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_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.20073
|
NM_000548.5(TSC2):c.5260-49C>T
|
rs13332221
|
0.19533
|
NM_000368.5(TSC1):c.1439-37C>T
|
rs10901220
|
0.16021
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_000368.5(TSC1):c.1142-33A>G
|
rs6597586
|
0.15388
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_000548.5(TSC2):c.2221-28A>G
|
rs7196184
|
0.11019
|
NM_000368.5(TSC1):c.1334-55C>G
|
rs7872606
|
0.09429
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
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.4849+97del
|
rs142421783
|
0.05406
|
NM_000548.5(TSC2):c.3884-56C>G
|
rs1800724
|
0.05069
|
NM_000368.5(TSC1):c.2502+51A>G
|
rs75802666
|
0.04894
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_000548.5(TSC2):c.976-63G>A
|
rs12927333
|
0.04770
|
NM_000548.5(TSC2):c.3610+42dup
|
rs397515119
|
0.04010
|
NM_000548.5(TSC2):c.*26G>A
|
rs13332015
|
0.03592
|
NM_000368.5(TSC1):c.*913C>T
|
rs117425923
|
0.03547
|
NM_000548.5(TSC2):c.3883+78G>A
|
rs1800705
|
0.02672
|
NM_000368.5(TSC1):c.*1487C>T
|
rs79277527
|
0.02671
|
NM_000368.5(TSC1):c.2976-43G>C
|
rs7853849
|
0.02474
|
NM_000368.5(TSC1):c.*107T>C
|
rs116917669
|
0.02353
|
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.*127T>C
|
rs34379884
|
0.01718
|
NM_000368.5(TSC1):c.*1468C>T
|
rs72759433
|
0.01681
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000548.5(TSC2):c.4849+76G>A
|
rs144647393
|
0.01219
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
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.4569+44C>T
|
rs142227748
|
0.00905
|
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_000368.5(TSC1):c.2976-54G>A
|
rs118203740
|
0.00757
|
NM_000548.5(TSC2):c.600-84C>T
|
rs35364892
|
0.00754
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_000368.5(TSC1):c.210+33G>A
|
rs118203350
|
0.00695
|
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.2545+31C>T
|
rs45517243
|
0.00548
|
NM_000548.5(TSC2):c.1258-32dup
|
rs397515240
|
0.00527
|
NM_000548.5(TSC2):c.648+117C>G
|
rs45460197
|
0.00501
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
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.2220+25G>C
|
rs149860839
|
0.00414
|
NM_000548.5(TSC2):c.1362-32C>G
|
rs45517166
|
0.00391
|
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_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
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_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_000368.5(TSC1):c.1263+88A>G
|
rs118203507
|
0.00250
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
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_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00187
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
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_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
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.2356-63A>C
|
rs45517230
|
0.00121
|
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_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
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.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_000368.5(TSC1):c.552G>C (p.Val184=)
|
rs118203397
|
0.00079
|
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.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00070
|
NM_000548.5(TSC2):c.482-59G>A
|
rs200833855
|
0.00070
|
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_000368.5(TSC1):c.*358C>T
|
rs147729052
|
0.00066
|
NM_000548.5(TSC2):c.2742+13C>T
|
rs45517260
|
0.00065
|
NM_000548.5(TSC2):c.5068+40G>A
|
rs185211341
|
0.00061
|
NM_000548.5(TSC2):c.3284+45G>A
|
rs140027616
|
0.00059
|
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_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000548.5(TSC2):c.138+20C>G
|
rs45517092
|
0.00041
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
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_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000548.5(TSC2):c.1444-40G>A
|
rs45460191
|
0.00035
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000548.5(TSC2):c.2097+35G>A
|
rs45517211
|
0.00033
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000548.5(TSC2):c.849-24C>T
|
rs373618207
|
0.00031
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
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.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_000548.5(TSC2):c.2837+80C>T
|
rs137854131
|
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_000368.5(TSC1):c.1264-12T>C
|
rs118203508
|
0.00025
|
NM_000368.5(TSC1):c.1998-53G>A
|
rs368679682
|
0.00025
|
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)
|
rs118203723
|
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_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000548.5(TSC2):c.4663-38_4663-18dup
|
rs137854102
|
0.00023
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.2837+11dup
|
rs137854204
|
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.4006-30_4006-29del
|
rs397515235
|
0.00021
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000548.5(TSC2):c.1119+23G>A
|
rs180840428
|
0.00019
|
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.3814+56C>T
|
rs45517312
|
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_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
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.4493+18G>A
|
rs45454201
|
0.00017
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.663+29A>G
|
rs376472527
|
0.00016
|
NM_000548.5(TSC2):c.2639+42C>T
|
rs201973730
|
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.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)
|
rs137854215
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.649-26G>T
|
rs201910214
|
0.00015
|
NM_000368.5(TSC1):c.1333+13C>T
|
rs118203516
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
NM_000548.5(TSC2):c.1362-70A>C
|
rs45517168
|
0.00013
|
NM_000548.5(TSC2):c.2097+28G>A
|
rs397514882
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000548.5(TSC2):c.5160+23G>A
|
rs368565375
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
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.4493+16C>G
|
rs45491597
|
0.00012
|
NM_000368.5(TSC1):c.210+18A>G
|
rs118203349
|
0.00011
|
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)
|
rs118203692
|
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.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
NM_000548.5(TSC2):c.5069-21G>A
|
rs45517390
|
0.00011
|
NM_000368.5(TSC1):c.-16G>A
|
rs114970627
|
0.00010
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000548.5(TSC2):c.1717-27G>A
|
rs45517194
|
0.00010
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000548.5(TSC2):c.1717-28C>T
|
rs45517195
|
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.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00009
|
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro)
|
rs118203548
|
0.00008
|
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)
|
rs45517188
|
0.00008
|
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.4569+12C>T
|
rs45517350
|
0.00008
|
NM_000548.5(TSC2):c.4662+18G>A
|
rs45517357
|
0.00008
|
NM_000548.5(TSC2):c.4849+48C>T
|
rs376861903
|
0.00008
|
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)
|
rs367963898
|
0.00007
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_000548.5(TSC2):c.3815-27G>A
|
rs137854008
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00006
|
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=)
|
rs45478393
|
0.00006
|
NM_000548.5(TSC2):c.363C>T (p.Ala121=)
|
rs45517106
|
0.00006
|
NM_000548.5(TSC2):c.4006-21C>T
|
rs397515012
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00006
|
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)
|
rs45517130
|
0.00006
|
NM_000368.5(TSC1):c.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00005
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)
|
rs377076733
|
0.00005
|
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.2750G>A (p.Arg917Gln)
|
rs397515046
|
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.4849+12C>T
|
rs45517373
|
0.00005
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00004
|
NM_000368.5(TSC1):c.2814-27A>G
|
rs118203738
|
0.00004
|
NM_000368.5(TSC1):c.738-20A>G
|
rs397514824
|
0.00004
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
0.00004
|
NM_000548.5(TSC2):c.1752G>A (p.Thr584=)
|
rs141285742
|
0.00004
|
NM_000548.5(TSC2):c.2545+10C>T
|
rs45517241
|
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.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.3225C>T (p.Thr1075=)
|
rs374145104
|
0.00004
|
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)
|
rs397514945
|
0.00004
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00004
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)
|
rs45444196
|
0.00004
|
NM_000548.5(TSC2):c.5161-4C>G
|
rs45517406
|
0.00004
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
NM_000548.5(TSC2):c.975+8G>A
|
rs137853984
|
0.00004
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00003
|
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)
|
rs397514881
|
0.00003
|
NM_000548.5(TSC2):c.1716+28C>A
|
rs371524563
|
0.00003
|
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)
|
rs45517206
|
0.00003
|
NM_000548.5(TSC2):c.201C>T (p.Val67=)
|
rs45460096
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
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.2743-11C>T
|
rs137854426
|
0.00003
|
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser)
|
rs397515104
|
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.3132-16G>A
|
rs199572528
|
0.00003
|
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)
|
rs45517286
|
0.00003
|
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu)
|
rs45473098
|
0.00003
|
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val)
|
rs397514901
|
0.00003
|
NM_000548.5(TSC2):c.3610+25G>C
|
rs45517300
|
0.00003
|
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=)
|
rs137854268
|
0.00003
|
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)
|
rs137854391
|
0.00003
|
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)
|
rs45508504
|
0.00003
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_000548.5(TSC2):c.4493+25G>T
|
rs397514890
|
0.00003
|
NM_000548.5(TSC2):c.4663-14C>T
|
rs397515174
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.4854C>T (p.Val1618=)
|
rs45517378
|
0.00003
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)
|
rs45517113
|
0.00003
|
NM_000548.5(TSC2):c.734G>A (p.Arg245His)
|
rs397515011
|
0.00003
|
NM_000368.5(TSC1):c.126A>C (p.Val42=)
|
rs118203335
|
0.00002
|
NM_000368.5(TSC1):c.1439-25C>A
|
rs397514813
|
0.00002
|
NM_000368.5(TSC1):c.1584C>T (p.Gly528=)
|
rs149439187
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
NM_000548.5(TSC2):c.1444-13T>C
|
rs45447093
|
0.00002
|
NM_000548.5(TSC2):c.1600-21G>C
|
rs137854149
|
0.00002
|
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)
|
rs753932484
|
0.00002
|
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met)
|
rs397514985
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
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.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.5160+7G>C
|
rs45506600
|
0.00002
|
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=)
|
rs397515252
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000548.5(TSC2):c.993C>T (p.Asn331=)
|
rs45517153
|
0.00002
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.2208+23G>A
|
rs118203658
|
0.00001
|
NM_000368.5(TSC1):c.2226A>G (p.Leu742=)
|
rs397514878
|
0.00001
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
NM_000368.5(TSC1):c.2503-21T>C
|
rs118203703
|
0.00001
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
NM_000368.5(TSC1):c.2976-18T>C
|
rs397514866
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)
|
rs118203752
|
0.00001
|
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)
|
rs118203753
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)
|
rs397514843
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000368.5(TSC1):c.966G>A (p.Met322Ile)
|
rs397514807
|
0.00001
|
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)
|
rs397515146
|
0.00001
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala)
|
rs45517093
|
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.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.1717-16C>T
|
rs45517191
|
0.00001
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile)
|
rs397514964
|
0.00001
|
NM_000548.5(TSC2):c.1946+60G>C
|
rs45491895
|
0.00001
|
NM_000548.5(TSC2):c.2415C>T (p.Val805=)
|
rs45517235
|
0.00001
|
NM_000548.5(TSC2):c.2631C>T (p.Asn877=)
|
rs45517251
|
0.00001
|
NM_000548.5(TSC2):c.2639+15C>T
|
rs397515299
|
0.00001
|
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys)
|
rs45517269
|
0.00001
|
NM_000548.5(TSC2):c.2837+16G>A
|
rs397515095
|
0.00001
|
NM_000548.5(TSC2):c.3285-19C>T
|
rs45517291
|
0.00001
|
NM_000548.5(TSC2):c.3285-31G>A
|
rs397515248
|
0.00001
|
NM_000548.5(TSC2):c.336+30G>A
|
rs45503094
|
0.00001
|
NM_000548.5(TSC2):c.336+61C>T
|
rs397514989
|
0.00001
|
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu)
|
rs397515162
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys)
|
rs137854353
|
0.00001
|
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)
|
rs45517311
|
0.00001
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)
|
rs45517314
|
0.00001
|
NM_000548.5(TSC2):c.3883+5C>T
|
rs45448994
|
0.00001
|
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)
|
rs45448791
|
0.00001
|
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys)
|
rs45469392
|
