NM_000548.5(TSC2):c.1120-93T>C
|
rs17135764
|
0.56219
|
NM_000548.5(TSC2):c.976-100C>G
|
rs2074968
|
0.53103
|
NM_000548.5(TSC2):c.1717-55T>C
|
rs7187438
|
0.43502
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_000548.5(TSC2):c.2546-12C>T
|
rs13331451
|
0.21707
|
NM_000548.5(TSC2):c.5260-49C>T
|
rs13332221
|
0.19533
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_000548.5(TSC2):c.*26G>A
|
rs13332015
|
0.03592
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000548.5(TSC2):c.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.4990-7C>T
|
rs45457095
|
0.00888
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00823
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
NM_000548.5(TSC2):c.1361+16T>G
|
rs45502491
|
0.00476
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
NM_000548.5(TSC2):c.1362-32C>G
|
rs45517166
|
0.00391
|
NM_000548.5(TSC2):c.1443+18C>T
|
rs375947241
|
0.00379
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00379
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
NM_000548.5(TSC2):c.848+7G>A
|
rs45442896
|
0.00376
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_000548.5(TSC2):c.1361+18G>C
|
rs140223009
|
0.00350
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000548.5(TSC2):c.3815-15G>A
|
rs45480591
|
0.00149
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
NM_000548.5(TSC2):c.5161-9C>T
|
rs45515893
|
0.00094
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00084
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00067
|
NM_000548.5(TSC2):c.2742+13C>T
|
rs45517260
|
0.00065
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
NM_000548.5(TSC2):c.2640-13C>T
|
rs201184637
|
0.00052
|
NM_000548.5(TSC2):c.4989+15G>A
|
rs199610889
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.3815-20C>T
|
rs201878712
|
0.00051
|
NM_000548.5(TSC2):c.975+13C>T
|
rs200564575
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_000548.5(TSC2):c.1821G>A (p.Ala607=)
|
rs149543046
|
0.00050
|
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
|
rs137854214
|
0.00048
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000548.5(TSC2):c.2073C>T (p.Arg691=)
|
rs45512398
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_000548.5(TSC2):c.138+20C>G
|
rs45517092
|
0.00041
|
NM_000548.5(TSC2):c.2296G>A (p.Val766Met)
|
rs150672640
|
0.00041
|
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=)
|
rs150239180
|
0.00041
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)
|
rs786203769
|
0.00034
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=)
|
rs371541319
|
0.00032
|
NM_000548.5(TSC2):c.4850-19C>T
|
rs45517376
|
0.00032
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00030
|
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=)
|
rs139507276
|
0.00029
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00028
|
NM_000548.5(TSC2):c.3284+25C>T
|
rs370495938
|
0.00028
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_000548.5(TSC2):c.1120-17C>T
|
rs201704675
|
0.00026
|
NM_000548.5(TSC2):c.3747G>A (p.Leu1249=)
|
rs199593904
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000548.5(TSC2):c.1170G>A (p.Thr390=)
|
rs376144933
|
0.00025
|
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=)
|
rs139630605
|
0.00025
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_000548.5(TSC2):c.5244G>A (p.Lys1748=)
|
rs150038278
|
0.00024
|
NM_000548.5(TSC2):c.2742+14C>T
|
rs765251896
|
0.00023
|
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=)
|
rs45517381
|
0.00023
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
NM_000548.5(TSC2):c.2837+11dup
|
rs137854204
|
0.00022
|
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr)
|
rs146239734
|
0.00022
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)
|
rs373968155
|
0.00021
|
NM_000548.5(TSC2):c.1443+15G>A
|
rs182743311
|
0.00020
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00019
|
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)
|
rs147284943
|
0.00019
|
NM_000548.5(TSC2):c.4662+17G>A
|
rs45443002
|
0.00019
|
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)
|
rs144965811
|
0.00019
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_000548.5(TSC2):c.3942C>T (p.Pro1314=)
|
rs759988275
|
0.00018
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00018
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
NM_000548.5(TSC2):c.4493+18G>A
|
rs45454201
|
0.00017
|
NM_000548.5(TSC2):c.4905C>T (p.Cys1635=)
|
rs397514999
|
0.00017
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000548.5(TSC2):c.2356-15T>A
|
rs189674303
|
0.00016
|
NM_000548.5(TSC2):c.2622G>A (p.Pro874=)
|
rs141486629
|
0.00016
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=)
|
rs141252704
|
0.00016
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
0.00016
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00016
|
NM_000548.5(TSC2):c.552C>T (p.Val184=)
|
rs199991910
|
0.00016
|
NM_000548.5(TSC2):c.649-9C>G
|
rs781099543
|
0.00016
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)
|
rs137854215
|
0.00015
|
NM_000548.5(TSC2):c.2743-7C>G
|
rs566118686
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
NM_000548.5(TSC2):c.1362-10C>T
|
rs45446697
|
0.00014
|
NM_000548.5(TSC2):c.1947-3C>T
|
rs201106259
|
0.00014
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=)
|
rs200346578
|
0.00014
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=)
|
rs376086638
|
0.00013
|
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly)
|
rs199644840
|
0.00013
|
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)
|
rs751990617
|
0.00013
|
NM_000548.5(TSC2):c.1599+10G>A
|
rs376692777
|
0.00012
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00012
|
NM_000548.5(TSC2):c.2546-5C>T
|
rs45517247
|
0.00012
|
NM_000548.5(TSC2):c.3611-4G>A
|
rs368926908
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)
|
rs142848358
|
0.00012
|
NM_000548.5(TSC2):c.4493+16C>G
|
rs45491597
|
0.00012
|
NM_000548.5(TSC2):c.1946+20C>T
|
rs372149311
|
0.00011
|
NM_000548.5(TSC2):c.3099C>T (p.Tyr1033=)
|
rs45464800
|
0.00011
|
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=)
|
rs147242130
