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.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.2221-28A>G
|
rs7196184
|
0.11019
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000548.5(TSC2):c.1600-39C>T
|
rs45477195
|
0.07469
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
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.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
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.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_000548.5(TSC2):c.2097+43A>G
|
rs186681035
|
0.00912
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00823
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
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.336+377T>C
|
rs79357051
|
0.00575
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
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.336+32C>T
|
rs45517103
|
0.00456
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
NM_000548.5(TSC2):c.1362-32C>G
|
rs45517166
|
0.00391
|
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.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
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.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
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.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.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.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.337-26G>C
|
rs182543432
|
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.2742+13C>T
|
rs45517260
|
0.00065
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
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.2640-13C>T
|
rs201184637
|
0.00052
|
NM_000548.5(TSC2):c.4989+15G>A
|
rs199610889
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.3815-20C>T
|
rs201878712
|
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.649-35G>T
|
rs112305151
|
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.5259+25C>T
|
rs201329593
|
0.00040
|
NM_000548.5(TSC2):c.5260-40C>T
|
rs200623674
|
0.00039
|
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.4850-19C>T
|
rs45517376
|
0.00032
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
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.1170G>A (p.Thr390=)
|
rs376144933
|
0.00025
|
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=)
|
rs139630605
|
0.00025
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_000548.5(TSC2):c.2742+14C>T
|
rs765251896
|
0.00023
|
NM_000548.5(TSC2):c.4663-38_4663-18dup
|
rs137854102
|
0.00023
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.336+229C>T
|
rs587778008
|
0.00022
|
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
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.1443+15G>A
|
rs182743311
|
0.00020
|
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.4662+17G>A
|
rs45443002
|
0.00019
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
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.4905C>T (p.Cys1635=)
|
rs397514999
|
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.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
0.00016
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00016
|
NM_000548.5(TSC2):c.552C>T (p.Val184=)
|
rs199991910
|
0.00016
|
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.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
NM_000548.5(TSC2):c.3884-47G>T
|
rs375126574
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000548.5(TSC2):c.1599+10G>A
|
rs376692777
|
0.00012
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_000548.5(TSC2):c.4493+16C>G
|
rs45491597
|
0.00012
|
NM_000548.5(TSC2):c.1946+20C>T
|
rs372149311
|
0.00011
|
NM_000548.5(TSC2):c.3099C>T (p.Tyr1033=)
|
rs45464800
|
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.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
NM_000548.5(TSC2):c.3884-150G>A
|
rs587778010
|
0.00010
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_000548.5(TSC2):c.2743-9C>T
|
rs397515319
|
0.00009
|
NM_000548.5(TSC2):c.4006-19T>G
|
rs200900825
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.481+12C>T
|
rs777645015
|
0.00009
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_000548.5(TSC2):c.599+17G>C
|
rs533989586
|
0.00009
|