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.4569+7G>C
|
rs45497598
|
0.00001
|
NM_000548.5(TSC2):c.4663-43G>A
|
rs45517359
|
0.00001
|
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)
|
rs45517363
|
0.00001
|
NM_000548.5(TSC2):c.4850-14C>G
|
rs397515189
|
0.00001
|
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)
|
rs137854315
|
0.00001
|
NM_000548.5(TSC2):c.5069-22C>T
|
rs137854338
|
0.00001
|
NM_000548.5(TSC2):c.5097G>C (p.Val1699=)
|
rs397515314
|
0.00001
|
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)
|
rs45474691
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=)
|
rs397514955
|
0.00001
|
NM_000548.5(TSC2):c.573C>T (p.Leu191=)
|
rs397515059
|
0.00001
|
NM_000548.5(TSC2):c.600-13G>C
|
rs45517116
|
0.00001
|
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)
|
rs45506197
|
0.00001
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)
|
rs397514957
|
0.00001
|
NM_000548.5(TSC2):c.720C>T (p.Ile240=)
|
rs45517123
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000548.5(TSC2):c.871C>T (p.Leu291=)
|
rs45517137
|
0.00001
|
NM_000368.4(TSC1):c.1030delG
|
rs118203486
|
|
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
|
|
|
NM_000368.4(TSC1):c.2626_2975del
|
|
|
NM_000368.4(TSC1):c.2626_3495del
|
|
|
NM_000368.5(TSC1):c.*1332C>T
|
rs397514841
|
|
NM_000368.5(TSC1):c.*1396T>C
|
rs397514790
|
|
NM_000368.5(TSC1):c.*2230A>G
|
rs397514781
|
|
NM_000368.5(TSC1):c.*2641G>T
|
rs397514827
|
|
NM_000368.5(TSC1):c.*2893del
|
rs143549363
|
|
NM_000368.5(TSC1):c.*3258G>C
|
rs397514877
|
|
NM_000368.5(TSC1):c.*3260G>C
|
rs397514782
|
|
NM_000368.5(TSC1):c.*361C>T
|
rs397514844
|
|
NM_000368.5(TSC1):c.*3935C>T
|
rs397514787
|
|
NM_000368.5(TSC1):c.*3936C>T
|
rs397514853
|
|
NM_000368.5(TSC1):c.*4591G>T
|
rs397514821
|
|
NM_000368.5(TSC1):c.-80-51del
|
rs1227429293
|
|
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1007_1016del (p.Arg336fs)
|
rs397514849
|
|
NM_000368.5(TSC1):c.1020del (p.Glu340fs)
|
rs118203484
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1030-1G>A
|
rs118203489
|
|
NM_000368.5(TSC1):c.1030-3C>G
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-9A>G
|
rs118203487
|
|
NM_000368.5(TSC1):c.1040G>A (p.Trp347Ter)
|
rs118203490
|
|
NM_000368.5(TSC1):c.106+47A>C
|
rs373390352
|
|
NM_000368.5(TSC1):c.107-2A>G
|
rs118203332
|
|
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs)
|
rs118203494
|
|
NM_000368.5(TSC1):c.109dup (p.Arg37fs)
|
rs118203333
|
|
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs)
|
rs118203495
|
|
NM_000368.5(TSC1):c.1105C>T (p.Leu369=)
|
rs118203496
|
|
NM_000368.5(TSC1):c.1110dup (p.His371fs)
|
rs118203497
|
|
NM_000368.5(TSC1):c.1112_1113dup (p.Pro372fs)
|
rs118203498
|
|
NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter)
|
rs118203499
|
|
NM_000368.5(TSC1):c.1141+1G>T
|
rs397514819
|
|
NM_000368.5(TSC1):c.1152del (p.Gly385fs)
|
rs118203501
|
|
NM_000368.5(TSC1):c.1166del (p.Gly389fs)
|
rs397514832
|
|
NM_000368.5(TSC1):c.1196_1209del (p.Pro399fs)
|
rs118203502
|
|
NM_000368.5(TSC1):c.1203del (p.His402fs)
|
rs118203503
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1249del (p.Thr417fs)
|
rs397514792
|
|
NM_000368.5(TSC1):c.1250del (p.Thr417fs)
|
rs397514778
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1279del (p.Ser427fs)
|
rs118203510
|
|
NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter)
|
rs118203511
|
|
NM_000368.5(TSC1):c.130dup (p.Thr44fs)
|
rs118203336
|
|
NM_000368.5(TSC1):c.131_132dup (p.Leu45fs)
|
rs118203337
|
|
NM_000368.5(TSC1):c.1331C>A (p.Ser444Ter)
|
rs118203512
|
|
NM_000368.5(TSC1):c.1331C>G (p.Ser444Ter)
|
rs118203512
|
|
NM_000368.5(TSC1):c.1333+1dup
|
rs118203514
|
|
NM_000368.5(TSC1):c.1338del (p.Glu446fs)
|
rs118203517
|
|
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu)
|
rs397514848
|
|
NM_000368.5(TSC1):c.1361_1398del (p.Val454fs)
|
rs118203520
|
|
NM_000368.5(TSC1):c.1364del (p.Thr455fs)
|
rs118203521
|
|
NM_000368.5(TSC1):c.1366_1367del (p.Leu456fs)
|
rs397514798
|
|
NM_000368.5(TSC1):c.1366_1367insGA (p.Leu456fs)
|
rs118203522
|
|
NM_000368.5(TSC1):c.1368A>C (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1369del (p.Ser457fs)
|
rs118203523
|
|
NM_000368.5(TSC1):c.1371T>C (p.Ser457=)
|
rs118203524
|
|
NM_000368.5(TSC1):c.1379del (p.Pro460fs)
|
rs118203525
|
|
NM_000368.5(TSC1):c.1411_1412insT (p.Asp471fs)
|
rs118203526
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1431dup (p.Glu478fs)
|
rs397514858
|
|
NM_000368.5(TSC1):c.1432_1433dup (p.Glu479fs)
|
rs118203528
|
|
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly)
|
rs118203529
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-2A>G
|
rs118203531
|
|
NM_000368.5(TSC1):c.1439-2A>T
|
rs118203531
|
|
NM_000368.5(TSC1):c.1452del (p.Glu485fs)
|
rs397514797
|
|
NM_000368.5(TSC1):c.145del (p.Tyr49fs)
|
rs118203339
|
|
NM_000368.5(TSC1):c.1462G>T (p.Glu488Ter)
|
rs118203533
|
|
NM_000368.5(TSC1):c.146del (p.Tyr49fs)
|
rs397514861
|
|
NM_000368.5(TSC1):c.1470del (p.Thr491fs)
|
rs118203534
|
|
NM_000368.5(TSC1):c.1481dup (p.Glu495fs)
|
rs118203535
|
|
NM_000368.5(TSC1):c.148del (p.Leu50fs)
|
rs118203340
|
|
NM_000368.5(TSC1):c.1490_1491del (p.Val497fs)
|
rs118203536
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln)
|
rs118203538
|
|
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro)
|
rs118203341
|
|
NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter)
|
rs118203539
|
|
NM_000368.5(TSC1):c.1503del (p.Gly502fs)
|
rs397514876
|
|
NM_000368.5(TSC1):c.1515_1516dup (p.Pro506fs)
|
rs281875358
|
|
NM_000368.5(TSC1):c.1515dup (p.Pro506fs)
|
rs118203540
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs)
|
rs118203544
|
|
NM_000368.5(TSC1):c.1533del (p.Leu512fs)
|
rs118203545
|
|
NM_000368.5(TSC1):c.1535_1536del (p.Leu512fs)
|
rs397514823
|
|
NM_000368.5(TSC1):c.1542_1543insG (p.Ser515fs)
|
rs118203546
|
|
NM_000368.5(TSC1):c.1559del (p.His520fs)
|
rs118203547
|
|
NM_000368.5(TSC1):c.1572C>G (p.Ser524=)
|
rs397514810
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1615del (p.Ser539fs)
|
rs118203551
|
|
NM_000368.5(TSC1):c.1631_1647del (p.Gly544fs)
|
rs118203552
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1662del (p.Pro554_Ile555insTer)
|
rs118203554
|
|
NM_000368.5(TSC1):c.1664del (p.Ile555fs)
|
rs397514829
|
|
NM_000368.5(TSC1):c.1669C>T (p.Leu557=)
|
rs118203555
|
|
NM_000368.5(TSC1):c.1669del (p.Leu557fs)
|
rs118203556
|
|
NM_000368.5(TSC1):c.1676dup (p.Cys559fs)
|
rs118203558
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1683_1705dup (p.Asp569fs)
|
rs118203560
|
|
NM_000368.5(TSC1):c.1687del (p.Asp563fs)
|
rs118203561
|
|
NM_000368.5(TSC1):c.1692_1693del (p.Ser565fs)
|
rs118203562
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1703dup (p.Asp569fs)
|
rs397514777
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.1717C>T (p.Gln573Ter)
|
rs118203565
|
|
NM_000368.5(TSC1):c.1724C>T (p.Ser575Phe)
|
rs118203566
|
|
NM_000368.5(TSC1):c.1727_1742del (p.Leu576fs)
|
rs118203568
|
|
NM_000368.5(TSC1):c.1729G>T (p.Glu577Ter)
|
rs118203570
|
|
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp)
|
rs118203571
|
|
NM_000368.5(TSC1):c.1736del (p.Ser579fs)
|
rs118203572
|
|
NM_000368.5(TSC1):c.1746dup (p.Pro583fs)
|
rs118203573
|
|
NM_000368.5(TSC1):c.1749_1750del (p.Pro585fs)
|
rs118203574
|
|
NM_000368.5(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer)
|
rs118203575
|
|
NM_000368.5(TSC1):c.1757_1768delinsCA (p.Cys586fs)
|
rs397514857
|
|
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)
|
rs397514846
|
|
NM_000368.5(TSC1):c.1761A>G (p.Lys587=)
|
rs118203577
|
|
NM_000368.5(TSC1):c.1766del (p.Pro589fs)
|
rs397514811
|
|
NM_000368.5(TSC1):c.1767A>G (p.Pro589=)
|
rs118203578
|
|
NM_000368.5(TSC1):c.1773_1774dup (p.Thr592fs)
|
rs118203579
|
|
NM_000368.5(TSC1):c.1776G>T (p.Thr592=)
|
rs118203580
|
|
NM_000368.5(TSC1):c.1777A>T (p.Arg593Ter)
|
rs118203581
|
|
NM_000368.5(TSC1):c.1788del (p.Phe596fs)
|
rs118203582
|
|
NM_000368.5(TSC1):c.1791_1792dup (p.Ser598fs)
|
rs118203583
|
|
NM_000368.5(TSC1):c.1792dup (p.Ser598fs)
|
rs118203583
|
|
NM_000368.5(TSC1):c.181_189del (p.Thr62_Leu64del)
|
rs118203344
|
|
NM_000368.5(TSC1):c.1823_1824del (p.Leu607_Phe608insTer)
|
rs118203585
|
|
NM_000368.5(TSC1):c.1823_1824dup (p.Glu609fs)
|
rs118203585
|
|
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)
|
rs118203587
|
|
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)
|
rs118203345
|
|
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)
|
rs118203345
|
|
NM_000368.5(TSC1):c.1839A>G (p.Pro613=)
|
rs118203588
|
|
NM_000368.5(TSC1):c.1841del (p.Lys614fs)
|
rs118203589
|
|
NM_000368.5(TSC1):c.1849C>G (p.His617Asp)
|
rs397514854
|
|
NM_000368.5(TSC1):c.1851del (p.His618fs)
|
rs118203590
|
|
NM_000368.5(TSC1):c.1857del (p.Phe619fs)
|
rs118203591
|
|
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1883T>A (p.Leu628Ter)
|
rs118203592
|
|
NM_000368.5(TSC1):c.1883T>G (p.Leu628Ter)
|
rs118203592
|
|
NM_000368.5(TSC1):c.1884_1905del (p.Lys629fs)
|
rs397514796
|
|
NM_000368.5(TSC1):c.1886del (p.Lys629fs)
|
rs118203594
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1890dup (p.Ala631fs)
|
rs118203596
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1911del (p.Asp638fs)
|
rs397514801
|
|
NM_000368.5(TSC1):c.191_199del (p.Leu64_Pro67delinsSer)
|
rs118203346
|
|
NM_000368.5(TSC1):c.1942del (p.Val648fs)
|
rs118203600
|
|
NM_000368.5(TSC1):c.1955_1956del (p.Leu652fs)
|
rs118203601
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1964del (p.Gln655fs)
|
rs397514793
|
|
NM_000368.5(TSC1):c.1968A>C (p.Gly656=)
|
rs118203607
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1997+17C>G
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+1G>C
|
rs118203610
|
|
NM_000368.5(TSC1):c.1998-1G>A
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-1G>C
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-54C>T
|
rs118203613
|
|
NM_000368.5(TSC1):c.1998G>A (p.Lys666=)
|
rs118203616
|
|
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2022C>T (p.Val674=)
|
rs118203618
|
|
NM_000368.5(TSC1):c.2022del (p.Asp675fs)
|
rs118203619
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)
|
rs118203621
|
|
NM_000368.5(TSC1):c.2030_2040del (p.Thr677fs)
|
rs118203622
|
|
NM_000368.5(TSC1):c.2033_2041+14del
|
rs397514817
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
|
NM_000368.5(TSC1):c.2041+1G>A
|
rs397514842
|
|
NM_000368.5(TSC1):c.2041+2T>A
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041+2T>C
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)
|
rs118203624
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.2046_2047del (p.Pro683fs)
|
rs397514869
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter)
|
rs118203629
|
|
NM_000368.5(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer)
|
rs118203630
|
|
NM_000368.5(TSC1):c.2070_2097dup (p.Asn700fs)
|
rs1554815323
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2082del (p.Gln694fs)
|
rs118203632
|
|
NM_000368.5(TSC1):c.2090del (p.Leu697fs)
|
rs118203633
|
|
NM_000368.5(TSC1):c.2093T>G (p.Leu698Arg)
|
rs397514802
|
|
NM_000368.5(TSC1):c.2094del (p.His699fs)
|
rs118203634
|
|
NM_000368.5(TSC1):c.2097dup (p.Asn700fs)
|
rs118203635
|
|
NM_000368.5(TSC1):c.210+1G>A
|
rs118203348
|
|
NM_000368.5(TSC1):c.2101_2102del (p.Gln701fs)
|
rs118203637
|
|
NM_000368.5(TSC1):c.2101_2107del (p.Gln701fs)
|
rs397514791
|
|
NM_000368.5(TSC1):c.2101del (p.Gln701fs)
|
rs118203636
|
|
NM_000368.5(TSC1):c.2103G>T (p.Gln701His)
|
rs118203639
|
|
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2103_2109dup (p.Tyr704fs)
|
rs118203641
|
|
NM_000368.5(TSC1):c.2106_2107insGTTTA (p.Leu703fs)
|
rs118203642
|
|
NM_000368.5(TSC1):c.2106delinsGT (p.Leu703fs)
|
rs397514838
|
|
NM_000368.5(TSC1):c.2109_2110del (p.Leu703_Tyr704insTer)
|
rs118203643
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
NM_000368.5(TSC1):c.211-16T>C
|
rs118203351
|
|
NM_000368.5(TSC1):c.211-1G>A
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-1G>T
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-2A>C
|
rs118203352
|
|
NM_000368.5(TSC1):c.2110dup (p.Tyr704fs)
|
rs118203644
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)
|
rs397514874
|
|
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2135_2139del (p.His712fs)
|
rs118203648
|
|
NM_000368.5(TSC1):c.2145del (p.Asn716fs)
|
rs118203650
|
|
NM_000368.5(TSC1):c.2146_2153dup (p.Leu719fs)
|
rs397514803
|
|
NM_000368.5(TSC1):c.2151dup (p.Arg718fs)
|
rs118203651
|
|
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)
|
rs118203354
|
|
NM_000368.5(TSC1):c.2164A>T (p.Lys722Ter)
|
rs397514772
|
|
NM_000368.5(TSC1):c.2169del (p.Ile724fs)
|
rs118203652
|
|
NM_000368.5(TSC1):c.2173_2176del (p.Lys725fs)
|
rs118203653
|
|
NM_000368.5(TSC1):c.2175dup (p.Ala726fs)
|
rs118203654
|
|
NM_000368.5(TSC1):c.2177C>A (p.Ala726Glu)
|
rs118203655
|
|
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)
|
rs397514820
|
|
NM_000368.5(TSC1):c.2191del (p.Glu731fs)
|
rs118203656
|
|
NM_000368.5(TSC1):c.2209-35A>G
|
rs118203659
|
|
NM_000368.5(TSC1):c.2209-9C>T
|
rs118203660
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)
|
rs118203662
|
|
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)
|
rs118203663
|
|
NM_000368.5(TSC1):c.2260C>T (p.Leu754=)
|
rs118203664
|
|
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs)
|
rs118203665
|
|
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
|
rs397514783
|
|
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn)
|
rs118203355
|
|
NM_000368.5(TSC1):c.2280_2295del (p.Tyr761fs)
|
rs118203666
|
|
NM_000368.5(TSC1):c.2281_2284dup (p.Asn762fs)
|
rs118203667
|
|
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2283C>G (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)
|
rs118203671
|
|
