NM_006363.6(SEC23B):c.1233+9A>G
|
rs6081189
|
0.91788
|
NM_006218.4(PIK3CA):c.1060-17C>A
|
rs2699896
|
0.55517
|
NM_000314.8(PTEN):c.1026+32T>G
|
rs555895
|
0.40232
|
NM_001382430.1(AKT1):c.175+100A>T
|
rs2494737
|
0.39797
|
NM_006363.6(SEC23B):c.1744-20T>A
|
rs3736775
|
0.33572
|
NM_001382430.1(AKT1):c.726G>A (p.Glu242=)
|
rs1130233
|
0.22241
|
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)
|
rs2273526
|
0.12707
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)
|
rs2230461
|
0.10578
|
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)
|
rs17807673
|
0.10334
|
NM_006363.6(SEC23B):c.1405-7C>T
|
rs2273525
|
0.09089
|
NM_006218.4(PIK3CA):c.1747-13T>C
|
rs41273619
|
0.05277
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_001382430.1(AKT1):c.604C>T (p.Leu202=)
|
rs2230506
|
0.03899
|
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)
|
rs7262532
|
0.03235
|
NM_001382430.1(AKT1):c.558C>T (p.Ile186=)
|
rs34670300
|
0.02248
|
NM_001382430.1(AKT1):c.567+14G>A
|
rs3730345
|
0.01364
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)
|
rs139297659
|
0.01008
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=)
|
rs11555434
|
0.00876
|
NM_006363.6(SEC23B):c.834+116A>G
|
rs113825530
|
0.00772
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)
|
rs115746478
|
0.00769
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)
|
rs147036760
|
0.00699
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)
|
rs141588462
|
0.00677
|
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)
|
rs115177758
|
0.00677
|
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
|
rs36023150
|
0.00602
|
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)
|
rs111572459
|
0.00474
|
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)
|
rs116164892
|
0.00404
|
NM_006363.6(SEC23B):c.1404+20_1404+21del
|
rs369173250
|
0.00378
|
NM_006218.4(PIK3CA):c.*29T>C
|
rs141178472
|
0.00333
|
NM_006363.6(SEC23B):c.221+76A>G
|
rs183784857
|
0.00333
|
NM_006363.6(SEC23B):c.1666-148G>C
|
rs116352690
|
0.00329
|
NM_006363.6(SEC23B):c.835-7A>G
|
rs184484121
|
0.00317
|
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_006363.6(SEC23B):c.993+19G>A
|
rs144225458
|
0.00281
|
NM_006218.4(PIK3CA):c.2016-12C>T
|
rs147286696
|
0.00275
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_001382430.1(AKT1):c.1389C>T (p.Ser463=)
|
rs144112075
|
0.00237
|
NM_006363.6(SEC23B):c.367-17T>C
|
rs77096313
|
0.00235
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=)
|
rs144088506
|
0.00224
|
NM_006363.6(SEC23B):c.689+10C>T
|
rs200020725
|
0.00220
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
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_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
NM_001382430.1(AKT1):c.957+18G>A
|
rs35314414
|
0.00155
|
NM_000314.8(PTEN):c.-9C>G
|
rs11202592
|
0.00139
|
NM_000314.8(PTEN):c.79+35C>T
|
rs190707033
|
0.00130
|
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=)
|
rs116336243
|
0.00117
|
NM_006363.6(SEC23B):c.66C>T (p.Asn22=)
|
rs144542988
|
0.00098
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_001382430.1(AKT1):c.288-14C>T
|
rs138386095
|
0.00083
|
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu)
|
rs398123328
|
0.00068
|
NM_001382430.1(AKT1):c.47-12G>A
|
rs17846816
|
0.00067
|
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)
|
rs56289559
|
0.00063
|
NM_001382430.1(AKT1):c.432C>T (p.Arg144=)
|
rs17846825
|
0.00060
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
NM_006218.4(PIK3CA):c.1747-9C>T
|
rs201779641
|
0.00046
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)
|
rs146875699
|
0.00045
|
NM_001382430.1(AKT1):c.1364-11del
|
rs548780765
|
0.00044
|
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=)
|
rs139394285
|
0.00043
|
NM_006363.6(SEC23B):c.1233+4C>T
|
rs201883785
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
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.140A>G (p.His47Arg)
|
rs190372148
|
0.00032
|
NM_006218.4(PIK3CA):c.2015+9A>G
|
rs200768351
|
0.00032
|
NM_001382430.1(AKT1):c.567+12G>A
|
rs201432590
|
0.00031
|
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_001382430.1(AKT1):c.1363+12C>T
|
rs61761248
|
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_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
|
rs201160833
|
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.325G>A (p.Glu109Lys)
|
rs121918221
|
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_006218.4(PIK3CA):c.2985C>T (p.Ala995=)
|
rs201884756
|
0.00018
|
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_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_001382430.1(AKT1):c.288-3C>T
|
rs61761189
|
0.00016
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=)
|
rs201193059
|
0.00016
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_001382430.1(AKT1):c.406G>A (p.Val136Met)
|
rs778376616
|
0.00015
|
NM_001382430.1(AKT1):c.855C>T (p.Asp285=)
|
rs149484260
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_006363.6(SEC23B):c.1993-16G>A
|
rs375390042
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
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_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=)
|
rs184263655
|
0.00011
|
NM_001382430.1(AKT1):c.7G>A (p.Asp3Asn)
|
rs140532443
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
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_006363.6(SEC23B):c.835-11C>T
|
rs370797703
|
0.00011
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
NM_001382430.1(AKT1):c.1260+12C>T
|
rs765383641
|
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.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_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
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_001382430.1(AKT1):c.958-7C>T
|
rs369048965
|
0.00007
|
NM_006218.4(PIK3CA):c.1404+19T>G
|
rs200001396
|
0.00007
|
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)
|
rs147135162
|
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.1394G>A (p.Arg465His)
|
rs113547523
|
0.00006
|
NM_001382430.1(AKT1):c.435+17C>T
|
rs372112260
|
0.00006
|
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr)
|
rs758456890
|
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_001382430.1(AKT1):c.958-6G>A
|
rs199770031
|
0.00006
|
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)
|
rs200671534
|
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_001382430.1(AKT1):c.1228G>A (p.Gly410Ser)
|
rs146483593
|
0.00005
|
NM_001382430.1(AKT1):c.142C>T (p.Arg48Cys)
|
rs374093099
|
0.00005
|
NM_001382430.1(AKT1):c.174G>A (p.Ala58=)
|
rs560243859
|
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_006218.4(PIK3CA):c.1528C>A (p.His510Asn)
|
rs199747934
|
0.00005
|
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser)
|
rs201371389
|
0.00005
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)
|
rs759146033
|
0.00005
|
NM_000314.8(PTEN):c.612A>G (p.Pro204=)
|
rs539074063
|
0.00004
|
NM_001382430.1(AKT1):c.10G>A (p.Val4Met)
|
rs754031503
|
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.1390G>A (p.Glu464Lys)
|
rs745803788
|
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.287+5G>A
|
rs373853807
|
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.828+4C>T
|
rs3730330
|
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.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_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=)
|
rs778443189
|
0.00004
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)
|
rs763130110
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
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.492G>A (p.Lys164=)
|
rs146629065
|
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.1112C>A (p.Thr371Lys)
|
rs781388586
|
0.00003
|
NM_001382430.1(AKT1):c.1198A>G (p.Lys400Glu)
|
rs773607483
|
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.1260+4C>T
|
rs765999603
|
0.00003
|
NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile)
|
rs751976958
|
0.00003
|
NM_001382430.1(AKT1):c.1364-10A>G
|
rs755530413
|
0.00003
|
NM_001382430.1(AKT1):c.1373T>C (p.Met458Thr)
|
rs587778018
|
0.00003
|
NM_001382430.1(AKT1):c.361C>T (p.Arg121Trp)
|
rs369198922
|
0.00003
|
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln)
|
rs1457484217
|
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_001382430.1(AKT1):c.751C>T (p.Arg251Cys)
|
rs780571834
|
0.00003
|
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg)
|
rs759143732
|
0.00003
|
NM_003002.4(SDHD):c.118A>G (p.Ile40Val)
|
rs146276662
|
0.00003
|
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu)
|
rs149516118
|
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.38C>T (p.Ala13Val)
|
rs750080041
|
0.00003
|
NM_003002.4(SDHD):c.52+13C>G
|
rs954474648
|
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_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)
|
rs778348206
|
0.00003
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)
|
rs121918224
|
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.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.900C>T (p.Ile300=)
|
rs550122918
|
0.00002
|
NM_001382430.1(AKT1):c.1243C>T (p.His415Tyr)
|
rs777696700
|
0.00002
|
NM_001382430.1(AKT1):c.1260+15C>T
|
rs774786647
|
0.00002
|
NM_001382430.1(AKT1):c.1260+5G>A
|
rs760365810
|
0.00002
|
NM_001382430.1(AKT1):c.1436C>T (p.Thr479Met)
|
rs201291259
|
0.00002
|
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=)
|
rs555187157
|
0.00002
|
NM_001382430.1(AKT1):c.199C>T (p.Arg67Trp)
|
rs762559261
|
0.00002
|
NM_001382430.1(AKT1):c.278C>A (p.Pro93His)
|
rs1296782302
|
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.374C>T (p.Pro125Leu)
|
rs759031755
|
0.00002
|
NM_001382430.1(AKT1):c.436-3T>C
|
rs368553273
|
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.664C>T (p.Arg222Cys)
|
rs551254461
|
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_001382430.1(AKT1):c.807C>T (p.Asn269=)
|
rs201044857
|
0.00002
|
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
|
rs752689382
|
0.00002
|
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
|
rs753724042
|
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.398C>A (p.Ala133Asp)
|
rs755584530
|
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.464T>A (p.Met155Lys)
|
rs1060503776
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003002.4(SDHD):c.52+8G>A
|
rs370761122
|
0.00002
|
NM_003002.4(SDHD):c.56T>C (p.Leu19Pro)
|
rs574698019
|
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_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)
|
rs201921350
|
0.00002
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00002
|
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)
|
rs752037101
|
0.00002
|
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)
|
rs757662443
|
0.00002
|
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
|
rs752664090
|
0.00002
|
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)
|
rs368413002
|
0.00002
|
NM_000314.8(PTEN):c.1001A>G (p.Asn334Ser)
|
rs1206321984
|
0.00001
|
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.1026+6T>A
|
rs1274425509
|
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.1087A>G (p.Thr363Ala)
|
rs765416558
|
0.00001
|
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile)
|
rs758542021
|
0.00001
|
NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser)
|
rs1370349057
|
0.00001
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)
|
rs786203911
|
0.00001
|
NM_000314.8(PTEN):c.1203A>G (p.Thr401=)
|
rs876659102
|
0.00001
|
NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn)
|
rs1064796017
|
0.00001
|
NM_000314.8(PTEN):c.1209C>G (p.Val403=)
|
rs1860740348
|
0.00001
|
NM_000314.8(PTEN):c.133G>A (p.Val45Ile)
|
rs1382752324
|
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.210-9T>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.269T>C (p.Phe90Ser)
|
rs1859965098
|
0.00001
|
NM_000314.8(PTEN):c.288A>G (p.Pro96=)
|
rs746661067
|
0.00001
|
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter)
|
rs786204928
|
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.349A>C (p.Asn117His)
|
rs771310592
|
0.00001
|
NM_000314.8(PTEN):c.350A>G (p.Asn117Ser)
|
rs551221430
|
0.00001
|
NM_000314.8(PTEN):c.360A>C (p.Ala120=)
|
rs759485888
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln)
|
rs753630034
|
0.00001
|
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg)
|
rs757087471
|
0.00001
|
NM_000314.8(PTEN):c.441G>A (p.Lys147=)
|
rs1564830394
|
0.00001
|
NM_000314.8(PTEN):c.451G>A (p.Ala151Thr)
|
rs1859982098
|
0.00001
|
NM_000314.8(PTEN):c.472G>T (p.Val158Leu)
|
rs1554898217
|
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.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000314.8(PTEN):c.523G>A (p.Val175Met)
|
rs1860417734
|
0.00001
|
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys)
|
rs757498880
|
0.00001
|
NM_000314.8(PTEN):c.606T>C (p.Thr202=)
|
rs1242879806
|
0.00001
|
NM_000314.8(PTEN):c.613A>G (p.Met205Val)
|
rs776763121
|
0.00001
|
NM_000314.8(PTEN):c.614T>C (p.Met205Thr)
|
rs1185592373
|
0.00001
|
NM_000314.8(PTEN):c.624C>T (p.Gly208=)
|
rs370162160
|
0.00001
|
NM_000314.8(PTEN):c.625G>A (p.Gly209Arg)
|
rs765433422
|
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.673T>C (p.Tyr225His)
|
rs876659433
|
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.77C>T (p.Thr26Ile)
|
rs786204853
|
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.823G>A (p.Val275Ile)
|
rs1410198544
|
0.00001
|
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala)
|
rs750705904
|
0.00001
|
NM_000314.8(PTEN):c.858C>G (p.Thr286=)
|
rs876660443
|
0.00001
|
NM_000314.8(PTEN):c.865A>G (p.Lys289Glu)
|
rs562015640
|
0.00001
|
NM_000314.8(PTEN):c.885A>G (p.Leu295=)
|
rs587780713
|
0.00001
|
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr)
|
rs1060500121
|
0.00001
|
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)
|
rs758644748
|
0.00001
|
NM_000314.8(PTEN):c.905G>A (p.Ser302Asn)
|
rs745638189
|
0.00001
|
NM_000314.8(PTEN):c.908T>G (p.Ile303Ser)
|
rs772018727
|
0.00001
|
NM_000314.8(PTEN):c.923G>A (p.Arg308His)
|
rs786201507
|
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.956C>T (p.Thr319Ile)
|
rs761350690
|
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.101C>A (p.Thr34Asn)
|
rs750653493
|
0.00001
|
NM_001382430.1(AKT1):c.1036C>T (p.Arg346Cys)
|
rs1168658858
|
0.00001
|
NM_001382430.1(AKT1):c.107T>C (p.Ile36Thr)
|
rs758157217
|
0.00001
|
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=)
|
rs1566816352
|
0.00001
|
NM_001382430.1(AKT1):c.1092G>A (p.Glu364=)
|
rs773975370
|
0.00001
|
NM_001382430.1(AKT1):c.1099C>T (p.Arg367Cys)
|
rs762705090
|
0.00001
|
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=)
|
rs1595241867
|
0.00001
|
NM_001382430.1(AKT1):c.1109G>A (p.Arg370His)
|
rs746272761
|
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+5G>A
|
rs751392710
|
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.1189G>A (p.Glu397Lys)
|
rs531850885
|
0.00001
|
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=)
|
rs748654766
|
0.00001
|
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln)
|
rs766000895
|
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.1289C>T (p.Thr430Met)
|
rs749186394
|
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.1361A>G (p.Gln454Arg)
|
rs759702315
|
0.00001
|
NM_001382430.1(AKT1):c.1363+9C>T
|
rs926451222
|
0.00001
|
NM_001382430.1(AKT1):c.1372A>G (p.Met458Val)
|
rs1360782672
|
0.00001
|
NM_001382430.1(AKT1):c.1432G>A (p.Gly478Ser)
|
rs1205616929
|
0.00001
|
NM_001382430.1(AKT1):c.143G>A (p.Arg48His)
|
rs774836044
|
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.206G>A (p.Arg69Gln)
|
rs183989506
|
0.00001
|
NM_001382430.1(AKT1):c.227G>A (p.Arg76His)
|
rs771065764
|
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.287+4C>T
|
rs745831501
|
0.00001
|
NM_001382430.1(AKT1):c.294G>A (p.Glu98=)
|
rs766755485
|
0.00001
|
NM_001382430.1(AKT1):c.325G>A (p.Gly109Ser)
|
rs768800433
|
0.00001
|
NM_001382430.1(AKT1):c.343G>A (p.Glu115Lys)
|
rs1338783398
|
0.00001
|
NM_001382430.1(AKT1):c.365C>T (p.Ser122Leu)
|
rs746934495
|
0.00001
|
NM_001382430.1(AKT1):c.387A>G (p.Ser129=)
|
rs747700076
|
0.00001
|
NM_001382430.1(AKT1):c.394G>A (p.Glu132Lys)
|
rs1319030326
|
0.00001
|
NM_001382430.1(AKT1):c.430C>T (p.Arg144Cys)
|
rs375990114
|
0.00001
|
NM_001382430.1(AKT1):c.431G>A (p.Arg144His)
|
rs1060503071
|
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.511G>A (p.Ala171Thr)
|
rs1016707349
|
0.00001
|
NM_001382430.1(AKT1):c.520C>T (p.Arg174Cys)
|
rs983007851
|
0.00001
|
NM_001382430.1(AKT1):c.521G>A (p.Arg174His)
|
rs1200003171
|
0.00001
|
NM_001382430.1(AKT1):c.525C>T (p.Tyr175=)
|
rs774828129
|
0.00001
|
NM_001382430.1(AKT1):c.567+5G>T
|
rs373741434
|
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.665G>A (p.Arg222His)
|
rs369698909
|
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.721C>T (p.Arg241Trp)
|
rs768606668
|
0.00001
|
NM_001382430.1(AKT1):c.746G>A (p.Arg249Gln)
|
rs745809388
|
0.00001
|
NM_001382430.1(AKT1):c.763G>A (p.Ala255Thr)
|
rs375395037
|
0.00001
|
NM_001382430.1(AKT1):c.797C>T (p.Ser266Leu)
|
rs549083521
|
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.907G>A (p.Gly303Ser)
|
rs1360111387
|
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.113G>A (p.Arg38Gln)
|
rs199901239
|
0.00001
|
NM_003002.4(SDHD):c.124G>A (p.Glu42Lys)
|
rs756995021
|
0.00001
|
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg)
|
rs778202647
|
0.00001
|
NM_003002.4(SDHD):c.141G>A (p.Gln47=)
|
rs1217254088
|
0.00001
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
NM_003002.4(SDHD):c.159G>A (p.Pro53=)
|
rs201368675
|
0.00001
|
NM_003002.4(SDHD):c.167A>C (p.His56Pro)
|
rs1555186817
|
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.180G>T (p.Lys60Asn)
|
rs750688879
|
0.00001
|
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)
|
rs104894307
|
0.00001
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
NM_003002.4(SDHD):c.211G>A (p.Val71Ile)
|
rs1428042303
|
0.00001
|