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)
|
rs45478595
|
0.00011
|
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=)
|
rs374146919
|
0.00011
|
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)
|
rs768684515
|
0.00011
|
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)
|
rs367703283
|
0.00011
|
NM_000548.5(TSC2):c.*5G>A
|
rs201342697
|
0.00010
|
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
|
rs139753238
|
0.00010
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe)
|
rs747613240
|
0.00010
|
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)
|
rs144062721
|
0.00010
|
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=)
|
rs45455897
|
0.00010
|
NM_000548.5(TSC2):c.1203C>T (p.His401=)
|
rs199665674
|
0.00009
|
NM_000548.5(TSC2):c.2743-9C>T
|
rs397515319
|
0.00009
|
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=)
|
rs369943684
|
0.00009
|
NM_000548.5(TSC2):c.4006-19T>G
|
rs200900825
|
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.481+12C>T
|
rs777645015
|
0.00009
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_000548.5(TSC2):c.599+17G>C
|
rs533989586
|
0.00009
|
NM_000548.5(TSC2):c.926T>A (p.Leu309His)
|
rs75348431
|
0.00009
|
NM_000548.5(TSC2):c.927C>G (p.Leu309=)
|
rs79786059
|
0.00009
|
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.3287C>T (p.Ser1096Phe)
|
rs140772300
|
0.00008
|
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys)
|
rs397514938
|
0.00008
|
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)
|
rs776738338
|
0.00008
|
NM_000548.5(TSC2):c.3815-16C>T
|
rs546810161
|
0.00008
|
NM_000548.5(TSC2):c.4569+12C>T
|
rs45517350
|
0.00008
|
NM_000548.5(TSC2):c.4662+18G>A
|
rs45517357
|
0.00008
|
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00008
|
NM_000548.5(TSC2):c.*7G>A
|
rs765016970
|
0.00007
|
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)
|
rs367963898
|
0.00007
|
NM_000548.5(TSC2):c.1120-16G>A
|
rs768241936
|
0.00007
|
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)
|
rs201525586
|
0.00007
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_000548.5(TSC2):c.2220+12G>A
|
rs780039835
|
0.00007
|
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=)
|
rs181279399
|
0.00007
|
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=)
|
rs760704956
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=)
|
rs140081676
|
0.00007
|
NM_000548.5(TSC2):c.4558C>T (p.Leu1520=)
|
rs374687688
|
0.00007
|
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=)
|
rs556045045
|
0.00007
|
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=)
|
rs370770569
|
0.00007
|
NM_000548.5(TSC2):c.5259+9T>C
|
rs1057522018
|
0.00007
|
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=)
|
rs371580877
|
0.00007
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
NM_000548.5(TSC2):c.630G>A (p.Ala210=)
|
rs567756494
|
0.00007
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
NM_000548.5(TSC2):c.1341G>A (p.Ala447=)
|
rs141609319
|
0.00006
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
0.00006
|
NM_000548.5(TSC2):c.1731C>T (p.Thr577=)
|
rs144122318
|
0.00006
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000548.5(TSC2):c.2546-6C>T
|
rs372088609
|
0.00006
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00006
|
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile)
|
rs146745242
|
0.00006
|
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=)
|
rs45478393
|
0.00006
|
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)
|
rs557648435
|
0.00006
|
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu)
|
rs1053311636
|
0.00006
|
NM_000548.5(TSC2):c.363C>T (p.Ala121=)
|
rs45517106
|
0.00006
|
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=)
|
rs749870079
|
0.00006
|
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=)
|
rs144891432
|
0.00006
|
NM_000548.5(TSC2):c.3883+6G>A
|
rs757751865
|
0.00006
|
NM_000548.5(TSC2):c.399C>T (p.Asn133=)
|
rs746704620
|
0.00006
|
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly)
|
rs369553241
|
0.00006
|
NM_000548.5(TSC2):c.4533C>T (p.Gly1511=)
|
rs201126835
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000548.5(TSC2):c.4794C>T (p.Asp1598=)
|
rs548102930
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.482-16G>A
|
rs200647260
|
0.00006
|
NM_000548.5(TSC2):c.5040C>T (p.Cys1680=)
|
rs139591455
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000548.5(TSC2):c.5129T>G (p.Phe1710Cys)
|
rs1315439478
|
0.00006
|
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=)
|
rs141449031
|
0.00006
|
NM_000548.5(TSC2):c.5319T>C (p.His1773=)
|
rs536518032
|
0.00006
|
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
|
rs200140994
|
0.00006
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00006
|
NM_000548.5(TSC2):c.618C>T (p.Cys206=)
|
rs45498496
|
0.00006
|
NM_000548.5(TSC2):c.648+6T>C
|
rs372007135
|
0.00006
|
NM_000548.5(TSC2):c.649-17G>A
|
rs757405342
|
0.00006
|
NM_000548.5(TSC2):c.708C>T (p.Leu236=)
|
rs756121647
|
0.00006
|
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)
|
rs45517130
|
0.00006
|
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)
|
rs373818076
|
0.00006
|
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)
|
rs45517162
|
0.00005
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00005
|
NM_000548.5(TSC2):c.1599+9C>T
|
rs776274603
|
0.00005
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000548.5(TSC2):c.1839+19C>T
|
rs746001352
|
0.00005
|
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu)
|
rs368285556
|
0.00005
|
NM_000548.5(TSC2):c.2207C>T (p.Ala736Val)
|
rs764259520
|
0.00005
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln)
|
rs397515046
|
0.00005
|
NM_000548.5(TSC2):c.282G>A (p.Pro94=)
|
rs145624233
|
0.00005
|
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)
|
rs777089012
|
0.00005
|
NM_000548.5(TSC2):c.3610+10G>A
|
rs764446159
|
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.4469A>G (p.Glu1490Gly)
|
rs759882146
|
0.00005
|
NM_000548.5(TSC2):c.4610T>C (p.Ile1537Thr)
|
rs760056622
|
0.00005
|
NM_000548.5(TSC2):c.4662+10C>T
|
rs371195832
|
0.00005
|
