PTEN):c.783G>A (p.Gln261=)
|
rs760146269
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_000314.8(PTEN):c.79+15G>T
|
rs1269898602
|
0.00001
|
NM_000314.8(PTEN):c.79+7A>G
|
rs374331677
|
0.00001
|
NM_000314.8(PTEN):c.80-11A>G
|
rs776590293
|
0.00001
|
NM_000314.8(PTEN):c.80-14A>T
|
rs768354874
|
0.00001
|
NM_000314.8(PTEN):c.801+14T>C
|
rs1459692246
|
0.00001
|
NM_000314.8(PTEN):c.801+19T>C
|
rs780407190
|
0.00001
|
NM_000314.8(PTEN):c.801+8C>G
|
rs1057517630
|
0.00001
|
NM_000314.8(PTEN):c.802-17T>C
|
rs1057520419
|
0.00001
|
NM_000314.8(PTEN):c.802-4T>C
|
rs753469080
|
0.00001
|
NM_000314.8(PTEN):c.858C>G (p.Thr286=)
|
rs876660443
|
0.00001
|
NM_000314.8(PTEN):c.885A>G (p.Leu295=)
|
rs587780713
|
0.00001
|
NM_000314.8(PTEN):c.93C>T (p.Asn31=)
|
rs1170214930
|
0.00001
|
NM_000314.8(PTEN):c.948A>G (p.Leu316=)
|
rs775997892
|
0.00001
|
NM_000314.8(PTEN):c.981A>G (p.Lys327=)
|
rs772872626
|
0.00001
|
NM_001382430.1(AKT1):c.1011G>A (p.Val337=)
|
rs1043166019
|
0.00001
|
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=)
|
rs1566816352
|
0.00001
|
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=)
|
rs1595241867
|
0.00001
|
NM_001382430.1(AKT1):c.1134C>T (p.Ser378=)
|
rs369527283
|
0.00001
|
NM_001382430.1(AKT1):c.1172+10G>A
|
rs200702576
|
0.00001
|
NM_001382430.1(AKT1):c.1172+16C>G
|
rs759249014
|
0.00001
|
NM_001382430.1(AKT1):c.1172+4A>C
|
rs1319947920
|
0.00001
|
NM_001382430.1(AKT1):c.1172+9C>T
|
rs529348439
|
0.00001
|
NM_001382430.1(AKT1):c.1173-6C>G
|
rs1036107517
|
0.00001
|
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=)
|
rs748654766
|
0.00001
|
NM_001382430.1(AKT1):c.1245C>T (p.His415=)
|
rs758476416
|
0.00001
|
NM_001382430.1(AKT1):c.1260+18A>G
|
rs762981122
|
0.00001
|
NM_001382430.1(AKT1):c.1260+7C>T
|
rs750823961
|
0.00001
|
NM_001382430.1(AKT1):c.1261-10A>C
|
rs1278310321
|
0.00001
|
NM_001382430.1(AKT1):c.1261-19C>T
|
rs1443985201
|
0.00001
|
NM_001382430.1(AKT1):c.1261-20C>T
|
rs771248358
|
0.00001
|
NM_001382430.1(AKT1):c.1290G>A (p.Thr430=)
|
rs779447501
|
0.00001
|
NM_001382430.1(AKT1):c.1293G>A (p.Ser431=)
|
rs750104452
|
0.00001
|
NM_001382430.1(AKT1):c.132T>C (p.Asp44=)
|
rs1347356104
|
0.00001
|
NM_001382430.1(AKT1):c.1363+9C>T
|
rs926451222
|
0.00001
|
NM_001382430.1(AKT1):c.176-8G>A
|
rs1060504818
|
0.00001
|
NM_001382430.1(AKT1):c.201G>T (p.Arg67=)
|
rs1452532489
|
0.00001
|
NM_001382430.1(AKT1):c.252C>T (p.Ile84=)
|
rs1027097620
|
0.00001
|
NM_001382430.1(AKT1):c.267T>C (p.His89=)
|
rs142646145
|
0.00001
|
NM_001382430.1(AKT1):c.294G>A (p.Glu98=)
|
rs766755485
|
0.00001
|
NM_001382430.1(AKT1):c.387A>G (p.Ser129=)
|
rs747700076
|
0.00001
|
NM_001382430.1(AKT1):c.436-18C>A
|
rs746274769
|
0.00001
|
NM_001382430.1(AKT1):c.438C>T (p.Thr146=)
|
rs145780379
|
0.00001
|
NM_001382430.1(AKT1):c.457C>T (p.Leu153=)
|
rs149803079
|
0.00001
|
NM_001382430.1(AKT1):c.46+10C>T
|
rs372014221
|
0.00001
|
NM_001382430.1(AKT1):c.47-5T>C
|
rs746664907
|
0.00001
|
NM_001382430.1(AKT1):c.495C>T (p.Ile165=)
|
rs1161567933
|
0.00001
|
NM_001382430.1(AKT1):c.525C>T (p.Tyr175=)
|
rs774828129
|
0.00001
|
NM_001382430.1(AKT1):c.568-14_568-11dup
|
rs745536266
|
0.00001
|
NM_001382430.1(AKT1):c.591C>T (p.Thr197=)
|
rs763782135
|
0.00001
|
NM_001382430.1(AKT1):c.633+9G>A
|
rs1238078801
|
0.00001
|
NM_001382430.1(AKT1):c.684G>A (p.Glu228=)
|
rs1276744835
|
0.00001
|
NM_001382430.1(AKT1):c.693C>T (p.Asn231=)
|
rs767346459
|
0.00001
|
NM_001382430.1(AKT1):c.703-12C>T
|
rs753076466
|
0.00001
|
NM_001382430.1(AKT1):c.703-4G>A
|
rs776642823
|
0.00001
|
NM_001382430.1(AKT1):c.705G>T (p.Leu235=)
|
rs769090254
|
0.00001
|
NM_001382430.1(AKT1):c.810G>A (p.Val270=)
|
rs2230508
|
0.00001
|
NM_001382430.1(AKT1):c.876C>T (p.Asp292=)
|
rs761942512
|
0.00001
|
NM_001382430.1(AKT1):c.957+17C>T
|
rs191423993
|
0.00001
|
NM_001382430.1(AKT1):c.957+7G>A
|
rs771514399
|
0.00001
|
NM_001382430.1(AKT1):c.978C>T (p.Tyr326=)
|
rs55874341
|
0.00001
|
NM_003002.4(SDHD):c.141G>A (p.Gln47=)
|
rs1217254088
|
0.00001
|
NM_003002.4(SDHD):c.159G>A (p.Pro53=)
|
rs201368675
|
0.00001
|
NM_003002.4(SDHD):c.170-12T>C
|
rs764191089
|
0.00001
|
NM_003002.4(SDHD):c.170-18A>C
|
rs1402144794
|
0.00001
|
NM_003002.4(SDHD):c.170-6T>C
|
rs753703004
|
0.00001
|
NM_003002.4(SDHD):c.21G>A (p.Leu7=)
|
rs974401612
|
0.00001
|
NM_003002.4(SDHD):c.231G>C (p.Leu77=)
|
rs1187106228
|
0.00001
|
NM_003002.4(SDHD):c.243G>C (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.264C>T (p.Cys88=)
|
rs761615413
|
0.00001
|
NM_003002.4(SDHD):c.270G>A (p.Ala90=)
|
rs766656463
|
0.00001
|
NM_003002.4(SDHD):c.297C>T (p.Leu99=)
|
rs749657880
|
0.00001
|
NM_003002.4(SDHD):c.314+12A>G
|
rs201163618
|
0.00001
|
NM_003002.4(SDHD):c.315-18T>G
|
rs1260988180
|
0.00001
|
NM_003002.4(SDHD):c.327A>G (p.Gln109=)
|
rs1566702383
|
0.00001
|
NM_003002.4(SDHD):c.33C>T (p.Cys11=)
|
rs104894309
|
0.00001
|
NM_003002.4(SDHD):c.342T>C (p.Tyr114=)
|
rs1050032491
|
0.00001
|
NM_003002.4(SDHD):c.405C>A (p.Thr135=)
|
rs1555187606
|
0.00001
|
NM_003002.4(SDHD):c.52+19C>T
|
rs1566690388
|
0.00001
|
NM_003002.4(SDHD):c.53-10C>G
|
rs201350484
|
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.1252-10G>A
|
rs201600987
|
0.00001
|
NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=)
|
rs1060503812
|
0.00001
|
NM_006218.4(PIK3CA):c.1405-12T>C
|
rs747847214
|
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.1476T>A (p.Ile492=)
|
rs557949672
|
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.2115A>G (p.Gln705=)
|
rs1253775694
|
0.00001
|
NM_006218.4(PIK3CA):c.2118C>T (p.Val706=)
|
rs373861259
|
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.2295-15T>C
|
rs751310116
|
0.00001
|
NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=)
|
rs769405239
|
0.00001
|
NM_006218.4(PIK3CA):c.2409T>C (p.Asn803=)
|
rs1193928100
|
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.2550G>A (p.Val850=)
|
rs1253104649
|
0.00001
|
NM_006218.4(PIK3CA):c.2607A>T (p.Ala869=)
|
rs1165547628
|
0.00001
|
NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=)
|
rs199826066
|
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.2919G>A (p.Lys973=)
|
rs369770518
|
0.00001
|
NM_006218.4(PIK3CA):c.291C>T (p.Pro97=)
|
rs1051400
|
0.00001
|
NM_006218.4(PIK3CA):c.2937-17G>A
|
rs199707417
|
0.00001
|
NM_006218.4(PIK3CA):c.339C>G (p.Leu113=)
|
rs779052263
|
0.00001
|
NM_006218.4(PIK3CA):c.414C>T (p.Asp138=)
|
rs199543283
|
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.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.825C>T (p.Ser275=)
|
rs1724476990
|
0.00001
|
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=)
|
rs758029042
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.123C>T (p.Leu41=)
|
rs554409729
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)
|
rs921580564
|
0.00001
|
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)
|
rs779351917
|
0.00001
|
NM_006363.6(SEC23B):c.1992+12T>C
|
rs780986610
|
0.00001
|
NM_006363.6(SEC23B):c.711G>A (p.Lys237=)
|
rs773579451
|
0.00001
|
NM_000314.8(PTEN):c.*1131del
|
rs547262170
|
|
NM_000314.8(PTEN):c.*3448_*3463dup
|
rs763859619
|
|
NM_000314.8(PTEN):c.*3449_*3463dup
|
rs763859619
|
|
NM_000314.8(PTEN):c.*666dup
|
rs543873570
|
|
NM_000314.8(PTEN):c.-14A>C
|
rs755295390
|
|
NM_000314.8(PTEN):c.-500GGC[6]
|
rs1237307954
|
|
NM_000314.8(PTEN):c.-534G>T
|
rs886047385
|
|
NM_000314.8(PTEN):c.-675C>T
|
rs876661258
|
|
NM_000314.8(PTEN):c.-735G>A
|
rs886047384
|
|
NM_000314.8(PTEN):c.-802G>A
|
rs876661166
|
|
NM_000314.8(PTEN):c.1005A>G (p.Arg335=)
|
rs1303065649
|
|
NM_000314.8(PTEN):c.1005A>T (p.Arg335=)
|
rs1303065649
|
|
NM_000314.8(PTEN):c.1011T>C (p.Phe337=)
|
rs876659916
|
|
