NM_000548.5(TSC2):c.1716+183A>G
|
rs8063461
|
0.57327
|
NM_000548.5(TSC2):c.1120-93T>C
|
rs17135764
|
0.56219
|
NM_000548.5(TSC2):c.976-100C>G
|
rs2074968
|
0.53103
|
NM_000548.5(TSC2):c.1717-55T>C
|
rs7187438
|
0.43502
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_000548.5(TSC2):c.3883+226G>A
|
rs9928737
|
0.23115
|
NM_000548.5(TSC2):c.2546-12C>T
|
rs13331451
|
0.21707
|
NM_000548.5(TSC2):c.5260-49C>T
|
rs13332221
|
0.19533
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_000548.5(TSC2):c.2098-114A>G
|
rs6600185
|
0.11178
|
NM_000548.5(TSC2):c.2838-282A>C
|
rs13339195
|
0.11172
|
NM_000548.5(TSC2):c.2221-28A>G
|
rs7196184
|
0.11019
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000548.5(TSC2):c.1599+216T>G
|
rs17654678
|
0.07581
|
NM_000548.5(TSC2):c.1600-39C>T
|
rs45477195
|
0.07469
|
NM_000548.5(TSC2):c.2967-118T>C
|
rs9925571
|
0.06490
|
NM_000548.5(TSC2):c.4005+84C>T
|
rs30259
|
0.06389
|
NM_000548.5(TSC2):c.2545+157G>C
|
rs9941195
|
0.05744
|
NM_000548.5(TSC2):c.2545+240C>T
|
rs9921591
|
0.05743
|
NM_000548.5(TSC2):c.2966+121C>G
|
rs74002771
|
0.05716
|
NM_000548.5(TSC2):c.4849+97del
|
rs142421783
|
0.05406
|
NM_000548.5(TSC2):c.1716+221T>C
|
rs13331020
|
0.05383
|
NM_000548.5(TSC2):c.3397+126C>T
|
rs115243225
|
0.05167
|
NM_000548.5(TSC2):c.3884-56C>G
|
rs1800724
|
0.05069
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_000548.5(TSC2):c.3610+168G>A
|
rs9922898
|
0.04781
|
NM_000548.5(TSC2):c.976-63G>A
|
rs12927333
|
0.04770
|
NM_000548.5(TSC2):c.2220+182C>T
|
rs12325450
|
0.04249
|
NM_000548.5(TSC2):c.3610+42dup
|
rs397515119
|
0.04010
|
NM_000548.5(TSC2):c.*26G>A
|
rs13332015
|
0.03592
|
NM_000548.5(TSC2):c.2545+194A>G
|
rs7185909
|
0.03274
|
NM_000548.5(TSC2):c.226-338C>T
|
rs2516735
|
0.03209
|
NM_000548.5(TSC2):c.1600-310C>T
|
rs146267799
|
0.03173
|
NM_000548.5(TSC2):c.2838-372C>T
|
rs61260040
|
0.03117
|
NM_000548.5(TSC2):c.3883+78G>A
|
rs1800705
|
0.02672
|
NM_000548.5(TSC2):c.3398-140C>T
|
rs56725934
|
0.02621
|
NM_000548.5(TSC2):c.2355+214G>T
|
rs117996133
|
0.02481
|
NM_000548.5(TSC2):c.3610+262A>G
|
rs60906239
|
0.02287
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_000548.5(TSC2):c.1443+256G>A
|
rs114236708
|
0.02214
|
NM_000548.5(TSC2):c.3814+141C>T
|
rs7196774
|
0.02143
|
NM_000548.5(TSC2):c.4989+107A>C
|
rs114989209
|
0.01932
|
NM_000548.5(TSC2):c.2966+217G>T
|
rs118124428
|
0.01902
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000548.5(TSC2):c.482-114T>C
|
rs77037371
|
0.01383
|
NM_000548.5(TSC2):c.3815-155A>G
|
rs187607083
|
0.01319
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000548.5(TSC2):c.848+276C>G
|
rs60154230
|
0.01237
|
NM_000548.5(TSC2):c.849-323G>A
|
rs113694289
|
0.01233
|
NM_000548.5(TSC2):c.3883+66G>A
|
rs74002774
|
0.01226
|
NM_000548.5(TSC2):c.4849+76G>A
|
rs144647393
|
0.01219
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000548.5(TSC2):c.2355+166C>T
|
rs116671341
|
0.01177
|
NM_000548.5(TSC2):c.848+113A>G
|
rs56077830
|
0.01171
|
NM_000548.5(TSC2):c.1599+162C>T
|
rs74819416
|
0.01165
|
NM_000548.5(TSC2):c.336+233T>C
|
rs144712953
|
0.01042
|
NM_000548.5(TSC2):c.2546-31G>A
|
rs145738496
|
0.01027
|
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)
|
rs45517384
|
0.01015
|
NM_000548.5(TSC2):c.3610+171A>G
|
rs138163125
|
0.00985
|
NM_000548.5(TSC2):c.1444-100A>G
|
rs114861515
|
0.00958
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_000548.5(TSC2):c.2967-165T>A
|
rs77735328
|
0.00940
|
NM_000548.5(TSC2):c.226-82C>T
|
rs7185742
|
0.00934
|
NM_000548.5(TSC2):c.2097+43A>G
|
rs186681035
|
0.00912
|
NM_000548.5(TSC2):c.1444-283G>A
|
rs575523507
|
0.00907
|
NM_000548.5(TSC2):c.4569+44C>T
|
rs142227748
|
0.00905
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_000548.5(TSC2):c.2356-176G>T
|
rs116444190
|
0.00881
|
NM_000548.5(TSC2):c.1443+255C>T
|
rs116134738
|
0.00875
|
NM_000548.5(TSC2):c.3610+266C>T
|
rs184695141
|
0.00841
|
NM_000548.5(TSC2):c.2967-304G>A
|
rs77620349
|
0.00833
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00823
|
NM_000548.5(TSC2):c.3610+264G>A
|
rs143022087
|
0.00790
|
NM_000548.5(TSC2):c.3397+161G>A
|
rs191264187
|
0.00780
|
NM_000548.5(TSC2):c.4006-94G>A
|
rs145263137
|
0.00760
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_000548.5(TSC2):c.600-84C>T
|
rs35364892
|
0.00754
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
NM_000548.5(TSC2):c.1444-232C>T
|
rs4335770
|
0.00748
|
NM_000548.5(TSC2):c.3815-58C>T
|
rs145101905
|
0.00697
|
NM_000548.5(TSC2):c.599+327G>A
|
rs28735816
|
0.00689
|
NM_000548.5(TSC2):c.1717-67A>G
|
rs182404389
|
0.00623
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_000548.5(TSC2):c.2743-40A>G
|
rs45517265
|
0.00586
|
NM_000548.5(TSC2):c.1839+248C>T
|
rs142694430
|
0.00582
|
NM_000548.5(TSC2):c.2545+31C>T
|
rs45517243
|
0.00548
|
NM_000548.5(TSC2):c.2837+286T>G
|
rs189502160
|
0.00539
|
NM_000548.5(TSC2):c.1444-151C>T
|
rs116269447
|
0.00532
|
NM_000548.5(TSC2):c.138+211T>C
|
rs3211962
|
0.00504
|
NM_000548.5(TSC2):c.1716+82T>C
|
rs144949495
|
0.00502
|
NM_000548.5(TSC2):c.2355+153A>G
|
rs114648999
|
0.00498
|
NM_000548.5(TSC2):c.1361+16T>G
|
rs45502491
|
0.00476
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_000548.5(TSC2):c.2640-65C>T
|
rs138967036
|
0.00463
|
NM_000548.5(TSC2):c.2967-185C>T
|
rs114526593
|
0.00463
|
NM_000548.5(TSC2):c.1600-238C>T
|
rs139061979
|
0.00456
|
NM_000548.5(TSC2):c.336+32C>T
|
rs45517103
|
0.00456
|
NM_000548.5(TSC2):c.599+241G>T
|
rs534820975
|
0.00450
|
NM_000548.5(TSC2):c.138+263C>A
|
rs147607620
|
0.00436
|
NM_000548.5(TSC2):c.3815-308T>C
|
rs186379642
|
0.00432
|
NM_000548.5(TSC2):c.976-44G>A
|
rs188449241
|
0.00431
|
NM_000548.5(TSC2):c.3884-68C>T
|
rs114209035
|
0.00430
|
NM_000548.5(TSC2):c.2837+251G>A
|
rs185041572
|
0.00424
|
NM_000548.5(TSC2):c.3610+214C>T
|
rs189844584
|
0.00419
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
NM_000548.5(TSC2):c.2220+25G>C
|
rs149860839
|
0.00414
|
NM_000548.5(TSC2):c.2097+48G>T
|
rs190309164
|
0.00411
|
NM_000548.5(TSC2):c.1119+233C>T
|
rs139167052
|
0.00407
|
NM_000548.5(TSC2):c.649-198A>G
|
rs187353366
|
0.00401
|
NM_000548.5(TSC2):c.2545+135C>T
|
rs139579913
|
0.00387
|
NM_000548.5(TSC2):c.3132-30A>G
|
rs45517283
|
0.00386
|
NM_000548.5(TSC2):c.2640-26G>T
|
rs45483797
|
0.00380
|
NM_000548.5(TSC2):c.1443+18C>T
|
rs375947241
|
0.00379
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00379
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
NM_000548.5(TSC2):c.848+7G>A
|
rs45442896
|
0.00376
|
NM_000548.5(TSC2):c.1600-64T>G
|
rs553684075
|
0.00372
|
NM_000548.5(TSC2):c.139-160A>G
|
rs529566060
|
0.00371
|
NM_000548.5(TSC2):c.482-268G>A
|
rs141986802
|
0.00367
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_000548.5(TSC2):c.975+214T>C
|
rs183097117
|
0.00360
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_000548.5(TSC2):c.1361+18G>C
|
rs140223009
|
0.00350
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_000548.5(TSC2):c.648+162C>T
|
rs573404958
|
0.00330
|
NM_000548.5(TSC2):c.2966+247G>A
|
rs531503301
|
0.00315
|
NM_000548.5(TSC2):c.3397+56C>T
|
rs533389245
|
0.00310
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_000548.5(TSC2):c.3611-59G>A
|
rs189285826
|
0.00302
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000548.5(TSC2):c.*35G>A
|
rs200025534
|
0.00226
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_000548.5(TSC2):c.*71C>T
|
rs45498900
|
0.00205
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000548.5(TSC2):c.3815-15G>A
|
rs45480591
|
0.00149
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
NM_000548.5(TSC2):c.5161-9C>T
|
rs45515893
|
0.00094
|
NM_000548.5(TSC2):c.600-180C>A
|
rs537423263
|
0.00093
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00084
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00067
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_000548.5(TSC2):c.5068+40G>A
|
rs185211341
|
0.00061
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
NM_000548.5(TSC2):c.3131+34C>T
|
rs45487103
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.975+13C>T
|
rs200564575
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_000548.5(TSC2):c.1821G>A (p.Ala607=)
|
rs149543046
|
0.00050
|
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
|
rs137854214
|
0.00048
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000548.5(TSC2):c.2073C>T (p.Arg691=)
|
rs45512398
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_000548.5(TSC2):c.138+20C>G
|
rs45517092
|
0.00041
|
NM_000548.5(TSC2):c.2296G>A (p.Val766Met)
|
rs150672640
|
0.00041
|
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=)
|
rs150239180
|
0.00041
|
NM_000548.5(TSC2):c.1717-30G>A
|
rs45500703
|
0.00038
|
NM_000548.5(TSC2):c.3883+37C>T
|
rs45517315
|
0.00038
|
NM_000548.5(TSC2):c.482-27C>T
|
rs200473689
|
0.00037
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=)
|
rs371541319
|
0.00032
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00030
|
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=)
|
rs139507276
|
0.00029
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00028
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_000548.5(TSC2):c.1120-17C>T
|
rs201704675
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=)
|
rs139630605
|
0.00025
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_000548.5(TSC2):c.5244G>A (p.Lys1748=)
|
rs150038278
|
0.00024
|
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=)
|
rs45517381
|
0.00023
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr)
|
rs146239734
|
0.00022
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)
|
rs373968155
|
0.00021
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00019
|
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)
|
rs147284943
|
0.00019
|
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)
|
rs144965811
|
0.00019
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_000548.5(TSC2):c.3942C>T (p.Pro1314=)
|
rs759988275
|
0.00018
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00018
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
NM_000548.5(TSC2):c.4493+18G>A
|
rs45454201
|
0.00017
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000548.5(TSC2):c.2356-15T>A
|
rs189674303
|
0.00016
|
NM_000548.5(TSC2):c.2622G>A (p.Pro874=)
|
rs141486629
|
0.00016
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=)
|
rs141252704
|
0.00016
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00016
|
NM_000548.5(TSC2):c.649-9C>G
|
rs781099543
|
0.00016
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)
|
rs137854215
|
0.00015
|
NM_000548.5(TSC2):c.2743-7C>G
|
rs566118686
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
NM_000548.5(TSC2):c.1362-10C>T
|
rs45446697
|
0.00014
|
NM_000548.5(TSC2):c.1947-3C>T
|
rs201106259
|
0.00014
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=)
|
rs200346578
|
0.00014
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=)
|
rs376086638
|
0.00013
|
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly)
|
rs199644840
|
0.00013
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00012
|
NM_000548.5(TSC2):c.2546-5C>T
|
rs45517247
|
0.00012
|
NM_000548.5(TSC2):c.3611-4G>A
|
rs368926908
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)
|
rs142848358
|
0.00012
|
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=)
|
rs147242130
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)
|
rs45478595
|
0.00011
|
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=)
|
rs374146919
|
0.00011
|
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)
|
rs768684515
|
0.00011
|
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
NM_000548.5(TSC2):c.5069-21G>A
|
rs45517390
|
0.00011
|
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)
|
rs367703283
|
0.00011
|
NM_000548.5(TSC2):c.*5G>A
|
rs201342697
|
0.00010
|
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