NM_000548.5(TSC2):c.4849+12C>T
|
rs45517373
|
0.00005
|
NM_000548.5(TSC2):c.4849+13G>A
|
rs780953278
|
0.00005
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
0.00005
|
NM_000548.5(TSC2):c.5068+11G>A
|
rs199999832
|
0.00005
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
NM_000548.5(TSC2):c.669C>T (p.Asp223=)
|
rs35501344
|
0.00005
|
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)
|
rs587778728
|
0.00004
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00004
|
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)
|
rs757325185
|
0.00004
|
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)
|
rs760896048
|
0.00004
|
NM_000548.5(TSC2):c.1365C>T (p.Ser455=)
|
rs34567401
|
0.00004
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
0.00004
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00004
|
NM_000548.5(TSC2):c.1716+16G>A
|
rs45517189
|
0.00004
|
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)
|
rs770895919
|
0.00004
|
NM_000548.5(TSC2):c.1752G>A (p.Thr584=)
|
rs141285742
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.1839+20G>A
|
rs569912958
|
0.00004
|
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)
|
rs758301934
|
0.00004
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
NM_000548.5(TSC2):c.2049C>T (p.Ser683=)
|
rs569518378
|
0.00004
|
NM_000548.5(TSC2):c.2163G>A (p.Val721=)
|
rs552644975
|
0.00004
|
NM_000548.5(TSC2):c.225+5G>T
|
rs778371172
|
0.00004
|
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr)
|
rs375809212
|
0.00004
|
NM_000548.5(TSC2):c.2510C>G (p.Ala837Gly)
|
rs139919040
|
0.00004
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
NM_000548.5(TSC2):c.2545+10C>T
|
rs45517241
|
0.00004
|
NM_000548.5(TSC2):c.2583C>T (p.Ala861=)
|
rs144924053
|
0.00004
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00004
|
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)
|
rs145258407
|
0.00004
|
NM_000548.5(TSC2):c.2742+15G>A
|
rs45517261
|
0.00004
|
NM_000548.5(TSC2):c.2742+6C>T
|
rs377568673
|
0.00004
|
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys)
|
rs45517268
|
0.00004
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp)
|
rs769527912
|
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.2966+14C>T
|
rs377238278
|
0.00004
|
NM_000548.5(TSC2):c.2967-6C>T
|
rs200746335
|
0.00004
|
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=)
|
rs373950550
|
0.00004
|
NM_000548.5(TSC2):c.3181C>T (p.Leu1061=)
|
rs946673791
|
0.00004
|
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys)
|
rs201670791
|
0.00004
|
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=)
|
rs374145104
|
0.00004
|
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)
|
rs587781774
|
0.00004
|
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)
|
rs369536711
|
0.00004
|
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)
|
rs397514945
|
0.00004
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00004
|
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val)
|
rs773951533
|
0.00004
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg)
|
rs944693159
|
0.00004
|
NM_000548.5(TSC2):c.3870C>T (p.Ser1290=)
|
rs754466663
|
0.00004
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
NM_000548.5(TSC2):c.3884-16G>A
|
rs544004178
|
0.00004
|
NM_000548.5(TSC2):c.3981C>T (p.Asp1327=)
|
rs876659087
|
0.00004
|
NM_000548.5(TSC2):c.4038G>A (p.Ser1346=)
|
rs756763596
|
0.00004
|
NM_000548.5(TSC2):c.4108C>T (p.Pro1370Ser)
|
rs747293303
|
0.00004
|
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=)
|
rs749358180
|
0.00004
|
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=)
|
rs373973956
|
0.00004
|
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=)
|
rs779122170
|
0.00004
|
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)
|
rs528080018
|
0.00004
|
NM_000548.5(TSC2):c.4410C>T (p.Arg1470=)
|
rs539032553
|
0.00004
|
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys)
|
rs376946970
|
0.00004
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00004
|
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)
|
rs45444196
|
0.00004
|
NM_000548.5(TSC2):c.4662+11G>A
|
rs761569930
|
0.00004
|
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=)
|
rs769246304
|
0.00004
|
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile)
|
rs377129517
|
0.00004
|
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser)
|
rs749501410
|
0.00004
|
NM_000548.5(TSC2):c.4990-3C>T
|
rs777928103
|
0.00004
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=)
|
rs45467993
|
0.00004
|
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met)
|
rs370864445
|
0.00004
|
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=)
|
rs1168265181
|
0.00004
|
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=)
|
rs760978505
|
0.00004
|
NM_000548.5(TSC2):c.5161-20C>T
|
rs200315428
|
0.00004
|
NM_000548.5(TSC2):c.5161-4C>G
|
rs45517406
|
0.00004
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
|
rs766093661
|
0.00004
|
NM_000548.5(TSC2):c.5307C>T (p.His1769=)
|
rs562220073
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=)
|
rs765607686
|
0.00004
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)
|
rs778395191
|
0.00004
|
NM_000548.5(TSC2):c.585C>T (p.Ile195=)
|
rs397515309
|
0.00004
|
NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr)
|
rs766547457
|
0.00004
|
NM_000548.5(TSC2):c.759C>T (p.Cys253=)
|
rs45517125
|
0.00004
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00004
|
NM_000548.5(TSC2):c.975+8G>A
|
rs137853984
|
0.00004
|
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)
|
rs140910086
|
0.00004
|
NM_000548.5(TSC2):c.1029C>A (p.Thr343=)
|
rs45468201
|
0.00003
|
NM_000548.5(TSC2):c.1059C>T (p.Leu353=)
|
rs796053472
|
0.00003
|
NM_000548.5(TSC2):c.108G>A (p.Thr36=)
|
rs781075483
|
0.00003
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00003
|
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)
|
rs397514881
|
0.00003
|
NM_000548.5(TSC2):c.1257+17G>T
|
rs369939081
|
0.00003
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00003
|
NM_000548.5(TSC2):c.1308G>A (p.Pro436=)
|
rs753764275
|
0.00003
|