NM_000368.5(TSC1):c.2291del (p.Leu764fs)
|
rs118203672
|
|
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2298_2320del (p.Gln767fs)
|
rs118203674
|
|
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2317del (p.Thr773fs)
|
rs118203676
|
|
NM_000368.5(TSC1):c.2319del (p.Lys774fs)
|
rs118203677
|
|
NM_000368.5(TSC1):c.2328_2329del (p.His776fs)
|
rs118203678
|
|
NM_000368.5(TSC1):c.2329del (p.Ser777fs)
|
rs397514780
|
|
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter)
|
rs118203679
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs)
|
rs397514855
|
|
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)
|
rs118203681
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2357del (p.Arg786fs)
|
rs118203683
|
|
NM_000368.5(TSC1):c.2360_2364del (p.Glu787fs)
|
rs118203684
|
|
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)
|
rs118203685
|
|
NM_000368.5(TSC1):c.2364del (p.Glu788fs)
|
rs118203686
|
|
NM_000368.5(TSC1):c.2387dup (p.Leu796fs)
|
rs397514786
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2392-1G>A
|
rs397514822
|
|
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)
|
rs118203687
|
|
NM_000368.5(TSC1):c.2407del (p.Cys803fs)
|
rs118203688
|
|
NM_000368.5(TSC1):c.2412_2425del (p.Asn805fs)
|
rs118203689
|
|
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)
|
rs118203690
|
|
NM_000368.5(TSC1):c.2421dup (p.Ala808fs)
|
rs118203691
|
|
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2456_2459del (p.Asn819fs)
|
rs118203693
|
|
NM_000368.5(TSC1):c.2465_2466del (p.Cys822fs)
|
rs118203694
|
|
NM_000368.5(TSC1):c.2468_2469insG (p.His823fs)
|
rs118203696
|
|
NM_000368.5(TSC1):c.2468del (p.His823fs)
|
rs118203695
|
|
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer)
|
rs118203697
|
|
NM_000368.5(TSC1):c.2471_2472del (p.Thr824fs)
|
rs118203698
|
|
NM_000368.5(TSC1):c.2485A>T (p.Ser829Cys)
|
rs118203699
|
|
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)
|
rs118203700
|
|
NM_000368.5(TSC1):c.2501dup (p.Leu835fs)
|
rs118203701
|
|
NM_000368.5(TSC1):c.2503-1G>T
|
rs118203705
|
|
NM_000368.5(TSC1):c.2503-2A>G
|
rs118203704
|
|
NM_000368.5(TSC1):c.2503-35T>C
|
rs118203702
|
|
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)
|
rs118203706
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2510dup (p.Asn837fs)
|
rs118203709
|
|
NM_000368.5(TSC1):c.2521dup (p.Val841fs)
|
rs397514850
|
|
NM_000368.5(TSC1):c.2523C>T (p.Val841=)
|
rs397514825
|
|
NM_000368.5(TSC1):c.2528_2534del (p.Gln843fs)
|
rs118203710
|
|
NM_000368.5(TSC1):c.252dup (p.Thr85fs)
|
rs118203358
|
|
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)
|
rs118203711
|
|
NM_000368.5(TSC1):c.2569del (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.2569dup (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.2582del (p.Leu861fs)
|
rs397514865
|
|
NM_000368.5(TSC1):c.2595del (p.Gln865fs)
|
rs118203714
|
|
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
|
rs397514776
|
|
NM_000368.5(TSC1):c.260_261insGA (p.Ser88fs)
|
rs118203359
|
|
NM_000368.5(TSC1):c.2626-1G>A
|
rs397514847
|
|
NM_000368.5(TSC1):c.2626-2A>G
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-4T[17_21]
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2650dup (p.Tyr884fs)
|
rs118203722
|
|
NM_000368.5(TSC1):c.2652T>A (p.Tyr884Ter)
|
rs397514805
|
|
NM_000368.5(TSC1):c.2657_2658del (p.Lys886fs)
|
rs397514788
|
|
NM_000368.5(TSC1):c.2658del (p.Glu887fs)
|
rs397514788
|
|
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)
|
rs118203726
|
|
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
|
rs118203727
|
|
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2694del (p.Thr899fs)
|
rs118203729
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2699del (p.Gln900fs)
|
rs118203731
|
|
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
|
rs118203732
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter)
|
rs118203361
|
|
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)
|
rs397514873
|
|
NM_000368.5(TSC1):c.276_277insAA (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.276dup (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)
|
rs397514879
|
|
NM_000368.5(TSC1):c.2781_2784del (p.Lys927fs)
|
rs397514845
|
|
NM_000368.5(TSC1):c.2786_2787del (p.Tyr929fs)
|
rs118203734
|
|
NM_000368.5(TSC1):c.278T>G (p.Leu93Arg)
|
rs118203363
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2813+3_2813+21del
|
rs118203737
|
|
NM_000368.5(TSC1):c.2813_2813+4del
|
rs118203736
|
|
NM_000368.5(TSC1):c.2830_2831insGCCTG (p.Ala944fs)
|
rs118203739
|
|
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)
|
rs118203364
|
|
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)
|
rs118203365
|
|
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp)
|
rs397514831
|
|
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=)
|
rs118203748
|
|
NM_000368.5(TSC1):c.324_325del (p.Gln109fs)
|
rs397514795
|
|
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
|
rs397514774
|
|
NM_000368.5(TSC1):c.334_335dup (p.Leu113fs)
|
rs118203366
|
|
NM_000368.5(TSC1):c.338del (p.Leu113fs)
|
rs118203367
|
|
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)
|
rs118203368
|
|
NM_000368.5(TSC1):c.362A>G (p.Lys121Arg)
|
rs118203369
|
|
NM_000368.5(TSC1):c.363+1G>A
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1dup
|
rs118203371
|
|
NM_000368.5(TSC1):c.363+47T>C
|
rs118203375
|
|
NM_000368.5(TSC1):c.363+5G>A
|
rs118203374
|
|
NM_000368.5(TSC1):c.363G>A (p.Lys121=)
|
rs118203370
|
|
NM_000368.5(TSC1):c.364-1G>C
|
rs118203376
|
|
NM_000368.5(TSC1):c.372dup (p.Asp125Ter)
|
rs118203377
|
|
NM_000368.5(TSC1):c.381_383del (p.Val128del)
|
rs118203378
|
|
NM_000368.5(TSC1):c.385dup (p.Leu129fs)
|
rs397514852
|
|
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
|
rs397514784
|
|
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)
|
rs118203380
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.397G>T (p.Val133Phe)
|
rs118203381
|
|
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)
|
rs118203382
|
|
NM_000368.5(TSC1):c.433_434del (p.Gln145fs)
|
rs118203383
|
|
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)
|
rs118203384
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.504del (p.Lys168fs)
|
rs118203389
|
|
NM_000368.5(TSC1):c.508+1G>A
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+1G>C
|
rs118203390
|
|
NM_000368.5(TSC1):c.509-15G>A
|
rs118203391
|
|
NM_000368.5(TSC1):c.520G>T (p.Glu174Ter)
|
rs118203392
|
|
NM_000368.5(TSC1):c.527_528del (p.Tyr176fs)
|
rs118203394
|
|
NM_000368.5(TSC1):c.530del (p.Leu177fs)
|
rs397514794
|
|
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)
|
rs118203396
|
|
NM_000368.5(TSC1):c.542A>C (p.His181Pro)
|
rs397515294
|
|
NM_000368.5(TSC1):c.563_564del (p.Phe188fs)
|
rs118203399
|
|
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)
|
rs118203402
|
|
NM_000368.5(TSC1):c.572T>A (p.Leu191His)
|
rs118203403
|
|
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)
|
rs118203403
|
|
NM_000368.5(TSC1):c.575del (p.Tyr192fs)
|
rs118203405
|
|
NM_000368.5(TSC1):c.576T>G (p.Tyr192Ter)
|
rs118203406
|
|
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter)
|
rs118203407
|
|
NM_000368.5(TSC1):c.590dup (p.Cys197fs)
|
rs397514868
|
|
NM_000368.5(TSC1):c.591dup (p.Asn198fs)
|
rs397514836
|
|
NM_000368.5(TSC1):c.593_595del (p.Asn198_Phe199delinsIle)
|
rs118203408
|
|
NM_000368.5(TSC1):c.597_603del (p.Val200fs)
|
rs118203409
|
|
NM_000368.5(TSC1):c.599dup (p.Ser201fs)
|
rs118203411
|
|
NM_000368.5(TSC1):c.602_604del (p.Ser201del)
|
rs118203412
|
|
NM_000368.5(TSC1):c.607_608dup (p.Leu203fs)
|
rs118203413
|
|
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro)
|
rs397514834
|
|
NM_000368.5(TSC1):c.624del (p.Ser208fs)
|
rs397514837
|
|
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)
|
rs118203416
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.648del (p.Phe216fs)
|
rs118203417
|
|
NM_000368.5(TSC1):c.654dup (p.Val219fs)
|
rs118203418
|
|
NM_000368.5(TSC1):c.663+10A>C
|
rs397514833
|
|
NM_000368.5(TSC1):c.663+39dup
|
rs118203421
|
|
NM_000368.5(TSC1):c.663+7T>A
|
rs118203420
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-1G>C
|
rs118203423
|
|
NM_000368.5(TSC1):c.665del (p.Pro222fs)
|
rs118203425
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)
|
rs118203429
|
|
NM_000368.5(TSC1):c.694del (p.Glu232fs)
|
rs118203428
|
|
NM_000368.5(TSC1):c.709dup (p.Ser237fs)
|
rs118203430
|
|
NM_000368.5(TSC1):c.70del (p.Asp24fs)
|
rs118203330
|
|
NM_000368.5(TSC1):c.712A>T (p.Lys238Ter)
|
rs397514816
|
|
NM_000368.5(TSC1):c.720_721insA (p.Glu241fs)
|
rs118203431
|
|
NM_000368.5(TSC1):c.724C>T (p.Leu242=)
|
rs118203432
|
|
NM_000368.5(TSC1):c.732del (p.Arg245fs)
|
rs118203433
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1del
|
rs118203435
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.737G>C (p.Arg246Thr)
|
rs118203436
|
|
NM_000368.5(TSC1):c.738-2A>G
|
rs118203440
|
|
NM_000368.5(TSC1):c.738-36_747del
|
rs397514839
|
|
NM_000368.5(TSC1):c.742A>T (p.Lys248Ter)
|
rs118203442
|
|
NM_000368.5(TSC1):c.745A>T (p.Arg249Ter)
|
rs118203443
|
|
NM_000368.5(TSC1):c.745del (p.Arg249fs)
|
rs118203444
|
|
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
|
rs118203445
|
|
NM_000368.5(TSC1):c.749dup (p.Leu250fs)
|
rs118203445
|
|
NM_000368.5(TSC1):c.771del (p.Ile257fs)
|
rs118203449
|
|
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
|
rs118203450
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.813T>A (p.Tyr271Ter)
|
rs118203452
|
|
NM_000368.5(TSC1):c.814G>T (p.Glu272Ter)
|
rs397514872
|
|
NM_000368.5(TSC1):c.824_825dup (p.Ser276fs)
|
rs118203453
|
|
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)
|
rs118203454
|
|
NM_000368.5(TSC1):c.831_832del (p.His279fs)
|
rs118203455
|
|
NM_000368.5(TSC1):c.834_835del (p.His279fs)
|
rs118203457
|
|
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter)
|
rs118203458
|
|
NM_000368.5(TSC1):c.845C>A (p.Ser282Ter)
|
rs118203459
|
|
NM_000368.5(TSC1):c.846dup (p.Ala283fs)
|
rs118203460
|
|
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)
|
rs397514867
|
|
NM_000368.5(TSC1):c.891T>A (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)
|
rs118203463
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.901_913+1del
|
rs118203465
|
|
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
|
rs118203466
|
|
NM_000368.5(TSC1):c.912_913+5del
|
rs118203467
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000368.5(TSC1):c.913G>T (p.Gly305Trp)
|
rs118203468
|
|
NM_000368.5(TSC1):c.914-18T>C
|
rs118203471
|
|
NM_000368.5(TSC1):c.915G>A (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.921T>C (p.Ala307=)
|
rs397514826
|
|
NM_000368.5(TSC1):c.936C>A (p.Tyr312Ter)
|
rs118203472
|
|
NM_000368.5(TSC1):c.972G>A (p.Gly324=)
|
rs118203473
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.983dup (p.Thr329fs)
|
rs118203475
|
|
NM_000368.5(TSC1):c.988_989del (p.Leu330fs)
|
rs118203477
|
|
NM_000368.5(TSC1):c.988dup (p.Leu330fs)
|
rs118203476
|
|
NM_000368.5(TSC1):c.989_990del (p.Leu330fs)
|
rs118203479
|
|
NM_000368.5(TSC1):c.989del (p.Leu330fs)
|
rs397514870
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000368.5(TSC1):c.994_995insA (p.Ser332fs)
|
rs118203480
|
|
NM_000548.3(TSC2):c.(1445_1599)del (p.Glu(1445_1599)Glyfs)
|
|
|
NM_000548.3(TSC2):c.1258-?_1599+?del (p.?)
|
|
|
NM_000548.3(TSC2):c.2021_2022insA (p.Ala675Cysfs)
|
rs606231381
|
|
NM_000548.3(TSC2):c.3611_3627dup
|
rs137854088
|
|
NM_000548.3(TSC2):c.4034_4035insCTTA (p.Lys1345Asnfs)
|
rs137854341
|
|
NM_000548.3(TSC2):c.4991delG
|
rs137854064
|
|
NM_000548.3(TSC2):c.5068+27_5069-47dup34
|
|
|
NM_000548.3(TSC2):c.567_568dup (p.Tyr190Phefs)
|
rs137854332
|
|
NM_000548.3(TSC2):c.[3623_3647del;3745_3756dup]
|
|
|
NM_000548.3(TSC2):c.[4358_4359delCC; 4361_4372del12]
|
|
|
NM_000548.3(TSC2):c.[4621_4629del9;4621_4634ins14]
|
|
|
NM_000548.3(TSC2):c.[976-20T>A;976-17_976-1dup]
|
|
|
NM_000548.3:c.*61insG
|
|
|
NM_000548.3:c.3673_3674insNNNNN
|
|
|
NM_000548.3:c.3884-15G>A
|
|
|
NM_000548.3:c.971_1027del
|
|
|
NM_000548.4(TSC2):c.*67_*69delTGAins5
|
|
|
NM_000548.4(TSC2):c.2647_2648ins24
|
|
|
NM_000548.4(TSC2):c.2836_2837ins37
|
|
|
NM_000548.4(TSC2):c.2967-?_3610+?del
|
|
|
NM_000548.4(TSC2):c.3124_3125ins20
|
|
|
NM_000548.4(TSC2):c.3612del (p.Asn1205Thrfs)
|
rs397515150
|
|
NM_000548.4(TSC2):c.4403_4404ins27
|
|
|
NM_000548.4(TSC2):c.4598_4599ins29
|
|
|
NM_000548.4(TSC2):c.4663_4664del (p.Ser1555Glnfs)
|
rs137854118
|
|
NM_000548.4(TSC2):c.4920_4921ins17
|
|
|
NM_000548.5(TSC2):c.*127T>G
|
rs34379884
|
|
NM_000548.5(TSC2):c.*128G>A
|
rs730882074
|
|
NM_000548.5(TSC2):c.*145del
|
rs202247051
|
|
NM_000548.5(TSC2):c.*154dup
|
rs397514891
|
|
NM_000548.5(TSC2):c.*55TAAA[1]
|
rs137854184
|
|
NM_000548.5(TSC2):c.*61_*62del
|
rs36032671
|
|
NM_000548.5(TSC2):c.*62_*63del
|
rs397515122
|
|
NM_000548.5(TSC2):c.*6G>A
|
rs397515008
|
|
NM_000548.5(TSC2):c.*71C>A
|
rs45498900
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1001T>G (p.Val334Gly)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)
|
rs45517144
|
|
NM_000548.5(TSC2):c.1005C>G (p.Ser335=)
|
rs397514924
|
|
NM_000548.5(TSC2):c.1007_1008del (p.Ser335_Tyr336insTer)
|
rs397515002
|
|
NM_000548.5(TSC2):c.1009G>A (p.Glu337Lys)
|
rs45517145
|
|
NM_000548.5(TSC2):c.1009G>T (p.Glu337Ter)
|
rs45517145
|
|
NM_000548.5(TSC2):c.1011_1014delinsCATGGCAT (p.Glu337fs)
|
rs137854269
|
|
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)
|
rs397515192
|
|
NM_000548.5(TSC2):c.1029C>T (p.Thr343=)
|
rs45468201
|
|
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg)
|
rs45451295
|
|
NM_000548.5(TSC2):c.103C>T (p.Gln35Ter)
|
rs137854105
|
|
NM_000548.5(TSC2):c.1042A>T (p.Lys348Ter)
|
rs45517146
|
|
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)