|
rs139753238
|
0.00010
|
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)
|
rs144062721
|
0.00010
|
NM_000548.5(TSC2):c.1203C>T (p.His401=)
|
rs199665674
|
0.00009
|
NM_000548.5(TSC2):c.2743-9C>T
|
rs397515319
|
0.00009
|
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=)
|
rs369943684
|
0.00009
|
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=)
|
rs45468491
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_000548.5(TSC2):c.*12T>G
|
rs544055911
|
0.00008
|
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)
|
rs45517188
|
0.00008
|
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe)
|
rs140772300
|
0.00008
|
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)
|
rs776738338
|
0.00008
|
NM_000548.5(TSC2):c.4569+12C>T
|
rs45517350
|
0.00008
|
NM_000548.5(TSC2):c.4662+18G>A
|
rs45517357
|
0.00008
|
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00008
|
NM_000548.5(TSC2):c.*7G>A
|
rs765016970
|
0.00007
|
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=)
|
rs181279399
|
0.00007
|
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=)
|
rs760704956
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000548.5(TSC2):c.4558C>T (p.Leu1520=)
|
rs374687688
|
0.00007
|
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=)
|
rs556045045
|
0.00007
|
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=)
|
rs370770569
|
0.00007
|
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=)
|
rs371580877
|
0.00007
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
NM_000548.5(TSC2):c.630G>A (p.Ala210=)
|
rs567756494
|
0.00007
|
NM_000548.5(TSC2):c.1341G>A (p.Ala447=)
|
rs141609319
|
0.00006
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00006
|
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile)
|
rs146745242
|
0.00006
|
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)
|
rs557648435
|
0.00006
|
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu)
|
rs1053311636
|
0.00006
|
NM_000548.5(TSC2):c.363C>T (p.Ala121=)
|
rs45517106
|
0.00006
|
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=)
|
rs144891432
|
0.00006
|
NM_000548.5(TSC2):c.3883+6G>A
|
rs757751865
|
0.00006
|
NM_000548.5(TSC2):c.4533C>T (p.Gly1511=)
|
rs201126835
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=)
|
rs141449031
|
0.00006
|
NM_000548.5(TSC2):c.5319T>C (p.His1773=)
|
rs536518032
|
0.00006
|
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
|
rs200140994
|
0.00006
|
NM_000548.5(TSC2):c.618C>T (p.Cys206=)
|
rs45498496
|
0.00006
|
NM_000548.5(TSC2):c.648+6T>C
|
rs372007135
|
0.00006
|
NM_000548.5(TSC2):c.708C>T (p.Leu236=)
|
rs756121647
|
0.00006
|
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)
|
rs45517130
|
0.00006
|
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)
|
rs45517162
|
0.00005
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00005
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu)
|
rs368285556
|
0.00005
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln)
|
rs397515046
|
0.00005
|
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)
|
rs777089012
|
0.00005
|
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)
|
rs397515062
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000548.5(TSC2):c.4610T>C (p.Ile1537Thr)
|
rs760056622
|
0.00005
|
NM_000548.5(TSC2):c.4849+12C>T
|
rs45517373
|
0.00005
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
0.00005
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
NM_000548.5(TSC2):c.669C>T (p.Asp223=)
|
rs35501344
|
0.00005
|
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)
|
rs587778728
|
0.00004
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00004
|
NM_000548.5(TSC2):c.1365C>T (p.Ser455=)
|
rs34567401
|
0.00004
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
0.00004
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00004
|
NM_000548.5(TSC2):c.1752G>A (p.Thr584=)
|
rs141285742
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
NM_000548.5(TSC2):c.2049C>T (p.Ser683=)
|
rs569518378
|
0.00004
|
NM_000548.5(TSC2):c.2163G>A (p.Val721=)
|
rs552644975
|
0.00004
|
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr)
|
rs375809212
|
0.00004
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
NM_000548.5(TSC2):c.2583C>T (p.Ala861=)
|
rs144924053
|
0.00004
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00004
|
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)
|
rs145258407
|
0.00004
|
NM_000548.5(TSC2):c.2742+6C>T
|
rs377568673
|
0.00004
|
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys)
|
rs45517268
|
0.00004
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)
|
rs372321790
|
0.00004
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
NM_000548.5(TSC2):c.2967-6C>T
|
rs200746335
|
0.00004
|
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=)
|
rs373950550
|
0.00004
|
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys)
|
rs201670791
|
0.00004
|
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=)
|
rs374145104
|
0.00004
|
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)
|
rs587781774
|
0.00004
|
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)
|
rs369536711
|
0.00004
|
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)
|
rs397514945
|
0.00004
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00004
|
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val)
|
rs773951533
|
0.00004
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
NM_000548.5(TSC2):c.3981C>T (p.Asp1327=)
|
rs876659087
|
0.00004
|
NM_000548.5(TSC2):c.4038G>A (p.Ser1346=)
|
rs756763596
|
0.00004
|
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=)
|
rs749358180
|
0.00004
|
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=)
|
rs373973956
|
0.00004
|
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=)
|
rs779122170
|
0.00004
|
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)
|
rs528080018
|
0.00004
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00004
|
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)
|
rs45444196
|
0.00004
|
NM_000548.5(TSC2):c.4662+11G>A
|
rs761569930
|
0.00004
|
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=)
|
rs769246304
|
0.00004
|
NM_000548.5(TSC2):c.4990-3C>T
|
rs777928103
|
0.00004
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=)
|
rs45467993
|
0.00004
|
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=)
|
rs1168265181
|
0.00004
|
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=)
|
rs760978505
|
0.00004
|
NM_000548.5(TSC2):c.5161-20C>T
|
rs200315428
|
0.00004
|
NM_000548.5(TSC2):c.5161-4C>G
|
rs45517406
|
0.00004
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
|
rs766093661
|
0.00004
|
NM_000548.5(TSC2):c.5307C>T (p.His1769=)
|
rs562220073
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=)
|
rs765607686
|
0.00004
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)
|
rs778395191
|
0.00004
|
NM_000548.5(TSC2):c.759C>T (p.Cys253=)
|
rs45517125
|
0.00004
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00004
|
NM_000548.5(TSC2):c.975+8G>A
|
rs137853984
|
0.00004
|
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)
|
rs140910086
|
0.00004
|
NM_000548.5(TSC2):c.1029C>A (p.Thr343=)
|
rs45468201
|
0.00003
|
NM_000548.5(TSC2):c.108G>A (p.Thr36=)
|
rs781075483
|
0.00003
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00003
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00003
|
NM_000548.5(TSC2):c.1317C>T (p.Asp439=)
|
rs777457815
|
0.00003
|
NM_000548.5(TSC2):c.1332C>T (p.Asn444=)
|
rs535984356
|
0.00003
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
NM_000548.5(TSC2):c.1642A>C (p.Arg548=)
|
rs565375272
|
0.00003
|
NM_000548.5(TSC2):c.1751C>T (p.Thr584Met)
|
rs751147419
|
0.00003
|
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)
|
rs370324876
|
0.00003
|
NM_000548.5(TSC2):c.1840-11C>G
|
rs754804519
|
0.00003
|
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)
|
rs45517206
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe)
|
rs747516623
|
0.00003
|
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val)
|
rs745897413
|
0.00003
|
NM_000548.5(TSC2):c.2019G>A (p.Ala673=)
|
rs772993105
|
0.00003
|
NM_000548.5(TSC2):c.201C>T (p.Val67=)
|
rs45460096
|
0.00003
|
NM_000548.5(TSC2):c.2034C>T (p.Ala678=)
|
rs781740263
|
0.00003
|
NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln)
|
rs756536921
|
0.00003
|
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)
|
rs370553131
|
0.00003
|
NM_000548.5(TSC2):c.2098-13C>T
|
rs375903453
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.2220+11C>T
|
rs372555496
|
0.00003
|
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val)
|
rs397514984
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.2511C>G (p.Ala837=)
|
rs145351030
|
0.00003
|
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser)
|
rs397515104
|
0.00003
|
NM_000548.5(TSC2):c.297C>T (p.His99=)
|
rs752498350
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=)
|
rs45471697
|
0.00003
|
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=)
|
rs144997264
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)
|
rs397514887
|
0.00003
|
NM_000548.5(TSC2):c.336+14C>T
|
rs570065416
|
0.00003
|
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln)
|
rs143168379
|
0.00003
|
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=)
|
rs549427685
|
0.00003
|
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=)
|
rs761232933
|
0.00003
|
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=)
|
rs1410559096
|
0.00003
|
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=)
|
rs137854268
|
0.00003
|
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=)
|
rs749057825
|
0.00003
|
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)
|
rs45508504
|
0.00003
|
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
NM_000548.5(TSC2):c.450G>A (p.Gly150=)
|
rs372000734
|
0.00003
|
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr)
|
rs1057522800
|
0.00003
|
NM_000548.5(TSC2):c.454C>G (p.His152Asp)
|
rs397515285
|
0.00003
|
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=)
|
rs368534883
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.4849+4C>T
|
rs370426490
|
0.00003
|
NM_000548.5(TSC2):c.4854C>T (p.Val1618=)
|
rs45517378
|
0.00003
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
NM_000548.5(TSC2):c.4960G>A (p.Gly1654Ser)
|
rs771911660
|
0.00003
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)
|
rs1200837034
|
0.00003
|
NM_000548.5(TSC2):c.5068+8C>T
|
rs747827911
|
0.00003
|
NM_000548.5(TSC2):c.5161-5C>A
|
rs775534948
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)
|
rs904411432
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)
|
rs45517113
|
0.00003
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
NM_000548.5(TSC2):c.672C>T (p.Ala224=)
|
rs138897064
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.711G>A (p.Pro237=)
|
rs189380607
|
0.00003
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00003
|
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)
|
rs1318274503
|
0.00003
|
NM_000548.5(TSC2):c.849-9dup
|
rs764626623
|
0.00003
|
NM_000548.5(TSC2):c.864C>T (p.Asp288=)
|
rs780887572
|
0.00003
|
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)
|
rs370403197
|
0.00002
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
NM_000548.5(TSC2):c.139-6C>T
|
rs778516569
|
0.00002
|
NM_000548.5(TSC2):c.1444-13T>C
|
rs45447093
|
0.00002
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
NM_000548.5(TSC2):c.1842C>G (p.Ala614=)
|
rs201575136
|
0.00002
|
NM_000548.5(TSC2):c.1883G>A (p.Arg628His)
|
rs774895427
|
0.00002
|
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)
|
rs753932484
|
0.00002
|
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)
|
rs1319342312
|
0.00002
|
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val)
|
rs754556513