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly)
|
rs748545223
|
0.00001
|
NM_003002.4(SDHD):c.21G>A (p.Leu7=)
|
rs974401612
|
0.00001
|
NM_003002.4(SDHD):c.230T>C (p.Leu77Pro)
|
rs777963699
|
0.00001
|
NM_003002.4(SDHD):c.231G>C (p.Leu77=)
|
rs1187106228
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.243G>C (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
|
rs772671893
|
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.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys)
|
rs199754684
|
0.00001
|
NM_003002.4(SDHD):c.293C>T (p.Ala98Val)
|
rs200980609
|
0.00001
|
NM_003002.4(SDHD):c.297C>T (p.Leu99=)
|
rs749657880
|
0.00001
|
NM_003002.4(SDHD):c.301C>T (p.Leu101Phe)
|
rs1165258369
|
0.00001
|
NM_003002.4(SDHD):c.310C>G (p.His104Asp)
|
rs779863605
|
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.328G>A (p.Val110Ile)
|
rs1060503771
|
0.00001
|
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)
|
rs201869798
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
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.344T>C (p.Val115Ala)
|
rs1489012268
|
0.00001
|
NM_003002.4(SDHD):c.353A>G (p.Asp118Gly)
|
rs750857413
|
0.00001
|
NM_003002.4(SDHD):c.356C>T (p.Ala119Val)
|
rs758784300
|
0.00001
|
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp)
|
rs764384503
|
0.00001
|
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn)
|
rs878854595
|
0.00001
|
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro)
|
rs1312671864
|
0.00001
|
NM_003002.4(SDHD):c.400T>G (p.Leu134Val)
|
rs200851392
|
0.00001
|
NM_003002.4(SDHD):c.405C>A (p.Thr135=)
|
rs1555187606
|
0.00001
|
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
|
rs1394514096
|
0.00001
|
NM_003002.4(SDHD):c.422A>G (p.Tyr141Cys)
|
rs199772639
|
0.00001
|
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser)
|
rs770909248
|
0.00001
|
NM_003002.4(SDHD):c.430T>C (p.Tyr144His)
|
rs774243340
|
0.00001
|
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)
|
rs745732631
|
0.00001
|
NM_003002.4(SDHD):c.433C>A (p.His145Asn)
|
rs121908984
|
0.00001
|
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly)
|
rs1314133983
|
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_003002.4(SDHD):c.53-1G>T
|
rs1291507545
|
0.00001
|
NM_003002.4(SDHD):c.5C>T (p.Ala2Val)
|
rs1440670464
|
0.00001
|
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.82C>T (p.Pro28Ser)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)
|
rs776930864
|
0.00001
|
NM_003002.4(SDHD):c.88C>T (p.His30Tyr)
|
rs561759202
|
0.00001
|
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
|
rs1592778803
|
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
|
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.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)
|
rs150210442
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)
|
rs757801115
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)
|
rs755836066
|
0.00001
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)
|
rs921580564
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
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.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val)
|
rs754320262
|
0.00001
|
NM_006363.6(SEC23B):c.711G>A (p.Lys237=)
|
rs773579451
|
0.00001
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
|
rs1363436677
|
0.00001
|
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_000010.10:g.(?_88428449)_(89725229_?)del
|
|
|
NC_000010.10:g.(?_89514444)_(90537999_?)del
|
|
|
NC_000010.10:g.(?_89621800)_(89624340_?)del
|
|
|
NC_000010.10:g.(?_89621800)_(89624340_?)dup
|
|
|
NC_000010.10:g.(?_89621800)_(89685324_?)del
|
|
|
NC_000010.10:g.(?_89621800)_(89693018_?)del
|
|
|
NC_000010.10:g.(?_89621800)_(89725321_?)del
|
|
|
NC_000010.10:g.(?_89621946)_(89623527_?)dup
|
|
|
NC_000010.10:g.(?_89622083)_(89623527_?)dup
|
|
|
NC_000010.10:g.(?_89622918)_(89624325_?)dup
|
|
|
NC_000010.10:g.(?_89622928)_(89712026_?)del
|
|
|
NC_000010.10:g.(?_89622928)_(89725229_?)del
|
|
|
NC_000010.10:g.(?_89622928)_(89725239_?)dup
|
|
|
NC_000010.10:g.(?_89624218)_(89624340_?)dup
|
|
|
NC_000010.10:g.(?_89653180)_(89653844_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89685324_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89693018_?)del
|
|
|
NC_000010.10:g.(?_89685260)_(89693018_?)dup
|
|
|
NC_000010.10:g.(?_89685260)_(89725321_?)del
|
|
|
NC_000010.10:g.(?_89690793)_(89693018_?)del
|
|
|
NC_000010.10:g.(?_89711865)_(89712026_?)dup
|
|
|
NC_000010.10:g.(?_89711865)_(89720885_?)dup
|
|
|
NC_000010.10:g.(?_89711865)_(89725321_?)dup
|
|
|
NC_000010.10:g.(?_89717600)_(89717786_?)del
|
|
|
NC_000010.10:g.(?_89717600)_(89720885_?)del
|
|
|
NC_000010.10:g.(?_89725034)_(89725321_?)del
|
|
|
NC_000010.10:g.89711945_89711946insAlu
|
|
|
NC_000010.11:g.(?_86755016)_(87965564_?)del
|
|
|
NC_000010.11:g.(?_86875868)_(87894129_?)del
|
|
|
NC_000010.11:g.(?_87552082)_(88768928_?)del
|
|
|
NC_000010.11:g.(?_87862043)_(87863770_?)dup
|
|
|
NC_000010.11:g.(?_87863161)_(87894129_?)del
|
|
|
NC_000010.11:g.(?_87863161)_(88948936_?)del
|
|
|
NC_000010.11:g.(?_87863171)_(87863770_?)del
|
|
|
NC_000010.11:g.(?_87863171)_(87864558_?)del
|
|
|
NC_000010.11:g.(?_87863171)_(87864558_?)dup
|
|
|
NC_000010.11:g.(?_87894015)_(87894119_?)del
|
|
|
NC_000010.11:g.(?_87894015)_(87965482_?)del
|
|
|
NC_000010.11:g.(?_87894025)_(87894109_?)del
|
|
|
NC_000010.11:g.(?_87925503)_(87925567_?)dup
|
|
|
NC_000010.11:g.(?_87925503)_(87965482_?)del
|
|
|
NC_000010.11:g.(?_87931026)_(87958039_?)del
|
|
|
NC_000010.11:g.(?_87931036)_(87931099_?)del
|
|
|
NC_000010.11:g.(?_87931040)_(87933257_?)del
|
|
|
NC_000010.11:g.(?_87952108)_(87952269_?)del
|
|
|
NC_000010.11:g.(?_87952108)_(87958029_?)del
|
|
|
NC_000010.11:g.(?_87952108)_(87965482_?)dup
|
|
|
NC_000010.11:g.(?_87952112)_(87952265_?)del
|
|
|
NC_000010.11:g.(?_87960841)_(87960878_?)del
|
|
|
NC_000010.11:g.(?_87960884)_(87961128_?)del
|
|
|
NC_000010.11:g.(?_87960888)_(87961124_?)del
|
|
|
NC_000010.11:g.(?_87965277)_(87965564_?)dup
|
|
|
NC_000010.11:g.87952119del
|
rs2132268865
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112086898)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112086902)_(112094975_?)del
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112088857)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094970_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094799)_(112094976_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111959745_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111956548)_(111967525_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111959745_?)dup
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111959581)_(111965694_?)del
|
|
|
NC_000014.8:g.(?_105236678)_(105258980_?)dup
|
|
|
NC_000014.8:g.(?_105258915)_(105268803_?)dup
|
|
|
NC_000014.9:g.(?_104792588)_(104792643_?)dup
|
|
|
NC_000014.9:g.104775025_104775026insATGCCACCCCGTCCTGTAAAGCAGGGCTGGGTGAG
|
|
|
NC_000014.9:g.104780217dup
|
rs34409589
|
|
NC_000020.10:g.(?_18449649)_(18541384_?)dup
|
|
|
NC_000020.10:g.(?_18516277)_(18516406_?)del
|
|
|
NC_000020.11:g.(?_18512225)_(18515736_?)del
|
|
|
NC_000020.11:g.18507416A>G
|
|
|
NC_000020.11:g.18512225_18512228del
|
|
|
NM_000314.6(PTEN):c.80-?_492+?del
|
|
|
NM_000314.8(PTEN):c.*75del
|
rs878853930
|
|
NM_000314.8(PTEN):c.-312_18del (p.Met1_Lys6del)
|
|
|
NM_000314.8(PTEN):c.-511G>A
|
rs12573787
|
|
NM_000314.8(PTEN):c.-844T>C
|
rs587779995
|
|
NM_000314.8(PTEN):c.1001A>T (p.Asn334Ile)
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1003del (p.Arg335fs)
|
rs1860633095
|
|
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln)
|
rs1085308040
|
|
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.1006T>C (p.Tyr336His)
|
rs1860633558
|
|
NM_000314.8(PTEN):c.1006dup (p.Tyr336fs)
|
rs1554825631
|
|
NM_000314.8(PTEN):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter)
|
rs2132283619
|
|
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter)
|
rs786201816
|
|
NM_000314.8(PTEN):c.100G>A (p.Ala34Thr)
|
|
|
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)
|
rs1589617199
|
|
NM_000314.8(PTEN):c.1011T>C (p.Phe337=)
|
rs876659916
|
|
NM_000314.8(PTEN):c.1012T>A (p.Ser338Thr)
|
rs2132283644
|
|
NM_000314.8(PTEN):c.1012dup (p.Ser338fs)
|
|
|
NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr)
|
|
|
NM_000314.8(PTEN):c.1013C>G (p.Ser338Cys)
|
|
|
NM_000314.8(PTEN):c.1013del (p.Ser338fs)
|
rs1860634226
|
|
NM_000314.8(PTEN):c.1015C>T (p.Pro339Ser)
|
rs1860634292
|
|
NM_000314.8(PTEN):c.1017A>G (p.Pro339=)
|
rs1554825644
|
|
NM_000314.8(PTEN):c.1018A>C (p.Asn340His)
|
rs759852661
|
|
NM_000314.8(PTEN):c.1018A>G (p.Asn340Asp)
|
rs759852661
|
|
NM_000314.8(PTEN):c.1020T>A (p.Asn340Lys)
|
rs1554825649
|
|
NM_000314.8(PTEN):c.1021T>A (p.Phe341Ile)
|
rs1554825652
|
|
NM_000314.8(PTEN):c.1022T>G (p.Phe341Cys)
|
rs1860635056
|
|
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+1G>A
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+1G>C
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+1G>T
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+2T>G
|
rs1114167624
|
|
NM_000314.8(PTEN):c.1026+3C>T
|
rs2132283767
|
|
NM_000314.8(PTEN):c.1026+4A>T
|
rs2132283772
|
|
NM_000314.8(PTEN):c.1026+5G>C
|
rs1860635601
|
|
NM_000314.8(PTEN):c.1026+5G>T
|
|
|
NM_000314.8(PTEN):c.1026+7T>A
|
rs1589666333
|
|
NM_000314.8(PTEN):c.1026+9A>C
|
rs1554825657
|
|
NM_000314.8(PTEN):c.1026G>A (p.Lys342=)
|
rs398123314
|
|
NM_000314.8(PTEN):c.1026G>T (p.Lys342Asn)
|
rs398123314
|
|
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.1027-1852A>G
|
|
|
NM_000314.8(PTEN):c.1027-19T>C
|
|
|
NM_000314.8(PTEN):c.1027-1G>A
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-2A>C
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1027-2A>G
|
rs1085308041
|
|
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.1027-72_1028del
|
rs1860730253
|
|
NM_000314.8(PTEN):c.1027-7T>C
|
rs2132289086
|
|
NM_000314.8(PTEN):c.1027-7del
|
rs2132289077
|
|
NM_000314.8(PTEN):c.1027-8_1027-5del
|
|
|
NM_000314.8(PTEN):c.1027-9T>C
|
rs1156734821
|
|
NM_000314.8(PTEN):c.1027G>A (p.Val343Met)
|
rs1060500120
|
|
NM_000314.8(PTEN):c.1027G>T (p.Val343Leu)
|
|
|
NM_000314.8(PTEN):c.1029G>A (p.Val343=)
|
rs1393550059
|
|
NM_000314.8(PTEN):c.1029_1039del (p.Lys344fs)
|
rs1064796236
|
|
NM_000314.8(PTEN):c.102T>A (p.Ala34=)
|
rs1472278114
|
|
NM_000314.8(PTEN):c.1032_1033insAC (p.Leu345fs)
|
rs1860732201
|
|
NM_000314.8(PTEN):c.1033C>G (p.Leu345Val)
|
rs1114167639
|
|
NM_000314.8(PTEN):c.1034T>A (p.Leu345Gln)
|
|
|
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.1037A>G (p.Tyr346Cys)
|
rs1554826026
|
|
NM_000314.8(PTEN):c.1038C>T (p.Tyr346=)
|
rs2132289237
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.1041C>G (p.Phe347Leu)
|
rs1554826029
|
|
NM_000314.8(PTEN):c.1041C>T (p.Phe347=)
|
rs1554826029
|
|
NM_000314.8(PTEN):c.1042A>C (p.Thr348Pro)
|
|
|
NM_000314.8(PTEN):c.1044A>G (p.Thr348=)
|
rs747606399
|
|
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)
|
rs121909225
|
|
NM_000314.8(PTEN):c.1052_1054del (p.Val351del)
|
rs587780003
|
|
NM_000314.8(PTEN):c.1054G>C (p.Glu352Gln)
|
rs1554826034
|
|
NM_000314.8(PTEN):c.1054GAG[1] (p.Glu353del)
|
rs878853931
|
|
NM_000314.8(PTEN):c.1055A>G (p.Glu352Gly)
|
rs2132289351
|
|
NM_000314.8(PTEN):c.1057G>A (p.Glu353Lys)
|
|
|
NM_000314.8(PTEN):c.1058A>G (p.Glu353Gly)
|
rs878853932
|
|
NM_000314.8(PTEN):c.105G>A (p.Met35Ile)
|
rs1554893782
|
|
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)
|
rs375709098
|
|
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)
|
rs587782345
|
|
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr)
|
rs587782345
|
|
NM_000314.8(PTEN):c.1068T>A (p.Asn356Lys)
|
rs1564570356
|
|
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)
|
rs876661264
|
|
NM_000314.8(PTEN):c.1069C>G (p.Pro357Ala)
|
rs876661264
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106G>T (p.Gly36Ter)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106_109del (p.Gly36fs)
|
rs2132187310
|
|
NM_000314.8(PTEN):c.1071A>G (p.Pro357=)
|
|
|
NM_000314.8(PTEN):c.1072G>A (p.Glu358Lys)
|
rs1554826040
|
|
NM_000314.8(PTEN):c.1072G>C (p.Glu358Gln)
|
rs1554826040
|
|
NM_000314.8(PTEN):c.1074G>A (p.Glu358=)
|
rs876659464
|
|
NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp)
|
rs876659464
|
|
NM_000314.8(PTEN):c.1075G>T (p.Ala359Ser)
|
rs864622594
|
|
NM_000314.8(PTEN):c.1079G>C (p.Ser360Thr)
|
rs1060500127
|
|
NM_000314.8(PTEN):c.1081A>C (p.Ser361Arg)
|
rs1472028496
|
|
NM_000314.8(PTEN):c.1088C>T (p.Thr363Ile)
|
rs750585255
|
|
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.1090T>C (p.Ser364Pro)
|
rs1860735904
|
|
NM_000314.8(PTEN):c.1091C>G (p.Ser364Cys)
|
rs1164665914
|
|
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.1096A>G (p.Thr366Ala)
|
rs1564570409
|
|
NM_000314.8(PTEN):c.1098A>C (p.Thr366=)
|
rs1554826045
|
|
NM_000314.8(PTEN):c.10A>G (p.Ile4Val)
|
|
|
NM_000314.8(PTEN):c.1101A>G (p.Pro367=)
|
rs2132289693
|
|
NM_000314.8(PTEN):c.1103A>T (p.Asp368Val)
|
rs1860736589
|
|
NM_000314.8(PTEN):c.1105G>A (p.Val369Ile)
|
rs587782224
|
|
NM_000314.8(PTEN):c.1107T>C (p.Val369=)
|
rs1554826048
|
|
NM_000314.8(PTEN):c.110_112del (p.Phe37_Pro38delinsSer)
|
|
|
NM_000314.8(PTEN):c.1114A>G (p.Asn372Asp)
|
rs2132289789
|
|
NM_000314.8(PTEN):c.1116T>C (p.Asn372=)
|
rs1060503845
|
|
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)
|
rs1554826049
|
|
NM_000314.8(PTEN):c.1118_1122dup (p.Asp375fs)
|
|
|
NM_000314.8(PTEN):c.1119A>G (p.Glu373=)
|
|
|
NM_000314.8(PTEN):c.111del (p.Pro38fs)
|
|
|
NM_000314.8(PTEN):c.111dup (p.Pro38fs)
|
rs1114167636
|
|
NM_000314.8(PTEN):c.1123G>A (p.Asp375Asn)
|
rs1564570429
|
|
NM_000314.8(PTEN):c.1123del (p.Asp375fs)
|
|
|
NM_000314.8(PTEN):c.1124A>G (p.Asp375Gly)
|
rs1589669344
|
|
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser)
|
rs587780004
|
|
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe)
|
rs751286806
|
|
NM_000314.8(PTEN):c.1131T>C (p.Tyr377=)
|
rs1345063638
|
|
NM_000314.8(PTEN):c.1131_1132del (p.Tyr377_Arg378delinsTer)
|
rs1860737554
|
|
NM_000314.8(PTEN):c.1132A>G (p.Arg378Gly)
|
rs1554826055
|
|
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.1137_1140del (p.Arg378_Tyr379insTer)
|
rs2132289978
|
|
NM_000314.8(PTEN):c.1139del (p.Ser380fs)
|
rs2132289992
|
|
NM_000314.8(PTEN):c.113C>A (p.Pro38His)
|
rs1064796886
|
|
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.1159C>T (p.Pro387Ser)
|
rs2132290116
|
|
NM_000314.8(PTEN):c.115G>A (p.Ala39Thr)
|
rs2132187379
|
|
NM_000314.8(PTEN):c.1160C>T (p.Pro387Leu)
|
rs1564570452
|
|
NM_000314.8(PTEN):c.1161A>G (p.Pro387=)
|
rs1057523975
|
|
NM_000314.8(PTEN):c.1164G>C (p.Glu388Asp)
|
rs1860738430
|
|
NM_000314.8(PTEN):c.1164G>T (p.Glu388Asp)
|
rs1860738430
|
|
NM_000314.8(PTEN):c.1166A>G (p.Asn389Ser)
|
rs1860738514
|
|
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter)
|
rs2132290171
|
|
NM_000314.8(PTEN):c.116C>A (p.Ala39Glu)
|
rs2132187390
|
|
NM_000314.8(PTEN):c.116C>T (p.Ala39Val)
|
|
|
NM_000314.8(PTEN):c.1170A>G (p.Glu390=)
|
rs1057524010
|
|
NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu)
|
rs1554826059
|
|
NM_000314.8(PTEN):c.1173T>C (p.Pro391=)
|
|
|
NM_000314.8(PTEN):c.1177G>T (p.Asp393Tyr)
|
rs1860739011
|
|
NM_000314.8(PTEN):c.117A>C (p.Ala39=)
|
rs1223327870
|
|
NM_000314.8(PTEN):c.117A>G (p.Ala39=)
|
|
|
NM_000314.8(PTEN):c.1182A>T (p.Glu394Asp)
|
|
|
NM_000314.8(PTEN):c.1183G>T (p.Asp395Tyr)
|
|
|
NM_000314.8(PTEN):c.1188G>A (p.Gln396=)
|
rs786202062
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
NM_000314.8(PTEN):c.1190A>G (p.His397Arg)
|
rs876661021
|
|
NM_000314.8(PTEN):c.1190A>T (p.His397Leu)
|
rs876661021
|
|
NM_000314.8(PTEN):c.1191T>G (p.His397Gln)
|
rs1860739604
|
|
NM_000314.8(PTEN):c.1193C>T (p.Thr398Ile)
|
rs1860739729
|
|
NM_000314.8(PTEN):c.1198A>G (p.Ile400Val)
|
rs863224665
|
|
NM_000314.8(PTEN):c.11T>C (p.Ile4Thr)
|
rs1858394571
|
|
NM_000314.8(PTEN):c.1200T>A (p.Ile400=)
|
|
|
NM_000314.8(PTEN):c.1202C>T (p.Thr401Ile)
|
rs1860740005
|
|
NM_000314.8(PTEN):c.1204A>G (p.Lys402Glu)
|
rs1554826064
|
|
NM_000314.8(PTEN):c.1207G>A (p.Val403Ile)
|
rs2132290414
|
|
NM_000314.8(PTEN):c.1207G>T (p.Val403Phe)
|
|
|
NM_000314.8(PTEN):c.1212A>C (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.122G>A (p.Arg41Lys)
|
|
|
NM_000314.8(PTEN):c.125T>C (p.Leu42Pro)
|
rs1859096966
|
|
NM_000314.8(PTEN):c.127G>T (p.Glu43Ter)
|
rs1554893808
|
|
NM_000314.8(PTEN):c.128A>C (p.Glu43Ala)
|
|
|
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.130G>A (p.Gly44Ser)
|
rs1554893812
|
|
NM_000314.8(PTEN):c.131dup (p.Val45fs)
|
rs1564814541
|
|
NM_000314.8(PTEN):c.132C>A (p.Gly44=)
|
rs150651961
|
|
NM_000314.8(PTEN):c.132dup (p.Val45fs)
|
rs878853933
|
|
NM_000314.8(PTEN):c.135A>G (p.Val45=)
|
rs959491852
|
|
NM_000314.8(PTEN):c.137A>G (p.Tyr46Cys)
|
rs786204915
|
|
NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter)
|
rs1114167672
|
|
NM_000314.8(PTEN):c.139A>G (p.Arg47Gly)
|
rs786204855
|
|
NM_000314.8(PTEN):c.13A>G (p.Ile5Val)
|
rs1060500109
|
|
NM_000314.8(PTEN):c.13A>T (p.Ile5Phe)
|
rs1060500109
|
|
NM_000314.8(PTEN):c.13del (p.Ile5fs)
|
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
NM_000314.8(PTEN):c.141_142inv (p.Arg47_Asn48delinsSerHis)
|
|
|
NM_000314.8(PTEN):c.141_160dup (p.Val54delinsGlyThrIleLeuMetMetTer)
|
rs2132187641
|
|
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser)
|
rs1859098783
|
|
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.144C>T (p.Asn48=)
|
rs762518389
|
|
NM_000314.8(PTEN):c.146A>G (p.Asn49Ser)
|
rs992385562
|
|
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
|
|
|
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)
|
rs1554893824
|
|
NM_000314.8(PTEN):c.14T>A (p.Ile5Asn)
|
rs2132145451
|
|
NM_000314.8(PTEN):c.150T>G (p.Ile50Met)
|
rs1564814601
|
|
NM_000314.8(PTEN):c.150del (p.Ile50fs)
|
rs1859099242
|
|
NM_000314.8(PTEN):c.152A>G (p.Asp51Gly)
|
rs1859099585
|
|
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del)
|
rs1589617371
|
|
NM_000314.8(PTEN):c.152_160dup (p.Asp51_Val53dup)
|
rs1564814602
|
|