|
rs45469896
|
|
NM_000548.5(TSC2):c.1080dup (p.Leu361fs)
|
rs397515198
|
|
NM_000548.5(TSC2):c.1082T>C (p.Leu361Pro)
|
rs45517147
|
|
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)
|
rs137854345
|
|
NM_000548.5(TSC2):c.1090ATC[1] (p.Ile365del)
|
rs137854367
|
|
NM_000548.5(TSC2):c.1094_1095del (p.Ile365fs)
|
rs137854423
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1099del (p.Arg367fs)
|
rs397515273
|
|
NM_000548.5(TSC2):c.109dup (p.Glu37fs)
|
rs137854178
|
|
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro)
|
rs1800725
|
|
NM_000548.5(TSC2):c.1101G>A (p.Arg367=)
|
rs45517149
|
|
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)
|
rs45469099
|
|
NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter)
|
rs45458694
|
|
NM_000548.5(TSC2):c.1118A>C (p.Gln373Pro)
|
rs397515131
|
|
NM_000548.5(TSC2):c.1119+1G>A
|
rs45475793
|
|
NM_000548.5(TSC2):c.1119+2T>G
|
rs137854173
|
|
NM_000548.5(TSC2):c.1135del (p.Glu379fs)
|
rs137854072
|
|
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys)
|
rs45465395
|
|
NM_000548.5(TSC2):c.1143_1174del (p.Thr382fs)
|
rs137854007
|
|
NM_000548.5(TSC2):c.1143del (p.Thr382fs)
|
rs397514970
|
|
NM_000548.5(TSC2):c.114del (p.Phe38fs)
|
rs137854355
|
|
NM_000548.5(TSC2):c.114dup (p.Ile39fs)
|
rs137854355
|
|
NM_000548.5(TSC2):c.1151T>A (p.Val384Asp)
|
rs397515214
|
|
NM_000548.5(TSC2):c.115del (p.Ile39fs)
|
rs397515078
|
|
NM_000548.5(TSC2):c.1160T>C (p.Leu387Pro)
|
rs397515123
|
|
NM_000548.5(TSC2):c.1160_1167del (p.Leu387fs)
|
rs137854398
|
|
NM_000548.5(TSC2):c.1167del (p.Thr390fs)
|
rs137854283
|
|
NM_000548.5(TSC2):c.120del (p.Thr41fs)
|
rs397515085
|
|
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)
|
rs45457701
|
|
NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp)
|
rs45517156
|
|
NM_000548.5(TSC2):c.1220_1221del (p.Tyr407fs)
|
rs137854080
|
|
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del)
|
rs137853998
|
|
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)
|
rs397514897
|
|
NM_000548.5(TSC2):c.1224dup (p.Glu409Ter)
|
rs137854089
|
|
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)
|
rs137854127
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1234del (p.Glu412fs)
|
rs397515027
|
|
NM_000548.5(TSC2):c.1235A>T (p.Glu412Val)
|
rs137854026
|
|
NM_000548.5(TSC2):c.1246G>T (p.Asp416Tyr)
|
rs45517157
|
|
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)
|
rs45517158
|
|
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)
|
rs45517159
|
|
NM_000548.5(TSC2):c.1257+107dup
|
rs397514987
|
|
NM_000548.5(TSC2):c.1257+1G>A
|
rs397515066
|
|
NM_000548.5(TSC2):c.1257+21G>A
|
rs397514998
|
|
NM_000548.5(TSC2):c.1257+221_1257+226del
|
rs137854370
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
NM_000548.5(TSC2):c.1257+2T>G
|
rs45509697
|
|
NM_000548.5(TSC2):c.1258-1G>A
|
rs397515182
|
|
NM_000548.5(TSC2):c.1258-2A>C
|
rs45517160
|
|
NM_000548.5(TSC2):c.1258-30G>T
|
rs397515172
|
|
NM_000548.5(TSC2):c.1258-32C>G
|
rs137854285
|
|
NM_000548.5(TSC2):c.1258-3C>G
|
rs45517161
|
|
NM_000548.5(TSC2):c.1266_1267del (p.Leu423fs)
|
rs137854238
|
|
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.1287T>G (p.Tyr429Ter)
|
rs45493394
|
|
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)
|
rs45515894
|
|
NM_000548.5(TSC2):c.1336C>T (p.Gln446Ter)
|
rs45517163
|
|
NM_000548.5(TSC2):c.1337_1340dup (p.Leu448fs)
|
rs137854318
|
|
NM_000548.5(TSC2):c.1337del (p.Gln446fs)
|
rs137854311
|
|
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)
|
rs137854360
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1347G>C (p.Met449Ile)
|
rs45443091
|
|
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)
|
rs45491095
|
|
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs)
|
rs397515082
|
|
NM_000548.5(TSC2):c.1361+1G>A
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+2T>C
|
rs397515301
|
|
NM_000548.5(TSC2):c.1361+2T>G
|
rs397515301
|
|
NM_000548.5(TSC2):c.1361+54_1361+57del
|
rs137854304
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-2A>G
|
rs45517165
|
|
NM_000548.5(TSC2):c.1362-30dup
|
rs137853980
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362-62G>C
|
rs45517167
|
|
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)
|
rs137854266
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.138+1G>A
|
rs45517091
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.138+2_138+3del
|
rs397515056
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys)
|
rs397515261
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.1385_1386delinsCT (p.Arg462Pro)
|
rs137854323
|
|
NM_000548.5(TSC2):c.1385_1386dup (p.Ile463fs)
|
rs397515037
|
|
NM_000548.5(TSC2):c.138_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)
|
rs45481199
|
|
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)
|
rs45481199
|
|
NM_000548.5(TSC2):c.139_140del (p.Glu47fs)
|
rs137853979
|
|
NM_000548.5(TSC2):c.1407del (p.Ser470fs)
|
rs137854390
|
|
NM_000548.5(TSC2):c.1410del (p.Phe471fs)
|
rs137854066
|
|
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp)
|
rs137854133
|
|
NM_000548.5(TSC2):c.1425del (p.Asn476fs)
|
rs397515234
|
|
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)
|
rs121964862
|
|
NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter)
|
rs45514794
|
|
NM_000548.5(TSC2):c.1443+1G>T
|
rs397515257
|
|
NM_000548.5(TSC2):c.1443+2T>G
|
rs397515064
|
|
NM_000548.5(TSC2):c.1443G>A (p.Glu481=)
|
rs137854876
|
|
NM_000548.5(TSC2):c.1444-14T>C
|
rs45517173
|
|
NM_000548.5(TSC2):c.1444-1G>A
|
rs45515902
|
|
NM_000548.5(TSC2):c.1444-1G>T
|
rs45515902
|
|
NM_000548.5(TSC2):c.1444-2A>G
|
rs45517174
|
|
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile)
|
rs45486599
|
|
NM_000548.5(TSC2):c.1468A>G (p.Ile490Val)
|
rs45517175
|
|
NM_000548.5(TSC2):c.1472C>A (p.Ser491Ter)
|
rs45517176
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro)
|
rs397515029
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1491del (p.Glu498fs)
|
rs137854346
|
|
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)
|
rs45517178
|
|
NM_000548.5(TSC2):c.1505del (p.His502fs)
|
rs397514948
|
|
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1508del (p.Gln503fs)
|
rs397514993
|
|
NM_000548.5(TSC2):c.1508dup (p.Val504fs)
|
rs397515210
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1546del (p.Ala516fs)
|
rs397515272
|
|
NM_000548.5(TSC2):c.1555del (p.Cys519fs)
|
rs137854275
|
|
NM_000548.5(TSC2):c.1563dup (p.His522fs)
|
rs137854023
|
|
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr)
|
rs397514991
|
|
NM_000548.5(TSC2):c.1564del (p.His522fs)
|
rs137854297
|
|
NM_000548.5(TSC2):c.1564dup (p.His522fs)
|
rs397515016
|
|
NM_000548.5(TSC2):c.1565A>C (p.His522Pro)
|
rs397515147
|
|
NM_000548.5(TSC2):c.1566_1567dup (p.His523fs)
|
rs397514961
|
|
NM_000548.5(TSC2):c.1579_1582del (p.Leu527fs)
|
rs137854246
|
|
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)
|
rs397514922
|
|
NM_000548.5(TSC2):c.1583_1584del (p.Leu528fs)
|
rs397514885
|
|
NM_000548.5(TSC2):c.1599+16C>T
|
rs45517181
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+1G>T
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+2T>C
|
rs45517183
|
|
NM_000548.5(TSC2):c.1599+5G>A
|
rs397515100
|
|
NM_000548.5(TSC2):c.1599+82_1599+84del
|
rs397515135
|
|
NM_000548.5(TSC2):c.1599G>A (p.Lys533=)
|
rs1555502589
|
|
NM_000548.5(TSC2):c.1599G>C (p.Lys533Asn)
|
rs1555502589
|
|
NM_000548.5(TSC2):c.1600-14C>T
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-30dup
|
rs397515089
|
|
NM_000548.5(TSC2):c.1600-3A>G
|
rs45517186
|
|
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val)
|
rs45517187
|
|
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs)
|
rs397515148
|
|
NM_000548.5(TSC2):c.1611C>T (p.Arg537=)
|
rs45469702
|
|
NM_000548.5(TSC2):c.1616_1628del (p.Leu539fs)
|
rs137854281
|
|
NM_000548.5(TSC2):c.1616del (p.Leu539fs)
|
rs137854100
|
|
NM_000548.5(TSC2):c.1628dup (p.Glu544fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1630del (p.Glu544fs)
|
rs397514931
|
|
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp)
|
rs137854075
|
|
NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs)
|
rs137854342
|
|
NM_000548.5(TSC2):c.1649_1650insACAT (p.Ala551fs)
|
rs137854245
|
|
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)
|
rs45471596
|
|
NM_000548.5(TSC2):c.1693del (p.Leu565fs)
|
rs137854087
|
|
NM_000548.5(TSC2):c.1698_1716+1del
|
rs397515151
|
|
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val)
|
rs397515230
|
|
NM_000548.5(TSC2):c.1708_1710dup (p.Ile570dup)
|
rs137854041
|
|
NM_000548.5(TSC2):c.1712T>C (p.Leu571Pro)
|
rs397515093
|
|
NM_000548.5(TSC2):c.1716+10C>A
|
rs45464995
|
|
NM_000548.5(TSC2):c.1716+1G>A
|
rs45517190
|
|
NM_000548.5(TSC2):c.1716+5del
|
rs137854417
|
|
NM_000548.5(TSC2):c.1716G>A (p.Gln572=)
|
rs397514917
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
NM_000548.5(TSC2):c.1717-1G>T
|
rs45517192
|
|
NM_000548.5(TSC2):c.1717-23T>G
|
rs45517193
|
|
NM_000548.5(TSC2):c.1717-60_1840-201del
|
rs2088100689
|
|
NM_000548.5(TSC2):c.171del (p.Ile58fs)
|
rs397515042
|
|
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1737_1814del (p.Ala580_Pro605del)
|
rs137854373
|
|
NM_000548.5(TSC2):c.1741dup (p.Ser581fs)
|
rs137854348
|
|
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn)
|
rs45517197
|
|
NM_000548.5(TSC2):c.1758_1759dup (p.Tyr587fs)
|
rs397515116
|
|
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)
|
rs137854371
|
|
NM_000548.5(TSC2):c.1769T>C (p.Leu590Pro)
|
rs137854229
|
|
NM_000548.5(TSC2):c.1771del (p.Val591fs)
|
rs137854418
|
|
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.1789C>T (p.His597Tyr)
|
rs397515246
|
|
NM_000548.5(TSC2):c.1789_1791dup (p.His597dup)
|
rs397514965
|
|
NM_000548.5(TSC2):c.1790A>G (p.His597Arg)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1791_1795del (p.His597fs)
|
rs137854165
|
|
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)
|
rs45517201
|
|
NM_000548.5(TSC2):c.1792_1794del (p.Tyr598del)
|
rs397515083
|
|
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)
|
rs45509094
|
|
NM_000548.5(TSC2):c.1796A>T (p.Lys599Met)
|
rs45517202
|
|
NM_000548.5(TSC2):c.1796del (p.Lys599fs)
|
rs137854125
|
|
NM_000548.5(TSC2):c.1804dup (p.Tyr602fs)
|
rs397515132
|
|
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser)
|
rs45517203
|
|
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu)
|
rs397515296
|
|
NM_000548.5(TSC2):c.1823GCA[3] (p.Ser609dup)
|
rs137854260
|
|
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly)
|
rs45469298
|
|
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.1837C>T (p.Gln613Ter)
|
rs45480292
|
|
NM_000548.5(TSC2):c.1839+1G>A
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+1G>C
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+1G>T
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+46G>A
|
rs397515180
|
|
NM_000548.5(TSC2):c.1840-1G>A
|
rs397514953
|
|
NM_000548.5(TSC2):c.1840-1G>C
|
rs397514953
|
|
NM_000548.5(TSC2):c.1840-2A>G
|
rs45517205
|
|
NM_000548.5(TSC2):c.1840-2A>T
|
rs45517205
|
|
NM_000548.5(TSC2):c.1840-3C>G
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840G>T (p.Ala614Ser)
|
rs397515199
|
|
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)
|
rs45454398
|
|
NM_000548.5(TSC2):c.1844T>C (p.Phe615Ser)
|
rs45481105
|
|
NM_000548.5(TSC2):c.1844_1845del (p.Ala614_Phe615insTer)
|
rs137854248
|
|
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)
|
rs397515195
|
|
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu)
|
rs397515045
|
|
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.1872delinsTT (p.Ser625fs)
|
rs397515017
|
|
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs)
|
rs397515073
|
|
NM_000548.5(TSC2):c.187C>T (p.Gln63Ter)
|
rs397515039
|
|
NM_000548.5(TSC2):c.187del (p.Gln63fs)
|
rs397514903
|
|
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)
|
rs45437797
|
|
NM_000548.5(TSC2):c.1889_1893delinsATGCA (p.Gly630_Leu631delinsAspAla)
|
rs397515215
|
|
NM_000548.5(TSC2):c.1893dup (p.Pro632fs)
|
rs397515032
|
|
NM_000548.5(TSC2):c.1909_1912del (p.Val637fs)
|
rs137854069
|
|
NM_000548.5(TSC2):c.1927dup (p.Tyr643fs)
|
rs137854339
|
|
NM_000548.5(TSC2):c.1934dup (p.Cys646fs)
|
rs397515019
|
|
NM_000548.5(TSC2):c.193del (p.Cys65fs)
|
rs397515080
|
|
NM_000548.5(TSC2):c.1942dup (p.Tyr648fs)
|
rs137854151
|
|
NM_000548.5(TSC2):c.1944del (p.Asp647_Tyr648insTer)
|
rs137854096
|
|
NM_000548.5(TSC2):c.1946+1G>C
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+2T>C
|
rs397515247
|
|
NM_000548.5(TSC2):c.1947-1G>A
|
rs397515310
|
|
NM_000548.5(TSC2):c.1947-2A>G
|
rs45517207
|
|
NM_000548.5(TSC2):c.1947-7T>C
|
rs45450193
|
|
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.1959_1960dup (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.1960G>T (p.Gly654Cys)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1960_1961del (p.Gly654fs)
|
rs137854349
|
|
NM_000548.5(TSC2):c.1965dup (p.Glu656Ter)
|
rs137854082
|
|
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del)
|
rs137854104
|
|
NM_000548.5(TSC2):c.1969A>T (p.Lys657Ter)
|
rs45488199
|
|
NM_000548.5(TSC2):c.196G>T (p.Glu66Ter)
|
rs45517094
|
|
NM_000548.5(TSC2):c.1975_1981del (p.Thr659fs)
|
rs137854124
|
|
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.1987del (p.Leu663fs)
|
rs137854310
|
|
NM_000548.5(TSC2):c.1987dup (p.Leu663fs)
|
rs137854310
|
|
NM_000548.5(TSC2):c.19A>T (p.Lys7Ter)
|
rs397514951
|
|
NM_000548.5(TSC2):c.2024_2042del (p.Ala675fs)
|
rs137854309
|
|
NM_000548.5(TSC2):c.2031dup (p.Ala678fs)
|
rs397515050
|
|
NM_000548.5(TSC2):c.2046del (p.Ser683fs)
|
rs397515287
|
|
NM_000548.5(TSC2):c.2050del (p.Val684fs)
|
rs397515141
|
|
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)
|
rs137854337
|
|
NM_000548.5(TSC2):c.205A>T (p.Lys69Ter)