|
0.00002
|
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)
|
rs201769220
|
0.00002
|
NM_000548.5(TSC2):c.2098-18C>T
|
rs1246072517
|
0.00002
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00002
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.226-13C>T
|
rs886038353
|
0.00002
|
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)
|
rs886042145
|
0.00002
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
NM_000548.5(TSC2):c.2412C>T (p.Cys804=)
|
rs763123951
|
0.00002
|
NM_000548.5(TSC2):c.2457C>T (p.Ile819=)
|
rs753410949
|
0.00002
|
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)
|
rs764608837
|
0.00002
|
NM_000548.5(TSC2):c.2628C>T (p.Thr876=)
|
rs778678783
|
0.00002
|
NM_000548.5(TSC2):c.2673C>T (p.His891=)
|
rs373866604
|
0.00002
|
NM_000548.5(TSC2):c.2694C>T (p.Ile898=)
|
rs200360213
|
0.00002
|
NM_000548.5(TSC2):c.270G>A (p.Gln90=)
|
rs779310889
|
0.00002
|
NM_000548.5(TSC2):c.2916C>A (p.Ala972=)
|
rs751474097
|
0.00002
|
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)
|
rs759786102
|
0.00002
|
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys)
|
rs763047420
|
0.00002
|
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
|
rs149808366
|
0.00002
|
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)
|
rs45514100
|
0.00002
|
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)
|
rs149098424
|
0.00002
|
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)
|
rs747104674
|
0.00002
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln)
|
rs746197874
|
0.00002
|
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)
|
rs749633483
|
0.00002
|
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)
|
rs778069675
|
0.00002
|
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp)
|
rs529298825
|
0.00002
|
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)
|
rs1326077397
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)
|
rs1060500939
|
0.00002
|
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr)
|
rs993614997
|
0.00002
|
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)
|
rs767059758
|
0.00002
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)
|
rs1020561347
|
0.00002
|
NM_000548.5(TSC2):c.3815-3C>T
|
rs770054036
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)
|
rs766771526
|
0.00002
|
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=)
|
rs757244510
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)
|
rs373982157
|
0.00002
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)
|
rs886051794
|
0.00002
|
NM_000548.5(TSC2):c.4253C>T (p.Ser1418Leu)
|
rs369164761
|
0.00002
|
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu)
|
rs45517335
|
0.00002
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)
|
rs45517339
|
0.00002
|
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)
|
rs1219556604
|
0.00002
|
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val)
|
rs764903148
|
0.00002
|
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)
|
rs768431568
|
0.00002
|
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)
|
rs151140709
|
0.00002
|
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)
|
rs1376515823
|
0.00002
|
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)
|
rs374066182
|
0.00002
|
NM_000548.5(TSC2):c.5154C>T (p.His1718=)
|
rs370338085
|
0.00002
|
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys)
|
rs781630603
|
0.00002
|
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)
|
rs373365980
|
0.00002
|
NM_000548.5(TSC2):c.5274C>T (p.Ala1758=)
|
rs752945858
|
0.00002
|
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr)
|
rs758450326
|
0.00002
|
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)
|
rs777006583
|
0.00002
|
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys)
|
rs777166275
|
0.00002
|
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)
|
rs45505405
|
0.00002
|
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)
|
rs200943828
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000548.5(TSC2):c.945G>A (p.Ser315=)
|
rs763948768
|
0.00002
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)
|
rs397515146
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)
|
rs757844109
|
0.00001
|
NM_000548.5(TSC2):c.1122C>G (p.Thr374=)
|
rs1555500988
|
0.00001
|
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
|
rs758511419
|
0.00001
|
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn)
|
rs1596303501
|
0.00001
|
NM_000548.5(TSC2):c.1194C>T (p.Asn398=)
|
rs369172347
|
0.00001
|
NM_000548.5(TSC2):c.1257+20G>A
|
rs1436234038
|
0.00001
|
NM_000548.5(TSC2):c.1258-18C>T
|
rs778741704
|
0.00001
|
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr)
|
rs1186443300
|
0.00001
|
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)
|
rs1413875392
|
0.00001
|
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)
|
rs749780677
|
0.00001
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
NM_000548.5(TSC2):c.1380C>T (p.Ala460=)
|
rs1060504113
|
0.00001
|
NM_000548.5(TSC2):c.1398G>A (p.Leu466=)
|
rs200702857
|
0.00001
|
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val)
|
rs1196710568
|
0.00001
|
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=)
|
rs45514794
|
0.00001
|
NM_000548.5(TSC2):c.1450C>T (p.Leu484=)
|
rs2087007486
|
0.00001
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)
|
rs772617064
|
0.00001
|
NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)
|
rs772834557
|
0.00001
|
NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg)
|
rs1378972928
|
0.00001
|
NM_000548.5(TSC2):c.1584G>A (p.Leu528=)
|
rs1478821497
|
0.00001
|
NM_000548.5(TSC2):c.1596G>A (p.Glu532=)
|
rs756466484
|
0.00001
|
NM_000548.5(TSC2):c.1610G>A (p.Arg537His)
|
rs372681603
|
0.00001
|
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe)
|
rs201334685
|
0.00001
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
NM_000548.5(TSC2):c.1653C>T (p.Ala551=)
|
rs202171361
|
0.00001
|
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)
|
rs777121421
|
0.00001
|
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)
|
rs45471596
|
0.00001
|
NM_000548.5(TSC2):c.1676A>T (p.Asp559Val)
|
rs767619776
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)
|
rs1430159201
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.1717-6C>T
|
rs1596335934
|
0.00001
|
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)
|
rs773304374
|
0.00001
|
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)
|
rs763863196
|
0.00001
|
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)
|
rs1015282988
|
0.00001
|
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)
|
rs910068556
|
0.00001
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.1840-13C>T
|
rs1186556063
|
0.00001
|
NM_000548.5(TSC2):c.1911C>T (p.Val637=)
|
rs543584836
|
0.00001
|
NM_000548.5(TSC2):c.1932C>T (p.Cys644=)
|
rs777665839
|
0.00001
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
NM_000548.5(TSC2):c.1946+5G>A
|
rs766646261
|
0.00001
|
NM_000548.5(TSC2):c.1946+6C>T
|
rs754069880
|
0.00001
|
NM_000548.5(TSC2):c.1947-9C>T
|
rs747475590
|
0.00001
|
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu)
|
rs1300730043
|
0.00001
|
NM_000548.5(TSC2):c.1983C>T (p.Gly661=)
|
rs1270679683
|
0.00001
|
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)
|
rs1262368552
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp)
|
rs876658578
|
0.00001
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)
|
rs878854080
|
0.00001
|
NM_000548.5(TSC2):c.2050G>A (p.Val684Met)
|
rs779275341
|
0.00001
|
NM_000548.5(TSC2):c.2097+5G>C
|
rs977777731
|
0.00001
|
NM_000548.5(TSC2):c.2098-12C>G
|
rs1460403520
|
0.00001
|
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)
|
rs1225700612
|
0.00001
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr)
|
rs757347786
|
0.00001
|
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)
|
rs377397369
|
0.00001
|
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)
|
rs749593050
|
0.00001
|
NM_000548.5(TSC2):c.2256C>T (p.Gly752=)
|
rs778981034
|
0.00001
|
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys)
|
rs45517223
|
0.00001
|
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)
|
rs758234726
|
0.00001
|
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala)
|
rs780682938
|
0.00001
|
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)
|
rs777459404
|
0.00001
|
NM_000548.5(TSC2):c.2322C>T (p.Ile774=)
|
rs760885994
|
0.00001
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
NM_000548.5(TSC2):c.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
NM_000548.5(TSC2):c.2356-4G>A
|
rs201156748
|
0.00001
|
NM_000548.5(TSC2):c.2357G>A (p.Arg786His)
|
rs796053511
|
0.00001
|
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala)
|
rs748669016
|
0.00001
|
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)
|
rs1366556255
|
0.00001
|
NM_000548.5(TSC2):c.2436C>T (p.Ser812=)
|
rs767178958
|
0.00001
|
NM_000548.5(TSC2):c.2454C>T (p.Ile818=)
|
rs786201599
|
0.00001
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
NM_000548.5(TSC2):c.2484G>A (p.Val828=)
|
rs780395534
|
0.00001
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
0.00001
|
NM_000548.5(TSC2):c.2546-10A>G
|
rs551894111
|
0.00001
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu)
|
rs1180511535
|
0.00001
|
NM_000548.5(TSC2):c.2562G>A (p.Pro854=)
|
rs779606786
|
0.00001
|
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)
|
rs1190158836
|
0.00001
|
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)
|
rs1369594860
|
0.00001
|
NM_000548.5(TSC2):c.2586G>A (p.Ala862=)
|
rs752865665
|
0.00001
|
NM_000548.5(TSC2):c.2592G>C (p.Gln864His)
|
rs763099064
|
0.00001
|
NM_000548.5(TSC2):c.2610C>T (p.Ala870=)
|
rs755870234
|
0.00001
|
NM_000548.5(TSC2):c.2631C>T (p.Asn877=)
|
rs45517251
|
0.00001
|
NM_000548.5(TSC2):c.2640-10C>G
|
rs964883731
|
0.00001
|
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val)
|
rs777282955
|
0.00001
|
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)
|
rs796053512
|
0.00001
|
NM_000548.5(TSC2):c.2719G>T (p.Asp907Tyr)
|
rs1287273870
|
0.00001
|
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)
|
rs774758044
|
0.00001
|
NM_000548.5(TSC2):c.273G>A (p.Pro91=)
|
rs772296140
|
0.00001
|
NM_000548.5(TSC2):c.2743-4C>T
|
rs1258692002
|
0.00001
|
NM_000548.5(TSC2):c.2748G>A (p.Leu916=)
|
rs757674443
|
0.00001
|
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)
|
rs780057014
|
0.00001
|
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val)
|
rs201835391
|
0.00001
|
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)
|
rs587778731
|
0.00001
|
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)
|
rs144329595
|
0.00001
|
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)
|
rs200045926
|
0.00001
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
NM_000548.5(TSC2):c.2837+4C>T
|
rs544409858
|
0.00001
|
NM_000548.5(TSC2):c.2838-16C>T
|
rs778996893
|
0.00001
|
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)
|
rs370415754
|
0.00001
|
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)
|
rs140202176
|
0.00001
|
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)
|
rs1168031047
|
0.00001
|
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)
|
rs780981335
|
0.00001
|
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys)
|
rs768241596
|
0.00001
|
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)
|
rs1478204355
|
0.00001
|
NM_000548.5(TSC2):c.2954A>G (p.His985Arg)
|
rs1330306605
|
0.00001
|
NM_000548.5(TSC2):c.2961C>G (p.Val987=)
|
rs775637322
|
0.00001
|
NM_000548.5(TSC2):c.2967-13C>T
|
rs536150612
|
0.00001
|
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=)
|
rs756679047
|
0.00001
|
NM_000548.5(TSC2):c.301G>A (p.Val101Met)
|
rs878854089
|
0.00001
|
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)
|
rs762570079
|
0.00001