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
|
|
|
NM_000314.8(PTEN):c.154G>A (p.Asp52Asn)
|
rs1564814606
|
|
NM_000314.8(PTEN):c.156T>C (p.Asp52=)
|
rs1589617385
|
|
NM_000314.8(PTEN):c.156T>G (p.Asp52Glu)
|
|
|
NM_000314.8(PTEN):c.156_164+4delinsCAT
|
|
|
NM_000314.8(PTEN):c.157G>A (p.Val53Ile)
|
|
|
NM_000314.8(PTEN):c.157del (p.Asp52_Val53insTer)
|
|
|
NM_000314.8(PTEN):c.158_159delinsAT (p.Val53Asp)
|
rs2132187834
|
|
NM_000314.8(PTEN):c.158_162dup (p.Arg55Ter)
|
rs2132187838
|
|
NM_000314.8(PTEN):c.15C>T (p.Ile5=)
|
|
|
NM_000314.8(PTEN):c.160G>A (p.Val54Ile)
|
rs786204916
|
|
NM_000314.8(PTEN):c.162A>G (p.Val54=)
|
|
|
NM_000314.8(PTEN):c.163A>G (p.Arg55Gly)
|
|
|
NM_000314.8(PTEN):c.164+10C>G
|
rs1859100909
|
|
NM_000314.8(PTEN):c.164+10C>T
|
rs1859100909
|
|
NM_000314.8(PTEN):c.164+19dup
|
rs771776683
|
|
NM_000314.8(PTEN):c.164+1G>A
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>C
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>T
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1_164+5del
|
rs1859100502
|
|
NM_000314.8(PTEN):c.164+20C>G
|
rs2132187978
|
|
NM_000314.8(PTEN):c.164+2T>G
|
rs1337554479
|
|
NM_000314.8(PTEN):c.164+4A>G
|
rs1554893837
|
|
NM_000314.8(PTEN):c.164+5G>A
|
|
|
NM_000314.8(PTEN):c.164+9G>T
|
|
|
NM_000314.8(PTEN):c.164G>A (p.Arg55Lys)
|
|
|
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.165-17_165del
|
rs1554897240
|
|
NM_000314.8(PTEN):c.165-20T>C
|
rs1859801133
|
|
NM_000314.8(PTEN):c.165-2A>C
|
|
|
NM_000314.8(PTEN):c.165-2A>G
|
rs1085308043
|
|
NM_000314.8(PTEN):c.165-3A>G
|
rs2132232082
|
|
NM_000314.8(PTEN):c.165-4T>G
|
rs1554897247
|
|
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.165-9T>A
|
rs878853934
|
|
NM_000314.8(PTEN):c.165G>A (p.Arg55=)
|
rs1859801849
|
|
NM_000314.8(PTEN):c.166T>G (p.Phe56Val)
|
rs1589640376
|
|
NM_000314.8(PTEN):c.167T>A (p.Phe56Tyr)
|
|
|
NM_000314.8(PTEN):c.167T>G (p.Phe56Cys)
|
rs748031178
|
|
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)
|
rs1589596143
|
|
NM_000314.8(PTEN):c.170T>A (p.Leu57Ter)
|
rs786202398
|
|
NM_000314.8(PTEN):c.170del (p.Leu57fs)
|
|
|
NM_000314.8(PTEN):c.172G>A (p.Asp58Asn)
|
rs1554897255
|
|
NM_000314.8(PTEN):c.172G>T (p.Asp58Tyr)
|
rs1554897255
|
|
NM_000314.8(PTEN):c.174T>C (p.Asp58=)
|
rs769719835
|
|
NM_000314.8(PTEN):c.174T>G (p.Asp58Glu)
|
|
|
NM_000314.8(PTEN):c.175T>C (p.Ser59Pro)
|
rs1060500118
|
|
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.176del (p.Asp58_Ser59insTer)
|
rs1859802811
|
|
NM_000314.8(PTEN):c.177A>G (p.Ser59=)
|
rs878853935
|
|
NM_000314.8(PTEN):c.17_18del (p.Lys6fs)
|
rs121913290
|
|
NM_000314.8(PTEN):c.17_20dup (p.Ile8fs)
|
rs2132145483
|
|
NM_000314.8(PTEN):c.180G>A (p.Lys60=)
|
rs972166984
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.183T>G (p.His61Gln)
|
|
|
NM_000314.8(PTEN):c.184A>G (p.Lys62Glu)
|
rs1564826779
|
|
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter)
|
rs1564826779
|
|
NM_000314.8(PTEN):c.186A>C (p.Lys62Asn)
|
rs1564826791
|
|
NM_000314.8(PTEN):c.188A>G (p.Asn63Ser)
|
rs2132232249
|
|
NM_000314.8(PTEN):c.188del (p.Asn63fs)
|
rs1554897267
|
|
NM_000314.8(PTEN):c.188dup (p.Asn63fs)
|
|
|
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.190C>A (p.His64Asn)
|
rs587781535
|
|
NM_000314.8(PTEN):c.190C>T (p.His64Tyr)
|
rs587781535
|
|
NM_000314.8(PTEN):c.191A>G (p.His64Arg)
|
rs1589640471
|
|
NM_000314.8(PTEN):c.194A>G (p.Tyr65Cys)
|
rs1859804047
|
|
NM_000314.8(PTEN):c.194del (p.Tyr65fs)
|
rs1859804141
|
|
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter)
|
rs878853936
|
|
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)
|
rs878853936
|
|
NM_000314.8(PTEN):c.195C>T (p.Tyr65=)
|
rs878853936
|
|
NM_000314.8(PTEN):c.197_199dup (p.Lys66_Ile67insLys)
|
|
|
NM_000314.8(PTEN):c.197dup (p.Ile67fs)
|
|
|
NM_000314.8(PTEN):c.199A>G (p.Ile67Val)
|
|
|
NM_000314.8(PTEN):c.199A>T (p.Ile67Leu)
|
|
|
NM_000314.8(PTEN):c.1A>G (p.Met1Val)
|
rs1554890324
|
|
NM_000314.8(PTEN):c.200T>A (p.Ile67Lys)
|
rs1859804665
|
|
NM_000314.8(PTEN):c.200T>C (p.Ile67Thr)
|
rs1859804665
|
|
NM_000314.8(PTEN):c.200dup (p.Tyr68fs)
|
rs1060500113
|
|
NM_000314.8(PTEN):c.201A>G (p.Ile67Met)
|
|
|
NM_000314.8(PTEN):c.201A>T (p.Ile67=)
|
rs2132232357
|
|
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.202T>G (p.Tyr68Asp)
|
rs398123317
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser)
|
rs786204922
|
|
NM_000314.8(PTEN):c.206A>T (p.Asn69Ile)
|
|
|
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+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+1G>C
|
|
|
NM_000314.8(PTEN):c.209+1G>T
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+1_209+2del
|
rs1564826836
|
|
NM_000314.8(PTEN):c.209+2T>A
|
rs878853937
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
NM_000314.8(PTEN):c.209+3A>G
|
rs786202612
|
|
NM_000314.8(PTEN):c.209+3_209+4dup
|
rs1859806067
|
|
NM_000314.8(PTEN):c.209+4A>G
|
rs2132232446
|
|
NM_000314.8(PTEN):c.209+4_209+7del
|
rs398123318
|
|
NM_000314.8(PTEN):c.209+5G>A
|
rs1114167650
|
|
NM_000314.8(PTEN):c.209+5G>C
|
rs1114167650
|
|
NM_000314.8(PTEN):c.209+6T>A
|
|
|
NM_000314.8(PTEN):c.209+6T>C
|
rs1554897282
|
|
NM_000314.8(PTEN):c.209+6T>G
|
rs1554897282
|
|
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.210-14A>G
|
|
|
NM_000314.8(PTEN):c.210-16del
|
rs1859918519
|
|
NM_000314.8(PTEN):c.210-17T>A
|
rs750987148
|
|
NM_000314.8(PTEN):c.210-1G>A
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>G
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>T
|
|
|
NM_000314.8(PTEN):c.210-3dup
|
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.210-6_210-2del
|
rs1564828909
|
|
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.210-7_220del
|
|
|
NM_000314.8(PTEN):c.210-8T>C
|
rs2132238637
|
|
NM_000314.8(PTEN):c.210-8T>G
|
|
|
NM_000314.8(PTEN):c.210-8del
|
rs1554897849
|
|
NM_000314.8(PTEN):c.210-8dup
|
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.213T>G (p.Cys71Trp)
|
rs1554897858
|
|
NM_000314.8(PTEN):c.214G>A (p.Ala72Thr)
|
|
|
NM_000314.8(PTEN):c.215C>G (p.Ala72Gly)
|
|
|
NM_000314.8(PTEN):c.216T>C (p.Ala72=)
|
rs1057520862
|
|
NM_000314.8(PTEN):c.21G>C (p.Glu7Asp)
|
rs1554890337
|
|
NM_000314.8(PTEN):c.21_22del (p.Glu7fs)
|
rs786204881
|
|
NM_000314.8(PTEN):c.220A>G (p.Arg74Gly)
|
|
|
NM_000314.8(PTEN):c.222A>G (p.Arg74=)
|
rs781542973
|
|
NM_000314.8(PTEN):c.224A>G (p.His75Arg)
|
|
|
NM_000314.8(PTEN):c.224_225del (p.His75fs)
|
rs1859920352
|
|
NM_000314.8(PTEN):c.224_233del (p.His75fs)
|
rs2132238787
|
|
NM_000314.8(PTEN):c.226T>C (p.Tyr76His)
|
rs2132238814
|
|
NM_000314.8(PTEN):c.226_228del (p.Tyr76del)
|
rs1554897864
|
|
NM_000314.8(PTEN):c.227A>G (p.Tyr76Cys)
|
rs2132238825
|
|
NM_000314.8(PTEN):c.228T>C (p.Tyr76=)
|
rs1554897866
|
|
NM_000314.8(PTEN):c.228dup (p.Asp77Ter)
|
rs1589644721
|
|
NM_000314.8(PTEN):c.231C>T (p.Asp77=)
|
rs755953294
|
|
NM_000314.8(PTEN):c.232_233del (p.Thr78fs)
|
|
|
NM_000314.8(PTEN):c.232del (p.Thr78fs)
|
|
|
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.235G>T (p.Ala79Ser)
|
rs202004587
|
|
NM_000314.8(PTEN):c.235_236del (p.Ala79fs)
|
rs1859921286
|
|
NM_000314.8(PTEN):c.237C>G (p.Ala79=)
|
|
|
NM_000314.8(PTEN):c.237C>T (p.Ala79=)
|
|
|
NM_000314.8(PTEN):c.239A>C (p.Lys80Thr)
|
rs1859921641
|
|
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.249C>A (p.Cys83Ter)
|
rs1554897879
|
|
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter)
|
rs1554897880
|
|
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+1G>A
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1G>T
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1dup
|
rs876660082
|
|
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+2T>A
|
rs1224040268
|
|
NM_000314.8(PTEN):c.253+4_253+7del
|
rs876659695
|
|
NM_000314.8(PTEN):c.253+5G>A
|
rs1554897889
|
|
NM_000314.8(PTEN):c.253+5G>C
|
rs1554897889
|
|
NM_000314.8(PTEN):c.253+5G>T
|
rs1554897889
|
|
NM_000314.8(PTEN):c.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.254-14T>C
|
|
|
NM_000314.8(PTEN):c.254-15A>G
|
|
|
NM_000314.8(PTEN):c.254-18G>T
|
|
|
NM_000314.8(PTEN):c.254-1G>A
|
rs1057520208
|
|
NM_000314.8(PTEN):c.254-1del
|
rs2132241961
|
|
NM_000314.8(PTEN):c.254-20A>C
|
|
|
NM_000314.8(PTEN):c.254-3_254-2del
|
rs1064794169
|
|
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.254-8dup
|
rs767806773
|
|
NM_000314.8(PTEN):c.254-9_254-8del
|
|
|
NM_000314.8(PTEN):c.255T>C (p.Val85=)
|
rs1589645952
|
|
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)
|
rs1554898053
|
|
NM_000314.8(PTEN):c.260_261dup (p.Tyr88fs)
|
rs1114167637
|
|
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs)
|
rs1859964600
|
|
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter)
|
rs1554898056
|
|
NM_000314.8(PTEN):c.264T>C (p.Tyr88=)
|
rs1554898056
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.271G>C (p.Glu91Gln)
|
|
|
NM_000314.8(PTEN):c.272A>G (p.Glu91Gly)
|
|
|
NM_000314.8(PTEN):c.273A>C (p.Glu91Asp)
|
rs1589646019
|
|
NM_000314.8(PTEN):c.273A>G (p.Glu91=)
|
rs1589646019
|
|
NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr)
|
rs1554898067
|
|
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)
|
rs779530981
|
|
NM_000314.8(PTEN):c.277C>G (p.His93Asp)
|
rs786204927
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer)
|
rs1554898071
|
|
NM_000314.8(PTEN):c.278A>C (p.His93Pro)
|
rs121909238
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.278A>T (p.His93Leu)
|
rs121909238
|
|
NM_000314.8(PTEN):c.279T>C (p.His93=)
|
rs145695240
|
|
NM_000314.8(PTEN):c.280A>T (p.Asn94Tyr)
|
|
|
NM_000314.8(PTEN):c.281del (p.Asn94fs)
|
|
|
NM_000314.8(PTEN):c.282C>T (p.Asn94=)
|
rs1589646058
|
|
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr)
|
rs1114167630
|
|
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
|
|
|
NM_000314.8(PTEN):c.283C>T (p.Pro95Ser)
|
rs1114167630
|
|
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu)
|
rs786204856
|
|
NM_000314.8(PTEN):c.286C>A (p.Pro96Thr)
|
|
|
NM_000314.8(PTEN):c.286C>G (p.Pro96Ala)
|
rs398123320
|
|
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.289C>G (p.Gln97Glu)
|
rs786204928
|
|
NM_000314.8(PTEN):c.291G>A (p.Gln97=)
|
rs1564829889
|
|
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg)
|
rs781647403
|
|
NM_000314.8(PTEN):c.295G>C (p.Glu99Gln)
|
rs2132242309
|
|
NM_000314.8(PTEN):c.299T>C (p.Leu100Pro)
|
rs1589646108
|
|
NM_000314.8(PTEN):c.301A>C (p.Ile101Leu)
|
|
|
NM_000314.8(PTEN):c.301del (p.Ile101fs)
|
rs2132242363
|
|
NM_000314.8(PTEN):c.301dup (p.Ile101fs)
|
rs1554898084
|
|
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.303C>T (p.Ile101=)
|
rs1859968521
|
|
NM_000314.8(PTEN):c.304A>C (p.Lys102Gln)
|
rs786202944
|
|
NM_000314.8(PTEN):c.304A>G (p.Lys102Glu)
|
rs786202944
|
|
NM_000314.8(PTEN):c.304A>T (p.Lys102Ter)
|
rs786202944
|
|
NM_000314.8(PTEN):c.304_307dup (p.Pro103fs)
|
rs2132242380
|
|
NM_000314.8(PTEN):c.307C>T (p.Pro103Ser)
|
|
|
NM_000314.8(PTEN):c.308C>G (p.Pro103Arg)
|
rs1060500111
|
|
NM_000314.8(PTEN):c.309C>G (p.Pro103=)
|
rs2132242458
|
|
NM_000314.8(PTEN):c.30C>T (p.Ser10=)
|
|
|
NM_000314.8(PTEN):c.30_32del (p.Ser10del)
|
rs1114167649
|
|
NM_000314.8(PTEN):c.311T>C (p.Phe104Ser)
|
|
|
NM_000314.8(PTEN):c.313del (p.Cys105fs)
|
rs1859969176
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.315dup (p.Glu106Ter)
|
rs1554898091
|
|
NM_000314.8(PTEN):c.318A>T (p.Glu106Asp)
|
rs1859969915
|
|
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)
|
rs57374291
|
|
NM_000314.8(PTEN):c.319del (p.Asp107fs)
|
|
|
NM_000314.8(PTEN):c.31A>C (p.Arg11=)
|
rs1858395868
|
|
NM_000314.8(PTEN):c.31A>G (p.Arg11Gly)
|
rs1858395868
|
|
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.323T>G (p.Leu108Arg)
|
|
|
NM_000314.8(PTEN):c.327C>T (p.Asp109=)
|
|
|
NM_000314.8(PTEN):c.328C>G (p.Gln110Glu)
|
rs1114167629
|
|
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)
|
rs1114167629
|
|
NM_000314.8(PTEN):c.329A>G (p.Gln110Arg)
|
rs1564830013
|
|
NM_000314.8(PTEN):c.32G>A (p.Arg11Lys)
|
|
|
NM_000314.8(PTEN):c.330A>G (p.Gln110=)
|
rs786201929
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
NM_000314.8(PTEN):c.331T>G (p.Trp111Gly)
|
rs398123321
|
|
NM_000314.8(PTEN):c.332_333insT (p.Trp111fs)
|
rs1589646225
|
|
NM_000314.8(PTEN):c.333G>C (p.Trp111Cys)
|
rs1554898097
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
|
|
|
NM_000314.8(PTEN):c.338_391del (p.Ser113_Arg130del)
|
|
|
NM_000314.8(PTEN):c.342A>G (p.Glu114=)
|
rs1589646244
|
|
NM_000314.8(PTEN):c.343G>A (p.Asp115Asn)
|
|
|
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)
|
rs869312775
|
|
NM_000314.8(PTEN):c.345T>A (p.Asp115Glu)
|
rs2132242798
|
|
NM_000314.8(PTEN):c.346_358dup (p.Ala120fs)
|
rs1064792910
|
|
NM_000314.8(PTEN):c.347_351del (p.Asp116fs)
|
rs587776666
|
|
NM_000314.8(PTEN):c.348C>A (p.Asp116Glu)
|
rs1114167651
|
|
NM_000314.8(PTEN):c.348C>T (p.Asp116=)
|
rs1114167651
|
|
NM_000314.8(PTEN):c.348_349dup (p.Asn117fs)
|
|
|
NM_000314.8(PTEN):c.34A>C (p.Asn12His)
|
rs1554890340
|
|
NM_000314.8(PTEN):c.34A>G (p.Asn12Asp)
|
rs1554890340
|
|
NM_000314.8(PTEN):c.350_353del (p.Asn117fs)
|
rs1564830070
|
|
NM_000314.8(PTEN):c.351T>A (p.Asn117Lys)
|
|
|
NM_000314.8(PTEN):c.351T>C (p.Asn117=)
|
rs2132242870
|
|
NM_000314.8(PTEN):c.352C>T (p.His118Tyr)
|
rs1564830084
|
|
NM_000314.8(PTEN):c.353A>G (p.His118Arg)
|
rs1554898107
|
|
NM_000314.8(PTEN):c.354T>C (p.His118=)
|
rs1564830090
|
|
NM_000314.8(PTEN):c.355G>T (p.Val119Phe)
|
rs139767111
|
|
NM_000314.8(PTEN):c.357T>G (p.Val119=)
|
rs1554898115
|
|
NM_000314.8(PTEN):c.358dup (p.Ala120fs)
|
rs1859973156
|
|
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu)
|
rs1114167647
|
|
NM_000314.8(PTEN):c.359C>G (p.Ala120Gly)
|
rs1114167647
|
|
NM_000314.8(PTEN):c.359C>T (p.Ala120Val)
|
rs1114167647
|
|
NM_000314.8(PTEN):c.359dup (p.Ala121fs)
|
rs1589646309
|
|
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser)
|
rs1085308044
|
|
NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)
|
rs1085308044
|
|
NM_000314.8(PTEN):c.360A>G (p.Ala120=)
|
rs759485888
|
|
NM_000314.8(PTEN):c.362C>T (p.Ala121Val)
|
rs121909237
|
|
NM_000314.8(PTEN):c.364A>G (p.Ile122Val)
|
rs786202740
|
|
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.369C>T (p.His123=)
|
rs1085308045
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)
|
|
|
NM_000314.8(PTEN):c.370del (p.Cys124fs)
|
rs1554898123
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
|
rs1554898127
|
|
NM_000314.8(PTEN):c.375A>C (p.Lys125Asn)
|
rs2132243099
|
|
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.377C>G (p.Ala126Gly)
|
rs1114167656
|
|
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)
|
rs1114167656
|
|
NM_000314.8(PTEN):c.37A>C (p.Lys13Gln)
|
rs1554890348
|
|
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)
|
rs1554890348
|
|
NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)
|
rs1554890348
|
|
NM_000314.8(PTEN):c.380G>C (p.Gly127Ala)
|
|
|
NM_000314.8(PTEN):c.380G>T (p.Gly127Val)
|
rs398123322
|
|
NM_000314.8(PTEN):c.381A>C (p.Gly127=)
|
rs1357327961
|
|
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu)
|
rs1554898138
|
|
NM_000314.8(PTEN):c.383A>G (p.Lys128Arg)
|
rs1859975512
|
|
NM_000314.8(PTEN):c.384G>A (p.Lys128=)
|
rs1114167645
|
|
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn)
|
rs1114167645
|
|
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.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.387A>G (p.Gly129=)
|
rs2132243217
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389del (p.Arg130fs)
|
rs121913292
|
|
NM_000314.8(PTEN):c.38_51del (p.Lys13fs)
|
rs2132145679
|
|
NM_000314.8(PTEN):c.390A>T (p.Arg130=)
|
rs963598711
|
|
NM_000314.8(PTEN):c.391A>G (p.Thr131Ala)
|
|
|
NM_000314.8(PTEN):c.392C>A (p.Thr131Asn)
|
|
|
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.396T>C (p.Gly132=)
|
rs1564830257
|
|
NM_000314.8(PTEN):c.397G>A (p.Val133Ile)
|
rs1859977307
|
|
NM_000314.8(PTEN):c.397G>T (p.Val133Leu)
|
|
|
NM_000314.8(PTEN):c.397delinsTA (p.Val133fs)
|
rs1859977388
|
|
NM_000314.8(PTEN):c.399_403del (p.Ile135fs)
|
rs1554898150
|
|
NM_000314.8(PTEN):c.39A>G (p.Lys13=)
|
rs2132145687
|
|
NM_000314.8(PTEN):c.39_40dup (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.39_41del (p.Arg15del)
|
rs1114167625
|
|
NM_000314.8(PTEN):c.39_51del (p.Arg15fs)
|
rs2132145655
|
|
NM_000314.8(PTEN):c.3G>A (p.Met1Ile)
|
rs2132145343
|
|
NM_000314.8(PTEN):c.400A>G (p.Met134Val)
|
|
|
NM_000314.8(PTEN):c.401T>A (p.Met134Lys)
|
rs1085308046
|
|
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)
|
rs1085308046
|
|
NM_000314.8(PTEN):c.402G>A (p.Met134Ile)
|
|
|
NM_000314.8(PTEN):c.402G>C (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)
|
rs587782360
|
|
NM_000314.8(PTEN):c.404T>C (p.Ile135Thr)
|
rs370795352
|
|
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
|
|
|
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
|
|
|
NM_000314.8(PTEN):c.405del (p.Cys136fs)
|
|
|
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>C (p.Cys136=)
|
rs869312776
|
|
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp)
|
rs869312776
|
|
NM_000314.8(PTEN):c.409G>C (p.Ala137Pro)
|
rs1859978482
|
|
NM_000314.8(PTEN):c.409_411delinsTTT (p.Ala137Phe)
|
rs878853938
|
|
NM_000314.8(PTEN):c.40A>T (p.Arg14Trp)
|
|
|
NM_000314.8(PTEN):c.412T>C (p.Tyr138His)
|
rs1859978750
|
|
NM_000314.8(PTEN):c.413A>G (p.Tyr138Cys)
|
rs1554898159
|
|
NM_000314.8(PTEN):c.414T>C (p.Tyr138=)
|
|
|
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter)
|
rs1554898161
|
|
NM_000314.8(PTEN):c.415T>A (p.Leu139Ile)
|
|
|
NM_000314.8(PTEN):c.415TTA[1] (p.Leu140del)
|
rs1859979147
|
|
NM_000314.8(PTEN):c.416del (p.Leu139fs)
|
rs1554898163
|
|
NM_000314.8(PTEN):c.417A>G (p.Leu139=)
|
rs1057520407
|
|
NM_000314.8(PTEN):c.417A>T (p.Leu139Phe)
|
|
|
NM_000314.8(PTEN):c.418T>A (p.Leu140Ile)
|
|
|
NM_000314.8(PTEN):c.41G>C (p.Arg14Thr)
|
rs1589596246
|
|
NM_000314.8(PTEN):c.420A>G (p.Leu140=)
|
rs2132243531
|
|
NM_000314.8(PTEN):c.420dup (p.His141fs)
|
rs1085308050
|
|
NM_000314.8(PTEN):c.421C>G (p.His141Asp)
|
rs1060500129
|
|
NM_000314.8(PTEN):c.421C>T (p.His141Tyr)