NM_000314.8(PTEN):c.1017A>G (p.Pro339=)
|
rs1554825644
|
|
NM_000314.8(PTEN):c.1026+10A>G
|
rs767777911
|
|
NM_000314.8(PTEN):c.1026+11_1026+15del
|
rs1564568719
|
|
NM_000314.8(PTEN):c.1026+38dup
|
rs767896771
|
|
NM_000314.8(PTEN):c.1026+7T>A
|
rs1589666333
|
|
NM_000314.8(PTEN):c.1026+9A>C
|
rs1554825657
|
|
NM_000314.8(PTEN):c.1027-12T>G
|
rs1057521732
|
|
NM_000314.8(PTEN):c.1027-14T>C
|
|
|
NM_000314.8(PTEN):c.1027-17A>T
|
rs1057520355
|
|
NM_000314.8(PTEN):c.1027-19T>C
|
|
|
NM_000314.8(PTEN):c.1027-4C>G
|
rs587782788
|
|
NM_000314.8(PTEN):c.1027-6C>A
|
rs1374474745
|
|
NM_000314.8(PTEN):c.1027-6C>T
|
rs1374474745
|
|
NM_000314.8(PTEN):c.1027-7T>C
|
rs2132289086
|
|
NM_000314.8(PTEN):c.1027-8_1027-5del
|
|
|
NM_000314.8(PTEN):c.1027-9T>C
|
rs1156734821
|
|
NM_000314.8(PTEN):c.1029G>A (p.Val343=)
|
rs1393550059
|
|
NM_000314.8(PTEN):c.102T>A (p.Ala34=)
|
rs1472278114
|
|
NM_000314.8(PTEN):c.1035G>A (p.Leu345=)
|
rs1564570289
|
|
NM_000314.8(PTEN):c.1038C>T (p.Tyr346=)
|
rs2132289237
|
|
NM_000314.8(PTEN):c.1041C>T (p.Phe347=)
|
rs1554826029
|
|
NM_000314.8(PTEN):c.1044A>G (p.Thr348=)
|
rs747606399
|
|
NM_000314.8(PTEN):c.1071A>G (p.Pro357=)
|
|
|
NM_000314.8(PTEN):c.1074G>A (p.Glu358=)
|
rs876659464
|
|
NM_000314.8(PTEN):c.1089T>C (p.Thr363=)
|
rs864622690
|
|
NM_000314.8(PTEN):c.108A>G (p.Gly36=)
|
rs985009599
|
|
NM_000314.8(PTEN):c.1092T>C (p.Ser364=)
|
rs1355576298
|
|
NM_000314.8(PTEN):c.1092T>G (p.Ser364=)
|
rs1355576298
|
|
NM_000314.8(PTEN):c.1098A>C (p.Thr366=)
|
rs1554826045
|
|
NM_000314.8(PTEN):c.1101A>G (p.Pro367=)
|
rs2132289693
|
|
NM_000314.8(PTEN):c.1107T>C (p.Val369=)
|
rs1554826048
|
|
NM_000314.8(PTEN):c.1116T>C (p.Asn372=)
|
rs1060503845
|
|
NM_000314.8(PTEN):c.1119A>G (p.Glu373=)
|
|
|
NM_000314.8(PTEN):c.1131T>C (p.Tyr377=)
|
rs1345063638
|
|
NM_000314.8(PTEN):c.1134A>G (p.Arg378=)
|
rs1554826056
|
|
NM_000314.8(PTEN):c.1137T>C (p.Tyr379=)
|
rs1295420243
|
|
NM_000314.8(PTEN):c.1143C>T (p.Asp381=)
|
rs2132290018
|
|
NM_000314.8(PTEN):c.1152C>T (p.Asp384=)
|
rs2132290073
|
|
NM_000314.8(PTEN):c.1155T>C (p.Ser385=)
|
rs1860738182
|
|
NM_000314.8(PTEN):c.1161A>G (p.Pro387=)
|
rs1057523975
|
|
NM_000314.8(PTEN):c.1170A>G (p.Glu390=)
|
rs1057524010
|
|
NM_000314.8(PTEN):c.1173T>C (p.Pro391=)
|
|
|
NM_000314.8(PTEN):c.117A>C (p.Ala39=)
|
rs1223327870
|
|
NM_000314.8(PTEN):c.1188G>A (p.Gln396=)
|
rs786202062
|
|
NM_000314.8(PTEN):c.1200T>A (p.Ile400=)
|
|
|
NM_000314.8(PTEN):c.129A>G (p.Glu43=)
|
rs1453337737
|
|
NM_000314.8(PTEN):c.12C>T (p.Ile4=)
|
rs2132145422
|
|
NM_000314.8(PTEN):c.132C>A (p.Gly44=)
|
rs150651961
|
|
NM_000314.8(PTEN):c.135A>G (p.Val45=)
|
rs959491852
|
|
NM_000314.8(PTEN):c.144C>T (p.Asn48=)
|
rs762518389
|
|
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
|
|
|
NM_000314.8(PTEN):c.156T>C (p.Asp52=)
|
rs1589617385
|
|
NM_000314.8(PTEN):c.15C>T (p.Ile5=)
|
|
|
NM_000314.8(PTEN):c.162A>G (p.Val54=)
|
|
|
NM_000314.8(PTEN):c.164+10C>T
|
rs1859100909
|
|
NM_000314.8(PTEN):c.164+20C>G
|
rs2132187978
|
|
NM_000314.8(PTEN):c.164+9G>T
|
|
|
NM_000314.8(PTEN):c.165-11T>A
|
|
|
NM_000314.8(PTEN):c.165-14dup
|
rs2132232028
|
|
NM_000314.8(PTEN):c.165-17G>A
|
|
|
NM_000314.8(PTEN):c.165-17G>C
|
rs898943632
|
|
NM_000314.8(PTEN):c.165-17G>T
|
rs898943632
|
|
NM_000314.8(PTEN):c.165-20T>C
|
rs1859801133
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.165-5T>G
|
|
|
NM_000314.8(PTEN):c.165-7T>C
|
rs572375431
|
|
NM_000314.8(PTEN):c.165-8G>A
|
rs2132232059
|
|
NM_000314.8(PTEN):c.165-8_165-4del
|
rs760571273
|
|
NM_000314.8(PTEN):c.174T>C (p.Asp58=)
|
rs769719835
|
|
NM_000314.8(PTEN):c.177A>G (p.Ser59=)
|
rs878853935
|
|
NM_000314.8(PTEN):c.180G>A (p.Lys60=)
|
rs972166984
|
|
NM_000314.8(PTEN):c.189C>T (p.Asn63=)
|
rs2132232254
|
|
NM_000314.8(PTEN):c.18A>G (p.Lys6=)
|
rs876660391
|
|
NM_000314.8(PTEN):c.195C>T (p.Tyr65=)
|
rs878853936
|
|
NM_000314.8(PTEN):c.201A>T (p.Ile67=)
|
rs2132232357
|
|
NM_000314.8(PTEN):c.207T>C (p.Asn69=)
|
|
|
NM_000314.8(PTEN):c.209+12T>G
|
|
|
NM_000314.8(PTEN):c.209+15T>A
|
|
|
NM_000314.8(PTEN):c.209+15T>G
|
|
|
NM_000314.8(PTEN):c.209+3A>G
|
rs786202612
|
|
NM_000314.8(PTEN):c.209+7A>G
|
rs1554897284
|
|
NM_000314.8(PTEN):c.209+9G>A
|
|
|
NM_000314.8(PTEN):c.209+9_209+10delinsCC
|
rs1060503841
|
|
NM_000314.8(PTEN):c.210-10T>C
|
rs2132238629
|
|
NM_000314.8(PTEN):c.210-11T>A
|
|
|
NM_000314.8(PTEN):c.210-12C>A
|
rs766570103
|
|
NM_000314.8(PTEN):c.210-13A>G
|
rs2132238614
|
|
NM_000314.8(PTEN):c.210-17T>A
|
rs750987148
|
|
NM_000314.8(PTEN):c.210-26A>T
|
rs776849737
|
|
NM_000314.8(PTEN):c.210-3dup
|
rs1064794464
|
|
NM_000314.8(PTEN):c.210-4T>C
|
rs1589644668
|
|
NM_000314.8(PTEN):c.210-5T>C
|
rs863224358
|
|
NM_000314.8(PTEN):c.210-6T>C
|
rs1057521210
|
|
NM_000314.8(PTEN):c.210-7C>A
|
|
|
NM_000314.8(PTEN):c.210-7C>G
|
|
|
NM_000314.8(PTEN):c.210-7C>T
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.210-7_210-4del
|
|
|
NM_000314.8(PTEN):c.210-8T>C
|
rs2132238637
|
|
NM_000314.8(PTEN):c.210-8T>G
|
|
|
NM_000314.8(PTEN):c.210-8dup
|
|
|
NM_000314.8(PTEN):c.216T>C (p.Ala72=)
|
rs1057520862
|
|
NM_000314.8(PTEN):c.222A>G (p.Arg74=)
|
rs781542973
|
|
NM_000314.8(PTEN):c.228T>C (p.Tyr76=)
|
rs1554897866
|
|
NM_000314.8(PTEN):c.231C>T (p.Asp77=)
|
rs755953294
|
|
NM_000314.8(PTEN):c.234C>A (p.Thr78=)
|
rs35917308
|
|
NM_000314.8(PTEN):c.234C>G (p.Thr78=)
|
rs35917308
|
|
NM_000314.8(PTEN):c.237C>G (p.Ala79=)
|
|
|
NM_000314.8(PTEN):c.237C>T (p.Ala79=)
|
|
|
NM_000314.8(PTEN):c.243T>C (p.Phe81=)
|
rs2132238960
|
|
NM_000314.8(PTEN):c.246T>C (p.Asn82=)
|
rs2132238982
|
|
NM_000314.8(PTEN):c.253+11A>C
|
|
|
NM_000314.8(PTEN):c.253+11A>T
|
|
|
NM_000314.8(PTEN):c.253+17T>G
|
rs2132239104
|
|
NM_000314.8(PTEN):c.253+18G>A
|
|
|
NM_000314.8(PTEN):c.253+20_253+24dup
|
|
|
NM_000314.8(PTEN):c.253+20_253+25del
|
|
|
NM_000314.8(PTEN):c.253+20_253+26del
|
rs1554897894
|
|
NM_000314.8(PTEN):c.253+4_253+7del
|
rs876659695
|
|
NM_000314.8(PTEN):c.253+7A>G
|
rs2132239067
|
|
NM_000314.8(PTEN):c.253+9G>A
|
|
|
NM_000314.8(PTEN):c.254-10T>C
|
rs1554898047
|
|
NM_000314.8(PTEN):c.254-11T>C
|
rs2132241916
|
|
NM_000314.8(PTEN):c.254-12T>G
|
rs2132241908
|
|
NM_000314.8(PTEN):c.254-15A>G
|
|
|
NM_000314.8(PTEN):c.254-20A>C
|
|
|
NM_000314.8(PTEN):c.254-3_254-2del
|
rs1064794169
|
|
NM_000314.8(PTEN):c.254-40A>G
|
rs767049245
|
|
NM_000314.8(PTEN):c.254-4A>G
|
|
|
NM_000314.8(PTEN):c.254-5C>T
|
rs1589645935
|
|
NM_000314.8(PTEN):c.254-6C>T
|
rs1057520525
|
|
NM_000314.8(PTEN):c.254-7A>G
|
rs2132241925
|
|
NM_000314.8(PTEN):c.254-7dup
|
rs1060503846
|
|
NM_000314.8(PTEN):c.264T>C (p.Tyr88=)
|
rs1554898056
|
|
NM_000314.8(PTEN):c.273A>G (p.Glu91=)
|
rs1589646019
|
|
NM_000314.8(PTEN):c.279T>C (p.His93=)
|
rs145695240
|
|
NM_000314.8(PTEN):c.282C>T (p.Asn94=)
|
rs1589646058
|
|
NM_000314.8(PTEN):c.291G>A (p.Gln97=)
|
rs1564829889
|
|
NM_000314.8(PTEN):c.303C>T (p.Ile101=)
|
rs1859968521
|
|
NM_000314.8(PTEN):c.309C>G (p.Pro103=)
|
rs2132242458
|
|
NM_000314.8(PTEN):c.30C>T (p.Ser10=)
|
|
|
NM_000314.8(PTEN):c.31A>C (p.Arg11=)
|
rs1858395868
|
|
NM_000314.8(PTEN):c.327C>T (p.Asp109=)
|
|
|
NM_000314.8(PTEN):c.330A>G (p.Gln110=)
|
rs786201929
|
|
NM_000314.8(PTEN):c.342A>G (p.Glu114=)
|
rs1589646244
|
|
NM_000314.8(PTEN):c.348C>T (p.Asp116=)
|
rs1114167651
|
|
NM_000314.8(PTEN):c.351T>C (p.Asn117=)
|
rs2132242870
|
|
NM_000314.8(PTEN):c.354T>C (p.His118=)
|
rs1564830090
|
|
NM_000314.8(PTEN):c.357T>G (p.Val119=)
|
rs1554898115
|
|
NM_000314.8(PTEN):c.360A>G (p.Ala120=)
|
rs759485888
|
|
NM_000314.8(PTEN):c.369C>T (p.His123=)
|
rs1085308045
|
|
NM_000314.8(PTEN):c.381A>C (p.Gly127=)
|
rs1357327961
|
|
NM_000314.8(PTEN):c.384G>A (p.Lys128=)
|