|
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val)
|
rs2089807202
|
0.00001
|
NM_000548.5(TSC2):c.3132-13C>T
|
rs371948435
|
0.00001
|
NM_000548.5(TSC2):c.3165C>T (p.Gly1055=)
|
rs1215210783
|
0.00001
|
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)
|
rs147989574
|
0.00001
|
NM_000548.5(TSC2):c.324C>T (p.Ile108=)
|
rs973500815
|
0.00001
|
NM_000548.5(TSC2):c.327G>A (p.Val109=)
|
rs754348511
|
0.00001
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)
|
rs150126331
|
0.00001
|
NM_000548.5(TSC2):c.3297G>C (p.Gly1099=)
|
rs138459325
|
0.00001
|
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)
|
rs1060504119
|
0.00001
|
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro)
|
rs1260370117
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.337-3T>C
|
rs770515822
|
0.00001
|
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp)
|
rs747420910
|
0.00001
|
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln)
|
rs796053475
|
0.00001
|
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His)
|
rs1412967226
|
0.00001
|
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)
|
rs775639244
|
0.00001
|
NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu)
|
rs137854074
|
0.00001
|
NM_000548.5(TSC2):c.3397+15C>T
|
rs202246408
|
0.00001
|
NM_000548.5(TSC2):c.3397+7C>T
|
rs767531844
|
0.00001
|
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu)
|
rs397515162
|
0.00001
|
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala)
|
rs759350468
|
0.00001
|
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser)
|
rs895935495
|
0.00001
|
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)
|
rs368666554
|
0.00001
|
NM_000548.5(TSC2):c.352G>T (p.Val118Phe)
|
rs878854094
|
0.00001
|
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu)
|
rs45517297
|
0.00001
|
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)
|
rs45483391
|
0.00001
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)
|
rs767755750
|
0.00001
|
NM_000548.5(TSC2):c.3648C>T (p.Leu1216=)
|
rs777246414
|
0.00001
|
NM_000548.5(TSC2):c.3675C>T (p.Asn1225=)
|
rs1483188996
|
0.00001
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
NM_000548.5(TSC2):c.3759G>A (p.Leu1253=)
|
rs878854095
|
0.00001
|
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)
|
rs1233661099
|
0.00001
|
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu)
|
rs1057523452
|
0.00001
|
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)
|
rs45517311
|
0.00001
|
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser)
|
rs757010959
|
0.00001
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)
|
rs45517314
|
0.00001
|
NM_000548.5(TSC2):c.381C>G (p.Ile127Met)
|
rs2085502591
|
0.00001
|
NM_000548.5(TSC2):c.3884-8C>G
|
rs397515219
|
0.00001
|
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041
|
0.00001
|
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp)
|
rs149340262
|
0.00001
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)
|
rs201979616
|
0.00001
|
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)
|
rs749930791
|
0.00001
|
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)
|
rs1060500928
|
0.00001
|
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
|
rs778147657
|
0.00001
|
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn)
|
rs1267811475
|
0.00001
|
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)
|
rs562443546
|
0.00001
|
NM_000548.5(TSC2):c.4257G>C (p.Gln1419His)
|
rs1403321543
|
0.00001
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu)
|
rs1368001965
|
0.00001
|
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)
|
rs763497329
|
0.00001
|
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)
|
rs764533757
|
0.00001
|
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)
|
rs757579310
|
0.00001
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00001
|
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala)
|
rs376381196
|
0.00001
|
NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr)
|
rs1189784704
|
0.00001
|
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser)
|
rs373018205
|
0.00001
|
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys)
|
rs767889030
|
0.00001
|
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)
|
rs558737770
|
0.00001
|
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val)
|
rs397515242
|
0.00001
|
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr)
|
rs370114027
|
0.00001
|
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)
|
rs1029118280
|
0.00001
|
NM_000548.5(TSC2):c.4494-12C>T
|
rs780056359
|
0.00001
|
NM_000548.5(TSC2):c.4497C>T (p.Phe1499=)
|
rs372974007
|
0.00001
|
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr)
|
rs1173459869
|
0.00001
|
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn)
|
rs774441486
|
0.00001
|
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=)
|
rs1260508226
|
0.00001
|
NM_000548.5(TSC2):c.4569+6C>T
|
rs756614796
|
0.00001
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)
|
rs745895675
|
0.00001
|
NM_000548.5(TSC2):c.4697A>G (p.His1566Arg)
|
rs1448001502
|
0.00001
|
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)
|
rs397515277
|
0.00001
|
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=)
|
rs766665967
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00001
|
NM_000548.5(TSC2):c.481+9C>T
|
rs201026150
|
0.00001
|
NM_000548.5(TSC2):c.482-4C>T
|
rs780938957
|
0.00001
|
NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=)
|
rs1422829075
|
0.00001
|
NM_000548.5(TSC2):c.4833C>T (p.His1611=)
|
rs765271161
|
0.00001
|
NM_000548.5(TSC2):c.4850-10T>A
|
rs1238997365
|
0.00001
|
NM_000548.5(TSC2):c.4850-8A>G
|
rs372258482
|
0.00001
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=)
|
rs137854094
|
0.00001
|
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys)
|
rs1555438551
|
0.00001
|
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val)
|
rs1555438692
|
0.00001
|
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu)
|
rs757221445
|
0.00001
|
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile)
|
rs1555439727
|
0.00001
|
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
|
rs1163037065
|
0.00001
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr)
|
rs150558493
|
0.00001
|
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=)
|
rs200700923
|
0.00001
|
NM_000548.5(TSC2):c.5069-11A>G
|
rs562381623
|
0.00001
|
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)
|
rs45474691
|
0.00001
|
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser)
|
rs772439098
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr)
|
rs758246234
|
0.00001
|
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)
|
rs201206500
|
0.00001
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp)
|
rs1555440500
|
0.00001
|
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=)
|
rs910514279
|
0.00001
|
NM_000548.5(TSC2):c.5208C>T (p.Tyr1736=)
|
rs45517410
|
0.00001
|
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)
|
rs780112037
|
0.00001
|
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=)
|
rs151298910
|
0.00001
|
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)
|
rs140526185
|
0.00001
|
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=)
|
rs772865175
|
0.00001
|
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)
|
rs760413281
|
0.00001
|
NM_000548.5(TSC2):c.5238C>T (p.His1746=)
|
rs1060504084
|
0.00001
|
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp)
|
rs1193817827
|
0.00001
|
NM_000548.5(TSC2):c.5260-13C>T
|
rs1413775764
|
0.00001
|
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)
|
rs138831802
|
0.00001
|
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)
|
rs779621136
|
0.00001
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
|
rs768237144
|
0.00001
|
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys)
|
rs397515221
|
0.00001
|
NM_000548.5(TSC2):c.5370G>C (p.Val1790=)
|
rs762032752
|
0.00001
|
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)
|
rs1473538868
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
NM_000548.5(TSC2):c.629C>T (p.Ala210Val)
|
rs764925296
|
0.00001
|
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)
|
rs1293515155
|
0.00001
|
NM_000548.5(TSC2):c.649-18C>T
|
rs771537061
|
0.00001
|
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)
|
rs1555498800
|
0.00001
|
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)
|
rs760100924
|
0.00001
|
NM_000548.5(TSC2):c.696G>A (p.Pro232=)
|
rs539797467
|
0.00001
|
NM_000548.5(TSC2):c.720C>T (p.Ile240=)
|
rs45517123
|
0.00001
|
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)
|
rs375574283
|
0.00001
|
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)
|
rs762104739
|
0.00001
|
NM_000548.5(TSC2):c.775-12T>C
|
rs753920940
|
0.00001
|
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)
|
rs45502703
|
0.00001
|
NM_000548.5(TSC2):c.807C>T (p.Gly269=)
|
rs1297815371
|
0.00001
|
NM_000548.5(TSC2):c.813C>T (p.Ser271=)
|
rs752676212
|
0.00001
|
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)
|
rs1305592691
|
0.00001
|
NM_000548.5(TSC2):c.837C>T (p.Leu279=)
|
rs746694709
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000548.5(TSC2):c.867G>A (p.Ala289=)
|
rs375163125
|
0.00001
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
0.00001
|
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)
|
rs1475672414
|
0.00001
|
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)
|
rs202082319
|
0.00001
|
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)
|
rs751490043
|
0.00001
|
NM_000548.5(TSC2):c.976-10C>T
|
rs765990217
|
0.00001
|
NM_000548.5(TSC2):c.990G>A (p.Pro330=)
|
rs752141469
|
0.00001
|
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)
|
rs1336741146
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
|
|
|
NM_000548.3(TSC2):c.4572_4577dupACAGTC
|
|
|
NM_000548.4(TSC2):c.-141G>C
|
|
|
NM_000548.4(TSC2):c.1600_1716del (p.Val534_Gln572del)
|
|
|
NM_000548.5(TSC2):c.*55TAAA[1]
|
rs137854184
|
|
NM_000548.5(TSC2):c.*61_*62del
|
rs36032671
|
|
NM_000548.5(TSC2):c.-29-10G>C
|
rs28537973
|
|
NM_000548.5(TSC2):c.1024A>T (p.Ile342Phe)
|
rs1060500913
|
|
NM_000548.5(TSC2):c.102A>C (p.Lys34Asn)
|
|
|
NM_000548.5(TSC2):c.1032G>A (p.Arg344=)
|
rs1057524033
|
|
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg)
|
rs45451295
|
|
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)
|
rs1567423240
|
|
NM_000548.5(TSC2):c.1057_1059delinsTTT (p.Leu353Phe)
|
|
|
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)
|
rs45469896
|
|
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)
|
rs137854345
|
|
NM_000548.5(TSC2):c.1094T>C (p.Ile365Thr)
|
|
|
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del)
|
rs1085307591
|
|
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)
|
rs45517149
|
|
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)
|
rs45469099
|
|
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)
|
rs1060500919
|
|
NM_000548.5(TSC2):c.1119+2T>C
|
rs137854173
|
|
NM_000548.5(TSC2):c.1119+6_1119+28del
|
rs1358834036
|
|
NM_000548.5(TSC2):c.1119G>C (p.Gln373His)
|
rs1057523727
|
|
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)
|
rs201525586
|
|
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)
|
rs45517154
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
NM_000548.5(TSC2):c.113_114dup (p.Ile39fs)
|
rs137854355
|
|
NM_000548.5(TSC2):c.1152_1162del (p.His385fs)
|
|
|
NM_000548.5(TSC2):c.1163_1164insACA (p.Leu388_Thr389insGln)
|
rs2151155078
|
|
NM_000548.5(TSC2):c.1172_1174del (p.Val391del)
|
rs1567428371
|
|
NM_000548.5(TSC2):c.1194del (p.Asn398fs)
|
rs886039736
|
|
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)
|
rs773920155
|
|
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)
|
rs773920155
|
|
NM_000548.5(TSC2):c.11dup (p.Thr5fs)
|
rs1596233685
|
|