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)
|
rs397515288
|
0.00008
|
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys)
|
rs397514938
|
0.00008
|
NM_000548.5(TSC2):c.3815-16C>T
|
rs546810161
|
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.1120-16G>A
|
rs768241936
|
0.00007
|
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)
|
rs201525586
|
0.00007
|
NM_000548.5(TSC2):c.2220+12G>A
|
rs780039835
|
0.00007
|
NM_000548.5(TSC2):c.5259+9T>C
|
rs1057522018
|
0.00007
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
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.2546-6C>T
|
rs372088609
|
0.00006
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00006
|
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)
|
rs557648435
|
0.00006
|
NM_000548.5(TSC2):c.336+385C>G
|
rs587778009
|
0.00006
|
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=)
|
rs749870079
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000548.5(TSC2):c.5319T>C (p.His1773=)
|
rs536518032
|
0.00006
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00006
|
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)
|
rs373818076
|
0.00006
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000548.5(TSC2):c.282G>A (p.Pro94=)
|
rs145624233
|
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.4662+10C>T
|
rs371195832
|
0.00005
|
NM_000548.5(TSC2):c.4849+13G>A
|
rs780953278
|
0.00005
|
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)
|
rs587778728
|
0.00004
|
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)
|
rs757325185
|
0.00004
|
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)
|
rs760896048
|
0.00004
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
0.00004
|
NM_000548.5(TSC2):c.1716+16G>A
|
rs45517189
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.1839+20G>A
|
rs569912958
|
0.00004
|
NM_000548.5(TSC2):c.2049C>T (p.Ser683=)
|
rs569518378
|
0.00004
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00004
|
NM_000548.5(TSC2):c.2742+15G>A
|
rs45517261
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)
|
rs587781774
|
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.3884-16G>A
|
rs544004178
|
0.00004
|
NM_000548.5(TSC2):c.4108C>T (p.Pro1370Ser)
|
rs747293303
|
0.00004
|
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys)
|
rs376946970
|
0.00004
|
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)
|
rs45444196
|
0.00004
|
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=)
|
rs769246304
|
0.00004
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met)
|
rs370864445
|
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.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=)
|
rs765607686
|
0.00004
|
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)
|
rs778395191
|
0.00004
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
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.1059C>T (p.Leu353=)
|
rs796053472
|
0.00003
|
NM_000548.5(TSC2):c.1257+17G>T
|
rs369939081
|
0.00003
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00003
|
NM_000548.5(TSC2):c.1308G>A (p.Pro436=)
|
rs753764275
|
0.00003
|
NM_000548.5(TSC2):c.1332C>T (p.Asn444=)
|
rs535984356
|
0.00003
|
NM_000548.5(TSC2):c.139-15T>G
|
rs563094714
|
0.00003
|
NM_000548.5(TSC2):c.1443+14C>T
|
rs753454333
|
0.00003
|
NM_000548.5(TSC2):c.1600-10C>T
|
rs768188836
|
0.00003
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
NM_000548.5(TSC2):c.1815A>G (p.Pro605=)
|
rs961687056
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.1946+7G>A
|
rs759576009
|
0.00003
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
NM_000548.5(TSC2):c.2220+11C>T
|
rs372555496
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.2355+20C>T
|
rs1031112467
|
0.00003
|
NM_000548.5(TSC2):c.2545+9C>G
|
rs369385105
|
0.00003
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
NM_000548.5(TSC2):c.258G>A (p.Ala86=)
|
rs397514912
|
0.00003
|
NM_000548.5(TSC2):c.2781C>T (p.Thr927=)
|
rs376275903
|
0.00003
|
NM_000548.5(TSC2):c.2837+12G>A
|
rs755041349
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.325G>A (p.Val109Met)
|
rs369932305
|
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.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)
|
rs373481458
|
0.00003
|
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)