NM_000548.5(TSC2):c.1317C>T (p.Asp439=)
|
rs777457815
|
0.00003
|
NM_000548.5(TSC2):c.1332C>T (p.Asn444=)
|
rs535984356
|
0.00003
|
NM_000548.5(TSC2):c.138+18G>A
|
rs966402370
|
0.00003
|
NM_000548.5(TSC2):c.139-15T>G
|
rs563094714
|
0.00003
|
NM_000548.5(TSC2):c.1443+12G>C
|
rs771129412
|
0.00003
|
NM_000548.5(TSC2):c.1443+14C>T
|
rs753454333
|
0.00003
|
NM_000548.5(TSC2):c.1599+18C>T
|
rs758214726
|
0.00003
|
NM_000548.5(TSC2):c.1600-10C>T
|
rs768188836
|
0.00003
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)
|
rs1060500944
|
0.00003
|
NM_000548.5(TSC2):c.1642A>C (p.Arg548=)
|
rs565375272
|
0.00003
|
NM_000548.5(TSC2):c.1751C>T (p.Thr584Met)
|
rs751147419
|
0.00003
|
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)
|
rs370324876
|
0.00003
|
NM_000548.5(TSC2):c.1798C>T (p.His600Tyr)
|
rs775390128
|
0.00003
|
NM_000548.5(TSC2):c.1815A>G (p.Pro605=)
|
rs961687056
|
0.00003
|
NM_000548.5(TSC2):c.1840-11C>G
|
rs754804519
|
0.00003
|
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)
|
rs45517206
|
0.00003
|
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.1946+7G>A
|
rs759576009
|
0.00003
|
NM_000548.5(TSC2):c.1947-4G>C
|
rs201633455
|
0.00003
|
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe)
|
rs747516623
|
0.00003
|
NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)
|
rs991714565
|
0.00003
|
NM_000548.5(TSC2):c.2013C>A (p.Gly671=)
|
rs566848799
|
0.00003
|
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu)
|
rs768864353
|
0.00003
|
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val)
|
rs745897413
|
0.00003
|
NM_000548.5(TSC2):c.2019G>A (p.Ala673=)
|
rs772993105
|
0.00003
|
NM_000548.5(TSC2):c.201C>T (p.Val67=)
|
rs45460096
|
0.00003
|
NM_000548.5(TSC2):c.2034C>T (p.Ala678=)
|
rs781740263
|
0.00003
|
NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln)
|
rs756536921
|
0.00003
|
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)
|
rs370553131
|
0.00003
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
NM_000548.5(TSC2):c.2098-13C>T
|
rs375903453
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.2220+11C>T
|
rs372555496
|
0.00003
|
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val)
|
rs397514984
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.2355+20C>T
|
rs1031112467
|
0.00003
|
NM_000548.5(TSC2):c.2511C>G (p.Ala837=)
|
rs145351030
|
0.00003
|
NM_000548.5(TSC2):c.2545+9C>G
|
rs369385105
|
0.00003
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
NM_000548.5(TSC2):c.258G>A (p.Ala86=)
|
rs397514912
|
0.00003
|
NM_000548.5(TSC2):c.2743-11C>T
|
rs137854426
|
0.00003
|
NM_000548.5(TSC2):c.2760C>A (p.Val920=)
|
rs149490538
|
0.00003
|
NM_000548.5(TSC2):c.2781C>T (p.Thr927=)
|
rs376275903
|
0.00003
|
NM_000548.5(TSC2):c.2837+12G>A
|
rs755041349
|
0.00003
|
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser)
|
rs397515104
|
0.00003
|
NM_000548.5(TSC2):c.2884C>G (p.Pro962Ala)
|
rs1477697117
|
0.00003
|
NM_000548.5(TSC2):c.2966+6G>A
|
rs878854088
|
0.00003
|
NM_000548.5(TSC2):c.297C>T (p.His99=)
|
rs752498350
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=)
|
rs45471697
|
0.00003
|
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=)
|
rs144997264
|
0.00003
|
NM_000548.5(TSC2):c.3132-16G>A
|
rs199572528
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val)
|
rs760214724
|
0.00003
|
NM_000548.5(TSC2):c.3159G>A (p.Ala1053=)
|
rs765689518
|
0.00003
|
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)
|
rs539927192
|
0.00003
|
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=)
|
rs371514669
|
0.00003
|
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)
|
rs45517286
|
0.00003
|
NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu)
|
rs45517287
|
0.00003
|
NM_000548.5(TSC2):c.325G>A (p.Val109Met)
|
rs369932305
|
0.00003
|
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)
|
rs397514887
|
0.00003
|
NM_000548.5(TSC2):c.3284+15C>T
|
rs939235755
|
0.00003
|
NM_000548.5(TSC2):c.3285-18G>A
|
rs752756174
|
0.00003
|
NM_000548.5(TSC2):c.3342C>T (p.Ser1114=)
|
rs755871381
|
0.00003
|
NM_000548.5(TSC2):c.336+14C>T
|
rs570065416
|
0.00003
|
NM_000548.5(TSC2):c.3398-19C>T
|
rs969734217
|
0.00003
|
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln)
|
rs143168379
|
0.00003
|
NM_000548.5(TSC2):c.3447C>T (p.Phe1149=)
|
rs1265832990
|
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.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)
|
rs373481458
|
0.00003
|
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=)
|
rs549427685
|
0.00003
|
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=)
|
rs761232933
|
0.00003
|
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=)
|
rs1410559096
|
0.00003
|
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=)
|
rs137854268
|
0.00003
|
NM_000548.5(TSC2):c.3875C>G (p.Ser1292Cys)
|
rs796053497
|
0.00003
|
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)
|
rs137854391
|
0.00003
|
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=)
|
rs749057825
|
0.00003
|
NM_000548.5(TSC2):c.4142C>A (p.Pro1381His)
|
rs397515264
|
0.00003
|
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)
|
rs45508504
|
0.00003
|
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)
|
rs1060504106
|
0.00003
|
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met)
|
rs45517332
|
0.00003
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)
|
rs769286175
|
0.00003
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
NM_000548.5(TSC2):c.4367T>A (p.Leu1456His)
|
rs777669350
|
0.00003
|
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4401C>T (p.Ala1467=)
|
rs370735624
|
0.00003
|
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)
|
rs45517343
|
0.00003
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
NM_000548.5(TSC2):c.450G>A (p.Gly150=)
|
rs372000734
|
0.00003
|
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr)
|
rs1057522800
|
0.00003
|
NM_000548.5(TSC2):c.454C>G (p.His152Asp)
|
rs397515285
|
0.00003
|
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=)
|
rs368534883
|
0.00003
|
NM_000548.5(TSC2):c.4663-14C>T
|
rs397515174
|
0.00003
|
NM_000548.5(TSC2):c.481+8C>T