rs1114167645
|
|
NM_000314.8(PTEN):c.387A>G (p.Gly129=)
|
rs2132243217
|
|
NM_000314.8(PTEN):c.390A>T (p.Arg130=)
|
rs963598711
|
|
NM_000314.8(PTEN):c.396T>C (p.Gly132=)
|
rs1564830257
|
|
NM_000314.8(PTEN):c.39A>G (p.Lys13=)
|
rs2132145687
|
|
NM_000314.8(PTEN):c.408T>C (p.Cys136=)
|
rs869312776
|
|
NM_000314.8(PTEN):c.414T>C (p.Tyr138=)
|
|
|
NM_000314.8(PTEN):c.417A>G (p.Leu139=)
|
rs1057520407
|
|
NM_000314.8(PTEN):c.420A>G (p.Leu140=)
|
rs2132243531
|
|
NM_000314.8(PTEN):c.423T>C (p.His141=)
|
rs1459569607
|
|
NM_000314.8(PTEN):c.426G>A (p.Arg142=)
|
rs878853939
|
|
NM_000314.8(PTEN):c.426G>C (p.Arg142=)
|
rs878853939
|
|
NM_000314.8(PTEN):c.429C>T (p.Gly143=)
|
rs1589646539
|
|
NM_000314.8(PTEN):c.42G>A (p.Arg14=)
|
rs1064794513
|
|
NM_000314.8(PTEN):c.432A>G (p.Lys144=)
|
rs2132243670
|
|
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
|
|
|
NM_000314.8(PTEN):c.444A>C (p.Ala148=)
|
rs778663292
|
|
NM_000314.8(PTEN):c.444A>T (p.Ala148=)
|
rs778663292
|
|
NM_000314.8(PTEN):c.447A>G (p.Gln149=)
|
rs750401982
|
|
NM_000314.8(PTEN):c.450G>A (p.Glu150=)
|
rs757777398
|
|
NM_000314.8(PTEN):c.453C>T (p.Ala151=)
|
rs2132243850
|
|
NM_000314.8(PTEN):c.454C>T (p.Leu152=)
|
rs1064795450
|
|
NM_000314.8(PTEN):c.456A>C (p.Leu152=)
|
rs779626613
|
|
NM_000314.8(PTEN):c.45A>G (p.Arg15=)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.468G>A (p.Gly156=)
|
|
|
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
|
|
|
NM_000314.8(PTEN):c.483A>G (p.Arg161=)
|
rs2132244098
|
|
NM_000314.8(PTEN):c.492+14T>A
|
rs1057523132
|
|
NM_000314.8(PTEN):c.492+14T>C
|
rs1057523132
|
|
NM_000314.8(PTEN):c.492+7T>C
|
rs373077590
|
|
NM_000314.8(PTEN):c.492+7T>G
|
rs373077590
|
|
NM_000314.8(PTEN):c.492+8A>G
|
rs1859985473
|
|
NM_000314.8(PTEN):c.492+9T>A
|
rs2132244235
|
|
NM_000314.8(PTEN):c.492+9T>C
|
rs2132244235
|
|
NM_000314.8(PTEN):c.493-10T>G
|
|
|
NM_000314.8(PTEN):c.493-12dup
|
rs756623620
|
|
NM_000314.8(PTEN):c.493-13T>C
|
rs1554900488
|
|
NM_000314.8(PTEN):c.493-14T>C
|
rs1564837710
|
|
NM_000314.8(PTEN):c.493-15T>C
|
|
|
NM_000314.8(PTEN):c.493-18T>C
|
|
|
NM_000314.8(PTEN):c.493-19T>C
|
rs1554900486
|
|
NM_000314.8(PTEN):c.493-27G>T
|
rs1589659262
|
|
NM_000314.8(PTEN):c.493-4C>T
|
rs1057522555
|
|
NM_000314.8(PTEN):c.493-6C>T
|
rs1554900496
|
|
NM_000314.8(PTEN):c.493-7C>G
|
|
|
NM_000314.8(PTEN):c.493-7C>T
|
rs1554900492
|
|
NM_000314.8(PTEN):c.493-8T>C
|
|
|
NM_000314.8(PTEN):c.493-9G>A
|
rs1554900490
|
|
NM_000314.8(PTEN):c.493-9G>T
|
rs1554900490
|
|
NM_000314.8(PTEN):c.501T>C (p.Thr167=)
|
rs2132268947
|
|
NM_000314.8(PTEN):c.504T>A (p.Ile168=)
|
rs1589659338
|
|
NM_000314.8(PTEN):c.513G>A (p.Gln171=)
|
rs1554900546
|
|
NM_000314.8(PTEN):c.516G>A (p.Arg172=)
|
|
|
NM_000314.8(PTEN):c.519C>T (p.Arg173=)
|
|
|
NM_000314.8(PTEN):c.522T>C (p.Tyr174=)
|
rs786201867
|
|
NM_000314.8(PTEN):c.525G>C (p.Val175=)
|
rs1554900563
|
|
NM_000314.8(PTEN):c.525G>T (p.Val175=)
|
|
|
NM_000314.8(PTEN):c.528T>C (p.Tyr176=)
|
rs1057522285
|
|
NM_000314.8(PTEN):c.534T>C (p.Tyr178=)
|
rs104894184
|
|
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
|
|
|
NM_000314.8(PTEN):c.543G>C (p.Leu181=)
|
rs1589659495
|
|
NM_000314.8(PTEN):c.549G>A (p.Lys183=)
|
|
|
NM_000314.8(PTEN):c.54G>A (p.Glu18=)
|
rs1554890388
|
|
NM_000314.8(PTEN):c.555T>C (p.His185=)
|
rs757799618
|
|
NM_000314.8(PTEN):c.556C>T (p.Leu186=)
|
rs1589659546
|
|
NM_000314.8(PTEN):c.564T>C (p.Tyr188=)
|
rs606231170
|
|
NM_000314.8(PTEN):c.567A>G (p.Arg189=)
|
rs1589659570
|
|
NM_000314.8(PTEN):c.573G>A (p.Val191=)
|
rs374478092
|
|
NM_000314.8(PTEN):c.576A>G (p.Ala192=)
|
rs1554900619
|
|
NM_000314.8(PTEN):c.577C>T (p.Leu193=)
|
rs772631069
|
|
NM_000314.8(PTEN):c.579G>T (p.Leu193=)
|
rs568851024
|
|
NM_000314.8(PTEN):c.57T>C (p.Asp19=)
|
rs540063602
|
|
NM_000314.8(PTEN):c.585T>C (p.Phe195=)
|
rs1554900624
|
|
NM_000314.8(PTEN):c.588C>T (p.His196=)
|
rs1860423218
|
|
NM_000314.8(PTEN):c.60A>G (p.Gly20=)
|
|
|
NM_000314.8(PTEN):c.612A>C (p.Pro204=)
|
rs539074063
|
|
NM_000314.8(PTEN):c.618C>T (p.Phe206=)
|
rs786202773
|
|
NM_000314.8(PTEN):c.630T>A (p.Thr210=)
|
|
|
NM_000314.8(PTEN):c.634+11G>C
|
|
|
NM_000314.8(PTEN):c.634+13A>T
|
rs2132270168
|
|
NM_000314.8(PTEN):c.634+14A>T
|
rs762694325
|
|
NM_000314.8(PTEN):c.634+14del
|
rs2132270165
|
|
NM_000314.8(PTEN):c.634+18T>G
|
|
|
NM_000314.8(PTEN):c.634+19C>T
|
rs766397244
|
|
NM_000314.8(PTEN):c.634+20A>G
|
rs2132270192
|
|
NM_000314.8(PTEN):c.634+7G>C
|
rs1860427142
|
|
NM_000314.8(PTEN):c.634+9T>C
|
rs1589659798
|
|
NM_000314.8(PTEN):c.635-10A>G
|
rs1430432370
|
|
NM_000314.8(PTEN):c.635-11T>G
|
rs2132276315
|
|
NM_000314.8(PTEN):c.635-18A>G
|
rs1057520441
|
|
NM_000314.8(PTEN):c.635-20G>A
|
rs1317974446
|
|
NM_000314.8(PTEN):c.635-20G>T
|
|
|
NM_000314.8(PTEN):c.635-4G>A
|
|
|
NM_000314.8(PTEN):c.635-5T>C
|
|
|
NM_000314.8(PTEN):c.635-6A>G
|
rs1009588340
|
|
NM_000314.8(PTEN):c.635-7C>A
|
rs1554825148
|
|
NM_000314.8(PTEN):c.635-7C>T
|
rs1554825148
|
|
NM_000314.8(PTEN):c.636T>C (p.Asn212=)
|
rs2132276380
|
|
NM_000314.8(PTEN):c.63C>T (p.Phe21=)
|
rs1858399493
|
|
NM_000314.8(PTEN):c.642G>A (p.Gln214=)
|
rs1589663143
|
|
NM_000314.8(PTEN):c.651C>T (p.Val217=)
|
rs886038278
|
|
NM_000314.8(PTEN):c.658C>T (p.Leu220=)
|
|
|
NM_000314.8(PTEN):c.660A>C (p.Leu220=)
|
rs1352585442
|
|
NM_000314.8(PTEN):c.66C>T (p.Asp22=)
|
rs786201335
|
|
NM_000314.8(PTEN):c.672A>T (p.Ile224=)
|
|
|
NM_000314.8(PTEN):c.678C>G (p.Ser226=)
|
rs1589663262
|
|
NM_000314.8(PTEN):c.681C>T (p.Ser227=)
|
rs768662424
|
|
NM_000314.8(PTEN):c.684T>C (p.Asn228=)
|
rs2132276789
|
|
NM_000314.8(PTEN):c.687A>G (p.Ser229=)
|
rs1554825185
|
|
NM_000314.8(PTEN):c.693C>A (p.Pro231=)
|
|
|
NM_000314.8(PTEN):c.697C>A (p.Arg233=)
|
rs121909219
|
|
NM_000314.8(PTEN):c.699A>G (p.Arg233=)
|
rs1589663321
|
|
NM_000314.8(PTEN):c.6A>C (p.Thr2=)
|
rs1168115184
|
|
NM_000314.8(PTEN):c.6A>G (p.Thr2=)
|
|
|
NM_000314.8(PTEN):c.708C>T (p.Asp236=)
|
rs1183182915
|
|
NM_000314.8(PTEN):c.714C>T (p.Phe238=)
|
rs2132277083
|
|
NM_000314.8(PTEN):c.729C>T (p.Phe243=)
|
|
|
NM_000314.8(PTEN):c.741A>G (p.Leu247=)
|
rs1554825217
|
|
NM_000314.8(PTEN):c.744T>C (p.Pro248=)
|
rs1589663469
|
|
NM_000314.8(PTEN):c.747G>A (p.Val249=)
|
rs1060503840
|
|
NM_000314.8(PTEN):c.753T>A (p.Gly251=)
|
rs1554825232
|
|
NM_000314.8(PTEN):c.756T>C (p.Asp252=)
|
rs2132277479
|
|
NM_000314.8(PTEN):c.759C>A (p.Ile253=)
|
rs752250585
|
|
NM_000314.8(PTEN):c.759C>T (p.Ile253=)
|
rs752250585
|
|
NM_000314.8(PTEN):c.765A>G (p.Val255=)
|
rs1589663555
|
|
NM_000314.8(PTEN):c.774C>T (p.Phe258=)
|
rs1554825246
|
|
NM_000314.8(PTEN):c.777C>T (p.His259=)
|
rs2132277664
|
|
NM_000314.8(PTEN):c.780A>G (p.Lys260=)
|
rs876658720
|
|
NM_000314.8(PTEN):c.786C>T (p.Asn262=)
|
rs2132277734
|
|
NM_000314.8(PTEN):c.79+11C>T
|
rs1564801923
|
|
NM_000314.8(PTEN):c.79+14C>T
|
rs760610000
|
|
NM_000314.8(PTEN):c.79+15G>A
|
|
|
NM_000314.8(PTEN):c.79+15G>C
|
rs1269898602
|
|
NM_000314.8(PTEN):c.79+18T>A
|
|
|
NM_000314.8(PTEN):c.79+18T>C
|
|
|
NM_000314.8(PTEN):c.79+19G>C
|
|
|
NM_000314.8(PTEN):c.79+23_79+25del
|
rs1221062997
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
NM_000314.8(PTEN):c.79+9T>A
|
rs2132146167
|
|
NM_000314.8(PTEN):c.795A>C (p.Leu265=)
|
rs891648600
|
|
NM_000314.8(PTEN):c.80-10A>T
|
rs2132186986
|
|
NM_000314.8(PTEN):c.80-10_80-6del
|
rs1589617099
|
|
NM_000314.8(PTEN):c.80-15A>G
|
rs2132186952
|
|
NM_000314.8(PTEN):c.80-16T>G
|
rs2132186949
|
|
NM_000314.8(PTEN):c.80-17T>G
|
rs557842695
|
|
NM_000314.8(PTEN):c.80-23_85del
|
rs1589617079
|
|
NM_000314.8(PTEN):c.80-4T>C
|
rs2132187028
|
|
NM_000314.8(PTEN):c.80-5C>T
|
rs1060503842
|
|
NM_000314.8(PTEN):c.80-6A>G
|