|
rs137854391
|
0.00003
|
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=)
|
rs749057825
|
0.00003
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)
|
rs769286175
|
0.00003
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4663-14C>T
|
rs397515174
|
0.00003
|
NM_000548.5(TSC2):c.481+8C>T
|
rs758228838
|
0.00003
|
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
NM_000548.5(TSC2):c.5069-8C>T
|
rs796053478
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.649-20G>A
|
rs377558380
|
0.00003
|
NM_000548.5(TSC2):c.734G>A (p.Arg245His)
|
rs397515011
|
0.00003
|
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)
|
rs777988634
|
0.00002
|
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)
|
rs776395163
|
0.00002
|
NM_000548.5(TSC2):c.1257+8C>A
|
rs767392684
|
0.00002
|
NM_000548.5(TSC2):c.1258-16G>T
|
rs979174870
|
0.00002
|
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)
|
rs374371998
|
0.00002
|
NM_000548.5(TSC2):c.1785G>A (p.Gln595=)
|
rs150352976
|
0.00002
|
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=)
|
rs367553206
|
0.00002
|
NM_000548.5(TSC2):c.1977C>T (p.Thr659=)
|
rs369065703
|
0.00002
|
NM_000548.5(TSC2):c.226-13C>T
|
rs886038353
|
0.00002
|
NM_000548.5(TSC2):c.2639+11G>A
|
rs1057520919
|
0.00002
|
NM_000548.5(TSC2):c.2742+4G>A
|
rs587781683
|
0.00002
|
NM_000548.5(TSC2):c.2966+19G>T
|
rs377514748
|
0.00002
|
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)
|
rs753730009
|
0.00002
|
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)
|
rs149098424
|
0.00002
|
NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg)
|
rs776855601
|
0.00002
|
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=)
|
rs201305783
|
0.00002
|
NM_000548.5(TSC2):c.3610+4C>T
|
rs201978396
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu)
|
rs776049462
|
0.00002
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
NM_000548.5(TSC2):c.411C>T (p.His137=)
|
rs776129896
|
0.00002
|
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=)
|
rs1057521540
|
0.00002
|
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu)
|
rs45517335
|
0.00002
|
NM_000548.5(TSC2):c.4494-11dup
|
rs770333078
|
0.00002
|
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)
|
rs377377367
|
0.00002
|
NM_000548.5(TSC2):c.4662+16C>T
|
rs45517356
|
0.00002
|
NM_000548.5(TSC2):c.4849+18C>T
|
rs45517374
|
0.00002
|
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)
|
rs45482398
|
0.00002
|
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)
|
rs1376515823
|
0.00002
|
NM_000548.5(TSC2):c.5160+7G>C
|
rs45506600
|
0.00002
|
NM_000548.5(TSC2):c.5161-8G>A
|
rs374674097
|
0.00002
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)
|
rs777006583
|
0.00002
|
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)
|
rs778484981
|
0.00002
|
NM_000548.5(TSC2):c.648+14C>T
|
rs941595244
|
0.00002
|
NM_000548.5(TSC2):c.657G>A (p.Leu219=)
|
rs768570301
|
0.00002
|
NM_000548.5(TSC2):c.663G>A (p.Val221=)
|
rs774115464
|
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.975+7C>T
|
rs372463702
|
0.00002
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.-29-18C>T
|
rs1319033169
|
0.00001
|
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497
|
0.00001
|
NM_000548.5(TSC2):c.1116C>T (p.Leu372=)
|
rs587780973
|
0.00001
|
NM_000548.5(TSC2):c.1257+14C>T
|
rs748972223
|
0.00001
|
NM_000548.5(TSC2):c.1361+13C>T
|
rs900870796
|
0.00001
|
NM_000548.5(TSC2):c.1361+20C>G
|
rs538626543
|
0.00001
|
NM_000548.5(TSC2):c.1362-5C>T
|
rs372424945
|
0.00001
|
NM_000548.5(TSC2):c.1455T>C (p.Ile485=)
|
rs1239743041
|
0.00001
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
NM_000548.5(TSC2):c.1473G>A (p.Ser491=)
|
rs764767361
|
0.00001
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
NM_000548.5(TSC2):c.1599+19G>A
|
rs777632769
|
0.00001
|
NM_000548.5(TSC2):c.1717-16C>T
|
rs45517191
|
0.00001
|
NM_000548.5(TSC2):c.1800C>T (p.His600=)
|
rs762782913
|
0.00001
|
NM_000548.5(TSC2):c.1839+10C>T
|
rs868388786
|
0.00001
|
NM_000548.5(TSC2):c.1911C>T (p.Val637=)
|
rs543584836
|
0.00001
|
NM_000548.5(TSC2):c.2028C>T (p.Gly676=)
|
rs1057520807
|
0.00001
|
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu)
|
rs376974525
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
0.00001
|
NM_000548.5(TSC2):c.2098-9T>C