|
rs45517095
|
|
NM_000548.5(TSC2):c.2061_2067del (p.Leu688fs)
|
rs137854211
|
|
NM_000548.5(TSC2):c.2071del (p.Arg691fs)
|
rs137854071
|
|
NM_000548.5(TSC2):c.2073_2074dup (p.Val692fs)
|
rs397515197
|
|
NM_000548.5(TSC2):c.2074del (p.Val692fs)
|
rs137854419
|
|
NM_000548.5(TSC2):c.2078T>C (p.Leu693Pro)
|
rs45488191
|
|
NM_000548.5(TSC2):c.2078TGC[1] (p.Leu694del)
|
rs137854234
|
|
NM_000548.5(TSC2):c.2082G>T (p.Leu694=)
|
rs45458592
|
|
NM_000548.5(TSC2):c.2082_2083delinsTT (p.Gln695Ter)
|
rs137854362
|
|
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)
|
rs45517209
|
|
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)
|
rs45483301
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2087_2088insAA (p.Cys696Ter)
|
rs137854319
|
|
NM_000548.5(TSC2):c.2088C>A (p.Cys696Ter)
|
rs137854217
|
|
NM_000548.5(TSC2):c.2089_2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)
|
rs45517210
|
|
NM_000548.5(TSC2):c.2097+12C>T
|
rs137854029
|
|
NM_000548.5(TSC2):c.2098-19A>G
|
rs397515091
|
|
NM_000548.5(TSC2):c.2098-1G>A
|
rs45517212
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys)
|
rs45496402
|
|
NM_000548.5(TSC2):c.2103_2105dup (p.Asp702dup)
|
rs137854265
|
|
NM_000548.5(TSC2):c.2103dup (p.Asp702Ter)
|
rs137854320
|
|
NM_000548.5(TSC2):c.2106dup (p.Trp703fs)
|
rs137854183
|
|
NM_000548.5(TSC2):c.2107dup (p.Trp703fs)
|
rs397515047
|
|
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)
|
rs45517213
|
|
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter)
|
rs45462192
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2114T>A (p.Val705Glu)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2127del (p.Leu710fs)
|
rs397515178
|
|
NM_000548.5(TSC2):c.2142_2157del (p.Glu715fs)
|
rs137854201
|
|
NM_000548.5(TSC2):c.2145_2158dup (p.Lys720fs)
|
rs137854358
|
|
NM_000548.5(TSC2):c.2148_2149insGAGTCCC (p.Leu717fs)
|
rs397514883
|
|
NM_000548.5(TSC2):c.2149del (p.Leu717fs)
|
rs397514967
|
|
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)
|
rs45517214
|
|
NM_000548.5(TSC2):c.2163del (p.Leu722fs)
|
rs137854109
|
|
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs)
|
rs137854216
|
|
NM_000548.5(TSC2):c.2182del (p.Cys728fs)
|
rs137854032
|
|
NM_000548.5(TSC2):c.2183dup (p.Cys728fs)
|
rs397515280
|
|
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)
|
rs397515163
|
|
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)
|
rs45517217
|
|
NM_000548.5(TSC2):c.2199_2203del (p.Ala736fs)
|
rs397515090
|
|
NM_000548.5(TSC2):c.21del (p.Asp8fs)
|
rs137854019
|
|
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs)
|
rs137854247
|
|
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)
|
rs45464093
|
|
NM_000548.5(TSC2):c.2220+1G>A
|
rs137854361
|
|
NM_000548.5(TSC2):c.2220+1G>T
|
rs137854361
|
|
NM_000548.5(TSC2):c.2220+2T>G
|
rs397515121
|
|
NM_000548.5(TSC2):c.2220+32del
|
rs137854354
|
|
NM_000548.5(TSC2):c.2220+3A>C
|
rs397515133
|
|
NM_000548.5(TSC2):c.2221-1G>C
|
rs45517218
|
|
NM_000548.5(TSC2):c.2221-2A>C
|
rs45502196
|
|
NM_000548.5(TSC2):c.2221-2A>G
|
rs45502196
|
|
NM_000548.5(TSC2):c.2221-7T>G
|
rs45517219
|
|
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter)
|
rs45517220
|
|
NM_000548.5(TSC2):c.2231del (p.Pro744fs)
|
rs397515218
|
|
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs)
|
rs137854006
|
|
NM_000548.5(TSC2):c.2235_2236del (p.Lys745fs)
|
rs137854110
|
|
NM_000548.5(TSC2):c.2240_2241del (p.Leu747fs)
|
rs137854126
|
|
NM_000548.5(TSC2):c.224A>G (p.Glu75Gly)
|
rs397515049
|
|
NM_000548.5(TSC2):c.225+25AG[3]
|
rs137854167
|
|
NM_000548.5(TSC2):c.225+2T>A
|
rs397515105
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2257dup (p.Ala753fs)
|
rs397514946
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
NM_000548.5(TSC2):c.226-2A>G
|
rs45517096
|
|
NM_000548.5(TSC2):c.226-32A>G
|
rs137854185
|
|
NM_000548.5(TSC2):c.226-36_226-35del
|
rs397515043
|
|
NM_000548.5(TSC2):c.2261del (p.Pro754fs)
|
rs137854021
|
|
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe)
|
rs45517223
|
|
NM_000548.5(TSC2):c.2277A>G (p.Arg759=)
|
rs45517224
|
|
NM_000548.5(TSC2):c.2294_2295dup (p.Val766fs)
|
rs137854284
|
|
NM_000548.5(TSC2):c.2306T>A (p.Val769Glu)
|
rs45499191
|
|
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu)
|
rs397514984
|
|
NM_000548.5(TSC2):c.2318T>G (p.Leu773Ter)
|
rs397515276
|
|
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2338del (p.Leu780fs)
|
rs137854086
|
|
NM_000548.5(TSC2):c.2347del (p.Thr783fs)
|
rs137854385
|
|
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)
|
rs45517226
|
|
NM_000548.5(TSC2):c.2355+1G>A
|
rs45517227
|
|
NM_000548.5(TSC2):c.2355+2T>C
|
rs45517228
|
|
NM_000548.5(TSC2):c.2355+2_2355+5del
|
rs137854250
|
|
NM_000548.5(TSC2):c.2355+2_2355+5delinsAGGTCAGAGC
|
rs2088709144
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-2A>C
|
rs45517229
|
|
NM_000548.5(TSC2):c.2356-52_2357del
|
rs1555507428
|
|
NM_000548.5(TSC2):c.2359G>T (p.Glu787Ter)
|
rs45517231
|
|
NM_000548.5(TSC2):c.2363T>G (p.Met788Arg)
|
rs45485599
|
|
NM_000548.5(TSC2):c.2363_2377delinsC (p.Met788fs)
|
rs137854061
|
|
NM_000548.5(TSC2):c.2369_2371del (p.Tyr790del)
|
rs397515224
|
|
NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro)
|
rs137854241
|
|
NM_000548.5(TSC2):c.2375T>G (p.Leu792Arg)
|
rs137854241
|
|
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)
|
rs45517233
|
|
NM_000548.5(TSC2):c.2380dup (p.Gln794fs)
|
rs397514995
|
|
NM_000548.5(TSC2):c.2381dup (p.Leu796fs)
|
rs397515282
|
|
NM_000548.5(TSC2):c.2392del (p.His798fs)
|
rs137854147
|
|
NM_000548.5(TSC2):c.2399del (p.Cys800fs)
|
rs137854377
|
|
NM_000548.5(TSC2):c.2399dup (p.Cys800fs)
|
rs137854170
|
|
NM_000548.5(TSC2):c.239_249dup (p.Ala84fs)
|
rs397515158
|
|
NM_000548.5(TSC2):c.2404dup (p.Ser802fs)
|
rs137854182
|
|
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)
|
rs45517234
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)
|
rs45489791
|
|
NM_000548.5(TSC2):c.2424_2426delinsT (p.Leu808fs)
|
rs397514911
|
|
NM_000548.5(TSC2):c.2430dup (p.Cys811fs)
|
rs137853997
|
|
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys)
|
rs45485395
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)
|
rs397514933
|
|
NM_000548.5(TSC2):c.2461A>T (p.Lys821Ter)
|
rs45517237
|
|
NM_000548.5(TSC2):c.2468dup (p.Pro824fs)
|
rs137853992
|
|
NM_000548.5(TSC2):c.2470_2473del (p.Pro824fs)
|
rs137854206
|
|
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)
|
rs45517239
|
|
NM_000548.5(TSC2):c.2489T>G (p.Leu830Arg)
|
rs137854047
|
|
NM_000548.5(TSC2):c.2491_2492insAT (p.Thr831fs)
|
rs137854379
|
|
NM_000548.5(TSC2):c.2498_2502del (p.Ile833fs)
|
rs137854286
|
|
NM_000548.5(TSC2):c.2498del (p.Ile833fs)
|
rs397514944
|
|
NM_000548.5(TSC2):c.2508A>G (p.Thr836=)
|
rs137854242
|
|
NM_000548.5(TSC2):c.2525del (p.Pro842fs)
|
rs137854375
|
|
NM_000548.5(TSC2):c.2530del (p.Leu844fs)
|
rs137854372
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2531T>G (p.Leu844Arg)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2537T>A (p.Phe846Tyr)
|
rs45509000
|
|
NM_000548.5(TSC2):c.2539del (p.Leu847fs)
|
rs137854140
|
|
NM_000548.5(TSC2):c.2539dup (p.Leu847fs)
|
rs137854140
|
|
NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro)
|
rs45517240
|
|
NM_000548.5(TSC2):c.2545+2T>C
|
rs397515262
|
|
NM_000548.5(TSC2):c.2545+45T>A
|
rs45517244
|
|
NM_000548.5(TSC2):c.2545+6T>G
|
rs45517245
|
|
NM_000548.5(TSC2):c.2545+95dup
|
rs397515216
|
|
NM_000548.5(TSC2):c.2546-11C>G
|
rs397515157
|
|
NM_000548.5(TSC2):c.2546-1G>A
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-1G>C
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-2A>G
|
rs45517246
|
|
NM_000548.5(TSC2):c.2546-2A>T
|
rs45517246
|
|
NM_000548.5(TSC2):c.2546-40_2546-27del
|
rs397515055
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
NM_000548.5(TSC2):c.2583del (p.Ala862fs)
|
rs137854264
|
|
NM_000548.5(TSC2):c.258_283del (p.Asp87fs)
|
rs137854271
|
|
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2608_2613dup (p.Ala870_Ile871dup)
|
rs137854092
|
|
NM_000548.5(TSC2):c.2619G>T (p.Leu873=)
|
rs137854054
|
|
NM_000548.5(TSC2):c.2628dup (p.Asn877fs)
|
rs137854097
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2635_2636insA (p.Ser879fs)
|
rs397514943
|
|
NM_000548.5(TSC2):c.2638_2639+2del
|
rs137854081
|
|
NM_000548.5(TSC2):c.2639+1G>C
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+1dup
|
rs137854394
|
|
NM_000548.5(TSC2):c.2639+44C>G
|
rs1800715
|
|
NM_000548.5(TSC2):c.2639+5G>A
|
rs397515171
|
|
NM_000548.5(TSC2):c.2640-1G>A
|
rs397515203
|
|
NM_000548.5(TSC2):c.2640-2A>T
|
rs137854380
|
|
NM_000548.5(TSC2):c.2641T>C (p.Phe881Leu)
|
rs45463498
|
|
NM_000548.5(TSC2):c.2643del (p.Phe881fs)
|
rs137854030
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=)
|
rs45489200
|
|
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.2661_2707del (p.Ala889fs)
|
rs397515098
|
|
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro)
|
rs397515054
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.2669_2677del (p.His890_Ile893delinsLeu)
|
rs137854068
|
|
NM_000548.5(TSC2):c.2670del (p.His891fs)
|
rs397514900
|
|
NM_000548.5(TSC2):c.2677del (p.Val892_Ile893insTer)
|
rs397515000
|
|
NM_000548.5(TSC2):c.2677dup (p.Ile893fs)
|
rs137854276
|
|
NM_000548.5(TSC2):c.2682C>G (p.Ala894=)
|
rs45517253
|
|
NM_000548.5(TSC2):c.2683A>G (p.Met895Val)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2687G>A (p.Trp896Ter)
|
rs45517254
|
|
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)
|
rs397514913
|
|
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.2697G>T (p.Arg899Ser)
|
rs45517256
|
|
NM_000548.5(TSC2):c.269_272del (p.Gln90fs)
|
rs397515094
|
|
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)
|
rs397515228
|
|
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter)
|
rs45517257
|
|
NM_000548.5(TSC2):c.2709dup (p.Phe904fs)
|
rs137854291
|
|
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.2713del (p.Arg905fs)
|
rs397515007
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2716A>T (p.Lys906Ter)
|
rs397515243
|
|
NM_000548.5(TSC2):c.2717dup (p.Asp907fs)
|
rs137854073
|
|
NM_000548.5(TSC2):c.2721delinsAG (p.Asp907fs)
|
rs397515213
|
|
NM_000548.5(TSC2):c.2729del (p.Pro910fs)
|
rs137854067
|
|
NM_000548.5(TSC2):c.2733del (p.Phe911fs)
|
rs137854328
|
|
NM_000548.5(TSC2):c.2737_2738del (p.Ile912_Thr913insTer)
|
rs397515113
|
|
NM_000548.5(TSC2):c.2742+1G>A
|
rs45517262
|
|
NM_000548.5(TSC2):c.2742+1G>T
|
rs45517262
|
|
NM_000548.5(TSC2):c.2742+5G>A
|
rs397515076
|
|
NM_000548.5(TSC2):c.2742G>A (p.Lys914=)
|
rs137854877
|
|
NM_000548.5(TSC2):c.2742G>C (p.Lys914Asn)
|
rs137854877
|
|
NM_000548.5(TSC2):c.2743-1G>A
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1G>C
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-2A>C
|
rs45445303
|
|
NM_000548.5(TSC2):c.2743-2A>G
|
rs45445303
|
|
NM_000548.5(TSC2):c.2743-4_2743dup
|
rs137854093
|
|
NM_000548.5(TSC2):c.2743-66A>G
|
rs45517266
|
|
NM_000548.5(TSC2):c.2743-9C>G
|
rs397515319
|
|
NM_000548.5(TSC2):c.2746C>T (p.Leu916=)
|
rs137854274
|
|
NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg)
|
rs137854405
|
|
NM_000548.5(TSC2):c.274del (p.Glu92fs)
|
rs137854422
|
|
NM_000548.5(TSC2):c.2753C>G (p.Ser918Cys)
|
rs397515165
|
|
NM_000548.5(TSC2):c.2765del (p.Leu922fs)
|
rs137854112
|
|
NM_000548.5(TSC2):c.2765dup (p.Leu922fs)
|
rs137854112
|
|
NM_000548.5(TSC2):c.2767_2769delinsCC (p.Ser923fs)
|
rs397515179
|
|
NM_000548.5(TSC2):c.2774_2777delinsTC (p.Asp925fs)
|
rs137854202
|
|
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)
|
rs45517267
|
|
NM_000548.5(TSC2):c.2784del (p.Glu929fs)
|
rs34245038
|
|
NM_000548.5(TSC2):c.2784dup (p.Glu929fs)
|
rs34245038
|
|
NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter)
|
rs45517268
|
|
NM_000548.5(TSC2):c.2785del (p.Glu929fs)
|
rs137854098
|
|
NM_000548.5(TSC2):c.2795G>A (p.Ser932Asn)
|
rs397515138
|
|
NM_000548.5(TSC2):c.279dup (p.Pro94fs)
|
rs137854409
|
|
NM_000548.5(TSC2):c.280C>A (p.Pro94Thr)
|
rs1051616
|
|
NM_000548.5(TSC2):c.2814_2815del (p.Leu940fs)
|
rs137853975
|
|
NM_000548.5(TSC2):c.281del (p.Pro94fs)
|
rs137854179
|
|
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)
|
rs45517270
|
|
NM_000548.5(TSC2):c.2837+1G>T
|
rs45517271
|
|
NM_000548.5(TSC2):c.2838-4A>C
|
rs45517272
|
|
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2862A>G (p.Lys954=)
|
rs45517274
|
|
NM_000548.5(TSC2):c.2966+92_2966+94dup
|
rs397515128
|
|
NM_000548.5(TSC2):c.2968_2971dup (p.Ile991fs)
|
rs397515185
|
|
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)
|
rs45438592
|
|
NM_000548.5(TSC2):c.2975_2978del (p.Gln992fs)
|
rs137854231
|
|
NM_000548.5(TSC2):c.2977_3025del (p.Thr993fs)
|
rs137854287
|
|
NM_000548.5(TSC2):c.297del (p.His99fs)
|
rs397515239
|
|
NM_000548.5(TSC2):c.2983_2990dup (p.Ala998fs)
|
rs137854324
|
|
NM_000548.5(TSC2):c.2988del (p.Ser997fs)
|
rs397515269
|
|
NM_000548.5(TSC2):c.299_300dup (p.Val101fs)
|
rs137854244
|
|
NM_000548.5(TSC2):c.3017_3062del (p.Asn1006fs)
|
rs397515107
|
|
NM_000548.5(TSC2):c.3025G>T (p.Ala1009Ser)
|
rs45517278
|
|
NM_000548.5(TSC2):c.3028C>T (p.Gln1010Ter)
|
rs45514100
|
|
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn)
|
rs45517279
|
|
NM_000548.5(TSC2):c.3037del (p.Asp1013fs)
|
rs137854301
|
|
NM_000548.5(TSC2):c.3058dup (p.Leu1020fs)
|
rs397515211
|
|
NM_000548.5(TSC2):c.3076dup (p.Cys1026fs)
|
rs137854334
|
|
NM_000548.5(TSC2):c.307_315dup (p.Ala103_Leu105dup)
|
rs137854004
|
|
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)
|
rs45438192
|
|
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn)
|
rs45517280
|
|
NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly)
|
rs397515255
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3094_3095insTTCCATG (p.Arg1032fs)