|
rs1060500129
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
NM_000314.8(PTEN):c.422A>G (p.His141Arg)
|
rs863224666
|
|
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
|
|
|
NM_000314.8(PTEN):c.423T>C (p.His141=)
|
rs1459569607
|
|
NM_000314.8(PTEN):c.424C>A (p.Arg142=)
|
rs746152219
|
|
NM_000314.8(PTEN):c.424C>G (p.Arg142Gly)
|
|
|
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)
|
rs746152219
|
|
NM_000314.8(PTEN):c.424del (p.Arg142fs)
|
rs869312779
|
|
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.428G>A (p.Gly143Asp)
|
rs786202047
|
|
NM_000314.8(PTEN):c.428del (p.Gly143fs)
|
rs2132243612
|
|
NM_000314.8(PTEN):c.428dup (p.Lys144fs)
|
rs2132243612
|
|
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.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
NM_000314.8(PTEN):c.432A>G (p.Lys144=)
|
rs2132243670
|
|
NM_000314.8(PTEN):c.432del (p.Lys144fs)
|
rs1114167657
|
|
NM_000314.8(PTEN):c.433T>C (p.Phe145Leu)
|
rs2132243676
|
|
NM_000314.8(PTEN):c.436T>G (p.Leu146Val)
|
|
|
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
|
|
|
NM_000314.8(PTEN):c.437T>G (p.Leu146Ter)
|
rs786204933
|
|
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2132243547
|
|
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
|
|
|
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)
|
rs2132145750
|
|
NM_000314.8(PTEN):c.440del (p.Lys147fs)
|
rs2132243722
|
|
NM_000314.8(PTEN):c.442G>A (p.Ala148Thr)
|
rs876660321
|
|
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.445C>T (p.Gln149Ter)
|
rs1060500122
|
|
NM_000314.8(PTEN):c.447A>G (p.Gln149=)
|
rs750401982
|
|
NM_000314.8(PTEN):c.447del (p.Glu150fs)
|
rs1554898188
|
|
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)
|
rs786204934
|
|
NM_000314.8(PTEN):c.448_461del (p.Glu150fs)
|
|
|
NM_000314.8(PTEN):c.449A>G (p.Glu150Gly)
|
rs1554898193
|
|
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)
|
rs398123324
|
|
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr)
|
rs398123324
|
|
NM_000314.8(PTEN):c.44_56del (p.Arg15fs)
|
|
|
NM_000314.8(PTEN):c.450G>A (p.Glu150=)
|
rs757777398
|
|
NM_000314.8(PTEN):c.452C>A (p.Ala151Asp)
|
|
|
NM_000314.8(PTEN):c.452C>T (p.Ala151Val)
|
|
|
NM_000314.8(PTEN):c.453C>T (p.Ala151=)
|
rs2132243850
|
|
NM_000314.8(PTEN):c.454C>G (p.Leu152Val)
|
|
|
NM_000314.8(PTEN):c.454C>T (p.Leu152=)
|
rs1064795450
|
|
NM_000314.8(PTEN):c.455T>C (p.Leu152Pro)
|
rs1554898197
|
|
NM_000314.8(PTEN):c.455T>G (p.Leu152Arg)
|
|
|
NM_000314.8(PTEN):c.456A>C (p.Leu152=)
|
rs779626613
|
|
NM_000314.8(PTEN):c.457G>A (p.Asp153Asn)
|
rs9651492
|
|
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.45A>G (p.Arg15=)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.460T>A (p.Phe154Ile)
|
|
|
NM_000314.8(PTEN):c.462C>A (p.Phe154Leu)
|
|
|
NM_000314.8(PTEN):c.462C>G (p.Phe154Leu)
|
rs1859982800
|
|
NM_000314.8(PTEN):c.463del (p.Tyr155fs)
|
rs2132243942
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.465T>A (p.Tyr155Ter)
|
rs1554898206
|
|
NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter)
|
rs1554898206
|
|
NM_000314.8(PTEN):c.466G>A (p.Gly156Arg)
|
rs1554898209
|
|
NM_000314.8(PTEN):c.466G>C (p.Gly156Arg)
|
|
|
NM_000314.8(PTEN):c.466_467delinsAA (p.Gly156Lys)
|
|
|
NM_000314.8(PTEN):c.468G>A (p.Gly156=)
|
|
|
NM_000314.8(PTEN):c.468_469dup (p.Glu157fs)
|
|
|
NM_000314.8(PTEN):c.469del (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.469dup (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.46T>A (p.Tyr16Asn)
|
rs1064796078
|
|
NM_000314.8(PTEN):c.470A>C (p.Glu157Ala)
|
rs1085308051
|
|
NM_000314.8(PTEN):c.471A>G (p.Glu157=)
|
rs1554898216
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys)
|
rs1114167673
|
|
NM_000314.8(PTEN):c.476G>C (p.Arg159Thr)
|
|
|
NM_000314.8(PTEN):c.477G>C (p.Arg159Ser)
|
rs1057519724
|
|
NM_000314.8(PTEN):c.478A>C (p.Thr160Pro)
|
rs1060500128
|
|
NM_000314.8(PTEN):c.47A>C (p.Tyr16Ser)
|
|
|
NM_000314.8(PTEN):c.47A>G (p.Tyr16Cys)
|
|
|
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
|
|
|
NM_000314.8(PTEN):c.481del (p.Arg161fs)
|
|
|
NM_000314.8(PTEN):c.483A>G (p.Arg161=)
|
rs2132244098
|
|
NM_000314.8(PTEN):c.485A>T (p.Asp162Val)
|
|
|
NM_000314.8(PTEN):c.485_487delinsCC (p.Asp162fs)
|
rs1554898231
|
|
NM_000314.8(PTEN):c.486_487del (p.Asp162fs)
|
rs1554898231
|
|
NM_000314.8(PTEN):c.487A>C (p.Lys163Gln)
|
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>G (p.Lys164Glu)
|
|
|
NM_000314.8(PTEN):c.490_491del (p.Lys164fs)
|
rs786204900
|
|
NM_000314.8(PTEN):c.491del (p.Lys164fs)
|
rs786204900
|
|
NM_000314.8(PTEN):c.491dup (p.Val166fs)
|
|
|
NM_000314.8(PTEN):c.492+14T>A
|
rs1057523132
|
|
NM_000314.8(PTEN):c.492+14T>C
|
rs1057523132
|
|
NM_000314.8(PTEN):c.492+14del
|
|
|
NM_000314.8(PTEN):c.492+14dup
|
rs1064793690
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>C
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1_492+5del
|
rs1554898238
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
NM_000314.8(PTEN):c.492+2T>G
|
rs1554898244
|
|
NM_000314.8(PTEN):c.492+2del
|
rs1060500124
|
|
NM_000314.8(PTEN):c.492+2dup
|
rs1554898245
|
|
NM_000314.8(PTEN):c.492+3A>G
|
rs1564830529
|
|
NM_000314.8(PTEN):c.492+5G>T
|
rs1183929343
|
|
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.493-12del
|
|
|
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.493-1G>A
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-2A>C
|
rs587781784
|
|
NM_000314.8(PTEN):c.493-2A>G
|
rs587781784
|
|
NM_000314.8(PTEN):c.493-4C>T
|
rs1057522555
|
|
NM_000314.8(PTEN):c.493-6C>G
|
rs1554900496
|
|
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.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.496G>C (p.Val166Leu)
|
rs780943695
|
|
NM_000314.8(PTEN):c.496G>T (p.Val166Leu)
|
rs780943695
|
|
NM_000314.8(PTEN):c.496_498del (p.Val166del)
|
rs1860415077
|
|
NM_000314.8(PTEN):c.499dup (p.Thr167fs)
|
|
|
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)
|
rs786204910
|
|
NM_000314.8(PTEN):c.49_61dup (p.Phe21fs)
|
rs2132145816
|
|
NM_000314.8(PTEN):c.501T>C (p.Thr167=)
|
rs2132268947
|
|
NM_000314.8(PTEN):c.502A>G (p.Ile168Val)
|
rs1860415565
|
|
NM_000314.8(PTEN):c.502A>T (p.Ile168Phe)
|
|
|
NM_000314.8(PTEN):c.502_503del (p.Ile168fs)
|
rs2132268956
|
|
NM_000314.8(PTEN):c.503T>C (p.Ile168Thr)
|
rs1554900530
|
|
NM_000314.8(PTEN):c.504T>A (p.Ile168=)
|
rs1589659338
|
|
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg)
|
rs1554900534
|
|
NM_000314.8(PTEN):c.508A>G (p.Ser170Gly)
|
rs1554900534
|
|
NM_000314.8(PTEN):c.508A>T (p.Ser170Cys)
|
rs1554900534
|
|
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)
|
rs876660507
|
|
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile)
|
rs876660507
|
|
NM_000314.8(PTEN):c.50A>G (p.Gln17Arg)
|
rs1858398407
|
|
NM_000314.8(PTEN):c.50_51del (p.Gln17fs)
|
rs587781912
|
|
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg)
|
rs121909221
|
|
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu)
|
rs786204864
|
|
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)
|
rs786204864
|
|
NM_000314.8(PTEN):c.511dup (p.Gln171fs)
|
rs2132269032
|
|
NM_000314.8(PTEN):c.512A>C (p.Gln171Pro)
|
rs786204865
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.512del (p.Gln171fs)
|
|
|
NM_000314.8(PTEN):c.512dup (p.Arg172fs)
|
rs1114167632
|
|
NM_000314.8(PTEN):c.513G>A (p.Gln171=)
|
rs1554900546
|
|
NM_000314.8(PTEN):c.514_515del (p.Arg172fs)
|
rs1564837778
|
|
NM_000314.8(PTEN):c.515G>T (p.Arg172Met)
|
rs1589659399
|
|
NM_000314.8(PTEN):c.516G>A (p.Arg172=)
|
|
|
NM_000314.8(PTEN):c.517C>A (p.Arg173Ser)
|
rs121913293
|
|
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)
|
rs121913294
|
|
NM_000314.8(PTEN):c.519C>T (p.Arg173=)
|
|
|
NM_000314.8(PTEN):c.520dup (p.Tyr174fs)
|
rs1085308052
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.522T>C (p.Tyr174=)
|
rs786201867
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.523G>T (p.Val175Leu)
|
rs1860417734
|
|
NM_000314.8(PTEN):c.525G>C (p.Val175=)
|
rs1554900563
|
|
NM_000314.8(PTEN):c.525G>T (p.Val175=)
|
|
|
NM_000314.8(PTEN):c.525del (p.Tyr176fs)
|
rs1554900566
|
|
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del)
|
rs587780711
|
|
NM_000314.8(PTEN):c.528T>C (p.Tyr176=)
|
rs1057522285
|
|
NM_000314.8(PTEN):c.528_535del (p.Tyr176_Ser179delinsTer)
|
|
|
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys)
|
rs1564837839
|
|
NM_000314.8(PTEN):c.532T>C (p.Tyr178His)
|
|
|
NM_000314.8(PTEN):c.532T>G (p.Tyr178Asp)
|
rs1860418734
|
|
NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys)
|
rs786204866
|
|
NM_000314.8(PTEN):c.534T>C (p.Tyr178=)
|
rs104894184
|
|
NM_000314.8(PTEN):c.536G>A (p.Ser179Asn)
|
rs2132269260
|
|
NM_000314.8(PTEN):c.536_539dup (p.Tyr180Ter)
|
rs2132269250
|
|
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
|
|
|
NM_000314.8(PTEN):c.537_540delinsTTAAAGAATCATCTGGATTAGGGTTAAAACCCAGATTAGGGTTAAATCATCTGGATTAGGGTTAAT (p.Tyr180Ter)
|
|
|
NM_000314.8(PTEN):c.538T>C (p.Tyr180His)
|
rs746280047
|
|
NM_000314.8(PTEN):c.53del (p.Glu18fs)
|
rs878853940
|
|
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
|
|
|
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)
|
rs786202733
|
|
NM_000314.8(PTEN):c.540_541delinsGT (p.Tyr180_Leu181delinsTer)
|
rs1554900587
|
|
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)
|
rs1589659492
|
|
NM_000314.8(PTEN):c.543G>C (p.Leu181=)
|
rs1589659495
|
|
NM_000314.8(PTEN):c.545T>A (p.Leu182Ter)
|
rs794729664
|
|
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter)
|
rs794729664
|
|
NM_000314.8(PTEN):c.545dup (p.Leu182fs)
|
rs878853941
|
|
NM_000314.8(PTEN):c.546_547insCA (p.Lys183fs)
|
rs2132269329
|
|
NM_000314.8(PTEN):c.547_548del (p.Lys183fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer)
|
rs786204890
|
|
NM_000314.8(PTEN):c.548_551del (p.Lys183fs)
|
rs1564837868
|
|
NM_000314.8(PTEN):c.548dup (p.Asn184fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.549G>A (p.Lys183=)
|
|
|
NM_000314.8(PTEN):c.54G>A (p.Glu18=)
|
rs1554890388
|
|
NM_000314.8(PTEN):c.54G>T (p.Glu18Asp)
|
rs1554890388
|
|
NM_000314.8(PTEN):c.551A>G (p.Asn184Ser)
|
rs587781895
|
|
NM_000314.8(PTEN):c.551del (p.Asn184fs)
|
rs1554900606
|
|
NM_000314.8(PTEN):c.554A>G (p.His185Arg)
|
|
|
NM_000314.8(PTEN):c.555T>C (p.His185=)
|
rs757799618
|
|
NM_000314.8(PTEN):c.556C>G (p.Leu186Val)
|
rs1589659546
|
|
NM_000314.8(PTEN):c.556C>T (p.Leu186=)
|
rs1589659546
|
|
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn)
|
rs121909233
|
|
NM_000314.8(PTEN):c.560A>G (p.Asp187Gly)
|
rs786204943
|
|
NM_000314.8(PTEN):c.561_567del (p.Tyr188fs)
|
rs2132269476
|
|
NM_000314.8(PTEN):c.562T>G (p.Tyr188Asp)
|
rs1860421158
|
|
NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA (p.Tyr188fs)
|
rs2132269496
|
|
NM_000314.8(PTEN):c.563A>G (p.Tyr188Cys)
|
rs2132269501
|
|
NM_000314.8(PTEN):c.564T>C (p.Tyr188=)
|
rs606231170
|
|
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)
|
rs1554900615
|
|
NM_000314.8(PTEN):c.567A>G (p.Arg189=)
|
rs1589659570
|
|
NM_000314.8(PTEN):c.568C>A (p.Pro190Thr)
|
rs1860421606
|
|
NM_000314.8(PTEN):c.569C>G (p.Pro190Arg)
|
rs1554900617
|
|
NM_000314.8(PTEN):c.569C>T (p.Pro190Leu)
|
rs1554900617
|
|
NM_000314.8(PTEN):c.56A>G (p.Asp19Gly)
|
rs1554890392
|
|
NM_000314.8(PTEN):c.56A>T (p.Asp19Val)
|
|
|
NM_000314.8(PTEN):c.571G>T (p.Val191Leu)
|
rs1060500130
|
|
NM_000314.8(PTEN):c.571del (p.Val191fs)
|
|
|
NM_000314.8(PTEN):c.573G>A (p.Val191=)
|
rs374478092
|
|
NM_000314.8(PTEN):c.574G>T (p.Ala192Ser)
|
|
|
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.578T>C (p.Leu193Pro)
|
rs1554900620
|
|
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.57dup (p.Gly20fs)
|
|
|
NM_000314.8(PTEN):c.581T>A (p.Leu194Ter)
|
|
|
NM_000314.8(PTEN):c.583T>C (p.Phe195Leu)
|
rs1860422659
|
|
NM_000314.8(PTEN):c.585T>C (p.Phe195=)
|
rs1554900624
|
|
NM_000314.8(PTEN):c.585dup (p.His196fs)
|
rs786204901
|
|
NM_000314.8(PTEN):c.586C>G (p.His196Asp)
|
rs1589659615
|
|
NM_000314.8(PTEN):c.587A>C (p.His196Pro)
|
rs1564837944
|
|
NM_000314.8(PTEN):c.588C>T (p.His196=)
|
rs1860423218
|
|
NM_000314.8(PTEN):c.589A>G (p.Lys197Glu)
|
|
|
NM_000314.8(PTEN):c.590del (p.Lys197fs)
|
rs2132269684
|
|
NM_000314.8(PTEN):c.592A>G (p.Met198Val)
|
rs1554900633
|
|
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del)
|
rs1064793244
|
|
NM_000314.8(PTEN):c.593T>A (p.Met198Lys)
|
rs1554900635
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
NM_000314.8(PTEN):c.596T>A (p.Met199Lys)
|
rs587781538
|
|
NM_000314.8(PTEN):c.596T>C (p.Met199Thr)
|
rs587781538
|
|
NM_000314.8(PTEN):c.597G>A (p.Met199Ile)
|
rs1589659663
|
|
NM_000314.8(PTEN):c.597G>C (p.Met199Ile)
|
|
|
NM_000314.8(PTEN):c.597_599del (p.Met199_Phe200delinsIle)
|
rs1564837980
|
|
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
|
rs786204867
|
|
NM_000314.8(PTEN):c.59G>C (p.Gly20Ala)
|
rs1064795967
|
|
NM_000314.8(PTEN):c.59G>T (p.Gly20Val)
|
rs1064795967
|
|
NM_000314.8(PTEN):c.600del (p.Phe200fs)
|
|
|
NM_000314.8(PTEN):c.604A>G (p.Thr202Ala)
|
rs786204944
|
|
NM_000314.8(PTEN):c.604A>T (p.Thr202Ser)
|
rs786204944
|
|
NM_000314.8(PTEN):c.605C>G (p.Thr202Ser)
|
|
|
NM_000314.8(PTEN):c.607A>C (p.Ile203Leu)
|
|
|
NM_000314.8(PTEN):c.607A>G (p.Ile203Val)
|
rs1564837997
|
|
NM_000314.8(PTEN):c.607_608del (p.Ile203fs)
|
rs1085308054
|
|
NM_000314.8(PTEN):c.608T>G (p.Ile203Ser)
|
|
|
NM_000314.8(PTEN):c.60A>G (p.Gly20=)
|
|
|
NM_000314.8(PTEN):c.60dup (p.Phe21fs)
|
rs2132145926
|
|
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala)
|
rs786204868
|
|
NM_000314.8(PTEN):c.610C>T (p.Pro204Ser)
|
rs786204868
|
|
NM_000314.8(PTEN):c.611C>T (p.Pro204Leu)
|
rs2132269834
|
|
NM_000314.8(PTEN):c.612A>C (p.Pro204=)
|
rs539074063
|
|
NM_000314.8(PTEN):c.613A>T (p.Met205Leu)
|
rs776763121
|
|
NM_000314.8(PTEN):c.615G>A (p.Met205Ile)
|
rs1554900653
|
|
NM_000314.8(PTEN):c.615_633delinsCA (p.Met205fs)
|
rs1860425389
|
|
NM_000314.8(PTEN):c.616T>G (p.Phe206Val)
|
|
|
NM_000314.8(PTEN):c.620G>T (p.Ser207Ile)
|
|
|
NM_000314.8(PTEN):c.622G>A (p.Gly208Ser)
|
rs1860425648
|
|
NM_000314.8(PTEN):c.623G>A (p.Gly208Asp)
|
rs1860425741
|
|
NM_000314.8(PTEN):c.623del (p.Gly208fs)
|
rs2132269945
|
|
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)
|
rs765433422
|
|
NM_000314.8(PTEN):c.626dup (p.Thr210fs)
|
|
|
NM_000314.8(PTEN):c.628del (p.Thr210fs)
|
rs2132270005
|
|
NM_000314.8(PTEN):c.629C>T (p.Thr210Ile)
|
|
|
NM_000314.8(PTEN):c.629del (p.Thr210fs)
|
rs1060500114
|
|
NM_000314.8(PTEN):c.630T>A (p.Thr210=)
|
|
|
NM_000314.8(PTEN):c.631T>C (p.Cys211Arg)
|
rs1860426392
|
|
NM_000314.8(PTEN):c.632dup (p.Cys211fs)
|
rs1114167663
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000314.8(PTEN):c.633C>G (p.Cys211Trp)
|
rs121909232
|
|
NM_000314.8(PTEN):c.633C>T (p.Cys211=)
|
rs121909232
|
|
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+1G>C
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+1G>T
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+20A>G
|
rs2132270192
|
|
NM_000314.8(PTEN):c.634+2T>A
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+2T>G
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+3A>C
|
rs2132270104
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000314.8(PTEN):c.634+5G>C
|
rs138336847
|
|
NM_000314.8(PTEN):c.634+6T>G
|
rs2132270115
|
|
NM_000314.8(PTEN):c.634+7G>C
|
rs1860427142
|
|
NM_000314.8(PTEN):c.634+9T>C
|
rs1589659798
|
|
NM_000314.8(PTEN):c.634A>C (p.Asn212His)
|
rs1860426730
|
|
NM_000314.8(PTEN):c.635-10A>G
|
rs1430432370
|
|
NM_000314.8(PTEN):c.635-11T>G
|
rs2132276315
|
|
NM_000314.8(PTEN):c.635-12T>G
|
|
|
NM_000314.8(PTEN):c.635-17T>G
|
|
|
NM_000314.8(PTEN):c.635-18A>G
|
rs1057520441
|
|
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.635-20G>A
|
rs1317974446
|
|
NM_000314.8(PTEN):c.635-20G>T
|
|
|
NM_000314.8(PTEN):c.635-2A>C
|
rs1564566706
|
|
NM_000314.8(PTEN):c.635-2A>G
|
rs1564566706
|
|
NM_000314.8(PTEN):c.635-32_643del
|
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
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.635-9A>G
|
rs1057520628
|
|
NM_000314.8(PTEN):c.635A>G (p.Asn212Ser)
|
rs1554825156
|
|
NM_000314.8(PTEN):c.636T>C (p.Asn212=)
|
rs2132276380
|
|
NM_000314.8(PTEN):c.638C>T (p.Pro213Leu)
|
rs1156887945
|
|
NM_000314.8(PTEN):c.63C>A (p.Phe21Leu)
|
rs1858399493
|
|
NM_000314.8(PTEN):c.63C>T (p.Phe21=)
|
rs1858399493
|
|
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)
|
rs121909227
|
|
NM_000314.8(PTEN):c.641A>T (p.Gln214Leu)
|
rs1564566726
|
|
NM_000314.8(PTEN):c.641del (p.Gln214fs)
|
rs2132276430
|
|
NM_000314.8(PTEN):c.641dup (p.Phe215fs)
|
rs2132276426
|
|
NM_000314.8(PTEN):c.642G>A (p.Gln214=)
|
rs1589663143
|
|
NM_000314.8(PTEN):c.643T>G (p.Phe215Val)
|
rs1860539219
|
|
NM_000314.8(PTEN):c.644_650del (p.Phe215fs)
|
rs2132276439
|
|
NM_000314.8(PTEN):c.645T>G (p.Phe215Leu)
|
|
|
NM_000314.8(PTEN):c.645del (p.Phe215fs)
|
rs1589663146
|
|
NM_000314.8(PTEN):c.645dup (p.Val216fs)
|
rs1589663146
|
|
NM_000314.8(PTEN):c.646G>A (p.Val216Met)
|
rs1589663150
|
|
NM_000314.8(PTEN):c.649G>A (p.Val217Ile)
|
rs121909234
|
|
NM_000314.8(PTEN):c.64G>C (p.Asp22His)
|
rs876660420
|
|
NM_000314.8(PTEN):c.64G>T (p.Asp22Tyr)
|
rs876660420
|
|
NM_000314.8(PTEN):c.64dup (p.Asp22fs)
|
rs1858399718
|
|
NM_000314.8(PTEN):c.650T>G (p.Val217Gly)
|
rs1060500117
|
|
NM_000314.8(PTEN):c.652T>C (p.Cys218Arg)
|
|
|
NM_000314.8(PTEN):c.653G>A (p.Cys218Tyr)
|
rs1860540059
|
|
NM_000314.8(PTEN):c.653G>C (p.Cys218Ser)
|
rs1860540059
|
|
NM_000314.8(PTEN):c.653G>T (p.Cys218Phe)
|
|
|
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)
|
rs1554825165
|
|
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
|
|
|
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro)
|
rs1554825172
|
|
NM_000314.8(PTEN):c.658C>T (p.Leu220=)
|
|
|
NM_000314.8(PTEN):c.659_660dup (p.Lys221Ter)
|
rs2132276578
|
|
NM_000314.8(PTEN):c.659_665del (p.Leu220fs)
|
|
|
NM_000314.8(PTEN):c.660A>C (p.Leu220=)
|
rs1352585442
|
|
NM_000314.8(PTEN):c.664G>A (p.Val222Met)
|
rs878853943
|
|
NM_000314.8(PTEN):c.664G>T (p.Val222Leu)
|
rs878853943
|
|
NM_000314.8(PTEN):c.665T>C (p.Val222Ala)