|
rs755416873
|
0.00001
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe)
|
rs781153452
|
0.00001
|
NM_000548.5(TSC2):c.225+12C>A
|
rs886038352
|
0.00001
|
NM_000548.5(TSC2):c.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
NM_000548.5(TSC2):c.2355+5G>A
|
rs756995937
|
0.00001
|
NM_000548.5(TSC2):c.2355+6A>T
|
rs904030973
|
0.00001
|
NM_000548.5(TSC2):c.2355+8G>A
|
rs199558375
|
0.00001
|
NM_000548.5(TSC2):c.2415C>T (p.Val805=)
|
rs45517235
|
0.00001
|
NM_000548.5(TSC2):c.2416G>A (p.Val806Met)
|
rs796053473
|
0.00001
|
NM_000548.5(TSC2):c.2436C>T (p.Ser812=)
|
rs767178958
|
0.00001
|
NM_000548.5(TSC2):c.2546-4G>A
|
rs746958032
|
0.00001
|
NM_000548.5(TSC2):c.2568C>G (p.Leu856=)
|
rs886038354
|
0.00001
|
NM_000548.5(TSC2):c.2601T>C (p.Ser867=)
|
rs878854086
|
0.00001
|
NM_000548.5(TSC2):c.2743-16G>A
|
rs896016432
|
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.2778C>T (p.Asp926=)
|
rs776069297
|
0.00001
|
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp)
|
rs878854087
|
0.00001
|
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)
|
rs754276150
|
0.00001
|
NM_000548.5(TSC2):c.3131+8C>T
|
rs763702215
|
0.00001
|
NM_000548.5(TSC2):c.3284+20C>T
|
rs1057521477
|
0.00001
|
NM_000548.5(TSC2):c.3285-19C>T
|
rs45517291
|
0.00001
|
NM_000548.5(TSC2):c.336+10A>G
|
rs587778005
|
0.00001
|
NM_000548.5(TSC2):c.336+8C>T
|
rs779174834
|
0.00001
|
NM_000548.5(TSC2):c.3397+15C>T
|
rs202246408
|
0.00001
|
NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg)
|
rs772215032
|
0.00001
|
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val)
|
rs1057521812
|
0.00001
|
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)
|
rs767755750
|
0.00001
|
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=)
|
rs1358537146
|
0.00001
|
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=)
|
rs747862818
|
0.00001
|
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=)
|
rs876659207
|
0.00001
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln)
|
rs746588726
|
0.00001
|
NM_000548.5(TSC2):c.3814+10A>G
|
rs200309006
|
0.00001
|
NM_000548.5(TSC2):c.3814+15G>A
|
rs201225719
|
0.00001
|
NM_000548.5(TSC2):c.3815-18C>A
|
rs947736117
|
0.00001
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)
|
rs587778737
|
0.00001
|
NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp)
|
rs754680848
|
0.00001
|
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp)
|
rs747104864
|
0.00001
|
NM_000548.5(TSC2):c.408T>G (p.Leu136=)
|
rs1037058497
|
0.00001
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00001
|
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)
|
rs1057522238
|
0.00001
|
NM_000548.5(TSC2):c.429C>T (p.Phe143=)
|
rs137854406
|
0.00001
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00001
|
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)
|
rs774892845
|
0.00001
|
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val)
|
rs773527337
|
0.00001
|
NM_000548.5(TSC2):c.4570-3C>T
|
rs1166715944
|
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.482-17C>T
|
rs201589515
|
0.00001
|
NM_000548.5(TSC2):c.4989+12G>A
|
rs1343916460
|
0.00001
|
NM_000548.5(TSC2):c.4989+5G>A
|
rs1057522671
|
0.00001
|
NM_000548.5(TSC2):c.5097G>C (p.Val1699=)
|
rs397515314
|
0.00001
|
NM_000548.5(TSC2):c.5161-12C>G
|
rs1555440351
|
0.00001
|
NM_000548.5(TSC2):c.5199C>T (p.Thr1733=)
|
rs778378296
|
0.00001
|
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)
|
rs781407050
|
0.00001
|
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)
|
rs138831802
|
0.00001
|
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)
|
rs1051758
|
0.00001
|
NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly)
|
rs368083145
|
0.00001
|
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)
|
rs748947919
|
0.00001
|
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=)
|
rs747614356
|
0.00001
|
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg)
|
rs770117004
|
0.00001
|
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)
|
rs796053479
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys)
|
rs45517112
|
0.00001
|
NM_000548.5(TSC2):c.595G>C (p.Val199Leu)
|
rs587778733
|
0.00001
|
NM_000548.5(TSC2):c.599+10G>C
|
rs1037449903
|
0.00001
|
NM_000548.5(TSC2):c.648+17C>A
|
rs755431618
|
0.00001
|