|
rs397515231
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His)
|
rs137854404
|
|
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.3099del (p.Arg1032_Tyr1033insTer)
|
rs137854157
|
|
NM_000548.5(TSC2):c.309T>G (p.Ala103=)
|
rs45517101
|
|
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro)
|
rs45517281
|
|
NM_000548.5(TSC2):c.3115_3116insTCCA (p.Thr1039fs)
|
rs137853989
|
|
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.3128del (p.Lys1043fs)
|
rs137854070
|
|
NM_000548.5(TSC2):c.3131+11_3131+28del
|
rs137854115
|
|
NM_000548.5(TSC2):c.3131+1G>A
|
rs45506401
|
|
NM_000548.5(TSC2):c.3131+2T>C
|
rs397515036
|
|
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3131G>T (p.Arg1044Met)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3132-10T>C
|
rs397514894
|
|
NM_000548.5(TSC2):c.3132-18A>T
|
rs137854120
|
|
NM_000548.5(TSC2):c.3132-1G>A
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-1G>C
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-2A>C
|
rs45517282
|
|
NM_000548.5(TSC2):c.3138T>C (p.Pro1046=)
|
rs137854158
|
|
NM_000548.5(TSC2):c.3178T>C (p.Trp1060Arg)
|
rs45517285
|
|
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)
|
rs397515207
|
|
NM_000548.5(TSC2):c.3198dup (p.Val1067fs)
|
rs137854177
|
|
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile)
|
rs397515284
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3214del (p.Ser1072fs)
|
rs137854106
|
|
NM_000548.5(TSC2):c.3220_3221delinsC (p.Gly1074fs)
|
rs137854384
|
|
NM_000548.5(TSC2):c.3221del (p.Gly1074fs)
|
rs397514962
|
|
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)
|
rs397515115
|
|
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile)
|
rs397515024
|
|
NM_000548.5(TSC2):c.3230C>T (p.Thr1077Ile)
|
rs137854279
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3239del (p.Leu1080fs)
|
rs397515061
|
|
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter)
|
rs45517287
|
|
NM_000548.5(TSC2):c.3259_3261delinsAA (p.Glu1087fs)
|
rs397515044
|
|
NM_000548.5(TSC2):c.3259del (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)
|
rs45517288
|
|
NM_000548.5(TSC2):c.3268_3271dup (p.Gly1091fs)
|
rs137854213
|
|
NM_000548.5(TSC2):c.3275del (p.Pro1092fs)
|
rs397515096
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284+1G>C
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284+1del
|
rs137853990
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3285-16G>A
|
rs397514886
|
|
NM_000548.5(TSC2):c.3285-63A>G
|
rs397515026
|
|
NM_000548.5(TSC2):c.3294del (p.Val1100fs)
|
rs397515048
|
|
NM_000548.5(TSC2):c.3298del (p.Val1100fs)
|
rs137854162
|
|
NM_000548.5(TSC2):c.3307_3308insC (p.Arg1103fs)
|
rs397515022
|
|
NM_000548.5(TSC2):c.330delinsAT (p.Gly111fs)
|
rs137854108
|
|
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)
|
rs397514978
|
|
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs)
|
rs137854018
|
|
NM_000548.5(TSC2):c.3312_3313del (p.Gln1104fs)
|
rs397515183
|
|
NM_000548.5(TSC2):c.3327_3337del (p.Ala1110fs)
|
rs397515013
|
|
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs)
|
rs397515144
|
|
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)
|
rs137854253
|
|
NM_000548.5(TSC2):c.3348_3349insAGCC (p.Gly1117fs)
|
rs137854042
|
|
NM_000548.5(TSC2):c.334C>T (p.Gln112Ter)
|
rs397515308
|
|
NM_000548.5(TSC2):c.3350_3360del (p.Gly1117fs)
|
rs137854003
|
|
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter)
|
rs45496291
|
|
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)
|
rs45517292
|
|
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu)
|
rs397514895
|
|
NM_000548.5(TSC2):c.336+1G>A
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+1_336+2dup
|
rs397515275
|
|
NM_000548.5(TSC2):c.336+2T>G
|
rs45505995
|
|
NM_000548.5(TSC2):c.336+33G>T
|
rs45517104
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-1G>T
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-2A>G
|
rs397515316
|
|
NM_000548.5(TSC2):c.337-2A>T
|
rs397515316
|
|
NM_000548.5(TSC2):c.3373del (p.Arg1125fs)
|
rs137854013
|
|
NM_000548.5(TSC2):c.3373dup (p.Arg1125fs)
|
rs137854013
|
|
NM_000548.5(TSC2):c.3376dup (p.Asp1126fs)
|
rs397515125
|
|
NM_000548.5(TSC2):c.3383del (p.Val1128fs)
|
rs137853996
|
|
NM_000548.5(TSC2):c.3384_3397+2del
|
rs137854190
|
|
NM_000548.5(TSC2):c.3390del (p.Met1131fs)
|
rs137854161
|
|
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter)
|
rs137854074
|
|
NM_000548.5(TSC2):c.3397+1G>A
|
rs137854208
|
|
NM_000548.5(TSC2):c.3397+2T>G
|
rs45499293
|
|
NM_000548.5(TSC2):c.3397+5G>A
|
rs45501492
|
|
NM_000548.5(TSC2):c.3397+5G>T
|
rs45501492
|
|
NM_000548.5(TSC2):c.3398-10T>C
|
rs137854369
|
|
NM_000548.5(TSC2):c.3398-1G>A
|
rs45517293
|
|
NM_000548.5(TSC2):c.339del (p.Glu114fs)
|
rs137854063
|
|
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)
|
rs137854314
|
|
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)
|
rs397515021
|
|
NM_000548.5(TSC2):c.340G>T (p.Glu114Ter)
|
rs397515021
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3413_3414insC (p.Val1139fs)
|
rs397515244
|
|
NM_000548.5(TSC2):c.3425dup (p.Asp1143fs)
|
rs137854313
|
|
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)
|
rs45517294
|
|
NM_000548.5(TSC2):c.343del (p.Arg115fs)
|
rs397514918
|
|
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)
|
rs45477491
|
|
NM_000548.5(TSC2):c.3451G>A (p.Gly1151Ser)
|
rs137854022
|
|
NM_000548.5(TSC2):c.3452_3455dup (p.Ser1152fs)
|
rs137854078
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3497del (p.Pro1166fs)
|
rs397515052
|
|
NM_000548.5(TSC2):c.3498dup (p.Glu1167Ter)
|
rs137854340
|
|
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)
|
rs45512692
|
|
NM_000548.5(TSC2):c.3509C>A (p.Ser1170Ter)
|
rs45517296
|
|
NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter)
|
rs45517296
|
|
NM_000548.5(TSC2):c.3520del (p.Arg1174fs)
|
rs137854326
|
|
NM_000548.5(TSC2):c.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)
|
rs45517297
|
|
NM_000548.5(TSC2):c.3535G>T (p.Glu1179Ter)
|
rs45483391
|
|
NM_000548.5(TSC2):c.3559del (p.Val1187fs)
|
rs137854163
|
|
NM_000548.5(TSC2):c.3565dup (p.Leu1189fs)
|
rs137854121
|
|
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)
|
rs45517298
|
|
NM_000548.5(TSC2):c.3574del (p.Gln1192fs)
|
rs137854014
|
|
NM_000548.5(TSC2):c.3578del (p.Gly1193fs)
|
rs137854262
|
|
NM_000548.5(TSC2):c.357del (p.Arg120fs)
|
rs137854258
|
|
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter)
|
rs397515168
|
|
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly)
|
rs397515088
|
|
NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro)
|
rs397515225
|
|
NM_000548.5(TSC2):c.3605C>A (p.Pro1202His)
|
rs397515060
|
|
NM_000548.5(TSC2):c.3605C>G (p.Pro1202Arg)
|
rs397515060
|
|
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro)
|
rs397515265
|
|
NM_000548.5(TSC2):c.3608C>A (p.Thr1203Lys)
|
rs397515030
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)
|
rs1555511663
|
|
NM_000548.5(TSC2):c.3611-28C>A
|
rs45517303
|
|
NM_000548.5(TSC2):c.3611-2A>T
|
rs397515169
|
|
NM_000548.5(TSC2):c.3611-9C>T
|
rs45517304
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3620G>T (p.Ser1207Ile)
|
rs397515313
|
|
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)
|
rs397514952
|
|
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)
|
rs397514979
|
|
NM_000548.5(TSC2):c.3637del (p.Glu1213fs)
|
rs397515010
|
|
NM_000548.5(TSC2):c.3643_3644insTG (p.Pro1215fs)
|
rs137854224
|
|
NM_000548.5(TSC2):c.3653_3660del (p.Pro1218fs)
|
rs137854389
|
|
NM_000548.5(TSC2):c.3653_3670del (p.Pro1218_Asn1224delinsHis)
|
rs397514904
|
|
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)
|
rs45517305
|
|
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs)
|
rs137854393
|
|
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)
|
rs137854223
|
|
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)
|
rs45517306
|
|
NM_000548.5(TSC2):c.3686_3701del (p.Gln1229fs)
|
rs137854129
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3695del (p.Ser1232fs)
|
rs137854316
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.3699dup (p.Ala1234fs)
|
rs397515193
|
|
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe)
|
rs137854303
|
|
NM_000548.5(TSC2):c.3705del (p.Met1236fs)
|
rs137854325
|
|
NM_000548.5(TSC2):c.3712del (p.Ala1238fs)
|
rs397515161
|
|
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3762_3783del (p.Val1255fs)
|
rs137854194
|
|
NM_000548.5(TSC2):c.3769del (p.Ala1257fs)
|
rs137854180
|
|
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp)
|
rs45517310
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
NM_000548.5(TSC2):c.3814+1G>A
|
rs397514902
|
|
NM_000548.5(TSC2):c.3814+1G>C
|
rs397514902
|
|
NM_000548.5(TSC2):c.3815-28C>G
|
rs45517313
|
|
NM_000548.5(TSC2):c.3844A>G (p.Ser1282Gly)
|
rs45446700
|
|
NM_000548.5(TSC2):c.385del (p.Asp129fs)
|
rs137854059
|
|
NM_000548.5(TSC2):c.3883+15_3883+16del
|
rs137854278
|
|
NM_000548.5(TSC2):c.3883+76C>A
|
rs137854188
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-1G>A
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-1G>C
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-2A>T
|
rs137854053
|
|
NM_000548.5(TSC2):c.3884-51C>A
|
rs45505099
|
|
NM_000548.5(TSC2):c.3884-51C>G
|
rs45505099
|
|
NM_000548.5(TSC2):c.3884-55A>T
|
rs45517318
|
|
NM_000548.5(TSC2):c.3884-8C>T
|
rs397515219
|
|
NM_000548.5(TSC2):c.388del (p.Tyr130fs)
|
rs397514975
|
|
NM_000548.5(TSC2):c.3913C>T (p.Pro1305Ser)
|
rs45452994
|
|
NM_000548.5(TSC2):c.3924dup (p.Pro1309fs)
|
rs137854142
|
|
NM_000548.5(TSC2):c.3935dup (p.Glu1313fs)
|
rs397515212
|
|
NM_000548.5(TSC2):c.3937G>T (p.Glu1313Ter)
|
rs45517321
|
|
NM_000548.5(TSC2):c.3943C>G (p.Pro1315Ala)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3943_3944del (p.Pro1315fs)
|
rs137854011
|
|
NM_000548.5(TSC2):c.3952_3961del (p.Glu1318fs)
|
rs397515260
|
|
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)
|
rs45517322
|
|
NM_000548.5(TSC2):c.395_396del (p.Pro131_Ser132insTer)
|
rs397515263
|
|
NM_000548.5(TSC2):c.3961G>T (p.Glu1321Ter)
|
rs397514910
|
|
NM_000548.5(TSC2):c.3984del (p.Arg1328fs)
|
rs137854255
|
|
NM_000548.5(TSC2):c.3991del (p.Asp1331fs)
|
rs397515058
|
|
NM_000548.5(TSC2):c.3997dup (p.Tyr1333fs)
|
rs137854403
|
|
NM_000548.5(TSC2):c.3999del (p.Ala1332_Tyr1333insTer)
|
rs397515232
|
|
NM_000548.5(TSC2):c.3G>A (p.Met1Ile)
|
rs397515208
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+2T>A
|
rs137854254
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
|
NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter)
|
rs397515003
|
|
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)
|
rs397515035
|
|
NM_000548.5(TSC2):c.4037C>A (p.Ser1346Ter)
|
rs45517326
|
|
NM_000548.5(TSC2):c.403dup (p.Asp135fs)
|
rs137854166
|
|
NM_000548.5(TSC2):c.404_407dup (p.His137fs)
|
rs137854381
|
|
NM_000548.5(TSC2):c.4061del (p.Gly1354fs)
|
rs397515129
|
|
NM_000548.5(TSC2):c.4067del (p.Gly1356fs)
|
rs137854330
|
|
NM_000548.5(TSC2):c.4073C>T (p.Pro1358Leu)
|
rs397515130
|
|
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter)
|
rs397514997
|
|
NM_000548.5(TSC2):c.4083_4087del (p.Val1362fs)
|
rs137853978
|
|
NM_000548.5(TSC2):c.4085T>A (p.Val1362Asp)
|
rs397514947
|
|
NM_000548.5(TSC2):c.4088_4095dup (p.Glu1366fs)
|
rs397515126
|
|
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)
|
rs45517327
|
|
NM_000548.5(TSC2):c.410A>G (p.His137Arg)
|
rs45517107
|
|
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)
|
rs137854368
|
|
NM_000548.5(TSC2):c.4123_4124del (p.Ser1375fs)
|
rs137854289
|
|
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)
|
rs45517329
|
|
NM_000548.5(TSC2):c.4136C>A (p.Ser1379Ter)
|
rs137854065
|
|
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)
|
rs137854045
|
|
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu)
|
rs397515264
|
|
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)
|
rs397514976
|
|
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)
|
rs397515009
|
|
NM_000548.5(TSC2):c.415del (p.Arg139fs)
|
rs137854010
|
|
NM_000548.5(TSC2):c.4164_4165del (p.Pro1389fs)
|
rs137854043
|
|
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.4174del (p.Gln1392fs)
|
rs137854051
|
|
NM_000548.5(TSC2):c.4176_4177del (p.Gln1392fs)
|
rs137854270
|
|
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)
|
rs137854363
|
|
NM_000548.5(TSC2):c.4183_4195del (p.Gln1395fs)
|
rs397514935
|
|
NM_000548.5(TSC2):c.4207del (p.Asp1403fs)
|
rs137854273
|
|
NM_000548.5(TSC2):c.4207dup (p.Asp1403fs)
|
rs137854273
|
|
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)
|
rs45517332
|
|
NM_000548.5(TSC2):c.4223del (p.Gly1408fs)
|
rs137854427
|
|
NM_000548.5(TSC2):c.4241_4275del (p.Val1414fs)
|
rs137854296
|
|
NM_000548.5(TSC2):c.4244dup (p.Ala1416fs)
|
rs137854243
|
|
NM_000548.5(TSC2):c.4249del (p.Arg1417fs)
|
rs137854055
|
|
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4255del (p.Gln1419fs)
|
rs137854137
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.4260_4261del (p.Gly1421fs)
|
rs397515271
|
|
NM_000548.5(TSC2):c.4266_4272del (p.Leu1423fs)
|
rs397515069
|
|
NM_000548.5(TSC2):c.4273_4337del (p.Gly1425fs)
|
rs1555514235
|
|
NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter)
|
rs45449094
|
|
NM_000548.5(TSC2):c.4279del (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr)
|
rs397515250
|
|
NM_000548.5(TSC2):c.4283del (p.Ala1428fs)
|
rs397515233
|
|
NM_000548.5(TSC2):c.4289G>A (p.Trp1430Ter)
|
rs45507198
|
|
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter)
|
rs45517334
|
|
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=)
|
rs45517336
|
|
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs)
|
rs137854415
|
|
NM_000548.5(TSC2):c.4316del (p.Gly1439fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)