NM_000548.5(TSC2):c.1202A>G (p.His401Arg)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val)
|
rs777172185
|
|
NM_000548.5(TSC2):c.1206del (p.Ser403fs)
|
rs2151155973
|
|
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)
|
rs2086693907
|
|
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del)
|
rs137853998
|
|
NM_000548.5(TSC2):c.1229T>C (p.Leu410Pro)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1240T>A (p.Cys414Ser)
|
rs1057523509
|
|
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)
|
rs1057523509
|
|
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)
|
rs1237876686
|
|
NM_000548.5(TSC2):c.1257+10C>G
|
rs756063576
|
|
NM_000548.5(TSC2):c.1257+2T>G
|
rs45509697
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
NM_000548.5(TSC2):c.1258-10_1258-8del
|
rs767749967
|
|
NM_000548.5(TSC2):c.1258-8T>G
|
rs1175574879
|
|
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)
|
rs796053484
|
|
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)
|
rs876658585
|
|
NM_000548.5(TSC2):c.1265C>T (p.Ser422Phe)
|
rs2151163315
|
|
NM_000548.5(TSC2):c.126G>A (p.Ala42=)
|
rs886043548
|
|
NM_000548.5(TSC2):c.1275C>T (p.Asn425=)
|
rs878854076
|
|
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)
|
rs2084685904
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter)
|
rs45493394
|
|
NM_000548.5(TSC2):c.1298C>T (p.Ser433Phe)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1308G>C (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.1308G>T (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.1310C>T (p.Ala437Val)
|
|
|
NM_000548.5(TSC2):c.1311C>A (p.Ala437=)
|
rs752435039
|
|
NM_000548.5(TSC2):c.1316A>G (p.Asp439Gly)
|
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.131_132del (p.Ile44fs)
|
rs1064793853
|
|
NM_000548.5(TSC2):c.132A>G (p.Ile44Met)
|
rs796053508
|
|
NM_000548.5(TSC2):c.132dup (p.Leu45fs)
|
rs2150973810
|
|
NM_000548.5(TSC2):c.1332C>A (p.Asn444Lys)
|
|
|
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)
|
rs137854360
|
|
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.134_138+1delinsC
|
rs1057518535
|
|
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs)
|
rs397515082
|
|
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1361+1G>A
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+1G>T
|
rs45517164
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser)
|
rs374252944
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)
|
rs796053486
|
|
NM_000548.5(TSC2):c.1382T>C (p.Val461Ala)
|
rs2086823656
|
|
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly)
|
rs397515261
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.1386dup (p.Ile463fs)
|
rs1596307300
|
|
NM_000548.5(TSC2):c.138_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)
|
rs45481199
|
|
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter)
|
rs1555495676
|
|
NM_000548.5(TSC2):c.1418T>C (p.Leu473Pro)
|
rs2086830486
|
|
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
|
|
|
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)
|
rs121964862
|
|
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg)
|
rs1555501733
|
|
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
|
|
|
NM_000548.5(TSC2):c.1443+2T>A
|
rs397515064
|
|
NM_000548.5(TSC2):c.1443+4_1443+5delinsGT
|
|
|
NM_000548.5(TSC2):c.1443+5G>A
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1443+5G>C
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1443+65T>G
|
rs115599333
|
|
NM_000548.5(TSC2):c.1444-201G>A
|
rs60763712
|
|
NM_000548.5(TSC2):c.1444-2A>G
|
rs45517174
|
|
NM_000548.5(TSC2):c.1444G>C (p.Glu482Gln)
|
rs1308965961
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.1470C>A (p.Ile490=)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)
|
rs751984707
|
|
NM_000548.5(TSC2):c.1485C>T (p.His495=)
|
rs2151189170
|
|
NM_000548.5(TSC2):c.149T>C (p.Met50Thr)
|
rs1060500955
|
|
NM_000548.5(TSC2):c.1502A>T (p.Asp501Val)
|
rs2151189595
|
|
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser)
|
rs2151190252
|
|
NM_000548.5(TSC2):c.1528C>T (p.Gln510Ter)
|
|
|
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs)
|
rs796053503
|
|
NM_000548.5(TSC2):c.1563dup (p.His522fs)
|
rs137854023
|
|
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del)
|
rs2087028639
|
|
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)
|
rs376573446
|
|
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)
|
rs397514922
|
|
NM_000548.5(TSC2):c.1585G>T (p.Asp529Tyr)
|
rs1567438280
|
|
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)
|
rs2151191974
|
|
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)
|
rs45517180
|
|
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+270CTGGGG[3]
|
rs139950082
|
|
NM_000548.5(TSC2):c.1599+82_1599+84del
|
rs397515135
|
|
NM_000548.5(TSC2):c.1600-11T>G
|
rs2151205759
|
|
NM_000548.5(TSC2):c.1600-14C>T
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-83dup
|
rs369052665
|
|
NM_000548.5(TSC2):c.1600-84_1600-83del
|
rs369052665
|
|
NM_000548.5(TSC2):c.1600-85_1600-83del
|
rs369052665
|
|
NM_000548.5(TSC2):c.1600-97_1600-83del
|
rs369052665
|
|
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs)
|
rs2087224465
|
|
NM_000548.5(TSC2):c.1621C>T (p.Pro541Ser)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1626C>A (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)
|
rs1465307943
|
|
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr)
|
rs1555503254
|
|
NM_000548.5(TSC2):c.1716+1G>A
|
rs45517190
|
|
NM_000548.5(TSC2):c.1716+1G>T
|
rs45517190
|
|
NM_000548.5(TSC2):c.1716+263G>A
|
|
|
NM_000548.5(TSC2):c.1717-12CT[2]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1717-12CT[3]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1720A>T (p.Lys574Ter)
|
rs2088115626
|
|
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg)
|
rs1060500926
|
|
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro)
|
rs1567456901
|
|
NM_000548.5(TSC2):c.1724_1735del (p.Leu575_Leu578del)
|
rs1596336046
|
|
NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter)
|
|
|
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1743C>G (p.Ser581Arg)
|
|
|
NM_000548.5(TSC2):c.1746C>T (p.His582=)
|
rs876658921
|
|
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer)
|
rs397515116
|
|
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)
|
rs137854371
|
|
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter)
|
rs753179817
|
|
NM_000548.5(TSC2):c.1763A>G (p.Glu588Gly)
|
|
|
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys)
|
rs796053487
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro)
|
rs45517200
|
|
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)
|
rs45509094
|
|
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg)
|
rs45517202
|
|
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter)
|
rs367553206
|
|
NM_000548.5(TSC2):c.1813C>T (p.Pro605Ser)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1816A>T (p.Ile606Phe)
|
|
|
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
|
|
|
NM_000548.5(TSC2):c.1818C>G (p.Ile606Met)
|
rs547389841
|
|
NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly)
|
rs2151281861
|
|
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg)
|
rs2151282389
|
|
NM_000548.5(TSC2):c.1839+1G>T
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+269G>A
|
rs116085243
|
|
NM_000548.5(TSC2):c.1840-2A>C
|
rs45517205
|
|
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA
|
rs1555505742
|
|
NM_000548.5(TSC2):c.1862T>C (p.Leu621Pro)
|
rs397514927
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.1866G>A (p.Arg622=)
|
rs1397060903
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)
|
rs2151296839
|
|
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs)
|
rs397515073
|
|
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)
|
rs45437797
|
|
NM_000548.5(TSC2):c.1883G>C (p.Arg628Pro)
|
rs774895427
|
|
NM_000548.5(TSC2):c.1884C>T (p.Arg628=)
|
rs1225653495
|
|
NM_000548.5(TSC2):c.1885C>T (p.Leu629=)
|
rs570409651
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.1925C>A (p.Pro642His)
|
rs1408228669
|
|
NM_000548.5(TSC2):c.1926C>T (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly)
|
rs1567462577
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter)
|
rs745414854
|
|
NM_000548.5(TSC2):c.1940A>C (p.Asp647Ala)
|
rs2151299187
|
|
NM_000548.5(TSC2):c.1946+1G>A
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+1G>T
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+2T>A
|
rs397515247
|
|
NM_000548.5(TSC2):c.1946+2T>C
|
rs397515247
|
|
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter)
|
rs1555505954
|
|
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter)
|
rs764225717
|
|
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del)
|
rs137854104
|
|
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1980C>T (p.Ser660=)
|
rs959705365
|
|
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg)
|
rs137854168
|
|
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)
|
rs137854103
|
|
NM_000548.5(TSC2):c.1987C>G (p.Leu663Val)
|
rs747516623
|
|
NM_000548.5(TSC2):c.1987_1988del (p.Leu663fs)
|
rs1596344279
|
|
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
|
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala)
|
rs1262368552
|
|
NM_000548.5(TSC2):c.2024_2034del (p.Ala675fs)
|
rs2151306395
|
|
NM_000548.5(TSC2):c.2025A>C (p.Ala675=)
|
rs766113544
|
|
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)
|
rs756536921
|
|
NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)
|
|
|
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)
|
rs959165669
|
|
NM_000548.5(TSC2):c.2062C>G (p.Leu688Val)
|
|
|
NM_000548.5(TSC2):c.2067_2068del (p.Phe690fs)
|
rs1064793524
|
|
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly)
|
rs760489473
|
|
NM_000548.5(TSC2):c.2071del (p.Arg691fs)
|
rs137854071
|
|
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)
|
rs45517209
|
|
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2090T>C (p.Leu697Ser)
|
rs2088487335
|
|
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe)
|
rs2151308956
|
|
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu)
|
rs796053510
|
|
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)
|
rs45517210
|
|
NM_000548.5(TSC2):c.2097+5G>A
|
rs977777731
|
|
NM_000548.5(TSC2):c.2097G>C (p.Gln699His)
|
rs2151309145
|
|
NM_000548.5(TSC2):c.2098-1G>A
|
rs45517212
|
|
NM_000548.5(TSC2):c.2098-5C>G
|
rs369072310
|
|
NM_000548.5(TSC2):c.2099A>G (p.Glu700Gly)
|
|
|
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs)
|
rs886041563
|
|
NM_000548.5(TSC2):c.2106_2108dup (p.Asp702_Trp703insCys)
|
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2113del (p.Val705fs)
|
rs1555506428
|
|
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)
|
rs778040604
|
|
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro)
|
rs876659689
|
|
NM_000548.5(TSC2):c.2136G>A (p.Arg712=)
|
rs995073369
|
|
NM_000548.5(TSC2):c.2146T>G (p.Ser716Ala)
|
|
|
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2153G>A (p.Arg718His)
|
rs45517215
|
|
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter)
|
rs902456479
|
|
NM_000548.5(TSC2):c.2166C>A (p.Leu722=)
|
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
NM_000548.5(TSC2):c.2174C>T (p.Thr725Ile)
|
rs1567467623
|
|
NM_000548.5(TSC2):c.2180del (p.Pro727fs)
|
rs2088578781
|
|
NM_000548.5(TSC2):c.2184C>A (p.Cys728Ter)
|
rs1555506557
|
|
NM_000548.5(TSC2):c.2191G>T (p.Asp731Tyr)
|
|
|
NM_000548.5(TSC2):c.2193C>T (p.Asp731=)
|
rs760053529
|
|
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)
|
rs45517216
|
|
NM_000548.5(TSC2):c.21del (p.Asp8fs)
|
rs137854019
|
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
|
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)
|
rs2151319848
|
|
NM_000548.5(TSC2):c.2221-1G>A
|
rs45517218
|
|
NM_000548.5(TSC2):c.2221-8G>A
|