NM_000548.5(TSC2):c.648+19C>T
|
rs1196860918
|
0.00001
|
NM_000548.5(TSC2):c.720C>T (p.Ile240=)
|
rs45517123
|
0.00001
|
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)
|
rs774526017
|
0.00001
|
NM_000548.5(TSC2):c.775-17C>T
|
rs137854299
|
0.00001
|
NM_000548.5(TSC2):c.83C>A (p.Pro28His)
|
rs1057522105
|
0.00001
|
NM_000548.5(TSC2):c.848+13G>T
|
rs1402619251
|
0.00001
|
NM_000548.5(TSC2):c.848+19G>A
|
rs1044793633
|
0.00001
|
NM_000548.5(TSC2):c.848+20C>T
|
rs1459744028
|
0.00001
|
NM_000548.5(TSC2):c.849-6T>G
|
rs886038358
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000548.5(TSC2):c.885C>T (p.Ala295=)
|
rs778296481
|
0.00001
|
NM_000548.5(TSC2):c.976-3C>T
|
rs45517151
|
0.00001
|
NM_000548.5(TSC2):c.*61_*62del
|
rs36032671
|
|
NM_000548.5(TSC2):c.-29-10G>C
|
rs28537973
|
|
NM_000548.5(TSC2):c.-29-17C>T
|
rs201044312
|
|
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)
|
rs1555500558
|
|
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)
|
rs1057524138
|
|
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg)
|
rs1555500581
|
|
NM_000548.5(TSC2):c.1202A>C (p.His401Pro)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1214A>T (p.Glu405Val)
|
rs1057518321
|
|
NM_000548.5(TSC2):c.1257+10C>T
|
rs756063576
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.138+14C>G
|
rs201204330
|
|
NM_000548.5(TSC2):c.138+16G>A
|
rs1555494744
|
|
NM_000548.5(TSC2):c.1422C>T (p.Leu474=)
|
rs565646854
|
|
NM_000548.5(TSC2):c.1443+14C>A
|
rs753454333
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.153A>G (p.Glu51=)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1600-14C>A
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-14C>T
|
rs45517185
|
|
NM_000548.5(TSC2):c.1716+15C>T
|
rs199964793
|
|
NM_000548.5(TSC2):c.1716+48C>G
|
rs200355157
|
|
NM_000548.5(TSC2):c.1717-15G>A
|
rs372949465
|
|
NM_000548.5(TSC2):c.1717-20G>T
|
rs1555505006
|
|
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=)
|
rs966102111
|
|
NM_000548.5(TSC2):c.1731C>G (p.Thr577=)
|
rs144122318
|
|
NM_000548.5(TSC2):c.1740A>C (p.Ala580=)
|
rs1057522755
|
|
NM_000548.5(TSC2):c.1791C>G (p.His597Gln)
|
rs886038350
|
|
NM_000548.5(TSC2):c.1824C>T (p.Ser608=)
|
rs886038351
|
|
NM_000548.5(TSC2):c.1839+20G>C
|
rs569912958
|
|
NM_000548.5(TSC2):c.1840-13C>G
|
rs1186556063
|
|
NM_000548.5(TSC2):c.1840-4A>G
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1868C>T (p.Ala623Val)
|
rs1057522306
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.1912G>A (p.Val638Met)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1946+14C>T
|
rs765322549
|
|
NM_000548.5(TSC2):c.2097+16_2097+20del
|
rs1064794392
|
|
NM_000548.5(TSC2):c.2098-5C>T
|
rs369072310
|
|
NM_000548.5(TSC2):c.2098-6T>C
|
rs1057523252
|
|
NM_000548.5(TSC2):c.2150T>A (p.Leu717Gln)
|
rs45517214
|
|
NM_000548.5(TSC2):c.2220+20del
|
rs1555506624
|
|
NM_000548.5(TSC2):c.2235G>A (p.Lys745=)
|
rs762162898
|
|
NM_000548.5(TSC2):c.225+19G>A
|
rs980875984
|
|
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)
|
rs562945619
|
|
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)
|
rs1555507478
|
|
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup)
|
rs1298756950
|
|
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser)
|
rs1596356675
|
|
NM_000548.5(TSC2):c.2545+18C>T
|
rs771970930
|
|
NM_000548.5(TSC2):c.2577C>T (p.Asn859=)
|
rs1555508337
|
|
NM_000548.5(TSC2):c.2622G>T (p.Pro874=)
|
rs141486629
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2639+14C>G
|
rs1057520927
|
|
NM_000548.5(TSC2):c.2639+44C>G
|
rs1800715
|
|
NM_000548.5(TSC2):c.2658G>A (p.Val886=)
|
rs1035837417
|
|
NM_000548.5(TSC2):c.2742+20A>C
|
rs1057521395
|
|
NM_000548.5(TSC2):c.2743-18G>A
|
rs199539512
|
|
NM_000548.5(TSC2):c.2743-19G>A
|
rs539121865
|
|
NM_000548.5(TSC2):c.2751G>A (p.Arg917=)
|
rs1555508897
|
|
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)
|
rs45517270
|
|
NM_000548.5(TSC2):c.2837+5G>A
|
rs786203791
|
|
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2946G>C (p.Val982=)
|
rs771332931
|
|
NM_000548.5(TSC2):c.2982C>A (p.Ser994=)
|
rs1555510188
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu)
|
rs368878445
|
|
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=)
|
rs36078782
|
|
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.31_33delinsCTA (p.Leu11=)