|
rs45517337
|
|
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs)
|
rs137854327
|
|
NM_000548.5(TSC2):c.4324del (p.Glu1442fs)
|
rs397515188
|
|
NM_000548.5(TSC2):c.4351del (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4352dup (p.Ser1452fs)
|
rs397515175
|
|
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)
|
rs45517339
|
|
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)
|
rs137854366
|
|
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs)
|
rs137854046
|
|
NM_000548.5(TSC2):c.4374_4375insT (p.Arg1459fs)
|
rs137854038
|
|
NM_000548.5(TSC2):c.4375del (p.Arg1459fs)
|
rs397514959
|
|
NM_000548.5(TSC2):c.437T>G (p.Leu146Arg)
|
rs397514996
|
|
NM_000548.5(TSC2):c.4383C>G (p.Tyr1461Ter)
|
rs397514977
|
|
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)
|
rs45517341
|
|
NM_000548.5(TSC2):c.4399dup (p.Ala1467fs)
|
rs397515065
|
|
NM_000548.5(TSC2):c.4401_4402insT (p.Pro1468fs)
|
rs397515004
|
|
NM_000548.5(TSC2):c.4406C>A (p.Ser1469Ter)
|
rs45517342
|
|
NM_000548.5(TSC2):c.4409dup (p.Arg1471fs)
|
rs397515041
|
|
NM_000548.5(TSC2):c.440_441del (p.Thr147fs)
|
rs137854292
|
|
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln)
|
rs397515136
|
|
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs)
|
rs137854307
|
|
NM_000548.5(TSC2):c.4424_4427dup (p.Glu1476fs)
|
rs137854035
|
|
NM_000548.5(TSC2):c.4424_4428del (p.Val1475fs)
|
rs137854293
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs)
|
rs397514963
|
|
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)
|
rs45446594
|
|
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)
|
rs137854312
|
|
NM_000548.5(TSC2):c.4450_4451del (p.Ala1484fs)
|
rs137854387
|
|
NM_000548.5(TSC2):c.4472_4474delinsTT (p.Lys1491fs)
|
rs137854350
|
|
NM_000548.5(TSC2):c.4473dup (p.Val1492fs)
|
rs397515023
|
|
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.4490C>G (p.Pro1497Arg)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4493+1del
|
rs397514971
|
|
NM_000548.5(TSC2):c.4493+87del
|
rs397514932
|
|
NM_000548.5(TSC2):c.4493G>A (p.Ser1498Asn)
|
rs137854879
|
|
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr)
|
rs137854879
|
|
NM_000548.5(TSC2):c.4493_4494insC (p.Val1500fs)
|
rs397515278
|
|
NM_000548.5(TSC2):c.4494-1G>A
|
rs45517346
|
|
NM_000548.5(TSC2):c.4494-1G>C
|
rs45517346
|
|
NM_000548.5(TSC2):c.4494-2A>C
|
rs397514990
|
|
NM_000548.5(TSC2):c.4494-3_4494-2del
|
rs397514950
|
|
NM_000548.5(TSC2):c.4496dup (p.Val1500fs)
|
rs397515194
|
|
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly)
|
rs45517347
|
|
NM_000548.5(TSC2):c.4504del (p.Leu1502fs)
|
rs137854160
|
|
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.4509G>T (p.Gln1503His)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4511T>A (p.Leu1504His)
|
rs45501793
|
|
NM_000548.5(TSC2):c.4515C>A (p.Tyr1505Ter)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4516del (p.His1506fs)
|
rs137854017
|
|
NM_000548.5(TSC2):c.451A>T (p.Arg151Ter)
|
rs137854199
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4537del (p.Glu1513fs)
|
rs137854028
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4568del (p.Glu1523fs)
|
rs137854411
|
|
NM_000548.5(TSC2):c.4569+46C>T
|
rs45482793
|
|
NM_000548.5(TSC2):c.4569+47G>A
|
rs45517351
|
|
NM_000548.5(TSC2):c.4569+50T>A
|
rs45482792
|
|
NM_000548.5(TSC2):c.4569+80G>A
|
rs397515072
|
|
NM_000548.5(TSC2):c.4570-12T>A
|
rs137854256
|
|
NM_000548.5(TSC2):c.4570-21_4570-11dup
|
rs137854040
|
|
NM_000548.5(TSC2):c.4570-66G>A
|
rs45496499
|
|
NM_000548.5(TSC2):c.4570-80A>G
|
rs397515074
|
|
NM_000548.5(TSC2):c.4570_4598dup (p.Leu1534fs)
|
rs137854150
|
|
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs)
|
rs137854425
|
|
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4576_4582del (p.Phe1527fs)
|
rs137854407
|
|
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter)
|
rs137854329
|
|
NM_000548.5(TSC2):c.4591del (p.Val1531fs)
|
rs137854282
|
|
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)
|
rs397514958
|
|
NM_000548.5(TSC2):c.45del (p.Phe15fs)
|
rs397515020
|
|
NM_000548.5(TSC2):c.4601T>A (p.Leu1534His)
|
rs137854374
|
|
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del)
|
rs137854401
|
|
NM_000548.5(TSC2):c.4604A>C (p.Asp1535Ala)
|
rs397515160
|
|
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val)
|
rs397515160
|
|
NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter)
|
rs45495796
|
|
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)
|
rs45455897
|
|
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter)
|
rs45455897
|
|
NM_000548.5(TSC2):c.4621del (p.Asp1541fs)
|
rs397515005
|
|
NM_000548.5(TSC2):c.4630_4638delinsCGTCGTGG (p.Lys1544fs)
|
rs137854308
|
|
NM_000548.5(TSC2):c.4640T>G (p.Val1547Gly)
|
rs397514988
|
|
NM_000548.5(TSC2):c.4642del (p.Leu1548fs)
|
rs137854083
|
|
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro)
|
rs397515070
|
|
NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn)
|
rs45488595
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4646del (p.Tyr1549fs)
|
rs137854424
|
|
NM_000548.5(TSC2):c.4647T>A (p.Tyr1549Ter)
|
rs397515028
|
|
NM_000548.5(TSC2):c.4654G>T (p.Glu1552Ter)
|
rs397514942
|
|
NM_000548.5(TSC2):c.4654_4655dup (p.Gly1553fs)
|
rs137854111
|
|
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.465C>G (p.Tyr155Ter)
|
rs45444196
|
|
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)
|
rs45473296
|
|
NM_000548.5(TSC2):c.4662+1G>A
|
rs45514095
|
|
NM_000548.5(TSC2):c.4662+41G>C
|
rs45482694
|
|
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4662G>C (p.Gln1554His)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4663-17C>G
|
rs137854192
|
|
NM_000548.5(TSC2):c.4663-1G>A
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-1G>C
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-3C>G
|
rs397514930
|
|
NM_000548.5(TSC2):c.4665dup (p.Asn1556fs)
|
rs397515283
|
|
NM_000548.5(TSC2):c.4667del (p.Asn1556fs)
|
rs137854416
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4672_4684dup (p.Leu1562fs)
|
rs397515051
|
|
NM_000548.5(TSC2):c.4677C>G (p.Leu1559=)
|
rs45517361
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4695del (p.Glu1565fs)
|
rs137854171
|
|
NM_000548.5(TSC2):c.4697dup (p.His1566fs)
|
rs137853974
|
|
NM_000548.5(TSC2):c.469G>T (p.Glu157Ter)
|
rs45517108
|
|
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp)
|
rs45517364
|
|
NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val)
|
rs45517364
|
|
NM_000548.5(TSC2):c.4704del (p.Tyr1569fs)
|
rs137854240
|
|
NM_000548.5(TSC2):c.4705_4706dup (p.Arg1570fs)
|
rs397514992
|
|
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter)
|
rs397515277
|
|
NM_000548.5(TSC2):c.4708A>T (p.Arg1570Trp)
|
rs45517365
|
|
NM_000548.5(TSC2):c.4709G>C (p.Arg1570Thr)
|
rs397514980
|
|
NM_000548.5(TSC2):c.4711T>A (p.Tyr1571Asn)
|
rs397514905
|
|
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)
|
rs45478894
|
|
NM_000548.5(TSC2):c.4713C>G (p.Tyr1571Ter)
|
rs45517366
|
|
NM_000548.5(TSC2):c.4726_4782del (p.Thr1576_Leu1594del)
|
rs137854039
|
|
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4727_4753del (p.Thr1576_Leu1584del)
|
rs137854143
|
|
NM_000548.5(TSC2):c.4730del (p.Gly1577fs)
|
rs397515173
|
|
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)
|
rs45517367
|
|
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)
|
rs45503995
|
|
NM_000548.5(TSC2):c.4736G>T (p.Gly1579Val)
|
rs397515222
|
|
NM_000548.5(TSC2):c.4743del (p.Ile1582fs)
|
rs137854148
|
|
NM_000548.5(TSC2):c.4744dup (p.Ile1582fs)
|
rs137854356
|
|
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4752del (p.Lys1585fs)
|
rs397514937
|
|
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)
|
rs45479192
|
|
NM_000548.5(TSC2):c.4774del (p.Val1592fs)
|
rs137854009
|
|
NM_000548.5(TSC2):c.4777dup (p.Tyr1593fs)
|
rs397514889
|
|
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter)
|
rs45517368
|
|
NM_000548.5(TSC2):c.4780C>A (p.Leu1594Met)
|
rs45511204
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val)
|
rs397515014
|
|
NM_000548.5(TSC2):c.478C>G (p.Leu160Val)
|
rs45517109
|
|
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro)
|
rs45517370
|
|
NM_000548.5(TSC2):c.481+1G>T
|
rs45488500
|
|
NM_000548.5(TSC2):c.481+21G>C
|
rs397515040
|
|
NM_000548.5(TSC2):c.481+5G>A
|
rs137854135
|
|
NM_000548.5(TSC2):c.481+5G>T
|
rs137854135
|
|
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)
|
rs397514888
|
|
NM_000548.5(TSC2):c.482-1G>C
|
rs137854306
|
|
NM_000548.5(TSC2):c.482-2A>C
|
rs45517110
|
|
NM_000548.5(TSC2):c.482-2A>G
|
rs45517110
|
|
NM_000548.5(TSC2):c.482-5C>T
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-68C>G
|
rs2516734
|
|
NM_000548.5(TSC2):c.482-7_482-6delinsAA
|
rs137854412
|
|
NM_000548.5(TSC2):c.4821del (p.Tyr1608fs)
|
rs137854139
|
|
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)
|
rs137854399
|
|
NM_000548.5(TSC2):c.4825_4831del (p.Cys1609fs)
|
rs137854134
|
|
NM_000548.5(TSC2):c.4828T>G (p.Trp1610Gly)
|
rs397514966
|
|
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)
|
rs45517371
|
|
NM_000548.5(TSC2):c.482C>T (p.Ala161Val)
|
rs45481496
|
|
NM_000548.5(TSC2):c.482_483del (p.Ala161fs)
|
rs137854235
|
|
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter)
|
rs45517372
|
|
NM_000548.5(TSC2):c.4830del (p.Trp1610fs)
|
rs137854230
|
|
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)
|
rs137854331
|
|
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)
|
rs45455296
|
|
NM_000548.5(TSC2):c.4849+1G>A
|
rs45517375
|
|
NM_000548.5(TSC2):c.4849+2T>A
|
rs397515281
|
|
NM_000548.5(TSC2):c.4849+34C>T
|
rs45493793
|
|
NM_000548.5(TSC2):c.4850-109T>C
|
rs13335638
|
|
NM_000548.5(TSC2):c.4850-19C>G
|
rs45517376
|
|
NM_000548.5(TSC2):c.4850-1G>A
|
rs45517377
|
|
NM_000548.5(TSC2):c.4850-23C>T
|
rs397515086
|
|
NM_000548.5(TSC2):c.4850-2A>C
|
rs397515315
|
|
NM_000548.5(TSC2):c.4850-2A>G
|
rs397515315
|
|
NM_000548.5(TSC2):c.4850-3C>G
|
rs397514982
|
|
NM_000548.5(TSC2):c.4852_4860del (p.Val1618_His1620del)
|
rs137854227
|
|
NM_000548.5(TSC2):c.4854del (p.Phe1619fs)
|
rs137854357
|
|
NM_000548.5(TSC2):c.4855_4857del (p.Phe1619del)
|
rs397515084
|
|
NM_000548.5(TSC2):c.4856T>C (p.Phe1619Ser)
|
rs45514993
|
|
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr)
|
rs45446901
|
|
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)
|
rs397515177
|
|
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.4870_4871del (p.Leu1624fs)
|
rs137854095
|
|
NM_000548.5(TSC2):c.4870del (p.Thr1623_Leu1624insTer)
|
rs137854187
|
|
NM_000548.5(TSC2):c.4871T>C (p.Leu1624Pro)
|
rs137854221
|
|
NM_000548.5(TSC2):c.4873del (p.Met1625fs)
|
rs137854257
|
|
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)
|
rs137854050
|
|
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)
|
rs137854122
|
|
NM_000548.5(TSC2):c.4905C>A (p.Cys1635Ter)
|
rs397514999
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4909_4910del (p.Lys1637fs)
|
rs137854049
|
|
NM_000548.5(TSC2):c.4909_4920del (p.Lys1637_His1640del)
|
rs137854267
|
|
NM_000548.5(TSC2):c.4910_4919del (p.Lys1637fs)
|
rs397515117
|
|
NM_000548.5(TSC2):c.4910dup (p.Lys1638fs)
|
rs137854233
|
|
NM_000548.5(TSC2):c.4913dup (p.Arg1639fs)
|
rs397515196
|
|
NM_000548.5(TSC2):c.4914G>C (p.Lys1638Asn)
|
rs137854094
|
|
NM_000548.5(TSC2):c.4915_4918dup (p.His1640fs)
|
rs397515184
|
|
NM_000548.5(TSC2):c.4916G>T (p.Arg1639Leu)
|
rs137854153
|
|
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)
|
rs45485092
|
|
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4925del (p.Gly1642fs)
|
rs137854156
|
|
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)
|
rs45517379
|
|
NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser)
|
rs45517380
|
|
NM_000548.5(TSC2):c.4928A>T (p.Asn1643Ile)
|
rs45517380
|
|
NM_000548.5(TSC2):c.4929C>G (p.Asn1643Lys)
|
rs45517381
|
|
NM_000548.5(TSC2):c.4930G>C (p.Asp1644His)
|
rs137853999
|
|
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4935dup (p.Val1646fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4937T>G (p.Val1646Gly)
|
rs397514892
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.4948T>A (p.Tyr1650Asn)
|
rs137854212
|
|
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys)
|
rs45501091
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)
|
rs397515159
|
|
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe)
|
rs45517383
|
|
NM_000548.5(TSC2):c.4959C>A (p.Ser1653=)
|
rs45517384
|
|
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)
|
rs45517111
|
|
NM_000548.5(TSC2):c.4971del (p.Phe1657fs)
|
rs137854181
|
|
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4975C>T (p.Leu1659Phe)
|
rs45517385
|
|
NM_000548.5(TSC2):c.4989+1G>A
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+1G>C
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+1G>T
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+1_4989+2insA
|
rs1555438736
|
|
NM_000548.5(TSC2):c.4989+1del
|
rs137854005
|
|
NM_000548.5(TSC2):c.4989+1dup
|
rs137854005
|
|
NM_000548.5(TSC2):c.4989+2dup
|
rs397515111
|
|
NM_000548.5(TSC2):c.4990-6G>A
|
rs137853987
|
|
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)
|
rs45448101
|
|
NM_000548.5(TSC2):c.4del (p.Ala2fs)
|
rs137854295
|
|
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5018T>A (p.Val1673Asp)
|
rs397515067
|
|
NM_000548.5(TSC2):c.5020A>C (p.Thr1674Pro)
|
rs45500595
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024del (p.Pro1675fs)
|
rs397514915
|
|
NM_000548.5(TSC2):c.5025del (p.Leu1676fs)
|
rs137854382
|
|
NM_000548.5(TSC2):c.5032dup (p.Tyr1678fs)
|
rs137854016
|
|
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)
|
rs45467993
|
|
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter)
|
rs45467993
|
|
NM_000548.5(TSC2):c.5034del (p.Asp1677_Tyr1678insTer)