rs1554893744
|
|
NM_000314.8(PTEN):c.80-8del
|
rs1060503844
|
|
NM_000314.8(PTEN):c.801+11T>C
|
|
|
NM_000314.8(PTEN):c.801+11_801+16del
|
|
|
NM_000314.8(PTEN):c.801+11dup
|
rs2132277897
|
|
NM_000314.8(PTEN):c.801+12_801+16del
|
rs2132277881
|
|
NM_000314.8(PTEN):c.801+13C>T
|
|
|
NM_000314.8(PTEN):c.801+15T>C
|
rs1057520830
|
|
NM_000314.8(PTEN):c.801+16T>C
|
rs2132277921
|
|
NM_000314.8(PTEN):c.801+20T>C
|
|
|
NM_000314.8(PTEN):c.801+20T>G
|
|
|
NM_000314.8(PTEN):c.801+7A>T
|
rs1211730867
|
|
NM_000314.8(PTEN):c.801+9T>C
|
rs1060503839
|
|
NM_000314.8(PTEN):c.802-10T>C
|
rs1270511778
|
|
NM_000314.8(PTEN):c.802-11_802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-2dup
|
rs1554825500
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3insG
|
|
|
NM_000314.8(PTEN):c.802-5_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-5_802-4insC
|
|
|
NM_000314.8(PTEN):c.802-6T>G
|
rs1057522284
|
|
NM_000314.8(PTEN):c.802-7T>G
|
rs2132281639
|
|
NM_000314.8(PTEN):c.802-7_802-6insC
|
rs2132281643
|
|
NM_000314.8(PTEN):c.802-8_802-7insC
|
|
|
NM_000314.8(PTEN):c.802-9T>G
|
rs1057520354
|
|
NM_000314.8(PTEN):c.816C>T (p.His272=)
|
rs876659761
|
|
NM_000314.8(PTEN):c.819T>C (p.Phe273=)
|
rs876658729
|
|
NM_000314.8(PTEN):c.828T>C (p.Asn276=)
|
rs1554825510
|
|
NM_000314.8(PTEN):c.831A>G (p.Thr277=)
|
rs376886779
|
|
NM_000314.8(PTEN):c.834C>T (p.Phe278=)
|
rs867171992
|
|
NM_000314.8(PTEN):c.837C>T (p.Phe279=)
|
rs2132281941
|
|
NM_000314.8(PTEN):c.838A>G (p.Ile280Val)
|
rs1474354667
|
|
NM_000314.8(PTEN):c.843A>G (p.Pro281=)
|
rs1554825518
|
|
NM_000314.8(PTEN):c.852G>A (p.Glu284=)
|
rs1860620187
|
|
NM_000314.8(PTEN):c.858C>T (p.Thr286=)
|
rs876660443
|
|
NM_000314.8(PTEN):c.861A>G (p.Ser287=)
|
rs1564568288
|
|
NM_000314.8(PTEN):c.867A>G (p.Lys289=)
|
rs2132282206
|
|
NM_000314.8(PTEN):c.870A>C (p.Val290=)
|
rs529155918
|
|
NM_000314.8(PTEN):c.870A>G (p.Val290=)
|
rs529155918
|
|
NM_000314.8(PTEN):c.876T>C (p.Asn292=)
|
rs864622098
|
|
NM_000314.8(PTEN):c.879A>C (p.Gly293=)
|
rs1060503843
|
|
NM_000314.8(PTEN):c.879A>G (p.Gly293=)
|
rs1060503843
|
|
NM_000314.8(PTEN):c.87T>C (p.Tyr29=)
|
rs1554893756
|
|
NM_000314.8(PTEN):c.882T>C (p.Ser294=)
|
rs143335584
|
|
NM_000314.8(PTEN):c.883C>T (p.Leu295=)
|
rs756152824
|
|
NM_000314.8(PTEN):c.885A>C (p.Leu295=)
|
rs587780713
|
|
NM_000314.8(PTEN):c.885A>T (p.Leu295=)
|
|
|
NM_000314.8(PTEN):c.894A>G (p.Gln298=)
|
|
|
NM_000314.8(PTEN):c.900C>A (p.Ile300=)
|
rs550122918
|
|
NM_000314.8(PTEN):c.903T>C (p.Asp301=)
|
rs2132282573
|
|
NM_000314.8(PTEN):c.909T>A (p.Ile303=)
|
rs878853945
|
|
NM_000314.8(PTEN):c.912C>T (p.Cys304=)
|
rs2132282639
|
|
NM_000314.8(PTEN):c.921G>A (p.Glu307=)
|
rs1860626419
|
|
NM_000314.8(PTEN):c.927A>G (p.Ala309=)
|
|
|
NM_000314.8(PTEN):c.933T>C (p.Asn311=)
|
rs2132282863
|
|
NM_000314.8(PTEN):c.939G>A (p.Lys313=)
|
rs562164491
|
|
NM_000314.8(PTEN):c.942A>G (p.Glu314=)
|
rs1589666037
|
|
NM_000314.8(PTEN):c.946C>T (p.Leu316=)
|
rs1554825577
|
|
NM_000314.8(PTEN):c.957T>C (p.Thr319=)
|
rs2132283142
|
|
NM_000314.8(PTEN):c.966A>G (p.Lys322=)
|
rs786201392
|
|
NM_000314.8(PTEN):c.96T>C (p.Ile32=)
|
|
|
NM_000314.8(PTEN):c.975T>C (p.Leu325=)
|
|
|
NM_000314.8(PTEN):c.984A>C (p.Ala328=)
|
|
|
NM_000314.8(PTEN):c.984A>G (p.Ala328=)
|
rs2132283374
|
|
NM_000314.8(PTEN):c.993C>T (p.Asp331=)
|
rs2132283468
|
|
NM_000314.8(PTEN):c.999C>T (p.Ala333=)
|
rs2132283524
|
|
NM_000314.8(PTEN):c.9C>T (p.Ala3=)
|
rs1554890328
|
|
NM_001126049.2(KLLN):c.-1007C>G
|
rs587780001
|
|
NM_001126049.2(KLLN):c.-1007C>T
|
rs587780001
|
|
NM_001126049.2(KLLN):c.-794_-783del
|
rs587781340
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
NM_001126049.2(KLLN):c.-955G>T
|
rs587781128
|
|
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=)
|
rs1489572550
|
|
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=)
|
rs1060504819
|
|
NM_001382430.1(AKT1):c.1039C>T (p.Leu347=)
|
|
|
NM_001382430.1(AKT1):c.1083C>T (p.Ile361=)
|
rs1402373492
|
|
NM_001382430.1(AKT1):c.1086C>T (p.Leu362=)
|
rs2140901197
|
|
NM_001382430.1(AKT1):c.1107G>C (p.Pro369=)
|
rs150399268
|
|
NM_001382430.1(AKT1):c.1113G>A (p.Thr371=)
|
rs747408700
|
|
NM_001382430.1(AKT1):c.1113G>C (p.Thr371=)
|
rs747408700
|
|
NM_001382430.1(AKT1):c.1119T>A (p.Gly373=)
|
rs2140900738
|
|
NM_001382430.1(AKT1):c.1146G>A (p.Gly382=)
|
rs755174756
|
|
NM_001382430.1(AKT1):c.1149G>A (p.Leu383=)
|
rs767207905
|
|
NM_001382430.1(AKT1):c.1161C>T (p.Asp387=)
|
rs1309319250
|
|
NM_001382430.1(AKT1):c.1172+7G>A
|
rs763680129
|
|
NM_001382430.1(AKT1):c.1172+9C>A
|
rs529348439
|
|
NM_001382430.1(AKT1):c.1173-18C>T
|
|
|
NM_001382430.1(AKT1):c.1173-8G>A
|
|
|
NM_001382430.1(AKT1):c.1173-8G>C
|
|
|
NM_001382430.1(AKT1):c.1176T>C (p.Leu392=)
|
rs1049525123
|
|
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=)
|
rs911689817
|
|
NM_001382430.1(AKT1):c.1248G>A (p.Val416=)
|
rs1595241057
|
|
NM_001382430.1(AKT1):c.1260+19T>C
|
|
|
NM_001382430.1(AKT1):c.1260+7C>G
|
|
|
NM_001382430.1(AKT1):c.1261-8C>T
|
|
|
NM_001382430.1(AKT1):c.126G>T (p.Pro42=)
|
|
|
NM_001382430.1(AKT1):c.1278G>A (p.Lys426=)
|
rs1595239120
|
|
NM_001382430.1(AKT1):c.1281C>T (p.Pro427=)
|
|
|
NM_001382430.1(AKT1):c.1284G>A (p.Gln428=)
|
|
|
NM_001382430.1(AKT1):c.129G>A (p.Gln43=)
|
rs2140949061
|
|
NM_001382430.1(AKT1):c.1305C>T (p.Thr435=)
|
|
|
NM_001382430.1(AKT1):c.1311T>C (p.Tyr437=)
|
|
|
NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)
|
|
|
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=)
|
rs1060504820
|
|
NM_001382430.1(AKT1):c.135G>A (p.Val45=)
|
|
|
NM_001382430.1(AKT1):c.1364-10A>C
|
|
|
NM_001382430.1(AKT1):c.1364-11T>C
|
|
|
NM_001382430.1(AKT1):c.1364-9C>T
|
|
|
NM_001382430.1(AKT1):c.1383G>A (p.Val461=)
|
rs763831402
|
|
NM_001382430.1(AKT1):c.1386C>T (p.Asp462=)
|
|
|
NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)
|
|
|
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=)
|
rs1221539515
|
|
NM_001382430.1(AKT1):c.141A>G (p.Gln47=)
|
|
|
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)
|
|
|
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=)
|
rs555187157
|
|
NM_001382430.1(AKT1):c.153C>T (p.Pro51=)
|
|
|
NM_001382430.1(AKT1):c.165C>T (p.Phe55=)
|
rs1892948975
|
|
NM_001382430.1(AKT1):c.171G>A (p.Val57=)
|
|
|
NM_001382430.1(AKT1):c.175+16G>C
|
rs2140948331
|
|
NM_001382430.1(AKT1):c.176-16C>T
|
|
|
NM_001382430.1(AKT1):c.176-19A>G
|
|
|
NM_001382430.1(AKT1):c.176-5C>T
|
rs377076374
|
|
NM_001382430.1(AKT1):c.176-7C>T
|
|
|
NM_001382430.1(AKT1):c.186G>A (p.Leu62=)
|
|
|
NM_001382430.1(AKT1):c.195G>C (p.Thr65=)
|
|
|
NM_001382430.1(AKT1):c.222C>T (p.Ile74=)
|
rs2140930465
|
|
NM_001382430.1(AKT1):c.27G>A (p.Glu9=)
|
|
|
NM_001382430.1(AKT1):c.285G>A (p.Glu95=)
|
|
|
NM_001382430.1(AKT1):c.287+12G>A
|
|
|
NM_001382430.1(AKT1):c.287+14G>A
|
|
|
NM_001382430.1(AKT1):c.288-13T>A
|
|
|
NM_001382430.1(AKT1):c.288-20C>T
|
|
|
NM_001382430.1(AKT1):c.288-4G>T
|
rs778501455
|
|
NM_001382430.1(AKT1):c.288-7_288-5del
|
rs1206923979
|
|
NM_001382430.1(AKT1):c.309C>T (p.Ile103=)
|
rs2140922911
|
|
NM_001382430.1(AKT1):c.318G>C (p.Val106=)
|
rs761930839
|
|
NM_001382430.1(AKT1):c.333G>A (p.Lys111=)
|
|
|
NM_001382430.1(AKT1):c.348G>A (p.Glu116=)
|
rs1595245735
|
|
NM_001382430.1(AKT1):c.351G>A (p.Glu117=)
|
rs1268659696
|
|
NM_001382430.1(AKT1):c.357C>T (p.Asp119=)
|
rs934041027
|
|
NM_001382430.1(AKT1):c.399G>A (p.Glu133=)
|
rs1892659025
|
|
NM_001382430.1(AKT1):c.412C>T (p.Leu138=)
|
rs2140922009
|
|
NM_001382430.1(AKT1):c.435+10G>A
|
|
|
NM_001382430.1(AKT1):c.435+10G>T
|
rs768098229
|
|
NM_001382430.1(AKT1):c.435+18T>C
|
|
|
NM_001382430.1(AKT1):c.436-4A>G
|
rs1060504821
|
|