|
rs758228838
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.4849+4C>T
|
rs370426490
|
0.00003
|
NM_000548.5(TSC2):c.4849+5G>A
|
rs1198379006
|
0.00003
|
NM_000548.5(TSC2):c.4854C>T (p.Val1618=)
|
rs45517378
|
0.00003
|
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
NM_000548.5(TSC2):c.4960G>A (p.Gly1654Ser)
|
rs771911660
|
0.00003
|
NM_000548.5(TSC2):c.4989+14C>T
|
rs187363476
|
0.00003
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)
|
rs1200837034
|
0.00003
|
NM_000548.5(TSC2):c.5068+8C>T
|
rs747827911
|
0.00003
|
NM_000548.5(TSC2):c.5069-8C>T
|
rs796053478
|
0.00003
|
NM_000548.5(TSC2):c.5079C>T (p.Gly1693=)
|
rs1173469448
|
0.00003
|
NM_000548.5(TSC2):c.5161-5C>A
|
rs775534948
|
0.00003
|
NM_000548.5(TSC2):c.5259+19C>T
|
rs753175884
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
NM_000548.5(TSC2):c.5328C>T (p.Ala1776=)
|
rs757292336
|
0.00003
|
NM_000548.5(TSC2):c.5346C>G (p.Ala1782=)
|
rs557200243
|
0.00003
|
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)
|
rs904411432
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)
|
rs45517113
|
0.00003
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
NM_000548.5(TSC2):c.649-20G>A
|
rs377558380
|
0.00003
|
NM_000548.5(TSC2):c.672C>T (p.Ala224=)
|
rs138897064
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.711G>A (p.Pro237=)
|
rs189380607
|
0.00003
|
NM_000548.5(TSC2):c.734G>A (p.Arg245His)
|
rs397515011
|
0.00003
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00003
|
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)
|
rs1318274503
|
0.00003
|
NM_000548.5(TSC2):c.848G>A (p.Arg283Lys)
|
rs1255519055
|
0.00003
|
NM_000548.5(TSC2):c.849-9dup
|
rs764626623
|
0.00003
|
NM_000548.5(TSC2):c.864C>T (p.Asp288=)
|
rs780887572
|
0.00003
|
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)
|
rs559727962
|
0.00002
|
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)
|
rs777988634
|
0.00002
|
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)
|
rs776395163
|
0.00002
|
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)
|
rs370403197
|
0.00002
|
NM_000548.5(TSC2):c.1113G>C (p.Gln371His)
|
rs571767462
|
0.00002
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
NM_000548.5(TSC2):c.1119+9G>A
|
rs748164142
|
0.00002
|
NM_000548.5(TSC2):c.1257+8C>A
|
rs767392684
|
0.00002
|
NM_000548.5(TSC2):c.1258-16G>T
|
rs979174870
|
0.00002
|
NM_000548.5(TSC2):c.1258-17G>A
|
rs752327718
|
0.00002
|
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
NM_000548.5(TSC2):c.139-6C>T
|
rs778516569
|
0.00002
|
NM_000548.5(TSC2):c.1444-13T>C
|
rs45447093
|
0.00002
|
NM_000548.5(TSC2):c.1458C>T (p.Asn486=)
|
rs200532154
|
0.00002
|
NM_000548.5(TSC2):c.1629G>A (p.Pro543=)
|
rs750309571
|
0.00002
|
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg)
|
rs775195398
|
0.00002
|
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)
|
rs374371998
|
0.00002
|
NM_000548.5(TSC2):c.1785G>A (p.Gln595=)
|
rs150352976
|
0.00002
|
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=)
|
rs367553206
|
0.00002
|
NM_000548.5(TSC2):c.1809C>G (p.Thr603=)
|
rs1016247433
|
0.00002
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
NM_000548.5(TSC2):c.1840-6T>G
|
rs747952317
|
0.00002
|
NM_000548.5(TSC2):c.1842C>G (p.Ala614=)
|
rs201575136
|
0.00002
|
NM_000548.5(TSC2):c.1883G>A (p.Arg628His)
|
rs774895427
|
0.00002
|
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)
|
rs753932484
|
0.00002
|
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)
|
rs1319342312
|
0.00002
|
NM_000548.5(TSC2):c.1977C>T (p.Thr659=)
|
rs369065703
|
0.00002
|
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp)
|
rs775881847
|
0.00002
|
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)
|
rs764840082
|
0.00002
|
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val)
|
rs754556513
|
0.00002
|
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)
|
rs201769220
|
0.00002
|
NM_000548.5(TSC2):c.2098-18C>T
|
rs1246072517
|
0.00002
|
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)
|
rs1489623582
|
0.00002
|
NM_000548.5(TSC2):c.2221-8G>C
|
rs768919244
|
0.00002
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00002
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.226-13C>T
|
rs886038353
|
0.00002
|
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)
|
rs886042145
|
0.00002
|
NM_000548.5(TSC2):c.2310G>C (p.Leu770=)
|
rs772380298
|
0.00002
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
NM_000548.5(TSC2):c.2412C>T (p.Cys804=)
|
rs763123951
|
0.00002
|
NM_000548.5(TSC2):c.2437G>A (p.Val813Met)
|
rs375030314
|
0.00002
|
NM_000548.5(TSC2):c.2457C>T (p.Ile819=)
|
rs753410949
|
0.00002
|
NM_000548.5(TSC2):c.2479G>A (p.Val827Met)
|
rs543738044
|
0.00002
|
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)
|
rs764608837
|
0.00002
|
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)
|
rs138527121
|
0.00002
|
NM_000548.5(TSC2):c.2628C>T (p.Thr876=)
|
rs778678783
|
0.00002
|
NM_000548.5(TSC2):c.2639+11G>A
|
rs1057520919
|
0.00002
|
NM_000548.5(TSC2):c.2673C>T (p.His891=)
|
rs373866604
|
0.00002
|
NM_000548.5(TSC2):c.2694C>T (p.Ile898=)
|
rs200360213
|
0.00002
|
NM_000548.5(TSC2):c.270G>A (p.Gln90=)
|
rs779310889
|
0.00002
|
NM_000548.5(TSC2):c.2742+4G>A
|
rs587781683
|
0.00002
|
NM_000548.5(TSC2):c.2916C>A (p.Ala972=)
|
rs751474097
|
0.00002
|
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)
|
rs759786102
|
0.00002
|
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys)
|
rs763047420
|
0.00002
|
NM_000548.5(TSC2):c.2966+19G>T
|
rs377514748
|
0.00002
|
NM_000548.5(TSC2):c.2967-15G>A
|
rs375423568
|
0.00002
|
NM_000548.5(TSC2):c.2967-16C>T
|
rs774389795
|
0.00002
|
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)
|
rs753730009
|
0.00002
|
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)
|
rs369314296
|
0.00002
|
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
|
rs149808366
|
0.00002
|
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met)
|
rs397514985
|
0.00002
|
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)
|
rs45514100
|
0.00002
|
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)