|
rs1064794201
|
|
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=)
|
rs1555510717
|
|
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)
|
rs796053474
|
|
NM_000548.5(TSC2):c.336+103del
|
rs587778006
|
|
NM_000548.5(TSC2):c.336+197C>G
|
rs587778007
|
|
NM_000548.5(TSC2):c.336+33G>T
|
rs45517104
|
|
NM_000548.5(TSC2):c.339C>T (p.Gly113=)
|
rs368451664
|
|
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)
|
rs796053513
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-4G>T
|
rs368926908
|
|
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=)
|
rs181279399
|
|
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)
|
rs1207714822
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.3883+15_3883+16del
|
rs137854278
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-32C>T
|
rs886038355
|
|
NM_000548.5(TSC2):c.3884-37A>T
|
rs886038356
|
|
NM_000548.5(TSC2):c.3884-7C>T
|
rs1277989059
|
|
NM_000548.5(TSC2):c.3913_3916delinsTGGA (p.Pro1305_Gly1306delinsTrpSer)
|
rs587778735
|
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr)
|
rs1248093496
|
|
NM_000548.5(TSC2):c.4005+4_4005+7dup
|
rs796053519
|
|
NM_000548.5(TSC2):c.4006-12G>A
|
rs1057524490
|
|
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del)
|
rs878854100
|
|
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp)
|
rs752502287
|
|
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=)
|
rs1555514056
|
|
NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser)
|
rs1057520843
|
|
NM_000548.5(TSC2):c.4167C>G (p.Pro1389=)
|
rs45508504
|
|
NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn)
|
rs762368225
|
|
NM_000548.5(TSC2):c.4335G>T (p.Leu1445Phe)
|
rs587778739
|
|
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=)
|
rs376086638
|
|
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
|
rs777529733
|
|
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)
|
rs587778740
|
|
NM_000548.5(TSC2):c.4494-15C>G
|
rs993595235
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4569+46C>T
|
rs45482793
|
|
NM_000548.5(TSC2):c.4569+47G>A
|
rs45517351
|
|
NM_000548.5(TSC2):c.4663-16_4663-15del
|
rs796053477
|
|
NM_000548.5(TSC2):c.4663-5C>A
|
|
|
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=)
|
rs1057523304
|
|
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.482-20T>A
|
rs548831116
|
|
NM_000548.5(TSC2):c.4849+20C>T
|
rs140884776
|
|
NM_000548.5(TSC2):c.4849+3A>G
|
rs1057521378
|
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
|
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4917C>T (p.Arg1639=)
|
rs1057524144
|
|
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4947C>G (p.Val1649=)
|
rs778989782
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5069-26_5069-6delinsGCCAAGAG
|
rs1555439968
|
|
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.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)
|
rs45517396
|
|
NM_000548.5(TSC2):c.5161-10A>G
|
rs1800718
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5175G>A (p.Val1725=)
|
rs886038357
|
|
NM_000548.5(TSC2):c.5260-25C>G
|
rs13332222
|
|
NM_000548.5(TSC2):c.5303T>A (p.Val1768Glu)
|
rs1171556696
|
|
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=)
|
rs751622894
|
|
NM_000548.5(TSC2):c.5324_5325dup (p.Ala1776fs)
|
rs2151639909
|
|
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro)
|
rs989487316
|
|
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=)
|
rs1057522896
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
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.593T>C (p.Met198Thr)
|
rs45517114
|
|
NM_000548.5(TSC2):c.599+3A>T
|
rs397514899
|
|
NM_000548.5(TSC2):c.726C>T (p.Thr242=)
|
rs570051626
|
|
NM_000548.5(TSC2):c.775-14_775-13del
|
rs1555499015
|
|
NM_000548.5(TSC2):c.775-16G>C
|
rs1359566041
|
|
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp)
|
rs1057523424
|
|
NM_000548.5(TSC2):c.831C>T (p.Cys277=)
|
rs1057523424
|
|
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)
|
rs587778734
|
|
NM_000548.5(TSC2):c.861G>A (p.Glu287=)
|
rs192567788
|
|
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)
|
rs137853986
|
|
NM_000548.5(TSC2):c.955G>T (p.Val319Leu)
|
|
|
NM_000548.5(TSC2):c.956T>A (p.Val319Glu)
|
rs1555499785
|
|
NM_000548.5(TSC2):c.975+16T>C
|
rs769084318
|
|