NM_001382430.1(AKT1):c.43C>A (p.Arg15=)
|
rs2141006801
|
|
NM_001382430.1(AKT1):c.46+10C>G
|
rs372014221
|
|
NM_001382430.1(AKT1):c.46+11G>A
|
rs1461937719
|
|
NM_001382430.1(AKT1):c.46+16C>T
|
rs1893684068
|
|
NM_001382430.1(AKT1):c.46+20G>A
|
rs1893683680
|
|
NM_001382430.1(AKT1):c.46+20G>T
|
|
|
NM_001382430.1(AKT1):c.46+9C>G
|
|
|
NM_001382430.1(AKT1):c.46+9C>T
|
rs376917061
|
|
NM_001382430.1(AKT1):c.468G>A (p.Leu156=)
|
rs2140917965
|
|
NM_001382430.1(AKT1):c.47-4G>A
|
rs772346934
|
|
NM_001382430.1(AKT1):c.47-4G>C
|
rs772346934
|
|
NM_001382430.1(AKT1):c.47-4G>T
|
rs772346934
|
|
NM_001382430.1(AKT1):c.47-8G>A
|
rs770565457
|
|
NM_001382430.1(AKT1):c.47-8G>T
|
rs770565457
|
|
NM_001382430.1(AKT1):c.48G>C (p.Gly16=)
|
|
|
NM_001382430.1(AKT1):c.552A>G (p.Glu184=)
|
rs1422104904
|
|
NM_001382430.1(AKT1):c.561G>A (p.Val187=)
|
rs757639898
|
|
NM_001382430.1(AKT1):c.561G>T (p.Val187=)
|
|
|
NM_001382430.1(AKT1):c.567+13C>T
|
|
|
NM_001382430.1(AKT1):c.567+19G>T
|
rs2140916086
|
|
NM_001382430.1(AKT1):c.567+20G>T
|
|
|
NM_001382430.1(AKT1):c.568-16C>G
|
|
|
NM_001382430.1(AKT1):c.568-16C>T
|
|
|
NM_001382430.1(AKT1):c.568-20C>T
|
|
|
NM_001382430.1(AKT1):c.576G>A (p.Val192=)
|
|
|
NM_001382430.1(AKT1):c.588C>T (p.Leu196=)
|
|
|
NM_001382430.1(AKT1):c.612C>T (p.Asn204=)
|
rs1044733473
|
|
NM_001382430.1(AKT1):c.633+12C>A
|
|
|
NM_001382430.1(AKT1):c.633+12C>T
|
|
|
NM_001382430.1(AKT1):c.633+16G>C
|
|
|
NM_001382430.1(AKT1):c.633+19G>C
|
|
|
NM_001382430.1(AKT1):c.633+7G>T
|
rs2140915221
|
|
NM_001382430.1(AKT1):c.633+8_633+9dup
|
|
|
NM_001382430.1(AKT1):c.633+9dup
|
rs774067656
|
|
NM_001382430.1(AKT1):c.634-14C>T
|
|
|
NM_001382430.1(AKT1):c.634-15T>C
|
|
|
NM_001382430.1(AKT1):c.669C>G (p.Leu223=)
|
rs376531915
|
|
NM_001382430.1(AKT1):c.703-11G>A
|
|
|
NM_001382430.1(AKT1):c.705G>A (p.Leu235=)
|
rs769090254
|
|
NM_001382430.1(AKT1):c.711C>T (p.Phe237=)
|
|
|
NM_001382430.1(AKT1):c.747G>T (p.Arg249=)
|
rs2140907069
|
|
NM_001382430.1(AKT1):c.750C>G (p.Ala250=)
|
rs1892522821
|
|
NM_001382430.1(AKT1):c.756C>T (p.Phe252=)
|
|
|
NM_001382430.1(AKT1):c.765T>A (p.Ala255=)
|
|
|
NM_001382430.1(AKT1):c.765T>C (p.Ala255=)
|
|
|
NM_001382430.1(AKT1):c.81C>T (p.Phe27=)
|
rs749781543
|
|
NM_001382430.1(AKT1):c.822C>T (p.Asp274=)
|
rs1555383496
|
|
NM_001382430.1(AKT1):c.828+11G>A
|
rs370808079
|
|
NM_001382430.1(AKT1):c.828+13G>A
|
|
|
NM_001382430.1(AKT1):c.828+16_828+18delinsTTT
|
rs2140906220
|
|
NM_001382430.1(AKT1):c.828+7del
|
rs1555383494
|
|
NM_001382430.1(AKT1):c.828+9G>A
|
|
|
NM_001382430.1(AKT1):c.829-4C>G
|
|
|
NM_001382430.1(AKT1):c.829-9T>C
|
rs1892508128
|
|
NM_001382430.1(AKT1):c.844C>T (p.Leu282=)
|
|
|
NM_001382430.1(AKT1):c.87C>G (p.Leu29=)
|
rs1161618144
|
|
NM_001382430.1(AKT1):c.927T>C (p.Phe309=)
|
rs1566816545
|
|
NM_001382430.1(AKT1):c.930C>T (p.Cys310=)
|
|
|
NM_001382430.1(AKT1):c.939T>C (p.Pro313=)
|
|
|
NM_001382430.1(AKT1):c.942G>A (p.Glu314=)
|
rs2140905122
|
|
NM_001382430.1(AKT1):c.957+13C>T
|
|
|
NM_001382430.1(AKT1):c.957+14C>T
|
|
|
NM_001382430.1(AKT1):c.957+15T>C
|
rs1473754212
|
|
NM_001382430.1(AKT1):c.958-7C>G
|
rs369048965
|
|
NM_001382430.1(AKT1):c.958-8C>T
|
|
|
NM_001382430.1(AKT1):c.960G>A (p.Val320=)
|
rs1595242097
|
|
NM_001382430.1(AKT1):c.99C>T (p.Gly33=)
|
|
|
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
|
|
|
NM_003002.4(SDHD):c.114A>G (p.Arg38=)
|
rs1555186794
|
|
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
|
|
|
NM_003002.4(SDHD):c.126A>G (p.Glu42=)
|
rs2135267333
|
|
NM_003002.4(SDHD):c.12C>T (p.Leu4=)
|
rs2135264636
|
|
NM_003002.4(SDHD):c.138G>A (p.Val46=)
|
rs2135267384
|
|
NM_003002.4(SDHD):c.150C>T (p.His50=)
|
|
|
NM_003002.4(SDHD):c.165C>T (p.His55=)
|
rs1592779061
|
|
NM_003002.4(SDHD):c.169+11T>C
|
|
|
NM_003002.4(SDHD):c.169+16C>T
|
|
|
NM_003002.4(SDHD):c.169+20G>T
|
|
|
NM_003002.4(SDHD):c.169+7TC[2]
|
|
|
NM_003002.4(SDHD):c.169+8C>T
|
rs1592779083
|
|
NM_003002.4(SDHD):c.170-10C>A
|
|
|
NM_003002.4(SDHD):c.170-10C>T
|
rs952278127
|
|
NM_003002.4(SDHD):c.170-11C>T
|
rs2135269102
|
|
NM_003002.4(SDHD):c.170-13G>A
|
rs1447202823
|
|
NM_003002.4(SDHD):c.170-14G>C
|
rs919536825
|
|
NM_003002.4(SDHD):c.170-18del
|
rs766754598
|
|
NM_003002.4(SDHD):c.170-20G>A
|
rs2135269091
|
|
NM_003002.4(SDHD):c.170-20G>C
|
|
|
NM_003002.4(SDHD):c.170-20G>T
|
rs2135269091
|
|
NM_003002.4(SDHD):c.170-8T>A
|
rs2135269114
|
|
NM_003002.4(SDHD):c.170-9T>C
|
rs1592780269
|
|
NM_003002.4(SDHD):c.171T>C (p.Ser57=)
|
rs2135269133
|
|
NM_003002.4(SDHD):c.177C>T (p.Ser59=)
|
rs764869982
|
|
NM_003002.4(SDHD):c.183T>C (p.Ala61=)
|
rs2135269188
|
|
NM_003002.4(SDHD):c.186A>T (p.Ala62=)
|
rs11547899
|
|
NM_003002.4(SDHD):c.189T>C (p.Ser63=)
|
|
|
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
|
|
|
NM_003002.4(SDHD):c.192C>G (p.Leu64=)
|
rs1592780337
|
|
NM_003002.4(SDHD):c.195C>T (p.His65=)
|
rs11547893
|
|
NM_003002.4(SDHD):c.19C>T (p.Leu7=)
|
rs1337542194
|
|
NM_003002.4(SDHD):c.201T>C (p.Thr67=)
|
rs2135269268
|
|
NM_003002.4(SDHD):c.207G>A (p.Glu69=)
|
rs1592780392
|
|
NM_003002.4(SDHD):c.213T>G (p.Val71=)
|
|
|
NM_003002.4(SDHD):c.216C>G (p.Val72=)
|
rs1592780438
|
|
NM_003002.4(SDHD):c.216C>T (p.Val72=)
|
|
|
NM_003002.4(SDHD):c.219T>C (p.Ser73=)
|
rs2135269373
|
|
NM_003002.4(SDHD):c.21G>T (p.Leu7=)
|
|
|
NM_003002.4(SDHD):c.223T>C (p.Leu75=)
|
rs2135269384
|
|
NM_003002.4(SDHD):c.246T>A (p.Ala82=)
|
|
|
NM_003002.4(SDHD):c.246T>C (p.Ala82=)
|
rs2135269508
|
|
NM_003002.4(SDHD):c.246T>G (p.Ala82=)
|
|
|
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
|
|
|
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)
|
rs200255724
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
NM_003002.4(SDHD):c.270G>C (p.Ala90=)
|
rs766656463
|
|
NM_003002.4(SDHD):c.270G>T (p.Ala90=)
|
rs766656463
|
|
NM_003002.4(SDHD):c.276C>T (p.Asp92=)
|
rs2135269643
|
|
NM_003002.4(SDHD):c.27C>A (p.Ala9=)
|
rs1555186670
|
|
NM_003002.4(SDHD):c.27C>G (p.Ala9=)
|
|
|
NM_003002.4(SDHD):c.27C>T (p.Ala9=)
|
rs1555186670
|
|
NM_003002.4(SDHD):c.282C>G (p.Ser94=)
|
rs781182616
|
|
NM_003002.4(SDHD):c.283C>T (p.Leu95=)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.288T>C (p.Ala96=)
|
rs2135269735
|
|
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
|
|
|
NM_003002.4(SDHD):c.291A>C (p.Ala97=)
|
rs1592780682
|
|
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
|
|
|
NM_003002.4(SDHD):c.314+13A>G
|
|
|
NM_003002.4(SDHD):c.314+15T>A
|
|
|
NM_003002.4(SDHD):c.314+17C>T
|
|
|
NM_003002.4(SDHD):c.314+18A>C
|
|
|
NM_003002.4(SDHD):c.314+19A>G
|
|
|
NM_003002.4(SDHD):c.314+20del
|
rs755475561
|
|
NM_003002.4(SDHD):c.314+7A>T
|
rs2135269897
|
|
NM_003002.4(SDHD):c.314+8T>C
|
rs199645781
|
|
NM_003002.4(SDHD):c.314+8T>G
|
rs199645781
|
|
NM_003002.4(SDHD):c.315-12C>A
|
|
|
NM_003002.4(SDHD):c.315-12dup
|
|
|
NM_003002.4(SDHD):c.315-16T>G
|
|
|
NM_003002.4(SDHD):c.315-18T>A
|
rs1260988180
|
|
NM_003002.4(SDHD):c.315-4T>G
|
rs944726340
|
|
NM_003002.4(SDHD):c.315-8T>C
|
rs1592786101
|
|
NM_003002.4(SDHD):c.315-9T>G
|
rs911853469
|
|
NM_003002.4(SDHD):c.318C>A (p.Gly106=)
|
rs878854592
|
|
NM_003002.4(SDHD):c.318C>T (p.Gly106=)
|
rs878854592
|
|
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
|
|
|
NM_003002.4(SDHD):c.348T>C (p.His116=)
|
rs2135277453
|
|
NM_003002.4(SDHD):c.351G>T (p.Gly117=)
|
rs1566702512
|
|
NM_003002.4(SDHD):c.354T>C (p.Asp118=)
|
rs911663426
|
|
NM_003002.4(SDHD):c.357C>T (p.Ala119=)
|
rs2135277494
|
|
NM_003002.4(SDHD):c.363G>A (p.Gln121=)
|
rs2135277509
|
|
NM_003002.4(SDHD):c.369T>C (p.Ala123=)
|
rs747779190
|
|
NM_003002.4(SDHD):c.36T>G (p.Gly12=)
|
rs1592777328
|
|
NM_003002.4(SDHD):c.372C>G (p.Ala124=)
|
rs2135277535
|
|