|
rs149098424
|
0.00002
|
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)
|
rs747104674
|
0.00002
|
NM_000548.5(TSC2):c.3131+9G>A
|
rs1352481690
|
0.00002
|
NM_000548.5(TSC2):c.3191A>G (p.Asn1064Ser)
|
rs758690821
|
0.00002
|
NM_000548.5(TSC2):c.3204T>C (p.Thr1068=)
|
rs1060504101
|
0.00002
|
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)
|
rs747910305
|
0.00002
|
NM_000548.5(TSC2):c.3232C>T (p.Arg1078Trp)
|
rs78956195
|
0.00002
|
NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)
|
rs368095502
|
0.00002
|
NM_000548.5(TSC2):c.3237G>A (p.Ser1079=)
|
rs572243694
|
0.00002
|
NM_000548.5(TSC2):c.3249G>A (p.Leu1083=)
|
rs762243606
|
0.00002
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
NM_000548.5(TSC2):c.3284+11C>A
|
rs769334480
|
0.00002
|
NM_000548.5(TSC2):c.3284+14C>G
|
rs762298669
|
0.00002
|
NM_000548.5(TSC2):c.3285-3C>A
|
rs781023043
|
0.00002
|
NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg)
|
rs776855601
|
0.00002
|
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln)
|
rs746197874
|
0.00002
|
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=)
|
rs373004429
|
0.00002
|
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)
|
rs749633483
|
0.00002
|
NM_000548.5(TSC2):c.344G>A (p.Arg115His)
|
rs764529584
|
0.00002
|
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)
|
rs778069675
|
0.00002
|
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp)
|
rs529298825
|
0.00002
|
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)
|
rs1326077397
|
0.00002
|
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=)
|
rs201305783
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)
|
rs1060500939
|
0.00002
|
NM_000548.5(TSC2):c.3610+4C>T
|
rs201978396
|
0.00002
|
NM_000548.5(TSC2):c.3702C>T (p.Ala1234=)
|
rs760755935
|
0.00002
|
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr)
|
rs993614997
|
0.00002
|
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)
|
rs767059758
|
0.00002
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)
|
rs1020561347
|
0.00002
|
NM_000548.5(TSC2):c.3814+14C>T
|
rs374139943
|
0.00002
|
NM_000548.5(TSC2):c.3815-3C>T
|
rs770054036
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.3883+17G>A
|
rs1207142968
|
0.00002
|
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)
|
rs766771526
|
0.00002
|
NM_000548.5(TSC2):c.3928G>A (p.Val1310Met)
|
rs1046522975
|
0.00002
|
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=)
|
rs757244510
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu)
|
rs776049462
|
0.00002
|
NM_000548.5(TSC2):c.4006-4C>G
|
rs772258522
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)
|
rs373982157
|
0.00002
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)
|
rs762798984
|
0.00002
|
NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala)
|
rs756957699
|
0.00002
|
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala)
|
rs755461310
|
0.00002
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
NM_000548.5(TSC2):c.411C>T (p.His137=)
|
rs776129896
|
0.00002
|
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=)
|
rs1057521540
|
0.00002
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)
|
rs886051794
|
0.00002
|
NM_000548.5(TSC2):c.4292C>T (p.Ser1431Leu)
|
rs375785710
|
0.00002
|
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu)
|
rs45517335
|
0.00002
|
NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys)
|
rs1441136255
|
0.00002
|
NM_000548.5(TSC2):c.4343G>A (p.Ser1448Asn)
|
rs776137955
|
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.4403C>T (p.Pro1468Leu)
|
rs762423563
|
0.00002
|
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)
|
rs1219556604
|
0.00002
|
NM_000548.5(TSC2):c.4440A>G (p.Leu1480=)
|
rs756991335
|
0.00002
|
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=)
|
rs777104003
|
0.00002
|
NM_000548.5(TSC2):c.4494-10C>T
|
rs753499012
|
0.00002
|
NM_000548.5(TSC2):c.4494-11dup
|
rs770333078
|
0.00002
|
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)
|
rs775919951
|
0.00002
|
NM_000548.5(TSC2):c.4539G>A (p.Glu1513=)
|
rs1322800885
|
0.00002
|
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val)
|
rs764903148
|
0.00002
|
NM_000548.5(TSC2):c.4570-15C>A
|
rs766813076
|
0.00002
|
NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp)
|
rs1051502900
|
0.00002
|
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)
|
rs377377367
|
0.00002
|
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)
|
rs768431568
|
0.00002
|
NM_000548.5(TSC2):c.4662+16C>T
|
rs45517356
|
0.00002
|
NM_000548.5(TSC2):c.4663-3C>T
|
rs397514930
|
0.00002
|
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)
|
rs151140709
|
0.00002
|
NM_000548.5(TSC2):c.4728G>A (p.Thr1576=)
|
rs752642825
|
0.00002
|
NM_000548.5(TSC2):c.482-14C>T
|
rs757054946
|
0.00002
|
NM_000548.5(TSC2):c.4823A>G (p.Tyr1608Cys)
|
rs759795928
|
0.00002
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
NM_000548.5(TSC2):c.4849+18C>T
|
rs45517374
|
0.00002
|
NM_000548.5(TSC2):c.4860C>T (p.His1620=)
|
rs1189943599
|
0.00002
|
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)
|
rs45482398
|
0.00002
|
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)
|
rs137853999
|
0.00002
|
NM_000548.5(TSC2):c.4942A>G (p.Ile1648Val)
|
rs749554579
|
0.00002
|
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)
|
rs1376515823
|
0.00002
|
NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg)
|
rs1050594534
|
0.00002
|
NM_000548.5(TSC2):c.4990-11T>C
|
rs1006709973
|
0.00002
|
NM_000548.5(TSC2):c.4990-15C>T
|
rs763702674
|
0.00002
|
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=)
|
rs745787082
|
0.00002
|
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)
|
rs374066182
|
0.00002
|
NM_000548.5(TSC2):c.5064G>A (p.Arg1688=)
|
rs374476631
|
0.00002
|
NM_000548.5(TSC2):c.5088C>T (p.Asp1696=)
|
rs766472320
|
0.00002
|
NM_000548.5(TSC2):c.5112T>A (p.Ser1704=)
|
rs769158004
|
0.00002
|
NM_000548.5(TSC2):c.5154C>T (p.His1718=)
|
rs370338085
|
0.00002
|
NM_000548.5(TSC2):c.5160+7G>C
|
rs45506600
|
0.00002
|
NM_000548.5(TSC2):c.5161-8G>A
|
rs374674097
|
0.00002
|