rs768919244
|
|
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp)
|
rs2151326551
|
|
NM_000548.5(TSC2):c.225+133del
|
rs554452830
|
|
NM_000548.5(TSC2):c.225+2T>C
|
rs397515105
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2264_2265delinsGC (p.Glu755Gly)
|
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.2271C>T (p.Phe757=)
|
rs1555506918
|
|
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2308C>A (p.Leu770Met)
|
rs762215859
|
|
NM_000548.5(TSC2):c.231A>C (p.Ala77=)
|
rs2151026046
|
|
NM_000548.5(TSC2):c.2325T>G (p.Ser775=)
|
|
|
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2336A>G (p.Tyr779Cys)
|
rs752656474
|
|
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)
|
rs45517226
|
|
NM_000548.5(TSC2):c.2355+261dup
|
rs141745833
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-1G>T
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys)
|
rs45517231
|
|
NM_000548.5(TSC2):c.235G>A (p.Glu79Lys)
|
rs2151026169
|
|
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs)
|
rs2151346636
|
|
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)
|
rs1555507478
|
|
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro)
|
rs137854241
|
|
NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter)
|
rs1596356248
|
|
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)
|
rs45517233
|
|
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del)
|
rs1555507504
|
|
NM_000548.5(TSC2):c.2405G>C (p.Ser802Thr)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe)
|
rs796053489
|
|
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
|
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.2455A>G (p.Ile819Val)
|
rs1426302691
|
|
NM_000548.5(TSC2):c.2460C>T (p.Ile820=)
|
rs2151352359
|
|
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs)
|
rs1555507612
|
|
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr)
|
rs1555507617
|
|
NM_000548.5(TSC2):c.2487G>C (p.Lys829Asn)
|
rs749431392
|
|
NM_000548.5(TSC2):c.2490C>G (p.Leu830=)
|
rs768573698
|
|
NM_000548.5(TSC2):c.2491dup (p.Thr831fs)
|
rs1555507623
|
|
NM_000548.5(TSC2):c.249G>A (p.Lys83=)
|
rs1202653675
|
|
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro)
|
rs1057522911
|
|
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del)
|
rs1567476034
|
|
NM_000548.5(TSC2):c.2532G>A (p.Leu844=)
|
rs2151356150
|
|
NM_000548.5(TSC2):c.2545+244C>A
|
rs143553665
|
|
NM_000548.5(TSC2):c.2545+244C>G
|
rs143553665
|
|
NM_000548.5(TSC2):c.2545+5G>C
|
rs1131691965
|
|
NM_000548.5(TSC2):c.2545+95dup
|
rs397515216
|
|
NM_000548.5(TSC2):c.2546-1G>A
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-249dup
|
rs933350142
|
|
NM_000548.5(TSC2):c.2546-250_2546-247del
|
rs1170575546
|
|
NM_000548.5(TSC2):c.2546-250_2546-249dup
|
rs933350142
|
|
NM_000548.5(TSC2):c.2546-254_2546-249dup
|
rs933350142
|
|
NM_000548.5(TSC2):c.2546-2A>G
|
rs45517246
|
|
NM_000548.5(TSC2):c.2558T>C (p.Leu853Pro)
|
|
|
NM_000548.5(TSC2):c.2567T>A (p.Leu856His)
|
rs2151380235
|
|
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)
|
rs878854084
|
|
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs)
|
rs886042032
|
|
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2616C>T (p.Ser872=)
|
rs779843919
|
|
NM_000548.5(TSC2):c.2618T>C (p.Leu873Pro)
|
rs2151381717
|
|
NM_000548.5(TSC2):c.2639+1G>A
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+44C>G
|
rs1800715
|
|
NM_000548.5(TSC2):c.2639+6T>C
|
rs2151382514
|
|
NM_000548.5(TSC2):c.2640-1G>A
|
rs397515203
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.2640-74G>A
|
rs143128054
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
|
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs)
|
rs137854232
|
|
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)
|
rs45475594
|
|
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr)
|
rs796053491
|
|
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)
|
rs1379507306
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser)
|
rs45517255
|
|
NM_000548.5(TSC2):c.2695A>G (p.Arg899Gly)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2720A>G (p.Asp907Gly)
|
rs2151388705
|
|
NM_000548.5(TSC2):c.2721T>A (p.Asp907Glu)
|
rs2089328474
|
|
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser)
|
rs1319146226
|
|
NM_000548.5(TSC2):c.2742+6C>G
|
rs377568673
|
|
NM_000548.5(TSC2):c.2742G>A (p.Lys914=)
|
rs137854877
|
|
NM_000548.5(TSC2):c.2743-10A>G
|
rs1060504094
|
|
NM_000548.5(TSC2):c.2743-1G>C
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-9C>G
|
rs397515319
|
|
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro)
|
rs137854405
|
|
NM_000548.5(TSC2):c.2760C>T (p.Val920=)
|
rs149490538
|
|
NM_000548.5(TSC2):c.2763_2764dup (p.Leu922fs)
|
rs1555508917
|
|
NM_000548.5(TSC2):c.2772TGA[3] (p.Asp926_Thr927insAsp)
|
|
|
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)
|
rs45517267
|
|
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)
|
rs1060500935
|
|
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)
|
rs886051791
|
|
NM_000548.5(TSC2):c.2837+10G>T
|
rs1232454175
|
|
NM_000548.5(TSC2):c.2837+220C>T
|
rs74002770
|
|
NM_000548.5(TSC2):c.2838-10C>T
|
rs1596374422
|
|
NM_000548.5(TSC2):c.2838-122G>A
|
rs1567489890
|
|
NM_000548.5(TSC2):c.2838-3T>G
|
rs553942147
|
|
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro)
|
rs1555509447
|
|
NM_000548.5(TSC2):c.2855C>A (p.Pro952His)
|
|
|
NM_000548.5(TSC2):c.2858_2859delinsAA (p.Pro953Gln)
|
rs886044172
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer)
|
rs1057518322
|
|
NM_000548.5(TSC2):c.2870dup (p.Leu957fs)
|
rs1567490680
|
|
NM_000548.5(TSC2):c.2877C>T (p.Asn959=)
|
rs147523833
|
|
NM_000548.5(TSC2):c.2892_2895del (p.Lys964fs)
|
rs1555509491
|
|
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del)
|
rs1460562160
|
|
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)
|
rs779832805
|
|
NM_000548.5(TSC2):c.2930G>A (p.Cys977Tyr)
|
rs2089593473
|
|
NM_000548.5(TSC2):c.2933G>A (p.Arg978His)
|
rs876660733
|
|
NM_000548.5(TSC2):c.294G>A (p.Arg98=)
|
|
|
NM_000548.5(TSC2):c.2958_2960del (p.Val987del)
|
rs2151416522
|
|
NM_000548.5(TSC2):c.2966+15G>A
|
rs779884344
|
|
NM_000548.5(TSC2):c.2966+20G>T
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+92_2966+94dup
|
rs397515128
|
|
NM_000548.5(TSC2):c.2968A>T (p.Arg990Trp)
|
rs753730009
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2T>C (p.Met1Thr)
|
rs2084667702
|
|
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3020C>G (p.Ser1007Cys)
|
rs2151431750
|
|
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3040A>G (p.Ser1014Gly)
|
rs1163007321
|
|
NM_000548.5(TSC2):c.3043C>G (p.Leu1015Val)
|
rs2151432458
|
|
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe)
|
rs1034696882
|
|
NM_000548.5(TSC2):c.3059T>C (p.Leu1020Pro)
|
rs2089798643
|
|
NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr)
|
rs1057522974
|
|
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)
|
rs1567496821
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter)
|
rs137854015
|
|
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3102C>G (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3103T>C (p.Phe1035Leu)
|
rs2151434349
|
|
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala)
|
rs45517281
|
|
NM_000548.5(TSC2):c.3124C>A (p.Pro1042Thr)
|
|
|
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3131+1G>A
|
rs45506401
|
|
NM_000548.5(TSC2):c.3131+2T>A
|
rs397515036
|
|
NM_000548.5(TSC2):c.3132-1G>C
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-2A>G
|
|
|
NM_000548.5(TSC2):c.3134C>T (p.Ser1045Phe)
|
|
|
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu)
|
rs1567497682
|
|
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)
|
rs772640324
|
|
NM_000548.5(TSC2):c.3164del (p.Gly1055fs)
|
rs1555510519
|
|
NM_000548.5(TSC2):c.3176C>G (p.Thr1059Ser)
|
rs753205147
|
|
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)
|
rs796053509
|
|
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs)
|
rs1555510579
|
|
NM_000548.5(TSC2):c.3190_3285-15del
|
|
|
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)
|
rs201670791
|
|
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)
|
rs397515207
|
|
NM_000548.5(TSC2):c.31T>C (p.Leu11=)
|
rs978517404
|
|
NM_000548.5(TSC2):c.3205G>C (p.Val1069Leu)
|
rs2151438862
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs)
|
rs1057518448
|
|
NM_000548.5(TSC2):c.3217G>A (p.Val1073Met)
|
rs749192298
|
|
NM_000548.5(TSC2):c.3229_3258dup (p.Thr1077_Gly1086dup)
|
rs1567498463
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe)
|
rs371514669
|
|
NM_000548.5(TSC2):c.3253delinsCC (p.Ser1085fs)
|
rs1596384304
|
|
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter)
|
rs1085307762
|
|
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)
|
rs45517288
|
|
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
|
rs1060500936
|
|
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser)
|
rs796053493
|
|
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)
|
rs368923127
|
|
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly)
|
rs796053494
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3285-3C>G
|
rs781023043
|
|
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)
|
rs1064796511
|
|
NM_000548.5(TSC2):c.329del (p.Gln110fs)
|
rs1567395826
|
|
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)
|
rs796053515
|
|
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)
|
rs775584262
|
|
NM_000548.5(TSC2):c.3311A>C (p.Gln1104Pro)
|
rs869144637
|
|
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile)
|
rs946381749
|
|
NM_000548.5(TSC2):c.3319_3320delinsAT (p.Glu1107Met)
|
rs1596385905
|
|
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)
|
rs1266039524
|
|
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val)
|
rs587781782
|
|
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala)
|
rs1555510880
|
|
NM_000548.5(TSC2):c.3325C>T (p.Pro1109Ser)
|
|
|
NM_000548.5(TSC2):c.3335_3355dup (p.Leu1112_Gln1118dup)
|
rs2089873322
|
|
NM_000548.5(TSC2):c.3347C>T (p.Ala1116Val)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=)
|
rs1596386166
|
|
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)
|
rs1567500641
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
NM_000548.5(TSC2):c.336+1G>A
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+2T>G
|
rs45505995
|
|
NM_000548.5(TSC2):c.336+33G>T
|
rs45517104
|
|
NM_000548.5(TSC2):c.336+5G>C
|
rs1057523242
|
|
NM_000548.5(TSC2):c.3364del (p.Arg1122fs)
|
rs2151446681
|
|
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro)
|
rs369536711
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.3389C>T (p.Ser1130Phe)
|
rs1163066622
|
|
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter)
|
rs137854074
|
|
NM_000548.5(TSC2):c.3397+5G>A
|
rs45501492
|
|
NM_000548.5(TSC2):c.3400G>A (p.Gly1134Ser)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)
|
rs137854314
|
|
NM_000548.5(TSC2):c.3403del (p.His1135fs)
|
rs1596389437
|
|
NM_000548.5(TSC2):c.3404del (p.His1135fs)
|
rs1064793464
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3424del (p.Leu1142fs)
|
rs1596389562
|
|
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val)
|
rs796053495
|
|
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)
|
rs45477491
|
|
NM_000548.5(TSC2):c.3448del (p.Leu1150fs)
|
rs1555511352
|
|
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs)
|
rs1555511352
|
|
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)
|
rs764529584
|
|
NM_000548.5(TSC2):c.3452del (p.Gly1151fs)
|
rs1131691419
|
|
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly)
|
rs772215032
|
|
NM_000548.5(TSC2):c.3457G>A (p.Ala1153Thr)
|
rs1352230225
|
|
NM_000548.5(TSC2):c.345T>G (p.Arg115=)
|
|
|
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu)
|
rs144126969