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
|
|
|
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
|
|
|
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
|
|
|
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
|
|
|
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
|
|
|
NM_003002.4(SDHD):c.396A>C (p.Ser132=)
|
rs2135277619
|
|
NM_003002.4(SDHD):c.39C>T (p.Ala13=)
|
rs1566690237
|
|
NM_003002.4(SDHD):c.405C>T (p.Thr135=)
|
rs1555187606
|
|
NM_003002.4(SDHD):c.40C>T (p.Leu14=)
|
rs1060503772
|
|
NM_003002.4(SDHD):c.411T>C (p.Ala137=)
|
rs1298909305
|
|
NM_003002.4(SDHD):c.414G>A (p.Gly138=)
|
rs1174448545
|
|
NM_003002.4(SDHD):c.429C>T (p.Asn143=)
|
rs1036199125
|
|
NM_003002.4(SDHD):c.42A>G (p.Leu14=)
|
rs878854593
|
|
NM_003002.4(SDHD):c.42A>T (p.Leu14=)
|
|
|
NM_003002.4(SDHD):c.450C>T (p.Cys150=)
|
rs201337439
|
|
NM_003002.4(SDHD):c.45A>T (p.Gly15=)
|
rs2135264801
|
|
NM_003002.4(SDHD):c.466C>T (p.Leu156=)
|
rs2135277839
|
|
NM_003002.4(SDHD):c.468G>A (p.Leu156=)
|
rs2135277845
|
|
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
|
|
|
NM_003002.4(SDHD):c.479G>A (p.Ter160=)
|
rs201372601
|
|
NM_003002.4(SDHD):c.48C>T (p.Gly16=)
|
rs1555186688
|
|
NM_003002.4(SDHD):c.52+10C>G
|
rs2135264901
|
|
NM_003002.4(SDHD):c.52+11T>A
|
|
|
NM_003002.4(SDHD):c.52+12T>C
|
rs1865622422
|
|
NM_003002.4(SDHD):c.52+13C>T
|
|
|
NM_003002.4(SDHD):c.52+15C>T
|
rs1486681280
|
|
NM_003002.4(SDHD):c.52+17C>G
|
|
|
NM_003002.4(SDHD):c.52+17C>T
|
rs2135264969
|
|
NM_003002.4(SDHD):c.52+18C>T
|
|
|
NM_003002.4(SDHD):c.52+20T>C
|
|
|
NM_003002.4(SDHD):c.52+6G>A
|
rs1416678757
|
|
NM_003002.4(SDHD):c.52+7G>C
|
rs2135264872
|
|
NM_003002.4(SDHD):c.52+8dup
|
rs2135264855
|
|
NM_003002.4(SDHD):c.53-12C>G
|
rs2135266862
|
|
NM_003002.4(SDHD):c.53-12C>T
|
rs2135266862
|
|
NM_003002.4(SDHD):c.53-13A>G
|
|
|
NM_003002.4(SDHD):c.53-14G>A
|
|
|
NM_003002.4(SDHD):c.53-15T>C
|
|
|
NM_003002.4(SDHD):c.53-17A>G
|
rs1166658454
|
|
NM_003002.4(SDHD):c.53-18T>C
|
|
|
NM_003002.4(SDHD):c.53-20C>T
|
|
|
NM_003002.4(SDHD):c.53-5C>T
|
rs913670110
|
|
NM_003002.4(SDHD):c.53-6C>T
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-7T>C
|
|
|
NM_003002.4(SDHD):c.53-8_53-7del
|
rs765322445
|
|
NM_003002.4(SDHD):c.57G>A (p.Leu19=)
|
rs560625389
|
|
NM_003002.4(SDHD):c.58T>C (p.Leu20=)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.60G>A (p.Leu20=)
|
rs2135266996
|
|
NM_003002.4(SDHD):c.69T>A (p.Thr23=)
|
rs1350100098
|
|
NM_003002.4(SDHD):c.69T>G (p.Thr23=)
|
rs1350100098
|
|
NM_003002.4(SDHD):c.6G>A (p.Ala2=)
|
rs1592777160
|
|
NM_003002.4(SDHD):c.72A>C (p.Pro24=)
|
rs1413100881
|
|
NM_003002.4(SDHD):c.75G>A (p.Val25=)
|
|
|
NM_003002.4(SDHD):c.78C>T (p.Val26=)
|
|
|
NM_003002.4(SDHD):c.84T>C (p.Pro28=)
|
rs2135267119
|
|
NM_003002.4(SDHD):c.90T>C (p.His30=)
|
|
|
NM_003002.4(SDHD):c.93C>T (p.Ile31=)
|
rs766096986
|
|
NM_003002.4(SDHD):c.99A>G (p.Ala33=)
|
rs2135267182
|
|
NM_003002.4(SDHD):c.9T>A (p.Val3=)
|
rs1555186657
|
|
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.1071A>G (p.Arg357=)
|
rs2108394279
|
|
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.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+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.1203A>C (p.Arg401=)
|
|
|
NM_006218.4(PIK3CA):c.1203A>G (p.Arg401=)
|
rs1576938104
|
|
NM_006218.4(PIK3CA):c.1248A>G (p.Lys416=)
|
|
|
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.1269A>T (p.Ala423=)
|
rs761246978
|
|
NM_006218.4(PIK3CA):c.1299A>G (p.Thr433=)
|
rs1576938403
|
|
NM_006218.4(PIK3CA):c.1308A>G (p.Leu436=)
|
rs2108400390
|
|
NM_006218.4(PIK3CA):c.1341A>C (p.Pro447=)
|
rs1332986630
|
|
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=)
|
rs1553822208
|
|
NM_006218.4(PIK3CA):c.1374T>A (p.Pro458=)
|
rs1576938493
|
|
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.1405-14C>T
|
|
|
NM_006218.4(PIK3CA):c.1405-8T>C
|
rs1576938589
|
|
NM_006218.4(PIK3CA):c.1428G>A (p.Glu476=)
|
rs1576938610
|
|
NM_006218.4(PIK3CA):c.147A>G (p.Leu49=)
|
rs1207754023
|
|
NM_006218.4(PIK3CA):c.1485T>C (p.His495=)
|
rs1480813252
|
|
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.1540-20G>A
|
|
|
NM_006218.4(PIK3CA):c.1540-6T>C
|
rs200006381
|
|
NM_006218.4(PIK3CA):c.1567T>C (p.Leu523=)
|
|
|
NM_006218.4(PIK3CA):c.15A>G (p.Pro5=)
|
rs2108384979
|
|
NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=)
|
rs2108408180
|
|
NM_006218.4(PIK3CA):c.1629C>T (p.Ile543=)
|
|
|
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.1644A>G (p.Lys548=)
|
rs2108408420
|
|
NM_006218.4(PIK3CA):c.1664+18G>A
|
rs104886001
|
|
NM_006218.4(PIK3CA):c.1680T>C (p.Thr560=)
|
|
|
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.1752T>C (p.Tyr584=)
|
|
|
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.186T>G (p.Leu62=)
|
|
|
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.1959A>G (p.Leu653=)
|
rs1553823720
|
|
NM_006218.4(PIK3CA):c.1960C>T (p.Leu654=)
|
|
|
NM_006218.4(PIK3CA):c.198T>C (p.Ser66=)
|
rs752074639
|
|
NM_006218.4(PIK3CA):c.2015+18C>T
|
|
|
NM_006218.4(PIK3CA):c.2015+20del
|
|
|
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.2109T>C (p.Asn703=)
|
rs1576943768
|
|
NM_006218.4(PIK3CA):c.213A>G (p.Val71=)
|
rs879254355
|
|
NM_006218.4(PIK3CA):c.2148T>G (p.Thr716=)
|
|
|
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.2181A>C (p.Thr727=)
|
|
|
NM_006218.4(PIK3CA):c.2187+11_2187+12del
|
|
|
NM_006218.4(PIK3CA):c.2188-15T>C
|
|
|
NM_006218.4(PIK3CA):c.2188-19A>G
|
|
|
NM_006218.4(PIK3CA):c.2188-8T>C
|
|
|
NM_006218.4(PIK3CA):c.2241T>C (p.Ala747=)
|
|
|
NM_006218.4(PIK3CA):c.2242C>T (p.Leu748=)
|
rs2108416809
|
|
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.2274T>C (p.Ala758=)
|
rs757160501
|
|
NM_006218.4(PIK3CA):c.2277T>C (p.His759=)
|
rs1056341727
|
|
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.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.2421A>G (p.Leu807=)
|
rs2108419363
|
|
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.2466T>C (p.Asn822=)
|
|
|
NM_006218.4(PIK3CA):c.2475A>G (p.Gln825=)
|
rs1725073392
|
|
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.252T>C (p.Asp84=)
|
rs1060503814
|
|
NM_006218.4(PIK3CA):c.2550G>C (p.Val850=)
|
|
|
NM_006218.4(PIK3CA):c.2568T>A (p.Thr856=)
|
rs1440145288
|
|
NM_006218.4(PIK3CA):c.2604T>A (p.Gly868=)
|
|
|
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.2667-11A>G
|
|
|
NM_006218.4(PIK3CA):c.2667-20G>A
|
|
|
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.2785-5G>T
|
rs2108424731
|
|
NM_006218.4(PIK3CA):c.2787G>C (p.Leu929=)
|
|
|
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=)
|
rs1282232507
|
|
NM_006218.4(PIK3CA):c.2910A>G (p.Glu970=)
|
|
|
NM_006218.4(PIK3CA):c.2913C>T (p.Cys971=)
|
rs2108425304
|
|
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.2958G>A (p.Lys986=)
|
rs2108429006
|
|
NM_006218.4(PIK3CA):c.2964T>C (p.Tyr988=)
|
rs1725278470
|
|
NM_006218.4(PIK3CA):c.2991C>T (p.Leu997=)
|
rs1381822974
|
|
NM_006218.4(PIK3CA):c.2997A>C (p.Ile999=)
|
|
|
NM_006218.4(PIK3CA):c.3009A>G (p.Ser1003=)
|
rs2108429258
|
|
NM_006218.4(PIK3CA):c.3024T>C (p.Ser1008=)
|
|
|
NM_006218.4(PIK3CA):c.3060A>G (p.Ala1020=)
|
rs1725280697
|
|
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.3138A>C (p.Ala1046=)
|
rs1215652300
|
|
NM_006218.4(PIK3CA):c.3144T>C (p.His1048=)
|
rs1725283801
|
|
NM_006218.4(PIK3CA):c.315A>G (p.Val105=)
|
|
|
NM_006218.4(PIK3CA):c.3180C>T (p.His1060=)
|
|
|
NM_006218.4(PIK3CA):c.3198A>T (p.Ala1066=)
|
|
|
NM_006218.4(PIK3CA):c.321C>T (p.Asn107=)
|
rs1576932042
|
|
NM_006218.4(PIK3CA):c.352+10A>C
|
rs2108386513
|
|
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.402A>T (p.Pro134=)