|
rs2132276621
|
|
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter)
|
rs1085308049
|
|
NM_000314.8(PTEN):c.668A>G (p.Lys223Arg)
|
rs778528056
|
|
NM_000314.8(PTEN):c.66C>T (p.Asp22=)
|
rs786201335
|
|
NM_000314.8(PTEN):c.670A>T (p.Ile224Leu)
|
rs1554825177
|
|
NM_000314.8(PTEN):c.671T>A (p.Ile224Lys)
|
rs1589663235
|
|
NM_000314.8(PTEN):c.671T>C (p.Ile224Thr)
|
rs1589663235
|
|
NM_000314.8(PTEN):c.672A>G (p.Ile224Met)
|
rs786204946
|
|
NM_000314.8(PTEN):c.672_673insC (p.Tyr225fs)
|
rs2132276692
|
|
NM_000314.8(PTEN):c.672dup (p.Tyr225fs)
|
rs2132276683
|
|
NM_000314.8(PTEN):c.674_675dup (p.Ser226fs)
|
rs2132276661
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000314.8(PTEN):c.677C>T (p.Ser226Phe)
|
rs2132276728
|
|
NM_000314.8(PTEN):c.678C>G (p.Ser226=)
|
rs1589663262
|
|
NM_000314.8(PTEN):c.67T>G (p.Leu23Val)
|
rs876661244
|
|
NM_000314.8(PTEN):c.681C>T (p.Ser227=)
|
rs768662424
|
|
NM_000314.8(PTEN):c.683A>C (p.Asn228Thr)
|
|
|
NM_000314.8(PTEN):c.683A>G (p.Asn228Ser)
|
rs748240670
|
|
NM_000314.8(PTEN):c.684T>C (p.Asn228=)
|
rs2132276789
|
|
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr)
|
rs587781998
|
|
NM_000314.8(PTEN):c.685_686dup (p.Gly230fs)
|
rs1564566801
|
|
NM_000314.8(PTEN):c.685_688del (p.Ser229fs)
|
rs2132276818
|
|
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter)
|
rs1214965807
|
|
NM_000314.8(PTEN):c.687A>G (p.Ser229=)
|
rs1554825185
|
|
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
|
|
|
NM_000314.8(PTEN):c.688_689dup (p.Pro231fs)
|
rs2132276853
|
|
NM_000314.8(PTEN):c.68T>C (p.Leu23Ser)
|
|
|
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)
|
rs1589596407
|
|
NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer)
|
rs1554890400
|
|
NM_000314.8(PTEN):c.691C>A (p.Pro231Thr)
|
|
|
NM_000314.8(PTEN):c.692C>T (p.Pro231Leu)
|
rs1554825190
|
|
NM_000314.8(PTEN):c.693C>A (p.Pro231=)
|
|
|
NM_000314.8(PTEN):c.693del (p.Thr232fs)
|
rs1554825189
|
|
NM_000314.8(PTEN):c.694A>G (p.Thr232Ala)
|
|
|
NM_000314.8(PTEN):c.695C>A (p.Thr232Lys)
|
|
|
NM_000314.8(PTEN):c.697C>A (p.Arg233=)
|
rs121909219
|
|
NM_000314.8(PTEN):c.697C>G (p.Arg233Gly)
|
rs121909219
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
NM_000314.8(PTEN):c.699A>G (p.Arg233=)
|
rs1589663321
|
|
NM_000314.8(PTEN):c.69_71dup (p.Leu23_Asp24insGlu)
|
rs1589596417
|
|
NM_000314.8(PTEN):c.69dup (p.Asp24fs)
|
rs1589596415
|
|
NM_000314.8(PTEN):c.6A>C (p.Thr2=)
|
rs1168115184
|
|
NM_000314.8(PTEN):c.6A>G (p.Thr2=)
|
|
|
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)
|
rs786201730
|
|
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)
|
rs121909235
|
|
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs)
|
rs1131691831
|
|
NM_000314.8(PTEN):c.702_706del (p.Glu235fs)
|
|
|
NM_000314.8(PTEN):c.704A>C (p.Glu235Ala)
|
|
|
NM_000314.8(PTEN):c.706G>A (p.Asp236Asn)
|
rs1860544115
|
|
NM_000314.8(PTEN):c.706G>C (p.Asp236His)
|
rs1860544115
|
|
NM_000314.8(PTEN):c.706G>T (p.Asp236Tyr)
|
|
|
NM_000314.8(PTEN):c.707A>C (p.Asp236Ala)
|
|
|
NM_000314.8(PTEN):c.708C>T (p.Asp236=)
|
rs1183182915
|
|
NM_000314.8(PTEN):c.70G>C (p.Asp24His)
|
rs786201995
|
|
NM_000314.8(PTEN):c.711del (p.Lys237fs)
|
rs1860544511
|
|
NM_000314.8(PTEN):c.714C>T (p.Phe238=)
|
rs2132277083
|
|
NM_000314.8(PTEN):c.715A>G (p.Met239Val)
|
rs786201758
|
|
NM_000314.8(PTEN):c.716T>C (p.Met239Thr)
|
rs786204871
|
|
NM_000314.8(PTEN):c.716T>G (p.Met239Arg)
|
rs786204871
|
|
NM_000314.8(PTEN):c.717_721del (p.Met239fs)
|
|
|
NM_000314.8(PTEN):c.719A>G (p.Tyr240Cys)
|
|
|
NM_000314.8(PTEN):c.71A>C (p.Asp24Ala)
|
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.71A>T (p.Asp24Val)
|
rs797044910
|
|
NM_000314.8(PTEN):c.720C>G (p.Tyr240Ter)
|
rs190070312
|
|
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs)
|
rs1554825206
|
|
NM_000314.8(PTEN):c.721T>A (p.Phe241Ile)
|
rs1554825207
|
|
NM_000314.8(PTEN):c.721_730del (p.Phe241fs)
|
rs2132277143
|
|
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)
|
rs121909240
|
|
NM_000314.8(PTEN):c.722_723dup (p.Glu242fs)
|
rs1060500115
|
|
NM_000314.8(PTEN):c.722_723insGG (p.Phe241fs)
|
rs2132277178
|
|
NM_000314.8(PTEN):c.723_724dup (p.Glu242fs)
|
rs1554825209
|
|
NM_000314.8(PTEN):c.723dup (p.Glu242Ter)
|
rs1060500115
|
|
NM_000314.8(PTEN):c.725A>T (p.Glu242Val)
|
rs1860545768
|
|
NM_000314.8(PTEN):c.729C>T (p.Phe243=)
|
|
|
NM_000314.8(PTEN):c.729_740del (p.Phe243_Pro246del)
|
|
|
NM_000314.8(PTEN):c.72C>A (p.Asp24Glu)
|
|
|
NM_000314.8(PTEN):c.72C>G (p.Asp24Glu)
|
rs1320222638
|
|
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)
|
rs786202918
|
|
NM_000314.8(PTEN):c.736C>A (p.Pro246Thr)
|
rs1860546467
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.738_739dup (p.Leu247fs)
|
rs1589663442
|
|
NM_000314.8(PTEN):c.73T>G (p.Leu25Val)
|
rs398123326
|
|
NM_000314.8(PTEN):c.740T>A (p.Leu247Ter)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.740del (p.Leu247fs)
|
rs1114167662
|
|
NM_000314.8(PTEN):c.741A>G (p.Leu247=)
|
rs1554825217
|
|
NM_000314.8(PTEN):c.741_742insGGA (p.Leu247_Pro248insGly)
|
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.743C>T (p.Pro248Leu)
|
|
|
NM_000314.8(PTEN):c.744T>C (p.Pro248=)
|
rs1589663469
|
|
NM_000314.8(PTEN):c.745G>A (p.Val249Met)
|
rs2132277398
|
|
NM_000314.8(PTEN):c.746T>A (p.Val249Glu)
|
rs2132277407
|
|
NM_000314.8(PTEN):c.746T>G (p.Val249Gly)
|
rs2132277407
|
|
NM_000314.8(PTEN):c.747G>A (p.Val249=)
|
rs1060503840
|
|
NM_000314.8(PTEN):c.748_749insCCAC (p.Cys250fs)
|
|
|
NM_000314.8(PTEN):c.748dup (p.Cys250fs)
|
|
|
NM_000314.8(PTEN):c.74_79dup (p.Leu25_Thr26dup)
|
rs1858401009
|
|
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter)
|
rs767623493
|
|
NM_000314.8(PTEN):c.750_751del (p.Cys250fs)
|
rs780264945
|
|
NM_000314.8(PTEN):c.750_751insCAC (p.Cys250_Gly251insHis)
|
rs1860548195
|
|
NM_000314.8(PTEN):c.752G>C (p.Gly251Ala)
|
rs1554825226
|
|
NM_000314.8(PTEN):c.752G>T (p.Gly251Val)
|
rs1554825226
|
|
NM_000314.8(PTEN):c.752del (p.Gly251fs)
|
|
|
NM_000314.8(PTEN):c.753T>A (p.Gly251=)
|
rs1554825232
|
|
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.756T>C (p.Asp252=)
|
rs2132277479
|
|
NM_000314.8(PTEN):c.757_758dup (p.Lys254fs)
|
rs878853942
|
|
NM_000314.8(PTEN):c.758T>A (p.Ile253Asn)
|
rs1554825235
|
|
NM_000314.8(PTEN):c.758T>C (p.Ile253Thr)
|
rs1554825235
|
|
NM_000314.8(PTEN):c.758T>G (p.Ile253Ser)
|
rs1554825235
|
|
NM_000314.8(PTEN):c.758_761del (p.Ile253fs)
|
rs786204903
|
|
NM_000314.8(PTEN):c.758_780dup (p.Gln261delinsSerLysTer)
|
|
|
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.75G>C (p.Leu25Phe)
|
rs786201506
|
|
NM_000314.8(PTEN):c.761A>G (p.Lys254Arg)
|
rs1114167633
|
|
NM_000314.8(PTEN):c.765A>G (p.Val255=)
|
rs1589663555
|
|
NM_000314.8(PTEN):c.767A>G (p.Glu256Gly)
|
|
|
NM_000314.8(PTEN):c.76A>C (p.Thr26Pro)
|
rs876661010
|
|
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.779A>G (p.Lys260Arg)
|
rs1060500125
|
|
NM_000314.8(PTEN):c.77C>A (p.Thr26Asn)
|
rs786204853
|
|
NM_000314.8(PTEN):c.780A>G (p.Lys260=)
|
rs876658720
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
NM_000314.8(PTEN):c.783G>C (p.Gln261His)
|
|
|
NM_000314.8(PTEN):c.783G>T (p.Gln261His)
|
rs760146269
|
|
NM_000314.8(PTEN):c.783del (p.Asn262fs)
|
rs1860551073
|
|
NM_000314.8(PTEN):c.785dup (p.Asn262fs)
|
rs2132277715
|
|
NM_000314.8(PTEN):c.786C>A (p.Asn262Lys)
|
rs2132277734
|
|
NM_000314.8(PTEN):c.786C>T (p.Asn262=)
|
rs2132277734
|
|
NM_000314.8(PTEN):c.78C>A (p.Thr26=)
|
rs786201280
|
|
NM_000314.8(PTEN):c.78C>G (p.Thr26=)
|
rs786201280
|
|
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>A
|
|
|
NM_000314.8(PTEN):c.79+19G>C
|
|
|
NM_000314.8(PTEN):c.79+1G>A
|
|
|
NM_000314.8(PTEN):c.79+1G>C
|
rs2132146122
|
|
NM_000314.8(PTEN):c.79+23_79+25del
|
rs1221062997
|
|
NM_000314.8(PTEN):c.79+3A>C
|
|
|
NM_000314.8(PTEN):c.79+3A>G
|
rs771928902
|
|
NM_000314.8(PTEN):c.79+4T>C
|
rs1554890415
|
|
NM_000314.8(PTEN):c.79+5C>G
|
rs1564801891
|
|
NM_000314.8(PTEN):c.79+6C>T
|
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
NM_000314.8(PTEN):c.79+9T>A
|
rs2132146167
|
|
NM_000314.8(PTEN):c.793C>G (p.Leu265Val)
|
rs786204872
|
|
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro)
|
rs1335033900
|
|
NM_000314.8(PTEN):c.795A>C (p.Leu265=)
|
rs891648600
|
|
NM_000314.8(PTEN):c.796A>G (p.Lys266Glu)
|
|
|
NM_000314.8(PTEN):c.796A>T (p.Lys266Ter)
|
rs1554825260
|
|
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs)
|
rs1860552294
|
|
NM_000314.8(PTEN):c.79T>A (p.Tyr27Asn)
|
rs746128825
|
|
NM_000314.8(PTEN):c.7G>A (p.Ala3Thr)
|
rs1589596120
|
|
NM_000314.8(PTEN):c.80-10A>T
|
rs2132186986
|
|
NM_000314.8(PTEN):c.80-10_80-6del
|
rs1589617099
|
|
NM_000314.8(PTEN):c.80-14A>G
|
|
|
NM_000314.8(PTEN):c.80-14_92dup
|
|
|
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.80-18C>T
|
|
|
NM_000314.8(PTEN):c.80-19C>T
|
|
|
NM_000314.8(PTEN):c.80-1G>C
|
rs786204914
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.80-20T>C
|
|
|
NM_000314.8(PTEN):c.80-23_85del
|
rs1589617079
|
|
NM_000314.8(PTEN):c.80-2A>C
|
rs2132187034
|
|
NM_000314.8(PTEN):c.80-3C>G
|
rs1554893746
|
|
NM_000314.8(PTEN):c.80-3C>T
|
|
|
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.80-7T>G
|
rs1554893742
|
|
NM_000314.8(PTEN):c.80-8del
|
rs1060503844
|
|
NM_000314.8(PTEN):c.800A>C (p.Lys267Thr)
|
rs1554825264
|
|
NM_000314.8(PTEN):c.800A>G (p.Lys267Arg)
|
rs1554825264
|
|
NM_000314.8(PTEN):c.800del (p.Lys267fs)
|
rs121913289
|
|
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+1G>A
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1G>C
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1G>T
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+1del
|
rs1060500110
|
|
NM_000314.8(PTEN):c.801+20T>C
|
|
|
NM_000314.8(PTEN):c.801+20T>G
|
|
|
NM_000314.8(PTEN):c.801+2T>A
|
rs1114167665
|
|
NM_000314.8(PTEN):c.801+2T>C
|
rs1114167665
|
|
NM_000314.8(PTEN):c.801+4T>C
|
rs1860552857
|
|
NM_000314.8(PTEN):c.801+7A>G
|
rs1211730867
|
|
NM_000314.8(PTEN):c.801+7A>T
|
rs1211730867
|
|
NM_000314.8(PTEN):c.801+9T>C
|
rs1060503839
|
|
NM_000314.8(PTEN):c.801G>C (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.802-10T>C
|
rs1270511778
|
|
NM_000314.8(PTEN):c.802-11_802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-131_935del
|
rs1860608927
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
NM_000314.8(PTEN):c.802-1G>C
|
|
|
NM_000314.8(PTEN):c.802-1G>T
|
rs1257124719
|
|
NM_000314.8(PTEN):c.802-2A>G
|
rs587782455
|
|
NM_000314.8(PTEN):c.802-2del
|
rs886047397
|
|
NM_000314.8(PTEN):c.802-2dup
|
rs1554825500
|
|
NM_000314.8(PTEN):c.802-3T>A
|
rs587780712
|
|
NM_000314.8(PTEN):c.802-3_802-2insTA
|
rs1860615576
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3insG
|
|
|
NM_000314.8(PTEN):c.802-4_804delinsA
|
rs1064792911
|
|
NM_000314.8(PTEN):c.802-51_802-13del
|
rs1273383569
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
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.802-9_802-8insC
|
rs1860615257
|
|
NM_000314.8(PTEN):c.805A>G (p.Lys269Glu)
|
rs1860616265
|
|
NM_000314.8(PTEN):c.808A>C (p.Met270Leu)
|
rs1554825502
|
|
NM_000314.8(PTEN):c.808A>G (p.Met270Val)
|
rs1554825502
|
|
NM_000314.8(PTEN):c.808_809insACAA (p.Met270fs)
|
|
|
NM_000314.8(PTEN):c.809T>A (p.Met270Lys)
|
rs2132281749
|
|
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.810G>A (p.Met270Ile)
|
|
|
NM_000314.8(PTEN):c.812_833delinsCTTTTCTTTTTTTTTTTTTTTTAGGACAAAATGTTTCA (p.Phe271fs)
|
|
|
NM_000314.8(PTEN):c.816C>G (p.His272Gln)
|
|
|
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.820T>C (p.Trp274Arg)
|
rs1589665591
|
|
NM_000314.8(PTEN):c.820T>G (p.Trp274Gly)
|
|
|
NM_000314.8(PTEN):c.821G>A (p.Trp274Ter)
|
rs786204875
|
|
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)
|
rs587782607
|
|
NM_000314.8(PTEN):c.822_823del (p.Trp274fs)
|
|
|
NM_000314.8(PTEN):c.823_824del (p.Val275fs)
|
rs1589665610
|
|
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer)
|
rs1860617439
|
|
NM_000314.8(PTEN):c.826A>G (p.Asn276Asp)
|
rs1589665622
|
|
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile)
|
rs1860618095
|
|
NM_000314.8(PTEN):c.827del (p.Asn276fs)
|
rs886044679
|
|
NM_000314.8(PTEN):c.828T>A (p.Asn276Lys)
|
|
|
NM_000314.8(PTEN):c.828T>C (p.Asn276=)
|
rs1554825510
|
|
NM_000314.8(PTEN):c.829A>G (p.Thr277Ala)
|
rs1564568216
|
|
NM_000314.8(PTEN):c.829dup (p.Thr277fs)
|
rs1589665640
|
|
NM_000314.8(PTEN):c.82A>G (p.Ile28Val)
|
rs1859092645
|
|
NM_000314.8(PTEN):c.830C>A (p.Thr277Lys)
|
rs398123329
|
|
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.831A>G (p.Thr277=)
|
rs376886779
|
|
NM_000314.8(PTEN):c.833T>G (p.Phe278Cys)
|
rs2132281915
|
|
NM_000314.8(PTEN):c.834C>A (p.Phe278Leu)
|
rs867171992
|
|
NM_000314.8(PTEN):c.834C>T (p.Phe278=)
|
rs867171992
|
|
NM_000314.8(PTEN):c.835_849del (p.Phe279_Pro283del)
|
|
|
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.83T>C (p.Ile28Thr)
|
rs1355570425
|
|
NM_000314.8(PTEN):c.83T>G (p.Ile28Ser)
|
rs1355570425
|
|
NM_000314.8(PTEN):c.840_841del (p.Pro281fs)
|
rs1589665670
|
|
NM_000314.8(PTEN):c.841C>T (p.Pro281Ser)
|
rs750705904
|
|
NM_000314.8(PTEN):c.843A>G (p.Pro281=)
|
rs1554825518
|
|
NM_000314.8(PTEN):c.845G>A (p.Gly282Glu)
|
rs1860619555
|
|
NM_000314.8(PTEN):c.845del (p.Gly282fs)
|
rs864622451
|
|
NM_000314.8(PTEN):c.847C>G (p.Pro283Ala)
|
rs876658988
|
|
NM_000314.8(PTEN):c.847C>T (p.Pro283Ser)
|
rs876658988
|
|
NM_000314.8(PTEN):c.848C>G (p.Pro283Arg)
|
rs1860619820
|
|
NM_000314.8(PTEN):c.848C>T (p.Pro283Leu)
|
rs1860619820
|
|
NM_000314.8(PTEN):c.849_852dup (p.Glu285fs)
|
|
|
NM_000314.8(PTEN):c.84T>G (p.Ile28Met)
|
rs2132187113
|
|
NM_000314.8(PTEN):c.852G>A (p.Glu284=)
|
rs1860620187
|
|
NM_000314.8(PTEN):c.852G>T (p.Glu284Asp)
|
rs1860620187
|
|
NM_000314.8(PTEN):c.853G>A (p.Glu285Lys)
|
rs1564568265
|
|
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
|
|
|
NM_000314.8(PTEN):c.855A>T (p.Glu285Asp)
|
rs751888926
|
|
NM_000314.8(PTEN):c.855_856del (p.Glu285fs)
|
rs1860620392
|
|
NM_000314.8(PTEN):c.856A>G (p.Thr286Ala)
|
|
|
NM_000314.8(PTEN):c.857C>A (p.Thr286Asn)
|
|
|
NM_000314.8(PTEN):c.858C>T (p.Thr286=)
|
rs876660443
|
|
NM_000314.8(PTEN):c.859T>C (p.Ser287Pro)
|
rs1554825526
|
|
NM_000314.8(PTEN):c.860C>A (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.861A>G (p.Ser287=)
|
rs1564568288
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
NM_000314.8(PTEN):c.863_865delinsCT (p.Glu288fs)
|
rs1589665750
|
|
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs)
|
rs1554825530
|
|
NM_000314.8(PTEN):c.865_866insTTCT (p.Lys289fs)
|
rs1554825530
|
|
NM_000314.8(PTEN):c.867A>G (p.Lys289=)
|
rs2132282206
|
|
NM_000314.8(PTEN):c.867dup (p.Val290fs)
|
|
|
NM_000314.8(PTEN):c.868G>A (p.Val290Ile)
|
rs35600253
|
|
NM_000314.8(PTEN):c.868G>C (p.Val290Leu)
|
rs35600253
|
|
NM_000314.8(PTEN):c.869T>C (p.Val290Ala)
|
rs876661234
|
|
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.872A>G (p.Glu291Gly)
|
rs1564568318
|
|
NM_000314.8(PTEN):c.875A>G (p.Asn292Ser)
|
rs2132282266
|
|
NM_000314.8(PTEN):c.875A>T (p.Asn292Ile)
|
|
|
NM_000314.8(PTEN):c.875del (p.Asn292fs)
|
rs786204905
|
|
NM_000314.8(PTEN):c.875dup (p.Asn292fs)
|
rs786204905
|
|
NM_000314.8(PTEN):c.876T>C (p.Asn292=)
|
rs864622098
|
|
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter)
|
rs878853944
|
|
NM_000314.8(PTEN):c.878G>C (p.Gly293Ala)
|
|
|
NM_000314.8(PTEN):c.878G>T (p.Gly293Val)
|
rs1860622339
|
|
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>A (p.Tyr29Ter)
|
rs1554893756
|
|
NM_000314.8(PTEN):c.87T>C (p.Tyr29=)
|
rs1554893756
|
|
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn)
|
rs1175543698
|
|
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.884dup (p.Cys296fs)
|
rs587780006
|
|
NM_000314.8(PTEN):c.885A>C (p.Leu295=)
|
rs587780713
|
|
NM_000314.8(PTEN):c.885A>T (p.Leu295=)
|
|
|
NM_000314.8(PTEN):c.885_888del (p.Cys296fs)
|
rs1114167675
|
|
NM_000314.8(PTEN):c.886T>C (p.Cys296Arg)
|
rs786202207
|
|
NM_000314.8(PTEN):c.888T>G (p.Cys296Trp)
|
rs1589665853
|
|
NM_000314.8(PTEN):c.889G>C (p.Asp297His)
|
rs370064195
|
|
NM_000314.8(PTEN):c.889G>T (p.Asp297Tyr)
|
rs370064195
|
|
NM_000314.8(PTEN):c.88C>G (p.Pro30Ala)
|
|
|
NM_000314.8(PTEN):c.890A>G (p.Asp297Gly)
|
rs2132282426
|
|
NM_000314.8(PTEN):c.892C>A (p.Gln298Lys)
|
rs371387815
|
|
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter)
|
rs371387815
|
|
NM_000314.8(PTEN):c.893A>C (p.Gln298Pro)
|
|
|
NM_000314.8(PTEN):c.894A>G (p.Gln298=)
|
|
|
NM_000314.8(PTEN):c.895G>A (p.Glu299Lys)
|
|
|
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)
|
rs1114167674
|
|
NM_000314.8(PTEN):c.896A>G (p.Glu299Gly)
|
rs1554825550
|
|
NM_000314.8(PTEN):c.89C>G (p.Pro30Arg)
|
rs1589617164
|
|
NM_000314.8(PTEN):c.89C>T (p.Pro30Leu)
|
rs1589617164
|
|
NM_000314.8(PTEN):c.8C>T (p.Ala3Val)
|
rs1564801650
|
|
NM_000314.8(PTEN):c.900C>A (p.Ile300=)
|
rs550122918
|
|
NM_000314.8(PTEN):c.900del (p.Ile300fs)
|
rs797045904
|
|
NM_000314.8(PTEN):c.901dup (p.Asp301fs)
|
rs1646757490
|
|
NM_000314.8(PTEN):c.903T>C (p.Asp301=)
|
rs2132282573
|
|
NM_000314.8(PTEN):c.904A>G (p.Ser302Gly)
|
rs1334444415
|
|
NM_000314.8(PTEN):c.906C>G (p.Ser302Arg)
|
rs876660906
|
|
NM_000314.8(PTEN):c.907A>G (p.Ile303Val)
|
rs1114167660
|
|
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.913A>G (p.Ser305Gly)
|
rs775461980
|
|
NM_000314.8(PTEN):c.913del (p.Ser305fs)
|
rs1860625404
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000314.8(PTEN):c.914G>T (p.Ser305Ile)
|
rs587780007
|
|
NM_000314.8(PTEN):c.915T>G (p.Ser305Arg)
|
rs876658345
|
|
NM_000314.8(PTEN):c.915del (p.Ser305fs)
|
rs1589665953
|
|
NM_000314.8(PTEN):c.916A>G (p.Ile306Val)
|
rs786203858
|
|
NM_000314.8(PTEN):c.917T>C (p.Ile306Thr)
|
rs2132282700
|
|
NM_000314.8(PTEN):c.917_920dup (p.Glu307fs)
|
rs2132282693
|
|
NM_000314.8(PTEN):c.918A>G (p.Ile306Met)
|
|
|
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln)
|
rs746930141
|
|
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)
|
rs1859093459
|
|
NM_000314.8(PTEN):c.920A>G (p.Glu307Gly)
|
rs1197734477
|
|
NM_000314.8(PTEN):c.920_921del (p.Glu307fs)
|
rs2132282720
|