NM_000548.5(TSC2):c.5181T>C (p.His1727=)
|
rs767191593
|
0.00002
|
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=)
|
rs753336580
|
0.00002
|
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys)
|
rs781630603
|
0.00002
|
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)
|
rs373365980
|
0.00002
|
NM_000548.5(TSC2):c.5259+10A>C
|
rs200725584
|
0.00002
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
NM_000548.5(TSC2):c.5260-9T>C
|
rs775095745
|
0.00002
|
NM_000548.5(TSC2):c.5274C>T (p.Ala1758=)
|
rs752945858
|
0.00002
|
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr)
|
rs758450326
|
0.00002
|
NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys)
|
rs1261020269
|
0.00002
|
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)
|
rs777006583
|
0.00002
|
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys)
|
rs777166275
|
0.00002
|
NM_000548.5(TSC2):c.5395T>C (p.Ser1799Pro)
|
rs1231583517
|
0.00002
|
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)
|
rs778484981
|
0.00002
|
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=)
|
rs397515252
|
0.00002
|
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=)
|
rs982803529
|
0.00002
|
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)
|
rs45505405
|
0.00002
|
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln)
|
rs368386966
|
0.00002
|
NM_000548.5(TSC2):c.648+14C>T
|
rs941595244
|
0.00002
|
NM_000548.5(TSC2):c.649-8T>C
|
rs769803918
|
0.00002
|
NM_000548.5(TSC2):c.651C>G (p.Val217=)
|
rs780004703
|
0.00002
|
NM_000548.5(TSC2):c.657G>A (p.Leu219=)
|
rs768570301
|
0.00002
|
NM_000548.5(TSC2):c.663G>A (p.Val221=)
|
rs774115464
|
0.00002
|
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)
|
rs200943828
|
0.00002
|
NM_000548.5(TSC2):c.735C>T (p.Arg245=)
|
rs763419528
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000548.5(TSC2):c.945G>A (p.Ser315=)
|
rs763948768
|
0.00002
|
NM_000548.5(TSC2):c.975+7C>T
|
rs372463702
|
0.00002
|
NM_000548.5(TSC2):c.976-12C>T
|
rs760262673
|
0.00002
|
NM_000548.5(TSC2):c.976-16C>T
|
rs773016098
|
0.00002
|
NM_000548.5(TSC2):c.993C>T (p.Asn331=)
|
rs45517153
|
0.00002
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)
|
rs45517144
|
0.00001
|
NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)
|
rs780378198
|
0.00001
|
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val)
|
rs1060500913
|
0.00001
|
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)
|
rs397515146
|
0.00001
|
NM_000548.5(TSC2):c.1035C>A (p.Leu345=)
|
rs1476429068
|
0.00001
|
NM_000548.5(TSC2):c.1039A>G (p.Lys347Glu)
|
rs1337295642
|
0.00001
|
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys)
|
rs1060500916
|
0.00001
|
NM_000548.5(TSC2):c.1062G>C (p.Gln354His)
|
rs771943476
|
0.00001
|
NM_000548.5(TSC2):c.1068G>A (p.Val356=)
|
rs760584946
|
0.00001
|
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497
|
0.00001
|
NM_000548.5(TSC2):c.1075G>A (p.Asp359Asn)
|
rs2086534058
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)
|
rs757844109
|
0.00001
|
NM_000548.5(TSC2):c.1104C>T (p.Leu368=)
|
rs1352216421
|
0.00001
|
NM_000548.5(TSC2):c.1116C>T (p.Leu372=)
|
rs587780973
|
0.00001
|
NM_000548.5(TSC2):c.1119+8G>T
|
rs1377444061
|
0.00001
|
NM_000548.5(TSC2):c.1120-3C>T
|
rs1349958011
|
0.00001
|
NM_000548.5(TSC2):c.1120-5dup
|
rs1555500983
|
0.00001
|
NM_000548.5(TSC2):c.1120-6C>T
|
rs1327886668
|
0.00001
|
NM_000548.5(TSC2):c.1122C>G (p.Thr374=)
|
rs1555500988
|
0.00001
|
NM_000548.5(TSC2):c.1142G>T (p.Arg381Met)
|
rs45465395
|
0.00001
|
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
|
rs758511419
|
0.00001
|
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)
|
rs887128869
|
0.00001
|
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)
|
rs757353933
|
0.00001
|
NM_000548.5(TSC2):c.1164G>A (p.Leu388=)
|
rs1416852086
|
0.00001
|
NM_000548.5(TSC2):c.1167C>T (p.Thr389=)
|
rs745774782
|
0.00001
|
NM_000548.5(TSC2):c.116T>C (p.Ile39Thr)
|
rs184437554
|
0.00001
|
NM_000548.5(TSC2):c.1172T>C (p.Val391Ala)
|
rs1414372155
|
0.00001
|
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn)
|
rs1596303501
|
0.00001
|
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)
|
rs1365616275
|
0.00001
|
NM_000548.5(TSC2):c.1194C>T (p.Asn398=)
|
rs369172347
|
0.00001
|
NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)
|
rs147206318
|
0.00001
|
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)
|
rs765622787
|
0.00001
|
NM_000548.5(TSC2):c.1221C>T (p.Tyr407=)
|
rs397514897
|
0.00001
|
NM_000548.5(TSC2):c.123C>T (p.Thr41=)
|
rs1060504100
|
0.00001
|
NM_000548.5(TSC2):c.1257+14C>T
|
rs748972223
|
0.00001
|
NM_000548.5(TSC2):c.1257+20G>A
|
rs1436234038
|
0.00001
|
NM_000548.5(TSC2):c.1257+9C>T
|
rs1166139497
|
0.00001
|
NM_000548.5(TSC2):c.1258-18C>T
|
rs778741704
|
0.00001
|
NM_000548.5(TSC2):c.1258-19C>T
|
rs1235654050
|
0.00001
|
NM_000548.5(TSC2):c.1258-9T>G
|
rs377188047
|
0.00001
|
NM_000548.5(TSC2):c.1269C>T (p.Leu423=)
|
rs1323588796
|
0.00001
|
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr)
|
rs1186443300
|
0.00001
|
NM_000548.5(TSC2):c.1284C>T (p.Ser428=)
|
rs1325874616
|
0.00001
|
NM_000548.5(TSC2):c.1314G>A (p.Lys438=)
|
rs201584852
|
0.00001
|
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)
|
rs1190102918
|
0.00001
|
NM_000548.5(TSC2):c.1339G>A (p.Ala447Thr)
|
rs1408196847
|
0.00001
|
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)
|
rs1413875392
|
0.00001
|
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)
|
rs1383831944
|
0.00001
|
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)
|
rs749780677
|
0.00001
|
NM_000548.5(TSC2):c.1361+13C>T
|
rs900870796
|
0.00001
|
NM_000548.5(TSC2):c.1361+20C>G
|
rs538626543
|
0.00001
|
NM_000548.5(TSC2):c.1361+7G>T
|
rs1248857340
|
0.00001
|
NM_000548.5(TSC2):c.1362-15G>C
|
rs1360683344
|
0.00001
|
NM_000548.5(TSC2):c.1362-5C>T
|
rs372424945
|
0.00001
|
NM_000548.5(TSC2):c.1362-9G>A
|
rs763842281
|
0.00001
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)
|
rs876659386
|
0.00001
|
NM_000548.5(TSC2):c.1371C>G (p.Ser457=)
|
rs1060504093
|
0.00001
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