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3505G>T (p.Ala1169Ser)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3506C>T (p.Ala1169Val)
|
|
|
NM_000548.5(TSC2):c.3512C>T (p.Ala1171Val)
|
|
|
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=)
|
rs754306983
|
|
NM_000548.5(TSC2):c.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)
|
rs45517297
|
|
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=)
|
rs139313964
|
|
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter)
|
rs1567504592
|
|
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser)
|
rs137854421
|
|
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)
|
rs1596264734
|
|
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3565del (p.Leu1189fs)
|
rs137854121
|
|
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)
|
rs1131691602
|
|
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln)
|
rs397515225
|
|
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
|
|
|
NM_000548.5(TSC2):c.3610+124dup
|
rs58192244
|
|
NM_000548.5(TSC2):c.3610+170A>C
|
rs9933952
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+1G>C
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+226C>T
|
rs182662506
|
|
NM_000548.5(TSC2):c.3611-11C>A
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-11C>G
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-2A>T
|
rs397515169
|
|
NM_000548.5(TSC2):c.3611-5C>T
|
rs200194551
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter)
|
rs796053496
|
|
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
|
|
|
NM_000548.5(TSC2):c.3653del (p.Pro1218fs)
|
rs1057518201
|
|
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)
|
rs1342475885
|
|
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)
|
rs45517306
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter)
|
rs1057520759
|
|
NM_000548.5(TSC2):c.3729G>C (p.Glu1243Asp)
|
rs2151483009
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
NM_000548.5(TSC2):c.3733C>G (p.Arg1245Gly)
|
rs777489742
|
|
NM_000548.5(TSC2):c.3736del (p.Asp1246fs)
|
rs796053516
|
|
NM_000548.5(TSC2):c.3738C>T (p.Asp1246=)
|
|
|
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs)
|
rs796053506
|
|
NM_000548.5(TSC2):c.3739del (p.Thr1247fs)
|
rs796053517
|
|
NM_000548.5(TSC2):c.3742_3751del (p.Ala1248fs)
|
rs2151483315
|
|
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu)
|
rs1596400594
|
|
NM_000548.5(TSC2):c.3772G>C (p.Ala1258Pro)
|
rs2090168528
|
|
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp)
|
rs45517310
|
|
NM_000548.5(TSC2):c.3782_3814dup (p.Thr1271_Val1272insAlaLysProProProLeuProArgSerAsnThr)
|
|
|
NM_000548.5(TSC2):c.3783del (p.Lys1262fs)
|
rs1555512548
|
|
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs)
|
rs2090170656
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
NM_000548.5(TSC2):c.3793C>G (p.Pro1265Ala)
|
rs45517311
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
NM_000548.5(TSC2):c.3814+1G>C
|
rs397514902
|
|
NM_000548.5(TSC2):c.3815-8C>G
|
rs1596404187
|
|
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)
|
rs1596404280
|
|
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs)
|
rs1555512845
|
|
NM_000548.5(TSC2):c.3821_3833del (p.Ser1274fs)
|
rs1064794126
|
|
NM_000548.5(TSC2):c.3825C>G (p.Phe1275Leu)
|
|
|
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs)
|
rs796053518
|
|
NM_000548.5(TSC2):c.3846C>G (p.Ser1282Arg)
|
rs1596404651
|
|
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg)
|
rs997331401
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)
|
rs891262541
|
|
NM_000548.5(TSC2):c.3860T>C (p.Leu1287Pro)
|
|
|
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro)
|
rs1567514069
|
|
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)
|
rs1567514084
|
|
NM_000548.5(TSC2):c.3874del (p.Ser1292fs)
|
rs2151493492
|
|
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe)
|
rs796053497
|
|
NM_000548.5(TSC2):c.3883+1G>T
|
|
|
NM_000548.5(TSC2):c.3883+2T>G
|
rs2090269194
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-1G>C
|
rs137854079
|
|
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter)
|
rs886039680
|
|
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs)
|
rs2151512451
|
|
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter)
|
rs1064793797
|
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)
|
rs770396146
|
|
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro)
|
rs1555513574
|
|
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.3G>T (p.Met1Ile)
|
rs397515208
|
|
NM_000548.5(TSC2):c.4004G>T (p.Arg1335Met)
|
|
|
NM_000548.5(TSC2):c.4005+153T>A
|
rs28535326
|
|
NM_000548.5(TSC2):c.4005+1G>C
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+4A>T
|
|
|
NM_000548.5(TSC2):c.4006-1G>A
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4006-1G>C
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4006-3_4006-2insG
|
|
|
NM_000548.5(TSC2):c.4006-6T>C
|
rs1060500953
|
|
NM_000548.5(TSC2):c.4006-7T>G
|
rs2151520224
|
|
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del)
|
rs1567520255
|
|
NM_000548.5(TSC2):c.4013C>T (p.Ser1338Leu)
|
rs2151520475
|
|
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
|
|
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
|
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del)
|
rs878854100
|
|
NM_000548.5(TSC2):c.4030_4038delinsT (p.Glu1344fs)
|
|
|
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)
|
rs1060504109
|
|
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp)
|
rs878854102
|
|
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)
|
rs1555513911
|
|
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)
|
rs747104864
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4081C>G (p.Arg1361Gly)
|
rs560831385
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4087G>T (p.Val1363Phe)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del)
|
rs755101865
|
|
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)
|
rs45517327
|
|
NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs)
|
rs1064793573
|
|
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)
|
rs137854368
|
|
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe)
|
rs145476528
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys)
|
rs137854045
|
|
NM_000548.5(TSC2):c.413A>G (p.Glu138Gly)
|
rs2151042580
|
|
NM_000548.5(TSC2):c.4144_4145del (p.Leu1382fs)
|
|
|
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs)
|
rs1555514063
|
|
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=)
|
rs1057521540
|
|
NM_000548.5(TSC2):c.4161C>A (p.Ser1387=)
|
|
|
NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter)
|
rs397515033
|
|
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)
|
rs45517330
|
|
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)
|
rs886041772
|
|
NM_000548.5(TSC2):c.4196G>T (p.Gly1399Val)
|
|
|
NM_000548.5(TSC2):c.419T>C (p.Leu140Pro)
|
rs2151042793
|
|
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala)
|
rs778147657
|
|
NM_000548.5(TSC2):c.4207del (p.Asp1403fs)
|
rs137854273
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs)
|
rs1555514179
|
|
NM_000548.5(TSC2):c.4223del (p.Gly1408fs)
|
rs137854427
|
|
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)
|
rs45517333
|
|
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs)
|
rs2151529577
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.4267C>T (p.Leu1423=)
|
rs1484475537
|
|
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His)
|
rs1216613310
|
|
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly)
|
rs876659933
|
|
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg)
|
rs763497329
|
|
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs)
|
rs886041573
|
|
NM_000548.5(TSC2):c.4280del (p.Ser1427fs)
|
rs2151530795
|
|
NM_000548.5(TSC2):c.428del (p.Phe143fs)
|
rs1057518508
|
|
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
NM_000548.5(TSC2):c.4316del (p.Gly1439fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)
|
rs45517337
|
|
NM_000548.5(TSC2):c.431A>T (p.Lys144Met)
|
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His)
|
rs45517338
|
|
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)
|
rs45517339
|
|
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala)
|
rs1567524174
|
|
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)
|
rs2090527409
|
|
NM_000548.5(TSC2):c.4369del (p.Arg1457fs)
|
rs1567524236
|
|
NM_000548.5(TSC2):c.4372C>T (p.Pro1458Ser)
|
rs1189784704
|
|
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)
|
rs1060500969
|
|
NM_000548.5(TSC2):c.4415del (p.Gly1472fs)
|
rs794727573
|
|
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)
|
rs2090534289
|
|
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)
|
rs1202676769
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4473del (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)
|
rs45517344
|
|
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser)
|
rs45517344
|
|
NM_000548.5(TSC2):c.4493+1G>A
|
rs1057518230
|
|
NM_000548.5(TSC2):c.4494-12dup
|
rs2090575419
|
|
NM_000548.5(TSC2):c.4494-2A>G
|
rs397514990
|
|
NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs)
|
rs886041905
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)
|
rs775919951
|
|
NM_000548.5(TSC2):c.4536_4543del (p.Asp1512fs)
|
|
|
NM_000548.5(TSC2):c.4537G>T (p.Glu1513Ter)
|
|
|
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter)
|
rs74363455
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4544del (p.Asn1515fs)
|
rs886041789
|
|
NM_000548.5(TSC2):c.4546A>G (p.Lys1516Glu)
|
rs1596422969
|
|
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs)
|
rs886041643
|
|
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala)
|
rs1057522800
|
|
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg)
|
rs1279603512
|
|
NM_000548.5(TSC2):c.4569+1G>A
|
rs1060500972
|
|
NM_000548.5(TSC2):c.4569+46C>T
|
rs45482793
|
|
NM_000548.5(TSC2):c.4569+47G>A
|
rs45517351
|
|
NM_000548.5(TSC2):c.4570-13C>G
|
rs370549253
|
|
NM_000548.5(TSC2):c.4570-21_4570-11dup
|
rs137854040
|
|
NM_000548.5(TSC2):c.4570-66G>A
|
rs45496499
|
|
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln)
|
rs2090622255
|
|
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter)
|
rs886041919
|
|
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)
|
rs397515020
|
|
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln)
|
rs753060862
|
|
NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met)
|
rs757388437
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)
|
rs397515028
|
|
NM_000548.5(TSC2):c.4655_4656delinsGC (p.Glu1552Gly)
|
rs2151553737
|
|
NM_000548.5(TSC2):c.4658G>A (p.Gly1553Asp)
|
rs2090634038
|
|
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter)
|
rs2090634528
|
|
NM_000548.5(TSC2):c.4662+1G>T
|
|
|
NM_000548.5(TSC2):c.4662+2_4662+6del
|
rs796053520
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-20CCTCTCC[3]
|
rs760527750
|
|
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn)
|
rs1354678802
|
|
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg)
|
rs151140709
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4674G>A (p.Glu1558=)
|
rs2151569595
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)
|
rs397514980
|
|
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)
|
rs796053499
|
|
NM_000548.5(TSC2):c.4729G>T (p.Gly1577Cys)
|
|
|
NM_000548.5(TSC2):c.4730del (p.Gly1577fs)
|
rs397515173
|
|
NM_000548.5(TSC2):c.4733T>G (p.Leu1578Arg)
|
rs45517367
|
|
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)
|
rs886039446
|
|
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)
|
rs45479192
|
|
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)
|
rs45511204
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4787G>A (p.Gly1596Asp)
|
rs397515014
|
|
NM_000548.5(TSC2):c.478C>G (p.Leu160Val)
|
rs45517109
|
|
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu)
|
rs772687631
|