|
NM_000314.8(PTEN):c.920_921dup (p.Arg308fs)
|
|
|
NM_000314.8(PTEN):c.921G>A (p.Glu307=)
|
rs1860626419
|
|
NM_000314.8(PTEN):c.921G>C (p.Glu307Asp)
|
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
NM_000314.8(PTEN):c.923G>T (p.Arg308Leu)
|
|
|
NM_000314.8(PTEN):c.927A>G (p.Ala309=)
|
|
|
NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs)
|
rs786204906
|
|
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)
|
rs1564568473
|
|
NM_000314.8(PTEN):c.929del (p.Asp310fs)
|
rs1589665989
|
|
NM_000314.8(PTEN):c.92del (p.Asn31fs)
|
rs1564814427
|
|
NM_000314.8(PTEN):c.931_933del (p.Asn311del)
|
rs1860627006
|
|
NM_000314.8(PTEN):c.932A>T (p.Asn311Ile)
|
|
|
NM_000314.8(PTEN):c.933T>C (p.Asn311=)
|
rs2132282863
|
|
NM_000314.8(PTEN):c.934G>A (p.Asp312Asn)
|
rs878853946
|
|
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly)
|
rs863224667
|
|
NM_000314.8(PTEN):c.937A>C (p.Lys313Gln)
|
rs1589666011
|
|
NM_000314.8(PTEN):c.939G>A (p.Lys313=)
|
rs562164491
|
|
NM_000314.8(PTEN):c.93C>A (p.Asn31Lys)
|
rs1170214930
|
|
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala)
|
rs1171478249
|
|
NM_000314.8(PTEN):c.941A>T (p.Glu314Val)
|
rs1171478249
|
|
NM_000314.8(PTEN):c.942A>G (p.Glu314=)
|
rs1589666037
|
|
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter)
|
rs876661058
|
|
NM_000314.8(PTEN):c.945T>G (p.Tyr315Ter)
|
rs876661058
|
|
NM_000314.8(PTEN):c.946C>A (p.Leu316Ile)
|
rs1554825577
|
|
NM_000314.8(PTEN):c.946C>T (p.Leu316=)
|
rs1554825577
|
|
NM_000314.8(PTEN):c.949G>A (p.Val317Ile)
|
rs876658630
|
|
NM_000314.8(PTEN):c.949G>C (p.Val317Leu)
|
|
|
NM_000314.8(PTEN):c.949del (p.Val317fs)
|
rs876658837
|
|
NM_000314.8(PTEN):c.94A>G (p.Ile32Val)
|
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.953T>C (p.Leu318Pro)
|
|
|
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.956C>A (p.Thr319Asn)
|
rs761350690
|
|
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.957T>C (p.Thr319=)
|
rs2132283142
|
|
NM_000314.8(PTEN):c.958_959del (p.Leu320fs)
|
rs1114167682
|
|
NM_000314.8(PTEN):c.958_959insG (p.Leu320fs)
|
|
|
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.959T>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.95T>A (p.Ile32Asn)
|
rs1057518329
|
|
NM_000314.8(PTEN):c.95T>C (p.Ile32Thr)
|
rs1057518329
|
|
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)
|
rs786202004
|
|
NM_000314.8(PTEN):c.966A>G (p.Lys322=)
|
rs786201392
|
|
NM_000314.8(PTEN):c.968A>C (p.Asn323Thr)
|
rs1589666155
|
|
NM_000314.8(PTEN):c.968del (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.968dup (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.96T>C (p.Ile32=)
|
|
|
NM_000314.8(PTEN):c.971A>G (p.Asp324Gly)
|
rs1589666167
|
|
NM_000314.8(PTEN):c.972T>A (p.Asp324Glu)
|
rs1860630615
|
|
NM_000314.8(PTEN):c.972del (p.Asp326fs)
|
rs1860630701
|
|
NM_000314.8(PTEN):c.973del (p.Asp326fs)
|
rs1554825602
|
|
NM_000314.8(PTEN):c.974T>C (p.Leu325Pro)
|
rs1114167654
|
|
NM_000314.8(PTEN):c.974T>G (p.Leu325Arg)
|
rs1114167654
|
|
NM_000314.8(PTEN):c.975T>C (p.Leu325=)
|
|
|
NM_000314.8(PTEN):c.976G>A (p.Asp326Asn)
|
|
|
NM_000314.8(PTEN):c.977A>G (p.Asp326Gly)
|
rs1860631246
|
|
NM_000314.8(PTEN):c.978C>A (p.Asp326Glu)
|
rs1860631336
|
|
NM_000314.8(PTEN):c.978C>G (p.Asp326Glu)
|
rs1860631336
|
|
NM_000314.8(PTEN):c.980_981del (p.Lys327fs)
|
|
|
NM_000314.8(PTEN):c.982del (p.Ala328fs)
|
|
|
NM_000314.8(PTEN):c.984A>C (p.Ala328=)
|
|
|
NM_000314.8(PTEN):c.984A>G (p.Ala328=)
|
rs2132283374
|
|
NM_000314.8(PTEN):c.984_998del (p.Lys330_Asn334del)
|
|
|
NM_000314.8(PTEN):c.986A>G (p.Asn329Ser)
|
rs1860631722
|
|
NM_000314.8(PTEN):c.987_1001dup (p.Asn334_Arg335insLysAspLysAlaAsn)
|
|
|
NM_000314.8(PTEN):c.987_990del (p.Asn329fs)
|
rs587782304
|
|
NM_000314.8(PTEN):c.987_996dup (p.Ala333Ter)
|
rs864622387
|
|
NM_000314.8(PTEN):c.988A>G (p.Lys330Glu)
|
rs1554825607
|
|
NM_000314.8(PTEN):c.989_990del (p.Lys330fs)
|
rs1249338494
|
|
NM_000314.8(PTEN):c.989_992del (p.Lys330fs)
|
rs2132283419
|
|
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr)
|
rs1554893771
|
|
NM_000314.8(PTEN):c.991_992del (p.Asp331fs)
|
rs1554825611
|
|
NM_000314.8(PTEN):c.993C>T (p.Asp331=)
|
rs2132283468
|
|
NM_000314.8(PTEN):c.996dup (p.Ala333fs)
|
rs1554825615
|
|
NM_000314.8(PTEN):c.998C>A (p.Ala333Asp)
|
rs1554825616
|
|
NM_000314.8(PTEN):c.999C>T (p.Ala333=)
|
rs2132283524
|
|
NM_000314.8(PTEN):c.999_1016del (p.Arg335_Asn340del)
|
rs1589666237
|
|
NM_000314.8(PTEN):c.9C>T (p.Ala3=)
|
rs1554890328
|
|
NM_001126049.2(KLLN):c.-794_-783del
|
rs587781340
|
|
NM_001126049.2(KLLN):c.-897A>G
|
rs869312983
|
|
NM_001304718.2(PTEN):c.-541-5533del
|
rs2132232095
|
|
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=)
|
rs758651475
|
|
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=)
|
rs1489572550
|
|
NM_001382430.1(AKT1):c.1009G>A (p.Val337Met)
|
rs1247419183
|
|
NM_001382430.1(AKT1):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_001382430.1(AKT1):c.1037G>A (p.Arg346His)
|
rs1219649544
|
|
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=)
|
rs1060504819
|
|
NM_001382430.1(AKT1):c.1039C>T (p.Leu347=)
|
|
|
NM_001382430.1(AKT1):c.1052A>G (p.Asn351Ser)
|
|
|
NM_001382430.1(AKT1):c.106A>G (p.Ile36Val)
|
rs781339141
|
|
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.1088T>C (p.Met363Thr)
|
rs1892478123
|
|
NM_001382430.1(AKT1):c.1097T>C (p.Ile366Thr)
|
rs1892477463
|
|
NM_001382430.1(AKT1):c.1099C>A (p.Arg367Ser)
|
rs762705090
|
|
NM_001382430.1(AKT1):c.1107G>C (p.Pro369=)
|
rs150399268
|
|
NM_001382430.1(AKT1):c.1108C>A (p.Arg370Ser)
|
|
|
NM_001382430.1(AKT1):c.1108C>T (p.Arg370Cys)
|
rs549370342
|
|
NM_001382430.1(AKT1):c.1112C>T (p.Thr371Met)
|
rs781388586
|
|
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.1117G>A (p.Gly373Ser)
|
|
|
NM_001382430.1(AKT1):c.1119T>A (p.Gly373=)
|
rs2140900738
|
|
NM_001382430.1(AKT1):c.1123G>A (p.Glu375Lys)
|
|
|
NM_001382430.1(AKT1):c.1130A>G (p.Lys377Arg)
|
rs1480573852
|
|
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.1159G>A (p.Asp387Asn)
|
rs1566816289
|
|
NM_001382430.1(AKT1):c.1161C>T (p.Asp387=)
|
rs1309319250
|
|
NM_001382430.1(AKT1):c.1166A>C (p.Lys389Thr)
|
rs1390801321
|
|
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.1173G>A (p.Arg391=)
|
rs889505130
|
|
NM_001382430.1(AKT1):c.1176T>C (p.Leu392=)
|
rs1049525123
|
|
NM_001382430.1(AKT1):c.117G>A (p.Lys39=)
|
rs1595251382
|
|
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=)
|
rs911689817
|
|
NM_001382430.1(AKT1):c.1189G>C (p.Glu397Gln)
|
rs531850885
|
|
NM_001382430.1(AKT1):c.1190A>C (p.Glu397Ala)
|
|
|
NM_001382430.1(AKT1):c.1191G>T (p.Glu397Asp)
|
rs1334042967
|
|
NM_001382430.1(AKT1):c.1195G>A (p.Ala399Thr)
|
rs188580689
|
|
NM_001382430.1(AKT1):c.1216C>T (p.Arg406Cys)
|
rs749544983
|
|
NM_001382430.1(AKT1):c.1217G>A (p.Arg406His)
|
|
|
NM_001382430.1(AKT1):c.1234G>A (p.Val412Met)
|
rs1444891733
|
|
NM_001382430.1(AKT1):c.1242G>C (p.Gln414His)
|
rs1555383354
|
|
NM_001382430.1(AKT1):c.1245C>G (p.His415Gln)
|
rs758476416
|
|
NM_001382430.1(AKT1):c.1248G>A (p.Val416=)
|
rs1595241057
|
|
NM_001382430.1(AKT1):c.125C>T (p.Pro42Leu)
|
|
|
NM_001382430.1(AKT1):c.1260+19T>C
|
|
|
NM_001382430.1(AKT1):c.1260+1G>C
|
rs112117625
|
|
NM_001382430.1(AKT1):c.1260+7C>G
|
|
|
NM_001382430.1(AKT1):c.1261-8C>T
|
|
|
NM_001382430.1(AKT1):c.1261C>T (p.Leu421Phe)
|
rs1566815164
|
|
NM_001382430.1(AKT1):c.1267C>T (p.Pro423Ser)
|
|
|
NM_001382430.1(AKT1):c.126G>T (p.Pro42=)
|
|
|
NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr)
|
rs1892344387
|
|
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.1292C>T (p.Ser431Leu)
|
|
|
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.1318G>A (p.Glu440Lys)
|
|
|
NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp)
|
rs1159942120
|
|
NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)
|
|
|
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=)
|
rs1060504820
|
|
NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe)
|
|
|
NM_001382430.1(AKT1):c.1357G>C (p.Asp453His)
|
|
|
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.1364-3C>T
|
rs113777945
|
|
NM_001382430.1(AKT1):c.1364-9C>T
|
|
|
NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys)
|
|
|
NM_001382430.1(AKT1):c.1383G>A (p.Val461=)
|
rs763831402
|
|
NM_001382430.1(AKT1):c.1386C>T (p.Asp462=)
|
|
|
NM_001382430.1(AKT1):c.1387A>G (p.Ser463Gly)
|
|
|
NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys)
|
rs770370100
|
|
NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)
|
|
|
NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys)
|
|
|
NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser)
|
|
|
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=)
|
rs1221539515
|
|
NM_001382430.1(AKT1):c.141A>G (p.Gln47=)
|
|
|
NM_001382430.1(AKT1):c.141A>T (p.Gln47His)
|
|
|
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)
|
|
|
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=)
|
rs555187157
|
|
NM_001382430.1(AKT1):c.1440C>G (p.Ala480=)
|
rs1892307322
|
|
NM_001382430.1(AKT1):c.148G>A (p.Ala50Thr)
|
|
|
NM_001382430.1(AKT1):c.153C>T (p.Pro51=)
|
|
|
NM_001382430.1(AKT1):c.161A>T (p.Asn54Ile)
|
|
|
NM_001382430.1(AKT1):c.165C>T (p.Phe55=)
|
rs1892948975
|
|
NM_001382430.1(AKT1):c.16A>G (p.Ile6Val)
|
rs1893685625
|
|
NM_001382430.1(AKT1):c.171G>A (p.Val57=)
|
|
|
NM_001382430.1(AKT1):c.175+16G>C
|
rs2140948331
|
|
NM_001382430.1(AKT1):c.175+18C>G
|
rs3730358
|
|
NM_001382430.1(AKT1):c.175+18C>T
|
rs3730358
|
|
NM_001382430.1(AKT1):c.175+5G>A
|
rs754417090
|
|
NM_001382430.1(AKT1):c.176-16C>T
|
|
|
NM_001382430.1(AKT1):c.176-19A>G
|
|
|
NM_001382430.1(AKT1):c.176-23_176-17del
|
rs763840311
|
|
NM_001382430.1(AKT1):c.176-3C>G
|
rs1401652672
|
|
NM_001382430.1(AKT1):c.176-3C>T
|
|
|
NM_001382430.1(AKT1):c.176-5C>A
|
rs377076374
|
|
NM_001382430.1(AKT1):c.176-5C>G
|
rs377076374
|
|
NM_001382430.1(AKT1):c.176-5C>T
|
rs377076374
|
|
NM_001382430.1(AKT1):c.176-7C>T
|
|
|
NM_001382430.1(AKT1):c.179G>A (p.Cys60Tyr)
|
rs923841704
|
|
NM_001382430.1(AKT1):c.17T>C (p.Ile6Thr)
|
|
|
NM_001382430.1(AKT1):c.186G>A (p.Leu62=)
|
|
|
NM_001382430.1(AKT1):c.195G>C (p.Thr65=)
|
|
|
NM_001382430.1(AKT1):c.200G>A (p.Arg67Gln)
|
rs1396308032
|
|
NM_001382430.1(AKT1):c.222C>T (p.Ile74=)
|
rs2140930465
|
|
NM_001382430.1(AKT1):c.225C>G (p.Ile75Met)
|
rs587778019
|
|
NM_001382430.1(AKT1):c.226C>T (p.Arg76Cys)
|
rs1012676649
|
|
NM_001382430.1(AKT1):c.230G>T (p.Cys77Phe)
|
|
|
NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg)
|
rs1057518602
|
|
NM_001382430.1(AKT1):c.253G>A (p.Glu85Lys)
|
rs1566818890
|
|
NM_001382430.1(AKT1):c.257G>A (p.Arg86His)
|
rs773971502
|
|
NM_001382430.1(AKT1):c.27G>A (p.Glu9=)
|
|
|
NM_001382430.1(AKT1):c.281A>C (p.Glu94Ala)
|
|
|
NM_001382430.1(AKT1):c.285G>A (p.Glu95=)
|
|
|
NM_001382430.1(AKT1):c.286C>T (p.Arg96Trp)
|
|
|
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.288-1G>C
|
|
|
NM_001382430.1(AKT1):c.288-20C>T
|
|
|
NM_001382430.1(AKT1):c.288-28_288-9dup
|
|
|
NM_001382430.1(AKT1):c.288-4G>T
|
rs778501455
|
|
NM_001382430.1(AKT1):c.288-7_288-5del
|
rs1206923979
|
|
NM_001382430.1(AKT1):c.288-9_288-8delinsGA
|
rs1892668261
|
|
NM_001382430.1(AKT1):c.309C>T (p.Ile103=)
|
rs2140922911
|
|
NM_001382430.1(AKT1):c.314C>G (p.Thr105Ser)
|
|
|
NM_001382430.1(AKT1):c.318G>C (p.Val106=)
|
rs761930839
|
|
NM_001382430.1(AKT1):c.328C>T (p.Leu110Phe)
|
rs1892663954
|
|
NM_001382430.1(AKT1):c.333G>A (p.Lys111=)
|
|
|
NM_001382430.1(AKT1):c.340GAG[3] (p.Glu117del)
|
rs768025881
|
|
NM_001382430.1(AKT1):c.340GAG[5] (p.Glu117dup)
|
rs768025881
|
|
NM_001382430.1(AKT1):c.340GAG[6] (p.Glu117_Met118insGluGlu)
|
|
|
NM_001382430.1(AKT1):c.348G>A (p.Glu116=)
|
rs1595245735
|
|
NM_001382430.1(AKT1):c.349G>A (p.Glu117Lys)
|
rs776345122
|
|
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.360C>A (p.Phe120Leu)
|
|
|
NM_001382430.1(AKT1):c.362G>T (p.Arg121Leu)
|
rs1457484217
|
|
NM_001382430.1(AKT1):c.372_377del (p.Pro125_Ser126del)
|
|
|
NM_001382430.1(AKT1):c.377G>C (p.Ser126Thr)
|
rs1892659749
|
|
NM_001382430.1(AKT1):c.383A>T (p.Asn128Ile)
|
|
|
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.415G>C (p.Ala139Pro)
|
rs1566818045
|
|
NM_001382430.1(AKT1):c.416C>T (p.Ala139Val)
|
|
|
NM_001382430.1(AKT1):c.422C>T (p.Pro141Leu)
|
rs2140921941
|
|
NM_001382430.1(AKT1):c.433G>A (p.Val145Met)
|
|
|
NM_001382430.1(AKT1):c.433G>C (p.Val145Leu)
|
|
|
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.458T>C (p.Leu153Pro)
|
|
|
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.47-4_47-3del
|
rs1892956019
|
|
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.493A>G (p.Ile165Val)
|
rs2140917455
|
|
NM_001382430.1(AKT1):c.493A>T (p.Ile165Phe)
|
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001382430.1(AKT1):c.4A>G (p.Ser2Gly)
|
rs1566826869
|
|
NM_001382430.1(AKT1):c.512C>T (p.Ala171Val)
|
rs768070795
|
|
NM_001382430.1(AKT1):c.515C>T (p.Thr172Ile)
|
rs748789094
|
|
NM_001382430.1(AKT1):c.544AAG[1] (p.Lys183del)
|
rs2140916645
|
|
NM_001382430.1(AKT1):c.545A>G (p.Lys182Arg)
|
rs1555383695
|
|
NM_001382430.1(AKT1):c.552A>G (p.Glu184=)
|
rs1422104904
|
|
NM_001382430.1(AKT1):c.55A>G (p.Ile19Val)
|
|
|
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.599G>A (p.Arg200His)
|
rs1462219795
|
|
NM_001382430.1(AKT1):c.600C>T (p.Arg200=)
|
|
|
NM_001382430.1(AKT1):c.612C>T (p.Asn204=)
|
rs1044733473
|
|
NM_001382430.1(AKT1):c.614C>G (p.Ser205Cys)
|
rs1240566715
|
|
NM_001382430.1(AKT1):c.620A>T (p.His207Leu)
|
|
|
NM_001382430.1(AKT1):c.622C>G (p.Pro208Ala)
|
|
|
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.635C>G (p.Ala212Gly)
|
rs1163499100
|
|
NM_001382430.1(AKT1):c.641A>G (p.Lys214Arg)
|
rs2140910262
|
|
NM_001382430.1(AKT1):c.661G>A (p.Asp221Asn)
|
rs762040581
|
|
NM_001382430.1(AKT1):c.662A>G (p.Asp221Gly)
|
|
|
NM_001382430.1(AKT1):c.669C>G (p.Leu223=)
|
rs376531915
|
|
NM_001382430.1(AKT1):c.68G>A (p.Arg23Gln)
|
rs1892954317
|
|
NM_001382430.1(AKT1):c.692A>G (p.Asn231Ser)
|
rs1595243377
|
|
NM_001382430.1(AKT1):c.699C>T (p.Gly233=)
|
|
|
NM_001382430.1(AKT1):c.702+5G>A
|
|
|
NM_001382430.1(AKT1):c.702+5G>T
|
|
|
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.719C>G (p.Ser240Cys)
|
rs773520823
|
|
NM_001382430.1(AKT1):c.722G>A (p.Arg241Gln)
|
rs1244832277
|
|
NM_001382430.1(AKT1):c.727C>T (p.Arg243Cys)
|
rs1340970650
|
|
NM_001382430.1(AKT1):c.734T>G (p.Phe245Cys)
|
rs2140907264
|
|
NM_001382430.1(AKT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_001382430.1(AKT1):c.741G>C (p.Glu247Asp)
|
rs1229752019
|
|
NM_001382430.1(AKT1):c.745C>T (p.Arg249Trp)
|
rs1458420660
|
|
NM_001382430.1(AKT1):c.747G>T (p.Arg249=)
|
rs2140907069
|
|
NM_001382430.1(AKT1):c.749C>T (p.Ala250Val)
|
rs1892523027
|
|
NM_001382430.1(AKT1):c.750C>G (p.Ala250=)
|
rs1892522821
|
|
NM_001382430.1(AKT1):c.756C>T (p.Phe252=)
|
|
|
NM_001382430.1(AKT1):c.760G>A (p.Gly254Ser)
|
|
|
NM_001382430.1(AKT1):c.765T>A (p.Ala255=)
|
|
|
NM_001382430.1(AKT1):c.765T>C (p.Ala255=)
|
|
|
NM_001382430.1(AKT1):c.770T>C (p.Ile257Thr)
|
rs1555383511
|
|
NM_001382430.1(AKT1):c.796T>G (p.Ser266Ala)
|
rs1892518764
|
|
NM_001382430.1(AKT1):c.799G>A (p.Glu267Lys)
|
rs1892518022
|
|
NM_001382430.1(AKT1):c.817C>T (p.Arg273Trp)
|
rs2140906502
|
|
NM_001382430.1(AKT1):c.818G>A (p.Arg273Gln)
|
rs1424916218
|
|
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+5G>A
|
rs1199214347
|
|
NM_001382430.1(AKT1):c.828+5G>C
|
rs1199214347
|
|
NM_001382430.1(AKT1):c.828+6C>G
|
rs1892515105
|
|
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.829-4C>T
|
rs756663391
|
|
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.916A>G (p.Met306Val)
|
rs1892503990
|
|
NM_001382430.1(AKT1):c.917T>C (p.Met306Thr)
|
rs1555383471
|
|
NM_001382430.1(AKT1):c.927T>C (p.Phe309=)
|
rs1566816545
|
|
NM_001382430.1(AKT1):c.92A>G (p.Asn31Ser)
|
|
|
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.954C>A (p.Pro318=)
|
rs746944273
|
|
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.957+3G>A
|
rs1219173005
|
|
NM_001382430.1(AKT1):c.957+3G>C
|
|
|
NM_001382430.1(AKT1):c.957+3G>T
|
rs1219173005
|
|
NM_001382430.1(AKT1):c.957+6C>T
|
|
|
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.971A>G (p.Asn324Ser)
|
|
|
NM_001382430.1(AKT1):c.979G>A (p.Gly327Ser)
|
|
|
NM_001382430.1(AKT1):c.983G>A (p.Arg328His)
|
rs1892486033
|
|
NM_001382430.1(AKT1):c.985G>A (p.Ala329Thr)
|
rs2140902698
|
|
NM_001382430.1(AKT1):c.99C>T (p.Gly33=)
|
|
|
NM_003002.4(SDHD):c.102T>A (p.Phe34Leu)
|
|
|
NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.107A>C (p.Gln36Pro)
|
rs759143732
|
|
NM_003002.4(SDHD):c.108G>T (p.Gln36His)
|
rs766884646
|
|
NM_003002.4(SDHD):c.109G>A (p.Asp37Asn)
|
rs1865654125
|
|
NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)
|
|
|
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)
|
rs1032016970
|
|
NM_003002.4(SDHD):c.10dup (p.Leu4fs)
|
rs878854589
|
|
NM_003002.4(SDHD):c.110A>T (p.Asp37Val)
|
rs1865654258
|
|
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro)
|
rs199901239
|
|
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
|
rs1865654197
|
|
NM_003002.4(SDHD):c.114A>G (p.Arg38=)
|
rs1555186794
|
|
NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)
|
rs1043566340
|
|
NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)
|
|
|
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)
|
rs146276662
|
|
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
|
rs1592778916
|
|
NM_003002.4(SDHD):c.120C>G (p.Ile40Met)
|
rs2135267285
|
|
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala)
|
rs764006625
|
|
NM_003002.4(SDHD):c.121C>T (p.Pro41Ser)
|
rs764006625
|
|
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
|
|
|
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)
|
rs1865655347
|
|
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)
|
|
|
NM_003002.4(SDHD):c.126A>G (p.Glu42=)
|
rs2135267333
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.12C>T (p.Leu4=)
|
rs2135264636
|
|
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr)
|
rs1566692479
|
|
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
|
|
|