|
rs137854198
|
|
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro)
|
rs45517387
|
|
NM_000548.5(TSC2):c.5053del (p.Leu1685fs)
|
rs137854060
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5057A>C (p.Gln1686Pro)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5068+16dup
|
rs397514896
|
|
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>G
|
rs397515152
|
|
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5069-14_5069-12del
|
rs397514923
|
|
NM_000548.5(TSC2):c.5069-18A>G
|
rs45484794
|
|
NM_000548.5(TSC2):c.5069-1G>A
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-1G>C
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-1G>T
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-2A>G
|
rs45487291
|
|
NM_000548.5(TSC2):c.5069-47_5069-13dup
|
rs397515006
|
|
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs)
|
rs137854037
|
|
NM_000548.5(TSC2):c.5078_5081del (p.Gly1693fs)
|
rs137854280
|
|
NM_000548.5(TSC2):c.5084_5094del (p.Val1695fs)
|
rs137853985
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.509_510insAT (p.Gly171fs)
|
rs397515229
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5108T>G (p.Val1703Gly)
|
rs45498401
|
|
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs)
|
rs397515227
|
|
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter)
|
rs397515205
|
|
NM_000548.5(TSC2):c.5116dup (p.Arg1706fs)
|
rs137853981
|
|
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=)
|
rs397515079
|
|
NM_000548.5(TSC2):c.5122del (p.Leu1708fs)
|
rs137854336
|
|
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)
|
rs397515274
|
|
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5127dup (p.Phe1710fs)
|
rs397515164
|
|
NM_000548.5(TSC2):c.5135C>A (p.Ala1712Asp)
|
rs45517394
|
|
NM_000548.5(TSC2):c.5136_5137del (p.Arg1713fs)
|
rs137854136
|
|
NM_000548.5(TSC2):c.5137del (p.Arg1713fs)
|
rs137854136
|
|
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)
|
rs45517395
|
|
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)
|
rs45517396
|
|
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val)
|
rs397514974
|
|
NM_000548.5(TSC2):c.5144_5155del (p.Met1715_Ala1719delinsThr)
|
rs137854321
|
|
NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro)
|
rs45517397
|
|
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=)
|
rs45482604
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5152_5160+1del
|
rs137854164
|
|
NM_000548.5(TSC2):c.5154_5157dup (p.Asn1720fs)
|
rs397515202
|
|
NM_000548.5(TSC2):c.5159del (p.Asn1720fs)
|
rs137854294
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+1G>C
|
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+3G>C
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+43C>T
|
rs45517402
|
|
NM_000548.5(TSC2):c.5160+4A>G
|
rs45517403
|
|
NM_000548.5(TSC2):c.5160+5G>A
|
rs45515392
|
|
NM_000548.5(TSC2):c.5160+5G>T
|
rs45515392
|
|
NM_000548.5(TSC2):c.5160+6dup
|
rs1555440266
|
|
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5161-10_5161-7del
|
rs137854033
|
|
NM_000548.5(TSC2):c.5161-13C>G
|
rs45517405
|
|
NM_000548.5(TSC2):c.5161-15T>C
|
rs397515279
|
|
NM_000548.5(TSC2):c.5161-1G>A
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-1G>C
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-1G>T
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-26_5161-23del
|
rs137854062
|
|
NM_000548.5(TSC2):c.5161-27_5161-25del
|
rs137854351
|
|
NM_000548.5(TSC2):c.5161-28_5161-25del
|
rs1799758
|
|
NM_000548.5(TSC2):c.5161-9C>A
|
rs45515893
|
|
NM_000548.5(TSC2):c.5161A>C (p.Met1721Leu)
|
rs45517407
|
|
NM_000548.5(TSC2):c.5161del (p.Met1721fs)
|
rs137854251
|
|
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro)
|
rs397515270
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5170_5171del (p.Gln1724fs)
|
rs137854085
|
|
NM_000548.5(TSC2):c.5173del (p.Val1725fs)
|
rs137854077
|
|
NM_000548.5(TSC2):c.5176dup (p.His1726fs)
|
rs397515155
|
|
NM_000548.5(TSC2):c.5192del (p.Asn1731fs)
|
rs397514973
|
|
NM_000548.5(TSC2):c.5197_5212del (p.Thr1733fs)
|
rs137854091
|
|
NM_000548.5(TSC2):c.5197dup (p.Thr1733fs)
|
rs137854414
|
|
NM_000548.5(TSC2):c.5202T>A (p.Asp1734Glu)
|
rs1748
|
|
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)
|
rs397515053
|
|
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)
|
rs45517410
|
|
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)
|
rs137854408
|
|
NM_000548.5(TSC2):c.5214dup (p.Lys1739fs)
|
rs397515139
|
|
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5220_5225dup (p.Ile1741_Ala1742dup)
|
rs137854107
|
|
NM_000548.5(TSC2):c.5224_5241del (p.Ala1742_Ile1747del)
|
rs397515245
|
|
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)
|
rs45517412
|
|
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.5228G>C (p.Arg1743Pro)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5230_5236del (p.Leu1744fs)
|
rs397515001
|
|
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)
|
rs45517413
|
|
NM_000548.5(TSC2):c.5234_5237del (p.Arg1745fs)
|
rs137854396
|
|
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs)
|
rs137854002
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5247del (p.Leu1750fs)
|
rs397515109
|
|
NM_000548.5(TSC2):c.5247dup (p.Leu1750fs)
|
rs397515109
|
|
NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe)
|
rs45459299
|
|
NM_000548.5(TSC2):c.5249T>C (p.Leu1750Pro)
|
rs397515217
|
|
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+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5259+38C>G
|
rs45517415
|
|
NM_000548.5(TSC2):c.525del (p.Glu175fs)
|
rs137854277
|
|
NM_000548.5(TSC2):c.5260-25C>G
|
rs13332222
|
|
NM_000548.5(TSC2):c.5260-42C>T
|
rs45517417
|
|
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5269_5270dup (p.Ala1758fs)
|
rs397514925
|
|
NM_000548.5(TSC2):c.5276C>A (p.Ala1759Asp)
|
rs45477298
|
|
NM_000548.5(TSC2):c.5285del (p.Asn1762fs)
|
rs137854169
|
|
NM_000548.5(TSC2):c.529del (p.Leu177fs)
|
rs137853991
|
|
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5340_5371del (p.Pro1784fs)
|
rs137854420
|
|
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe)
|
rs397515221
|
|
NM_000548.5(TSC2):c.5365G>C (p.Glu1789Gln)
|
rs45517420
|
|
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser)
|
rs45517421
|
|
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His)
|
rs45517422
|
|
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)
|
rs137854335
|
|
NM_000548.5(TSC2):c.5384G>T (p.Arg1795Leu)
|
rs137854288
|
|
NM_000548.5(TSC2):c.5386C>A (p.Leu1796Ile)
|
rs45455398
|
|
NM_000548.5(TSC2):c.5388dup (p.Ile1797fs)
|
rs137854130
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs)
|
rs397514972
|
|
NM_000548.5(TSC2):c.5408dup (p.Thr1804fs)
|
rs137854228
|
|
NM_000548.5(TSC2):c.5414dup (p.Phe1806fs)
|
rs397515143
|
|
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu)
|
rs45486402
|
|
NM_000548.5(TSC2):c.5420_5423del (p.Val1807fs)
|
rs137854027
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.548T>A (p.Leu183Ter)
|
rs45470502
|
|
NM_000548.5(TSC2):c.560A>T (p.Asn187Ile)
|
rs45505405
|
|
NM_000548.5(TSC2):c.565_575del (p.Cys189fs)
|
rs397515120
|
|
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)
|
rs137854359
|
|
NM_000548.5(TSC2):c.570C>A (p.Tyr190Ter)
|
rs397515099
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_000548.5(TSC2):c.585C>A (p.Ile195=)
|
rs397515309
|
|
NM_000548.5(TSC2):c.589dup (p.Arg197fs)
|
rs137854172
|
|
NM_000548.5(TSC2):c.591del (p.Met198fs)
|
rs137854300
|
|
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)
|
rs45517114
|
|
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)
|
rs45517115
|
|
NM_000548.5(TSC2):c.599+1G>A
|
rs45460895
|
|
NM_000548.5(TSC2):c.599+2T>G
|
rs45484992
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
NM_000548.5(TSC2):c.599+4A>G
|
rs397515140
|
|
NM_000548.5(TSC2):c.599+5G>A
|
rs45463996
|
|
NM_000548.5(TSC2):c.599+5G>C
|
rs45463996
|
|
NM_000548.5(TSC2):c.600-1G>A
|
rs45517117
|
|
NM_000548.5(TSC2):c.600-2A>G
|
rs45468592
|
|
NM_000548.5(TSC2):c.600-36C>T
|
rs397515057
|
|
NM_000548.5(TSC2):c.618C>A (p.Cys206Ter)
|
rs45498496
|
|
NM_000548.5(TSC2):c.633del (p.Ser212fs)
|
rs137854205
|
|
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)
|
rs45517118
|
|
NM_000548.5(TSC2):c.648+1G>A
|
rs45488893
|
|
NM_000548.5(TSC2):c.655del (p.Leu219fs)
|
rs397515286
|
|
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)
|
rs397515249
|
|
NM_000548.5(TSC2):c.657del (p.Gln220fs)
|
rs397515181
|
|
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)
|
rs45517119
|
|
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)
|
rs45517120
|
|
NM_000548.5(TSC2):c.665_671del (p.Leu222fs)
|
rs397514921
|
|
NM_000548.5(TSC2):c.667G>T (p.Asp223Tyr)
|
rs45517121
|
|
NM_000548.5(TSC2):c.672del (p.Val225fs)
|
rs137854174
|
|
NM_000548.5(TSC2):c.680G>A (p.Cys227Tyr)
|
rs45517122
|
|
NM_000548.5(TSC2):c.684C>A (p.Tyr228Ter)
|
rs397515034
|
|
NM_000548.5(TSC2):c.684del (p.Cys227_Tyr228insTer)
|
rs397515124
|
|
NM_000548.5(TSC2):c.700G>T (p.Glu234Ter)
|
rs397515018
|
|
NM_000548.5(TSC2):c.707dup (p.Leu238fs)
|
rs137854056
|
|
NM_000548.5(TSC2):c.709_710dup (p.Leu238fs)
|
rs397515166
|
|
NM_000548.5(TSC2):c.710del (p.Pro237fs)
|
rs397515166
|
|
NM_000548.5(TSC2):c.720_722del (p.Val241del)
|
rs397514893
|
|
NM_000548.5(TSC2):c.724dup (p.Thr242fs)
|
rs397515256
|
|
NM_000548.5(TSC2):c.727del (p.Leu243fs)
|
rs397514956
|
|
NM_000548.5(TSC2):c.729_730del (p.Cys244fs)
|
rs137854236
|
|
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)
|
rs137854101
|
|
NM_000548.5(TSC2):c.731G>A (p.Cys244Tyr)
|
rs45517124
|
|
NM_000548.5(TSC2):c.731_732del (p.Cys244fs)
|
rs137854191
|
|
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)
|
rs45517125
|
|
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter)
|
rs45517126
|
|
NM_000548.5(TSC2):c.767dup (p.Cys256fs)
|
rs137854025
|
|
NM_000548.5(TSC2):c.768C>A (p.Cys256Ter)
|
rs45517127
|
|
NM_000548.5(TSC2):c.774+1G>A
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+1G>C
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+1G>T
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+24G>T
|
rs397515312
|
|
NM_000548.5(TSC2):c.774+28G>C
|
rs137854195
|
|
NM_000548.5(TSC2):c.774+2T>A
|
rs45517129
|
|
NM_000548.5(TSC2):c.774G>C (p.Lys258Asn)
|
rs137854875
|
|
NM_000548.5(TSC2):c.775-17C>A
|
rs137854299
|
|
NM_000548.5(TSC2):c.775-1G>A
|
rs45454192
|
|
NM_000548.5(TSC2):c.775-3C>G
|
rs397514909
|
|
NM_000548.5(TSC2):c.782G>C (p.Arg261Pro)
|
rs45502703
|
|
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)
|
rs45517131
|
|
NM_000548.5(TSC2):c.821ACA[1] (p.Asn275del)
|
rs397514926
|
|
NM_000548.5(TSC2):c.825C>A (p.Asn275Lys)
|
rs45468594
|
|
NM_000548.5(TSC2):c.825C>G (p.Asn275Lys)
|
rs45468594
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.832dup (p.His278fs)
|
rs137854020
|
|
NM_000548.5(TSC2):c.833A>C (p.His278Pro)
|
rs397515266
|
|
NM_000548.5(TSC2):c.848+1G>A
|
rs45466296
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.848+39G>T
|
rs45453000
|
|
NM_000548.5(TSC2):c.848+3del
|
rs137854057
|
|
NM_000548.5(TSC2):c.849-17C>T
|
rs45517133
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-2A>G
|
rs45517134
|
|
NM_000548.5(TSC2):c.849-3T>G
|
rs45489591
|
|
NM_000548.5(TSC2):c.849-53G>A
|
rs45517135
|
|
NM_000548.5(TSC2):c.859G>T (p.Glu287Ter)
|
rs397515300
|
|
NM_000548.5(TSC2):c.871dup (p.Leu291fs)
|
rs137854052
|
|
NM_000548.5(TSC2):c.875T>C (p.Leu292Pro)
|
rs45517138
|
|
NM_000548.5(TSC2):c.879_880del (p.Gly294fs)
|
rs137854364
|
|
NM_000548.5(TSC2):c.881G>A (p.Gly294Glu)
|
rs45487497
|
|
NM_000548.5(TSC2):c.889_890delinsA (p.Phe297fs)
|
rs137853976
|
|
NM_000548.5(TSC2):c.894dup (p.Val299fs)
|
rs137854024
|
|
NM_000548.5(TSC2):c.896T>G (p.Val299Gly)
|
rs397514986
|
|
NM_000548.5(TSC2):c.900_914dup (p.Met301_Gly305dup)
|
rs137854259
|
|
NM_000548.5(TSC2):c.909_910dup (p.Trp304fs)
|
rs397515253
|
|
NM_000548.5(TSC2):c.909_928del (p.Trp304fs)
|
rs137854012
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000548.5(TSC2):c.910_911del (p.Trp304fs)
|
rs397515106
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
NM_000548.5(TSC2):c.912G>A (p.Trp304Ter)
|
rs397514884
|
|
NM_000548.5(TSC2):c.925del (p.Leu309fs)
|
rs137854138
|
|
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)
|
rs137853986
|
|
NM_000548.5(TSC2):c.926del (p.Leu309fs)
|
rs397515190
|
|
NM_000548.5(TSC2):c.928dup (p.Tyr310fs)
|
rs397515031
|
|
NM_000548.5(TSC2):c.940_941insCT (p.Asn314fs)
|
rs137854386
|
|
NM_000548.5(TSC2):c.949_950insTA (p.Thr317fs)
|
rs397515153
|
|
NM_000548.5(TSC2):c.956dup (p.Leu320fs)
|
rs137854263
|
|
NM_000548.5(TSC2):c.957_958del (p.Leu320fs)
|
rs137854347
|
|
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe)
|
rs1131825
|
|
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)
|
rs45517143
|
|
NM_000548.5(TSC2):c.972C>G (p.Tyr324Ter)
|
rs45517143
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
NM_000548.5(TSC2):c.975+1G>A
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+1G>T
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+1del
|
rs137854388
|
|
NM_000548.5(TSC2):c.975+5G>C
|
rs45458600
|
|
NM_000548.5(TSC2):c.975+5G>T
|
rs45458600
|
|
NM_000548.5(TSC2):c.976-14G>A
|
rs397515186
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000548.5(TSC2):c.976-1G>A
|
rs45451199
|
|
NM_000548.5(TSC2):c.976-1G>T
|
rs45451199
|
|
NM_000548.5(TSC2):c.976-3C>G
|
rs45517151
|
|
NM_000548.5(TSC2):c.976-40G>A
|
rs137854031
|
|
NM_000548.5(TSC2):c.978dup (p.Met327fs)
|
rs397514960
|
|
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)
|
rs397515176
|
|
NM_000548.5(TSC2):c.982G>C (p.Ala328Pro)
|
rs45517152
|
|
NM_000548.5(TSC2):c.993C>A (p.Asn331Lys)
|
rs45517153
|
|
TSC1:c.1142-22_1142-21del
|
rs118203500
|
|
p.?
|
|
|