|
rs1051402
|
|
NM_006218.4(PIK3CA):c.417C>T (p.Phe139=)
|
rs2108387358
|
|
NM_006218.4(PIK3CA):c.42C>T (p.His14=)
|
|
|
NM_006218.4(PIK3CA):c.480T>C (p.His160=)
|
rs2108387648
|
|
NM_006218.4(PIK3CA):c.489A>G (p.Ala163=)
|
rs201815341
|
|
NM_006218.4(PIK3CA):c.522A>T (p.Ser174=)
|
rs1424220720
|
|
NM_006218.4(PIK3CA):c.54A>C (p.Pro18=)
|
|
|
NM_006218.4(PIK3CA):c.562+16A>G
|
|
|
NM_006218.4(PIK3CA):c.563-16T>C
|
rs2108389237
|
|
NM_006218.4(PIK3CA):c.579G>A (p.Val193=)
|
rs2108389337
|
|
NM_006218.4(PIK3CA):c.594T>C (p.Val198=)
|
rs2108389396
|
|
NM_006218.4(PIK3CA):c.609C>T (p.Asp203=)
|
|
|
NM_006218.4(PIK3CA):c.618G>A (p.Lys206=)
|
|
|
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.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.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.813+15_813+16delinsAT
|
rs2108390298
|
|
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=)
|
rs1553821070
|
|
NM_006218.4(PIK3CA):c.853T>C (p.Leu285=)
|
|
|
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.939A>G (p.Thr313=)
|
rs1382139686
|
|
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
|
|
|
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
|
|
|
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
|
|
|
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
|
|
|
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
|
|
|
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
|
|
|
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
|
|
|
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
|
|
|
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
|
|
|
NM_006363.6(SEC23B):c.1109+10C>G
|
|
|
NM_006363.6(SEC23B):c.1109+11A>C
|
|
|
NM_006363.6(SEC23B):c.1109+19C>A
|
|
|
NM_006363.6(SEC23B):c.1109+7T>C
|
|
|
NM_006363.6(SEC23B):c.1110-20A>T
|
|
|
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
|
|
|
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
|
|
|
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
|
|
|
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
|
|
|
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
|
|
|
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
|
|
|
NM_006363.6(SEC23B):c.1233+10A>C
|
|
|
NM_006363.6(SEC23B):c.1233+12T>A
|
|
|
NM_006363.6(SEC23B):c.1233+15T>A
|
|
|
NM_006363.6(SEC23B):c.1233+8_1233+9insG
|
|
|
NM_006363.6(SEC23B):c.1234-13A>C
|
|
|
NM_006363.6(SEC23B):c.1234-13A>G
|
|
|
NM_006363.6(SEC23B):c.1234-13A>T
|
|
|
NM_006363.6(SEC23B):c.1234-14_1234-13del
|
rs765849514
|
|
NM_006363.6(SEC23B):c.1234-16C>A
|
|
|
NM_006363.6(SEC23B):c.1234-18G>A
|
|
|
NM_006363.6(SEC23B):c.1234-20C>T
|
|
|
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
|
|
|
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
|
|
|
NM_006363.6(SEC23B):c.1314+12A>T
|
|
|
NM_006363.6(SEC23B):c.1314+16C>T
|
|
|
NM_006363.6(SEC23B):c.1314+18A>G
|
|
|
NM_006363.6(SEC23B):c.1315-16C>T
|
|
|
NM_006363.6(SEC23B):c.1315-4C>G
|
|
|
NM_006363.6(SEC23B):c.1315-5C>T
|
|
|
NM_006363.6(SEC23B):c.1315-6C>T
|
|
|
NM_006363.6(SEC23B):c.1315-7C>T
|
|
|
NM_006363.6(SEC23B):c.1315-8A>G
|
|
|
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
|
|
|
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
|
|
|
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
|
|
|
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
|
|
|
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
|
|
|
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
|
|
|
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
|
|
|
NM_006363.6(SEC23B):c.1404+17C>T
|
|
|
NM_006363.6(SEC23B):c.1404+20A>G
|
|
|
NM_006363.6(SEC23B):c.1405-15C>T
|
|
|
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
|
|
|
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=)
|
rs748683808
|
|
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
|
|
|
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
|
|
|
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
|
|
|
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
|
|
|
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
|
|
|
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
|
|
|
NM_006363.6(SEC23B):c.1511+18C>T
|
|
|
NM_006363.6(SEC23B):c.1511+21_1511+24del
|
|
|
NM_006363.6(SEC23B):c.1512-11G>A
|
|
|
NM_006363.6(SEC23B):c.1512-19C>A
|
|
|
NM_006363.6(SEC23B):c.1512-5G>A
|
|
|
NM_006363.6(SEC23B):c.1512-7T>C
|
|
|
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
|
|
|
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
|
|
|
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
|
|
|
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
|
|
|
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
|
|
|
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
|
|
|
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
|
|
|
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
|
|
|
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
|
|
|
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
|
|
|
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
|
|
|
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)
|
rs138623580
|
|
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
|
|
|
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
|
|
|
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
|
|
|
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
|
|
|
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
|
|
|
NM_006363.6(SEC23B):c.1665+14A>G
|
|
|
NM_006363.6(SEC23B):c.1665+17G>A
|
|
|
NM_006363.6(SEC23B):c.1665+20A>T
|
|
|
NM_006363.6(SEC23B):c.1666-16T>G
|
|
|
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
|
|
|
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
|
|
|
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
|
|
|
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
|
|
|
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
|
|
|
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
|
|
|
NM_006363.6(SEC23B):c.1743+20A>G
|
|
|
NM_006363.6(SEC23B):c.1744-10G>C
|
|
|
NM_006363.6(SEC23B):c.1744-14del
|
|
|
NM_006363.6(SEC23B):c.1744-16T>C
|
|
|
NM_006363.6(SEC23B):c.1744-18C>T
|
|
|
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
|
|
|
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
|
|
|
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
|
|
|
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
|
|
|
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
|
|
|
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
|
|
|
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
|
|
|
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
|
|
|
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
|
|
|
NM_006363.6(SEC23B):c.1905+10dup
|
|
|
NM_006363.6(SEC23B):c.1905+12C>T
|
|
|
NM_006363.6(SEC23B):c.1905+16A>G
|
|
|
NM_006363.6(SEC23B):c.1905+8T>C
|
|
|
NM_006363.6(SEC23B):c.1905+8T>G
|
|
|
NM_006363.6(SEC23B):c.1905+9C>A
|
|
|
NM_006363.6(SEC23B):c.1906-11T>C
|
|
|
NM_006363.6(SEC23B):c.1906-12_1906-9del
|
|
|
NM_006363.6(SEC23B):c.1906-18C>G
|
|
|
NM_006363.6(SEC23B):c.1906-18C>T
|
|
|
NM_006363.6(SEC23B):c.1906-18_1906-14del
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[2]
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[3]
|
|
|
NM_006363.6(SEC23B):c.1906-7T>C
|
|
|
NM_006363.6(SEC23B):c.1906-8_1906-7del
|
|
|
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
|
|
|
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
|
|
|
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
|
|
|
NM_006363.6(SEC23B):c.1992+14ATTA[2]
|
|
|
NM_006363.6(SEC23B):c.1992+15_1992+17del
|
|
|
NM_006363.6(SEC23B):c.1992+17A>G
|
|
|
NM_006363.6(SEC23B):c.1992+8G>A
|
|
|