NM_003002.4(SDHD):c.136G>A (p.Val46Met)
|
rs886047699
|
|
NM_003002.4(SDHD):c.136G>T (p.Val46Leu)
|
rs886047699
|
|
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
|
|
|
NM_003002.4(SDHD):c.138G>A (p.Val46=)
|
rs2135267384
|
|
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)
|
rs1865655722
|
|
NM_003002.4(SDHD):c.13T>A (p.Trp5Arg)
|
|
|
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)
|
rs1566690018
|
|
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg)
|
rs899706404
|
|
NM_003002.4(SDHD):c.145A>G (p.Ile49Val)
|
|
|
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr)
|
rs1555186808
|
|
NM_003002.4(SDHD):c.147A>G (p.Ile49Met)
|
rs1566692534
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)
|
rs104894310
|
|
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
|
|
|
NM_003002.4(SDHD):c.150C>G (p.His50Gln)
|
|
|
NM_003002.4(SDHD):c.150C>T (p.His50=)
|
|
|
NM_003002.4(SDHD):c.154T>G (p.Ser52Ala)
|
|
|
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)
|
rs587782210
|
|
NM_003002.4(SDHD):c.155C>T (p.Ser52Leu)
|
rs587782210
|
|
NM_003002.4(SDHD):c.156_158del (p.Pro53del)
|
|
|
NM_003002.4(SDHD):c.157C>G (p.Pro53Ala)
|
rs1865656629
|
|
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
|
|
|
NM_003002.4(SDHD):c.160A>C (p.Ser54Arg)
|
rs2135267524
|
|
NM_003002.4(SDHD):c.164A>G (p.His55Arg)
|
|
|
NM_003002.4(SDHD):c.164A>T (p.His55Leu)
|
rs1865656869
|
|
NM_003002.4(SDHD):c.165C>T (p.His55=)
|
rs1592779061
|
|
NM_003002.4(SDHD):c.167A>G (p.His56Arg)
|
rs1555186817
|
|
NM_003002.4(SDHD):c.168T>A (p.His56Gln)
|
rs1865657093
|
|
NM_003002.4(SDHD):c.169+11T>C
|
|
|
NM_003002.4(SDHD):c.169+16C>T
|
|
|
NM_003002.4(SDHD):c.169+1G>A
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+1G>T
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+20G>T
|
|
|
NM_003002.4(SDHD):c.169+3A>G
|
rs1865657168
|
|
NM_003002.4(SDHD):c.169+5G>C
|
rs1865657237
|
|
NM_003002.4(SDHD):c.169+7TC[2]
|
|
|
NM_003002.4(SDHD):c.169+8C>T
|
rs1592779083
|
|
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
|
rs11547889
|
|
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.170-12T>A
|
|
|
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.170-1G>T
|
rs1306475361
|
|
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.170-2A>G
|
|
|
NM_003002.4(SDHD):c.170-5T>A
|
rs1218549926
|
|
NM_003002.4(SDHD):c.170-6T>G
|
rs753703004
|
|
NM_003002.4(SDHD):c.170-8T>A
|
rs2135269114
|
|
NM_003002.4(SDHD):c.170-9T>C
|
rs1592780269
|
|
NM_003002.4(SDHD):c.170C>G (p.Ser57Cys)
|
|
|
NM_003002.4(SDHD):c.170C>T (p.Ser57Phe)
|
rs2135269128
|
|
NM_003002.4(SDHD):c.171T>C (p.Ser57=)
|
rs2135269133
|
|
NM_003002.4(SDHD):c.172G>A (p.Gly58Ser)
|
rs1865684789
|
|
NM_003002.4(SDHD):c.173G>A (p.Gly58Asp)
|
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
|
rs1592780300
|
|
NM_003002.4(SDHD):c.177C>T (p.Ser59=)
|
rs764869982
|
|
NM_003002.4(SDHD):c.179A>C (p.Lys60Thr)
|
|
|
NM_003002.4(SDHD):c.179A>G (p.Lys60Arg)
|
|
|
NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)
|
|
|
NM_003002.4(SDHD):c.180G>A (p.Lys60=)
|
rs750688879
|
|
NM_003002.4(SDHD):c.181G>C (p.Ala61Pro)
|
|
|
NM_003002.4(SDHD):c.182C>T (p.Ala61Val)
|
|
|
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.18G>T (p.Arg6Ser)
|
rs200895313
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
NM_003002.4(SDHD):c.190C>G (p.Leu64Val)
|
|
|
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)
|
rs387906358
|
|
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
|
|
|
NM_003002.4(SDHD):c.192C>G (p.Leu64=)
|
rs1592780337
|
|
NM_003002.4(SDHD):c.194A>G (p.His65Arg)
|
rs780226013
|
|
NM_003002.4(SDHD):c.195C>T (p.His65=)
|
rs11547893
|
|
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.199A>G (p.Thr67Ala)
|
rs2135269250
|
|
NM_003002.4(SDHD):c.19C>T (p.Leu7=)
|
rs1337542194
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
|
rs1592780362
|
|
NM_003002.4(SDHD):c.201T>C (p.Thr67=)
|
rs2135269268
|
|
NM_003002.4(SDHD):c.203G>C (p.Ser68Thr)
|
|
|
NM_003002.4(SDHD):c.204C>A (p.Ser68Arg)
|
|
|
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)
|
rs1865686266
|
|
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
|
|
|
NM_003002.4(SDHD):c.207G>A (p.Glu69=)
|
rs1592780392
|
|
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys)
|
rs755047928
|
|
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)
|
rs755047928
|
|
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.211G>T (p.Val71Phe)
|
rs1428042303
|
|
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.220G>A (p.Val74Ile)
|
|
|
NM_003002.4(SDHD):c.223T>C (p.Leu75=)
|
rs2135269384
|
|
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser)
|
rs1060503777
|
|
NM_003002.4(SDHD):c.224del (p.Leu75fs)
|
rs2135269378
|
|
NM_003002.4(SDHD):c.225G>C (p.Leu75Phe)
|
rs1865687714
|
|
NM_003002.4(SDHD):c.226C>T (p.Leu76Phe)
|
rs1865687801
|
|
NM_003002.4(SDHD):c.227T>C (p.Leu76Pro)
|
rs1865687896
|
|
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)
|
rs1865619629
|
|
NM_003002.4(SDHD):c.231G>A (p.Leu77=)
|
rs1187106228
|
|
NM_003002.4(SDHD):c.232G>A (p.Gly78Ser)
|
|
|
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
|
rs1592780479
|
|
NM_003002.4(SDHD):c.233G>T (p.Gly78Val)
|
rs1865688426
|
|
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
|
rs1592780488
|
|
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)
|
rs1555187010
|
|
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)
|
rs558914063
|
|
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
|
|
|
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)
|
rs80338844
|
|
NM_003002.4(SDHD):c.242del (p.Pro81fs)
|
rs878854591
|
|
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro)
|
rs745559875
|
|
NM_003002.4(SDHD):c.244G>T (p.Ala82Ser)
|
rs745559875
|
|
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.247G>A (p.Ala83Thr)
|
|
|
NM_003002.4(SDHD):c.248C>T (p.Ala83Val)
|
rs370165653
|
|
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)
|
|
|
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)
|
rs199517389
|
|
NM_003002.4(SDHD):c.259C>T (p.Pro87Ser)
|
rs1279566824
|
|
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
|
rs772671893
|
|
NM_003002.4(SDHD):c.260C>A (p.Pro87His)
|
|
|
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
|
|
|
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
|
rs1592780559
|
|
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
|
|
|
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
|
rs765102002
|
|
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu)
|
rs1555187033
|
|
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)
|
rs200255724
|
|
NM_003002.4(SDHD):c.269C>G (p.Ala90Gly)
|
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)
|
rs1592777287
|
|
NM_003002.4(SDHD):c.26C>T (p.Ala9Val)
|
rs1592777287
|
|
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.271A>T (p.Met91Leu)
|
rs2135269615
|
|
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
|
rs1592780595
|
|
NM_003002.4(SDHD):c.272T>C (p.Met91Thr)
|
|
|
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
|
|
|
NM_003002.4(SDHD):c.274G>A (p.Asp92Asn)
|
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.276C>G (p.Asp92Glu)
|
|
|
NM_003002.4(SDHD):c.276C>T (p.Asp92=)
|
rs2135269643
|
|
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
|
rs1592780620
|
|
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.281C>T (p.Ser94Phe)
|
rs199754684
|
|
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)
|
rs2135269697
|
|
NM_003002.4(SDHD):c.282C>G (p.Ser94=)
|
rs781182616
|
|
NM_003002.4(SDHD):c.283C>G (p.Leu95Val)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.283C>T (p.Leu95=)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.283del (p.Leu95fs)
|
rs2135269692
|
|
NM_003002.4(SDHD):c.286G>A (p.Ala96Thr)
|
rs1265437700
|
|
NM_003002.4(SDHD):c.288T>C (p.Ala96=)
|
rs2135269735
|
|
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
|
|
|
NM_003002.4(SDHD):c.288_290del (p.Ala98del)
|
rs1566694825
|
|
NM_003002.4(SDHD):c.288del (p.Ala97fs)
|
rs2135269740
|
|
NM_003002.4(SDHD):c.28G>A (p.Val10Ile)
|
rs1555186671
|
|
NM_003002.4(SDHD):c.290C>T (p.Ala97Val)
|
rs756533450
|
|
NM_003002.4(SDHD):c.291A>C (p.Ala97=)
|
rs1592780682
|
|
NM_003002.4(SDHD):c.292G>C (p.Ala98Pro)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.292G>T (p.Ala98Ser)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.295C>G (p.Leu99Val)
|
rs1865692425
|
|
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala)
|
rs1555187065
|
|
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)
|
rs786203067
|
|
NM_003002.4(SDHD):c.299C>T (p.Thr100Ile)
|
rs557454864
|
|
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
|
|
|
NM_003002.4(SDHD):c.301C>G (p.Leu101Val)
|
rs1165258369
|
|
NM_003002.4(SDHD):c.302T>A (p.Leu101His)
|
rs2135269810
|
|
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
|
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
NM_003002.4(SDHD):c.305A>C (p.His102Pro)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
NM_003002.4(SDHD):c.307G>C (p.Gly103Arg)
|
|
|
NM_003002.4(SDHD):c.308G>A (p.Gly103Asp)
|
|
|
NM_003002.4(SDHD):c.313T>C (p.Trp105Arg)
|
|
|
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+1G>A
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+1G>T
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+20del
|
rs755475561
|
|
NM_003002.4(SDHD):c.314+2C>T
|
rs1340664447
|
|
NM_003002.4(SDHD):c.314+3A>C
|
rs1555187084
|
|
NM_003002.4(SDHD):c.314+4A>G
|
rs1592780789
|
|
NM_003002.4(SDHD):c.314+5G>A
|
rs1566695035
|
|
NM_003002.4(SDHD):c.314+6T>C
|
rs1555187085
|
|
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.314G>A (p.Trp105Ter)
|
rs1131691065
|
|
NM_003002.4(SDHD):c.315-12C>A
|
|
|
NM_003002.4(SDHD):c.315-12dup
|
|
|
NM_003002.4(SDHD):c.315-13del
|
rs2135277277
|
|
NM_003002.4(SDHD):c.315-13dup
|
rs2135277277
|
|
NM_003002.4(SDHD):c.315-16T>G
|
|
|
NM_003002.4(SDHD):c.315-18T>A
|
rs1260988180
|
|
NM_003002.4(SDHD):c.315-2A>G
|
rs2135277333
|
|
NM_003002.4(SDHD):c.315-2A>T
|
|
|
NM_003002.4(SDHD):c.315-3T>C
|
rs1555187565
|
|
NM_003002.4(SDHD):c.315-3del
|
rs1566702297
|
|
NM_003002.4(SDHD):c.315-4T>G
|
rs944726340
|
|
NM_003002.4(SDHD):c.315-7_315-5delinsAAA
|
rs1060503775
|
|
NM_003002.4(SDHD):c.315-8T>C
|
rs1592786101
|
|
NM_003002.4(SDHD):c.315-9T>G
|
rs911853469
|
|
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)
|
rs1060503769
|
|
NM_003002.4(SDHD):c.315G>T (p.Trp105Cys)
|
|
|
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
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.319C>T (p.Leu107Phe)
|
rs1209781530
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)
|
|
|
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
|
rs1060503770
|
|
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)
|
rs1555187580
|
|
NM_003002.4(SDHD):c.331G>C (p.Val111Leu)
|
|
|
NM_003002.4(SDHD):c.332T>C (p.Val111Ala)
|
rs1592786183
|
|
NM_003002.4(SDHD):c.334A>G (p.Thr112Ala)
|
rs1865809730
|
|
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
|
|
|
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)
|
rs1555187583
|
|
NM_003002.4(SDHD):c.337G>C (p.Asp113His)
|
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.338A>G (p.Asp113Gly)
|
rs786202513
|
|
NM_003002.4(SDHD):c.338A>T (p.Asp113Val)
|
rs786202513
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)
|
rs876659276
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
|
|
|
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)
|
rs1050032491
|
|
NM_003002.4(SDHD):c.346C>T (p.His116Tyr)
|
rs2135277443
|
|
NM_003002.4(SDHD):c.347A>T (p.His116Leu)
|
rs2135277447
|
|
NM_003002.4(SDHD):c.348T>C (p.His116=)
|
rs2135277453
|
|
NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)
|
|
|
NM_003002.4(SDHD):c.351G>T (p.Gly117=)
|
rs1566702512
|
|
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn)
|
rs1865810526
|
|
NM_003002.4(SDHD):c.352_353delinsAT (p.Asp118Ile)
|
|
|
NM_003002.4(SDHD):c.352del (p.Asp118fs)
|
rs1131691064
|
|
NM_003002.4(SDHD):c.353A>C (p.Asp118Ala)
|
|
|
NM_003002.4(SDHD):c.354T>C (p.Asp118=)
|
rs911663426
|
|
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)
|
rs911663426
|
|
NM_003002.4(SDHD):c.355G>T (p.Ala119Ser)
|
rs930768406
|
|
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)
|
rs758784300
|
|
NM_003002.4(SDHD):c.357C>T (p.Ala119=)
|
rs2135277494
|
|
NM_003002.4(SDHD):c.35G>T (p.Gly12Val)
|
rs764384503
|
|
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.363G>A (p.Gln121=)
|
rs2135277509
|
|
NM_003002.4(SDHD):c.365A>G (p.Lys122Arg)
|
|
|
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.370G>A (p.Ala124Thr)
|
rs1865811145
|
|
NM_003002.4(SDHD):c.370G>T (p.Ala124Ser)
|
|
|
NM_003002.4(SDHD):c.371C>T (p.Ala124Val)
|
rs1865811210
|
|
NM_003002.4(SDHD):c.372C>G (p.Ala124=)
|
rs2135277535
|
|
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)
|
rs1592786256
|
|
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
|
|
|
NM_003002.4(SDHD):c.376G>A (p.Ala126Thr)
|
rs1592786265
|
|
NM_003002.4(SDHD):c.376G>T (p.Ala126Ser)
|
|
|
NM_003002.4(SDHD):c.377C>T (p.Ala126Val)
|
|
|
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
|
|
|
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr)
|
rs940936212
|
|
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser)
|
rs940936212
|
|
NM_003002.4(SDHD):c.380G>A (p.Gly127Glu)
|
|
|
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
|
|
|
NM_003002.4(SDHD):c.381del (p.Leu128fs)
|
rs1555187601
|
|
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser)
|
rs201726097
|
|
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp)
|
rs201726097
|
|
NM_003002.4(SDHD):c.388G>T (p.Ala130Ser)
|
rs1312671864
|
|
NM_003002.4(SDHD):c.388dup (p.Ala130fs)
|
rs1131691063
|
|
NM_003002.4(SDHD):c.389C>G (p.Ala130Gly)
|
rs1049692537
|
|
NM_003002.4(SDHD):c.389C>T (p.Ala130Val)
|
|
|
NM_003002.4(SDHD):c.38C>G (p.Ala13Gly)
|
rs750080041
|
|
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
|
|
|
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
|
|
|
NM_003002.4(SDHD):c.394T>G (p.Ser132Ala)
|
rs2135277611
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.396A>C (p.Ser132=)
|
rs2135277619
|
|
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr)
|
rs1060503774
|
|
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro)
|
rs1060503774
|
|
NM_003002.4(SDHD):c.398C>G (p.Ala133Gly)
|
|
|
NM_003002.4(SDHD):c.39C>T (p.Ala13=)
|
rs1566690237
|
|
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.404C>T (p.Thr135Ile)
|
rs2135277637
|
|
NM_003002.4(SDHD):c.405C>T (p.Thr135=)
|
rs1555187606
|
|
NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)
|
|
|
NM_003002.4(SDHD):c.409G>A (p.Ala137Thr)
|
rs1555187611
|
|
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro)
|
rs1555187611
|
|
NM_003002.4(SDHD):c.40C>T (p.Leu14=)
|
rs1060503772
|
|
NM_003002.4(SDHD):c.410C>T (p.Ala137Val)
|
rs749250498
|
|
NM_003002.4(SDHD):c.411T>C (p.Ala137=)
|
rs1298909305
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.414G>A (p.Gly138=)
|
rs1174448545
|
|
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
|
rs80338847
|
|
NM_003002.4(SDHD):c.419G>A (p.Cys140Tyr)
|
rs2135277691
|
|
NM_003002.4(SDHD):c.426C>G (p.Phe142Leu)
|
rs2135277712
|
|
NM_003002.4(SDHD):c.427A>C (p.Asn143His)
|
|
|
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)
|
rs1865812863
|
|
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.430_435del (p.Tyr144_His145del)
|
|
|
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)
|
rs745732631
|
|
NM_003002.4(SDHD):c.433C>T (p.His145Tyr)
|
|
|
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.436G>T (p.Asp146Tyr)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.439G>A (p.Val147Met)
|
rs1865813583
|
|
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
|
rs1476121898
|
|
NM_003002.4(SDHD):c.443G>A (p.Gly148Asp)
|
|
|
NM_003002.4(SDHD):c.445A>G (p.Ile149Val)
|
rs1865813813
|
|
NM_003002.4(SDHD):c.446T>G (p.Ile149Ser)
|
rs1295620545
|
|
NM_003002.4(SDHD):c.449G>C (p.Cys150Ser)
|
|
|
NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)
|
|
|
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)
|
rs1865621392
|
|
NM_003002.4(SDHD):c.44_52+24del
|
rs1865621296
|
|
NM_003002.4(SDHD):c.450C>T (p.Cys150=)
|
rs201337439
|
|
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn)
|
rs761953172
|
|
NM_003002.4(SDHD):c.454G>A (p.Ala152Thr)
|
rs1865814160
|
|
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
|
rs1592786423
|
|
NM_003002.4(SDHD):c.458T>C (p.Val153Ala)
|
rs1555187644
|
|
NM_003002.4(SDHD):c.45A>T (p.Gly15=)
|
rs2135264801
|
|
NM_003002.4(SDHD):c.461C>T (p.Ala154Val)
|
|
|
NM_003002.4(SDHD):c.463A>G (p.Met155Val)
|
rs2135277828
|
|
NM_003002.4(SDHD):c.464T>C (p.Met155Thr)
|
|
|
NM_003002.4(SDHD):c.466C>G (p.Leu156Val)
|
|
|
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.46G>C (p.Gly16Arg)
|
rs1555186687
|
|
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys)
|
rs1555186687
|
|
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)
|
rs878854596
|
|
NM_003002.4(SDHD):c.474G>T (p.Lys158Asn)
|
rs1377208267
|
|
NM_003002.4(SDHD):c.474_475delinsTT (p.Lys158_Leu159delinsAsnPhe)
|
|
|
NM_003002.4(SDHD):c.476T>C (p.Leu159Pro)
|
rs2135277858
|
|
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
|
|
|
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg)
|
rs1555187655
|
|
NM_003002.4(SDHD):c.478T>G (p.Ter160Gly)
|
|
|
NM_003002.4(SDHD):c.479G>A (p.Ter160=)
|
rs201372601
|
|
NM_003002.4(SDHD):c.479G>C (p.Ter160Ser)
|
|
|
NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)
|
|
|
NM_003002.4(SDHD):c.47G>T (p.Gly16Val)
|
|
|
NM_003002.4(SDHD):c.480A>G (p.Ter160Trp)
|
rs587778663
|
|
NM_003002.4(SDHD):c.480A>T (p.Ter160Cys)
|
|
|
NM_003002.4(SDHD):c.48C>T (p.Gly16=)
|
rs1555186688
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)
|
rs1401420432
|
|
NM_003002.4(SDHD):c.50G>A (p.Arg17Gln)
|
rs1865621723
|
|
NM_003002.4(SDHD):c.51A>C (p.Arg17=)
|
rs199890548
|
|
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+1G>A
|
rs1592777386
|
|