|
NM_000548.5(TSC2):c.481+5G>T
|
rs137854135
|
|
NM_000548.5(TSC2):c.4810_4811del (p.Gly1604fs)
|
rs2151575311
|
|
NM_000548.5(TSC2):c.482-1G>A
|
rs137854306
|
|
NM_000548.5(TSC2):c.482-20T>A
|
rs548831116
|
|
NM_000548.5(TSC2):c.482-68C>G
|
rs2516734
|
|
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)
|
rs137854399
|
|
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)
|
rs45517371
|
|
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr)
|
rs886051795
|
|
NM_000548.5(TSC2):c.4838A>C (p.Asp1613Ala)
|
|
|
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)
|
rs137854331
|
|
NM_000548.5(TSC2):c.4844T>G (p.Met1615Arg)
|
rs2090790157
|
|
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile)
|
rs2090790316
|
|
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)
|
rs45455296
|
|
NM_000548.5(TSC2):c.4849+2T>C
|
|
|
NM_000548.5(TSC2):c.4850-109T>C
|
rs13335638
|
|
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu)
|
rs397515177
|
|
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)
|
rs397515220
|
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
|
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)
|
rs137854050
|
|
NM_000548.5(TSC2):c.4881del (p.Lys1628fs)
|
rs1064793646
|
|
NM_000548.5(TSC2):c.4882A>G (p.Lys1628Glu)
|
|
|
NM_000548.5(TSC2):c.4883dup (p.Asp1629fs)
|
rs2151585265
|
|
NM_000548.5(TSC2):c.4889_4989+135del
|
rs137854272
|
|
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)
|
rs1596270677
|
|
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)
|
rs137854122
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His)
|
rs137854153
|
|
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)
|
rs794727602
|
|
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs)
|
rs2151587004
|
|
NM_000548.5(TSC2):c.4925del (p.Gly1642fs)
|
rs137854156
|
|
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)
|
rs45517379
|
|
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del)
|
rs1555438624
|
|
NM_000548.5(TSC2):c.4939T>C (p.Ser1647Pro)
|
rs2151587714
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp)
|
rs2090865014
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.4966_4989+14delinsTGA
|
rs2151588861
|
|
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)
|
rs45517111
|
|
NM_000548.5(TSC2):c.4989+134G>A
|
|
|
NM_000548.5(TSC2):c.4989+244G>C
|
rs28721933
|
|
NM_000548.5(TSC2):c.4989+6_4989+9del
|
rs1262967003
|
|
NM_000548.5(TSC2):c.4990-1G>A
|
rs1555439650
|
|
NM_000548.5(TSC2):c.4990-58G>A
|
rs116828573
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)
|
rs45448101
|
|
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)
|
rs551938797
|
|
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs)
|
rs2151611619
|
|
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)
|
rs1131691794
|
|
NM_000548.5(TSC2):c.5011G>T (p.Val1671Leu)
|
|
|
NM_000548.5(TSC2):c.5012T>A (p.Val1671Glu)
|
rs2151611996
|
|
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly)
|
rs397515067
|
|
NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5026C>G (p.Leu1676Val)
|
rs201707249
|
|
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs)
|
rs1555439753
|
|
NM_000548.5(TSC2):c.5042A>G (p.Asn1681Ser)
|
rs1567128450
|
|
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)
|
rs1596455392
|
|
NM_000548.5(TSC2):c.5056C>A (p.Gln1686Lys)
|
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5061_5069-47dup
|
|
|
NM_000548.5(TSC2):c.5064G>C (p.Arg1688Ser)
|
rs374476631
|
|
NM_000548.5(TSC2):c.5068+1G>A
|
rs45445199
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5069-14_5069-12del
|
rs397514923
|
|
NM_000548.5(TSC2):c.5069-2A>C
|
rs45487291
|
|
NM_000548.5(TSC2):c.506del (p.Asp169fs)
|
rs1596270787
|
|
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs)
|
rs137854037
|
|
NM_000548.5(TSC2):c.5078del (p.Gly1693fs)
|
rs1555440022
|
|
NM_000548.5(TSC2):c.5086dup (p.Asp1696fs)
|
rs2151620335
|
|
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
|
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5101A>G (p.Lys1701Glu)
|
rs2151620842
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>G (p.Ile1702Met)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5122del (p.Leu1708fs)
|
rs137854336
|
|
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del)
|
rs1064795156
|
|
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
|
|
|
NM_000548.5(TSC2):c.5147C>T (p.Ala1716Val)
|
rs1420725409
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5159A>C (p.Asn1720Thr)
|
rs796053500
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+1G>T
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+2T>C
|
rs397515170
|
|
NM_000548.5(TSC2):c.5160+2_5160+3del
|
rs137854036
|
|
NM_000548.5(TSC2):c.5160+2dup
|
rs397514969
|
|
NM_000548.5(TSC2):c.5160+6T>G
|
rs1567130441
|
|
NM_000548.5(TSC2):c.5160+6_5160+27del
|
rs1555440243
|
|
NM_000548.5(TSC2):c.5161-15_5161-3del
|
rs1555440326
|
|
NM_000548.5(TSC2):c.5161-28_5161-25del
|
rs1799758
|
|
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs)
|
rs1555440437
|
|
NM_000548.5(TSC2):c.5171A>C (p.Gln1724Pro)
|
rs923367492
|
|
NM_000548.5(TSC2):c.5177A>T (p.His1726Leu)
|
|
|
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5200_5202delinsAAC (p.Asp1734Asn)
|
rs1596460422
|
|
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs)
|
rs886041940
|
|
NM_000548.5(TSC2):c.5214del (p.Lys1739fs)
|
rs397515139
|
|
NM_000548.5(TSC2):c.5217G>A (p.Lys1739=)
|
rs1596460659
|
|
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe)
|
rs1567132207
|
|
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)
|
rs45517413
|
|
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs)
|
rs137854002
|
|
NM_000548.5(TSC2):c.5238C>A (p.His1746Gln)
|
rs1060504084
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5243A>G (p.Lys1748Arg)
|
rs753424501
|
|
NM_000548.5(TSC2):c.5252_5259+19del
|
rs137854397
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5259+2T>G
|
rs1555440894
|
|
NM_000548.5(TSC2):c.5259+4G>A
|
rs2091153561
|
|
NM_000548.5(TSC2):c.5260-25C>G
|
rs13332222
|
|
NM_000548.5(TSC2):c.5260-2A>C
|
rs1374323400
|
|
NM_000548.5(TSC2):c.5260-39G>A
|
|
|
NM_000548.5(TSC2):c.5260-9_5279del
|
rs967037646
|
|
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)
|
rs762320484
|
|
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5262del (p.Cys1755fs)
|
rs796053507
|
|
NM_000548.5(TSC2):c.5266del (p.Glu1756fs)
|
rs878854118
|
|
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
|
rs755229386
|
|
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5289del (p.Ser1764fs)
|
rs1555441221
|
|
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=)
|
rs769507440
|
|
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)
|
rs748936673
|
|
NM_000548.5(TSC2):c.5302G>A (p.Val1768Met)
|
rs2151639120
|
|
NM_000548.5(TSC2):c.5315C>G (p.Ser1772Cys)
|
|
|
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=)
|
rs2151639594
|
|
NM_000548.5(TSC2):c.5327C>T (p.Ala1776Val)
|
|
|
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala)
|
rs781226141
|
|
NM_000548.5(TSC2):c.5330C>A (p.Pro1777His)
|
rs1555441353
|
|
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val)
|
rs755900742
|
|
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)
|
rs878854119
|
|
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=)
|
rs557200243
|
|
NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser)
|
rs371543182
|
|
NM_000548.5(TSC2):c.5358del (p.Gly1787fs)
|
rs2151641235
|
|
NM_000548.5(TSC2):c.535G>T (p.Val179Leu)
|
|
|
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs)
|
rs1085307666
|
|
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del)
|
rs796053480
|
|
NM_000548.5(TSC2):c.5392T>G (p.Ser1798Ala)
|
|
|
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del)
|
rs2151642647
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.543_551del (p.Asn182_Val184del)
|
|
|
NM_000548.5(TSC2):c.573C>G (p.Leu191=)
|
rs397515059
|
|
NM_000548.5(TSC2):c.581dup (p.Tyr194Ter)
|
rs1555498221
|
|
NM_000548.5(TSC2):c.585C>G (p.Ile195Met)
|
rs397515309
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
NM_000548.5(TSC2):c.600-287del
|
rs373314420
|
|
NM_000548.5(TSC2):c.600-287dup
|
rs373314420
|
|
NM_000548.5(TSC2):c.600-288_600-287del
|
rs373314420
|
|
NM_000548.5(TSC2):c.613C>T (p.Leu205=)
|
rs1596275276
|
|
NM_000548.5(TSC2):c.648+20A>G
|
rs2151071929
|
|
NM_000548.5(TSC2):c.649-12C>A
|
rs1596277751
|
|
NM_000548.5(TSC2):c.649-1G>C
|
rs794727906
|
|
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)
|
rs45517119
|
|
NM_000548.5(TSC2):c.661G>C (p.Val221Leu)
|
|
|
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)
|
rs772558666
|
|
NM_000548.5(TSC2):c.680_682del (p.Cys227del)
|
rs2151078439
|
|
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln)
|
rs397515018
|
|
NM_000548.5(TSC2):c.704G>C (p.Ser235Thr)
|
rs397514957
|
|
NM_000548.5(TSC2):c.716T>C (p.Phe239Ser)
|
rs778544723
|
|
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)
|
rs778544723
|
|
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.721G>C (p.Val241Leu)
|
rs200943828
|
|
NM_000548.5(TSC2):c.726C>T (p.Thr242=)
|
rs570051626
|
|
NM_000548.5(TSC2):c.727C>T (p.Leu243Phe)
|
rs796053502
|
|
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)
|
rs137854101
|
|
NM_000548.5(TSC2):c.743A>C (p.Asn248Thr)
|
|
|
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)
|
rs45517125
|
|
NM_000548.5(TSC2):c.766del (p.Cys256fs)
|
rs1567409292
|
|
NM_000548.5(TSC2):c.774+1G>A
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+2T>A
|
rs45517129
|
|
NM_000548.5(TSC2):c.774+2T>C
|
|
|
NM_000548.5(TSC2):c.775-2del
|
rs2085953535
|
|
NM_000548.5(TSC2):c.775-3C>G
|
rs397514909
|
|
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)
|
rs1555494636
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)
|
rs45517131
|
|
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)
|
rs373818076
|
|
NM_000548.5(TSC2):c.824dup (p.Asn275fs)
|
rs886041922
|
|
NM_000548.5(TSC2):c.826A>G (p.Met276Val)
|
rs1238874343
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.833A>G (p.His278Arg)
|
rs397515266
|
|
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
|
|
|
NM_000548.5(TSC2):c.848+143G>T
|
rs78160478
|
|
NM_000548.5(TSC2):c.848+1G>A
|
rs45466296
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.848+2T>G
|
rs1555499119
|
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.855C>G (p.Tyr285Ter)
|
rs794726983
|
|
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)
|
rs794726983
|
|
NM_000548.5(TSC2):c.87_105del (p.Ser30fs)
|
rs1596234235
|
|
NM_000548.5(TSC2):c.890T>G (p.Phe297Cys)
|
rs1567415441
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
NM_000548.5(TSC2):c.911G>T (p.Trp304Leu)
|
|
|
NM_000548.5(TSC2):c.919C>T (p.His307Tyr)
|
rs1279645051
|
|
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)
|
rs201144475
|
|
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)
|
rs1258567486
|
|
NM_000548.5(TSC2):c.926T>C (p.Leu309Pro)
|
rs75348431
|
|
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)
|
rs878854122
|
|
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter)
|
rs886041758
|
|
NM_000548.5(TSC2):c.931T>C (p.Ser311Pro)
|
|
|
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)
|
rs751490043
|
|
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)
|
rs1596289105
|
|
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)
|
rs1060500970
|
|
NM_000548.5(TSC2):c.96G>A (p.Glu32=)
|
rs1567380772
|
|
NM_000548.5(TSC2):c.975+15G>T
|
rs753334357
|
|
NM_000548.5(TSC2):c.975+187_975+188dup
|
rs10592762
|
|
NM_000548.5(TSC2):c.975+7C>G
|
rs372463702
|
|
NM_000548.5(TSC2):c.976-10C>A
|
rs765990217
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000548.5(TSC2):c.994G>C (p.Glu332Gln)
|
rs911600402
|
|
NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)
|
|
|
Single allele
|
|
|