NM_006363.6(SEC23B):c.1992+8_1992+10del
|
|
|
NM_006363.6(SEC23B):c.1993-18T>C
|
|
|
NM_006363.6(SEC23B):c.1993-20G>A
|
|
|
NM_006363.6(SEC23B):c.1993-6G>C
|
|
|
NM_006363.6(SEC23B):c.1993-7T>C
|
|
|
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
|
|
|
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
|
|
|
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
|
|
|
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
|
|
|
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
|
|
|
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
|
|
|
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
|
|
|
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
|
|
|
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
|
|
|
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
|
|
|
NM_006363.6(SEC23B):c.2148+10C>T
|
|
|
NM_006363.6(SEC23B):c.2148+17C>G
|
|
|
NM_006363.6(SEC23B):c.2148+7G>A
|
|
|
NM_006363.6(SEC23B):c.2149-12T>C
|
|
|
NM_006363.6(SEC23B):c.2149-13G>C
|
|
|
NM_006363.6(SEC23B):c.2149-19G>T
|
|
|
NM_006363.6(SEC23B):c.2149-21TTG[4]
|
rs746737770
|
|
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
|
|
|
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
|
|
|
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
|
|
|
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
|
|
|
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)
|
rs1600281875
|
|
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
|
|
|
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
|
|
|
NM_006363.6(SEC23B):c.221+10C>G
|
|
|
NM_006363.6(SEC23B):c.221+163A>G
|
|
|
NM_006363.6(SEC23B):c.221+31A>T
|
|
|
NM_006363.6(SEC23B):c.2214+10C>A
|
|
|
NM_006363.6(SEC23B):c.2214+13_2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+15G>A
|
|
|
NM_006363.6(SEC23B):c.2214+15G>T
|
|
|
NM_006363.6(SEC23B):c.2215-18T>C
|
|
|
NM_006363.6(SEC23B):c.2215-19C>T
|
|
|
NM_006363.6(SEC23B):c.2215-9A>G
|
|
|
NM_006363.6(SEC23B):c.222-15T>A
|
|
|
NM_006363.6(SEC23B):c.222-17_222-15del
|
|
|
NM_006363.6(SEC23B):c.222-19_222-17del
|
|
|
NM_006363.6(SEC23B):c.222-4A>G
|
|
|
NM_006363.6(SEC23B):c.222-7C>G
|
|
|
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
|
|
|
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
|
|
|
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
|
|
|
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
|
|
|
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
|
|
|
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
|
|
|
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
|
|
|
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
|
|
|
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
|
|
|
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.279+13T>A
|
|
|
NM_006363.6(SEC23B):c.279+17T>A
|
|
|
NM_006363.6(SEC23B):c.280-10T>C
|
|
|
NM_006363.6(SEC23B):c.280-11C>T
|
|
|
NM_006363.6(SEC23B):c.280-12C>G
|
|
|
NM_006363.6(SEC23B):c.280-12C>T
|
|
|
NM_006363.6(SEC23B):c.280-13T>G
|
|
|
NM_006363.6(SEC23B):c.280-20_280-14del
|
|
|
NM_006363.6(SEC23B):c.280-8_280-6del
|
|
|
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
|
|
|
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
|
|
|
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
|
|
|
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
|
|
|
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
|
|
|
NM_006363.6(SEC23B):c.366+11T>C
|
|
|
NM_006363.6(SEC23B):c.366+13T>A
|
|
|
NM_006363.6(SEC23B):c.366+15G>C
|
|
|
NM_006363.6(SEC23B):c.366+17G>A
|
|
|
NM_006363.6(SEC23B):c.366+18C>T
|
|
|
NM_006363.6(SEC23B):c.367-8G>C
|
|
|
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
|
|
|
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
|
|
|
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
|
|
|
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
|
|
|
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
|
|
|
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
|
|
|
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
|
|
|
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
|
|
|
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.528T>C (p.His176=)
|
|
|
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
|
|
|
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
|
|
|
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
|
|
|
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
|
|
|
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
|
|
|
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
|
|
|
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
|
|
|
NM_006363.6(SEC23B):c.603+10T>C
|
|
|
NM_006363.6(SEC23B):c.603+12A>G
|
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|
NM_006363.6(SEC23B):c.604-10T>G
|
|
|
NM_006363.6(SEC23B):c.604-11_604-10insC
|
|
|
NM_006363.6(SEC23B):c.604-19T>G
|
|
|
NM_006363.6(SEC23B):c.604-20T>C
|
|
|
NM_006363.6(SEC23B):c.604-6T>C
|
|
|
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
|
|
|
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
|
|
|
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
|
|
|
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
|
|
|
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
|
|
|
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
|
|
|
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
|
|
|
NM_006363.6(SEC23B):c.689+14A>T
|
|
|
NM_006363.6(SEC23B):c.689+19G>T
|
|
|
NM_006363.6(SEC23B):c.689+7G>T
|
|
|
NM_006363.6(SEC23B):c.689+8C>T
|
|
|
NM_006363.6(SEC23B):c.689+9C>A
|
|
|
NM_006363.6(SEC23B):c.690-17C>T
|
|
|
NM_006363.6(SEC23B):c.690-4_690-3dup
|
|
|
NM_006363.6(SEC23B):c.690-7C>G
|
|
|
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
|
|
|
NM_006363.6(SEC23B):c.708C>T (p.His236=)
|
|
|
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
|
|
|
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
|
|
|
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
|
|
|
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
|
|
|
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
|
|
|
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
|
|
|
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
|
|
|
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
|
|
|
NM_006363.6(SEC23B):c.834+14T>C
|
rs2148899499
|
|
NM_006363.6(SEC23B):c.834+17C>G
|
|
|
NM_006363.6(SEC23B):c.834+17C>T
|
|
|
NM_006363.6(SEC23B):c.835-10G>A
|
|
|
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
|
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
|
|
|
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
|
|
|
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
|
|
|
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
|
|
|
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
|
|
|
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
|
|
|
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
|
|
|
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
|
|
|
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
|
|
|
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
|
|
|
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
|
rs143417821
|
|
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
|
|
|
NM_006363.6(SEC23B):c.993+11T>C
|
|
|
NM_006363.6(SEC23B):c.993+14G>A
|
|
|
NM_006363.6(SEC23B):c.993+15G>C
|
|
|
NM_006363.6(SEC23B):c.993+8C>G
|
|
|
NM_006363.6(SEC23B):c.993+8C>T
|
|
|
NM_006363.6(SEC23B):c.994-10C>G
|
|
|
NM_006363.6(SEC23B):c.994-13C>G
|
|
|
NM_006363.6(SEC23B):c.994-189T>A
|
|
|
NM_006363.6(SEC23B):c.994-189T>C
|
|
|
NM_006363.6(SEC23B):c.994-19A>G
|
|
|
NM_006363.6(SEC23B):c.994-20T>A
|
|
|
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)
|
|
|