NM_003002.4(SDHD):c.52+1_52+2delinsAA
|
|
|
NM_003002.4(SDHD):c.52+20T>C
|
|
|
NM_003002.4(SDHD):c.52+2T>C
|
rs587776644
|
|
NM_003002.4(SDHD):c.52+5G>A
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+5G>C
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+6G>A
|
rs1416678757
|
|
NM_003002.4(SDHD):c.52+7G>C
|
rs2135264872
|
|
NM_003002.4(SDHD):c.52+8del
|
rs2135264855
|
|
NM_003002.4(SDHD):c.52+8dup
|
rs2135264855
|
|
NM_003002.4(SDHD):c.53-10_53-9del
|
|
|
NM_003002.4(SDHD):c.53-11T>C
|
|
|
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.53-16A>G
|
rs915385437
|
|
NM_003002.4(SDHD):c.53-17A>G
|
rs1166658454
|
|
NM_003002.4(SDHD):c.53-18T>C
|
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
NM_003002.4(SDHD):c.53-20C>T
|
|
|
NM_003002.4(SDHD):c.53-2A>C
|
|
|
NM_003002.4(SDHD):c.53-3C>T
|
|
|
NM_003002.4(SDHD):c.53-52_53-49del
|
rs562618773
|
|
NM_003002.4(SDHD):c.53-5C>T
|
rs913670110
|
|
NM_003002.4(SDHD):c.53-6C>A
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-6C>T
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-7T>C
|
|
|
NM_003002.4(SDHD):c.53-7_53-3del
|
rs1865650219
|
|
NM_003002.4(SDHD):c.53-8_53-7del
|
rs765322445
|
|
NM_003002.4(SDHD):c.53-9_53-6del
|
rs1592778629
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003002.4(SDHD):c.57G>A (p.Leu19=)
|
rs560625389
|
|
NM_003002.4(SDHD):c.57del (p.Leu20fs)
|
rs587776649
|
|
NM_003002.4(SDHD):c.58T>A (p.Leu20Met)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.58T>C (p.Leu20=)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly)
|
rs1440670464
|
|
NM_003002.4(SDHD):c.60G>A (p.Leu20=)
|
rs2135266996
|
|
NM_003002.4(SDHD):c.61C>T (p.Leu21Phe)
|
rs1592778703
|
|
NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)
|
|
|
NM_003002.4(SDHD):c.64C>A (p.Arg22=)
|
rs104894306
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003002.4(SDHD):c.65G>A (p.Arg22Gln)
|
rs1555186772
|
|
NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)
|
|
|
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.70C>T (p.Pro24Ser)
|
rs775986509
|
|
NM_003002.4(SDHD):c.71C>T (p.Pro24Leu)
|
rs1865651909
|
|
NM_003002.4(SDHD):c.72A>C (p.Pro24=)
|
rs1413100881
|
|
NM_003002.4(SDHD):c.73G>T (p.Val25Leu)
|
rs878854597
|
|
NM_003002.4(SDHD):c.75G>A (p.Val25=)
|
|
|
NM_003002.4(SDHD):c.78C>T (p.Val26=)
|
|
|
NM_003002.4(SDHD):c.7G>A (p.Val3Ile)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>C (p.Val3Leu)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>T (p.Val3Phe)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala)
|
rs541477171
|
|
NM_003002.4(SDHD):c.83C>A (p.Pro28His)
|
rs2135267114
|
|
NM_003002.4(SDHD):c.84T>C (p.Pro28=)
|
rs2135267119
|
|
NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)
|
|
|
NM_003002.4(SDHD):c.86C>T (p.Ala29Val)
|
rs1555186774
|
|
NM_003002.4(SDHD):c.90T>C (p.His30=)
|
|
|
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)
|
rs1865653068
|
|
NM_003002.4(SDHD):c.93C>G (p.Ile31Met)
|
|
|
NM_003002.4(SDHD):c.93C>T (p.Ile31=)
|
rs766096986
|
|
NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)
|
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_003002.4(SDHD):c.95C>T (p.Ser32Leu)
|
rs104894305
|
|
NM_003002.4(SDHD):c.97G>A (p.Ala33Thr)
|
rs2135267174
|
|
NM_003002.4(SDHD):c.98C>A (p.Ala33Glu)
|
|
|
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.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.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.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.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
|
|
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
|
|
|
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
|
|
|
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
|
|
|
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
|
|
|
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
|
rs2060144762
|
|
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
|
|
|
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
|
|
|
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
|
|
|
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.1079del (p.Leu360fs)
|
rs1600244935
|
|
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+1G>C
|
|
|
NM_006363.6(SEC23B):c.1109+7T>C
|
|
|
NM_006363.6(SEC23B):c.1110-13dup
|
|
|
NM_006363.6(SEC23B):c.1110-20A>T
|
|
|
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
|
|
|
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
|
|
|
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
|
|
|
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.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
|
|
|
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.1233_1233+1dup
|
|
|
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.1243del (p.Glu415fs)
|
|
|
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
|
|
|
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.1314+1G>A
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
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.1402C>T (p.Gln468Ter)
|
|
|
NM_006363.6(SEC23B):c.1404+17C>T
|
|
|
NM_006363.6(SEC23B):c.1404+20A>G
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
NM_006363.6(SEC23B):c.1405-15C>T
|
|
|
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)
|
rs752548887
|
|
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.146C>T (p.Pro49Leu)
|
|
|
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
|
|
|
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
|
|
|
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
|
|
|
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
|
|
|
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.1511+2_1511+5del
|
|
|
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.1555T>C (p.Phe519Leu)
|
|
|
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
|
|
|
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
|
|
|
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
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.1637G>T (p.Arg546Leu)
|
|
|
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)
|
rs138623580
|
|
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
|
|
|
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
|
|
|
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.1660C>T (p.Arg554Ter)
|
|
|
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
|
|
|
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.1665+4A>G
|
|
|
NM_006363.6(SEC23B):c.1666-16T>G
|
|
|
NM_006363.6(SEC23B):c.1666-3T>C
|
|
|
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.1710dup (p.Arg571Ter)
|
|
|
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.1741C>T (p.Gln581Ter)
|
|
|
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.1744-17G>A
|
|
|
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.1831del (p.Arg611fs)
|
|
|
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
|
|
|
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
|
|
|
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
|
|
|
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+1G>A
|
|
|
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.1909del (p.Val637fs)
|
|
|
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.1989dup (p.Glu664Ter)
|
|
|
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.2011A>G (p.Lys671Glu)
|
|
|
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.208C>T (p.Leu70Phe)
|
|
|
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
|
|
|
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
|
|
|
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)
|
rs2059977897
|
|
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.2152C>T (p.Arg718Ter)
|
|
|
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.2190_2191dup (p.Asn731fs)
|
|
|
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)
|
rs1600281875
|
|
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
|
|
|
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+1G>A
|
|
|
NM_006363.6(SEC23B):c.221+31A>T
|
|
|
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
|
|
|
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.221G>A (p.Cys74Tyr)
|
|
|
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.2242G>A (p.Asp748Asn)
|
rs2122200225
|
|
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
|
|
|
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.2262del (p.Phe754fs)
|
|
|
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
|
|
|
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
|
|
|
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
|
|
|
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
|
|
|
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
|
|
|
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
|
|
|
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
|
|
|
NM_006363.6(SEC23B):c.279+13T>A
|
|
|
NM_006363.6(SEC23B):c.279+17T>A
|
|
|
NM_006363.6(SEC23B):c.279+1G>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.337del (p.Gln113fs)
|
|
|
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
|
|
|
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.366+1G>A
|
|
|
NM_006363.6(SEC23B):c.367-1G>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.490del (p.Val164fs)
|
|
|
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
|
|
|
NM_006363.6(SEC23B):c.528T>C (p.His176=)
|
|
|
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
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NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
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NM_006363.6(SEC23B):c.545del (p.Gly182fs)
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NM_006363.6(SEC23B):c.546A>T (p.Gly182=)
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rs1347919581
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NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
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NM_006363.6(SEC23B):c.564C>A (p.Val188=)
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NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
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NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
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NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
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NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)
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rs1555788144
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NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
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NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
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NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
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NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
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NM_006363.6(SEC23B):c.603+10T>C
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NM_006363.6(SEC23B):c.603+12A>G
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NM_006363.6(SEC23B):c.604-10T>G
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NM_006363.6(SEC23B):c.604-11_604-10insC
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NM_006363.6(SEC23B):c.604-19T>G
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NM_006363.6(SEC23B):c.604-20T>C
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NM_006363.6(SEC23B):c.604-4del
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NM_006363.6(SEC23B):c.604-4dup
|
rs750339397
|
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NM_006363.6(SEC23B):c.604-5_604-4dup
|
rs750339397
|
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NM_006363.6(SEC23B):c.604-6T>C
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NM_006363.6(SEC23B):c.604-6_604-4del
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NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
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NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
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NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
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NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
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NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
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NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
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NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
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NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
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NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
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NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
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NM_006363.6(SEC23B):c.689+14A>T
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NM_006363.6(SEC23B):c.689+19G>T
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NM_006363.6(SEC23B):c.689+1G>C
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NM_006363.6(SEC23B):c.689+1G>T
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NM_006363.6(SEC23B):c.689+7G>T
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NM_006363.6(SEC23B):c.689+8C>T
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NM_006363.6(SEC23B):c.689+9C>A
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NM_006363.6(SEC23B):c.690-17C>T
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NM_006363.6(SEC23B):c.690-4_690-3dup
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NM_006363.6(SEC23B):c.690-7C>G
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NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
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NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
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NM_006363.6(SEC23B):c.708C>T (p.His236=)
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NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
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NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
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NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
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|
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
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NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
|
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NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
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NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
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NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
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NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
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NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
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NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
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NM_006363.6(SEC23B):c.816del (p.Ile272fs)
|
rs1568606490
|
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NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
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NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)
|
rs747388303
|
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NM_006363.6(SEC23B):c.834+14T>C
|
rs2148899499
|
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NM_006363.6(SEC23B):c.834+17C>G
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NM_006363.6(SEC23B):c.834+17C>T
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NM_006363.6(SEC23B):c.835-10G>A
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NM_006363.6(SEC23B):c.835-2A>G
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NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
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NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
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NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
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NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
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NM_006363.6(SEC23B):c.873del (p.Phe291fs)
|
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NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
|
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NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
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NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
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NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
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NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
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NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
|
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NM_006363.6(SEC23B):c.912T>A (p.Val304=)
|
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NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
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NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
|
|
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NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
|
|
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NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
|
|
|
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.983dup (p.Ala329fs)
|
|
|
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
|
|
|
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=)
|
|
|
Single allele
|
|
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