NM_000548.5(TSC2):c.138+15T>A
|
rs1168013718
|
0.00001
|
NM_000548.5(TSC2):c.138+4A>G
|
rs779611259
|
0.00001
|
NM_000548.5(TSC2):c.138+6T>C
|
rs1252109762
|
0.00001
|
NM_000548.5(TSC2):c.1380C>T (p.Ala460=)
|
rs1060504113
|
0.00001
|
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met)
|
rs1188230416
|
0.00001
|
NM_000548.5(TSC2):c.139-8C>T
|
rs1382083945
|
0.00001
|
NM_000548.5(TSC2):c.1393G>A (p.Val465Met)
|
rs758874054
|
0.00001
|
NM_000548.5(TSC2):c.1398G>A (p.Leu466=)
|
rs200702857
|
0.00001
|
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala)
|
rs45517093
|
0.00001
|
NM_000548.5(TSC2):c.1401C>T (p.Asp467=)
|
rs1433989426
|
0.00001
|
NM_000548.5(TSC2):c.1404G>A (p.Val468=)
|
rs778247396
|
0.00001
|
NM_000548.5(TSC2):c.1407G>A (p.Leu469=)
|
rs1458720483
|
0.00001
|
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val)
|
rs1196710568
|
0.00001
|
NM_000548.5(TSC2):c.1425C>G (p.Ile475Met)
|
rs1596307430
|
0.00001
|
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=)
|
rs45514794
|
0.00001
|
NM_000548.5(TSC2):c.1443+10C>G
|
rs1222870951
|
0.00001
|
NM_000548.5(TSC2):c.1443+13G>A
|
rs1215320121
|
0.00001
|
NM_000548.5(TSC2):c.1443+16G>T
|
rs371644025
|
0.00001
|
NM_000548.5(TSC2):c.1443+19G>A
|
rs1219381067
|
0.00001
|
NM_000548.5(TSC2):c.1443+7G>A
|
rs950216832
|
0.00001
|
NM_000548.5(TSC2):c.1444-9C>T
|
rs780055493
|
0.00001
|
NM_000548.5(TSC2):c.1450C>T (p.Leu484=)
|
rs2087007486
|
0.00001
|
NM_000548.5(TSC2):c.1455T>C (p.Ile485=)
|
rs1239743041
|
0.00001
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
NM_000548.5(TSC2):c.1472C>T (p.Ser491Leu)
|
rs45517176
|
0.00001
|
NM_000548.5(TSC2):c.1473G>A (p.Ser491=)
|
rs764767361
|
0.00001
|
NM_000548.5(TSC2):c.1490C>A (p.Pro497His)
|
rs1484576810
|
0.00001
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
NM_000548.5(TSC2):c.1494G>A (p.Glu498=)
|
rs780112077
|
0.00001
|
NM_000548.5(TSC2):c.1504C>T (p.His502Tyr)
|
rs1567437505
|
0.00001
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)
|
rs772617064
|
0.00001
|
NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)
|
rs772834557
|
0.00001
|
NM_000548.5(TSC2):c.1554C>A (p.Gly518=)
|
rs1274545629
|
0.00001
|
NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg)
|
rs1378972928
|
0.00001
|
NM_000548.5(TSC2):c.1566C>T (p.His522=)
|
rs876659982
|
0.00001
|
NM_000548.5(TSC2):c.1569C>G (p.His523Gln)
|
rs1420211177
|
0.00001
|
NM_000548.5(TSC2):c.1575C>T (p.Asn525=)
|
rs1060504098
|
0.00001
|
NM_000548.5(TSC2):c.1584G>A (p.Leu528=)
|
rs1478821497
|
0.00001
|
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val)
|
rs786203470
|
0.00001
|
NM_000548.5(TSC2):c.1591A>G (p.Ile531Val)
|
rs1309168496
|
0.00001
|
NM_000548.5(TSC2):c.1596G>A (p.Glu532=)
|
rs756466484
|
0.00001
|
NM_000548.5(TSC2):c.1599+19G>A
|
rs777632769
|
0.00001
|
NM_000548.5(TSC2):c.1599+8C>A
|
rs780311327
|
0.00001
|
NM_000548.5(TSC2):c.1600-4A>C
|
rs1164295969
|
0.00001
|
NM_000548.5(TSC2):c.1600-5C>G
|
rs1426258365
|
0.00001
|
NM_000548.5(TSC2):c.1603A>T (p.Met535Leu)
|
rs1309598467
|
0.00001
|
NM_000548.5(TSC2):c.1610G>A (p.Arg537His)
|
rs372681603
|
0.00001
|
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe)
|
rs201334685
|
0.00001
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser)
|
rs891347695
|
0.00001
|
NM_000548.5(TSC2):c.1635G>C (p.Leu545=)
|
rs755923499
|
0.00001
|
NM_000548.5(TSC2):c.1653C>T (p.Ala551=)
|
rs202171361
|
0.00001
|
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)
|
rs777121421
|
0.00001
|
NM_000548.5(TSC2):c.1658A>G (p.Tyr553Cys)
|
rs1319281731
|
0.00001
|
NM_000548.5(TSC2):c.1659C>T (p.Tyr553=)
|
rs1358358656
|
0.00001
|
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)
|
rs45471596
|
0.00001
|
NM_000548.5(TSC2):c.1662G>A (p.Ser554=)
|
rs775617895
|
0.00001
|
NM_000548.5(TSC2):c.1676A>T (p.Asp559Val)
|
rs767619776
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile)
|
rs1463643429
|
0.00001
|
NM_000548.5(TSC2):c.1686A>T (p.Thr562=)
|
rs755900760
|
0.00001
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)
|
rs1430159201
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.1716+10C>G
|
rs45464995
|
0.00001
|
NM_000548.5(TSC2):c.1716+20C>T
|
rs781703479
|
0.00001
|
NM_000548.5(TSC2):c.1716+7G>A
|
rs1204839285
|
0.00001
|
NM_000548.5(TSC2):c.1717-10C>T
|
rs377168627
|
0.00001
|
NM_000548.5(TSC2):c.1717-14T>C
|
rs780658386
|
0.00001
|
NM_000548.5(TSC2):c.1717-16C>T
|
rs45517191
|
0.00001
|
NM_000548.5(TSC2):c.1717-4del
|
rs1362347834
|
0.00001
|
NM_000548.5(TSC2):c.1717-6C>T
|
rs1596335934
|
0.00001
|
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)
|
rs773304374
|
0.00001
|
NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly)
|
rs765043471
|
0.00001
|
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)
|
rs763863196
|
0.00001
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)
|
rs1015282988
|
0.00001
|
NM_000548.5(TSC2):c.1765A>T (p.Met589Leu)
|
rs1567457356
|
0.00001
|
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)
|
rs910068556
|
0.00001
|
NM_000548.5(TSC2):c.178A>G (p.Met60Val)
|
rs1053960780
|
0.00001
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.1800C>T (p.His600=)
|
rs762782913
|
0.00001
|
NM_000548.5(TSC2):c.1803C>T (p.Ser601=)
|
rs1044401463
|
0.00001
|
NM_000548.5(TSC2):c.1807A>G (p.Thr603Ala)
|
rs876660140
|
0.00001
|
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala)
|
rs1295352648
|
0.00001
|
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)
|
rs753235037
|
0.00001
|
NM_000548.5(TSC2):c.1833G>A (p.Arg611=)
|
rs1270155533
|
0.00001
|
NM_000548.5(TSC2):c.1836G>A (p.Leu612=)
|
rs758839898
|
0.00001
|
NM_000548.5(TSC2):c.1839+10C>T
|
rs868388786
|
0.00001
|
NM_000548.5(TSC2):c.1839+14G>A
|
rs1258455812
|
0.00001
|
NM_000548.5(TSC2):c.1839+9G>A
|
rs751834233
|
0.00001
|
NM_000548.5(TSC2):c.1840-13C>T
|
rs1186556063
|
0.00001
|
NM_000548.5(TSC2):c.1840-14C>T
|
rs539450042
|
0.00001
|
NM_000548.5(TSC2):c.1840-16A>G
|
rs200933920
|
0.00001
|
NM_000548.5(TSC2):c.1840-17C>T
|
rs1246308547
|
0.00001
|
NM_000548.5(TSC2):c.1840-20C>T
|
rs370980659
|
0.00001
|
NM_000548.5(TSC2):c.1840-8C>T
|
rs778905320
|
0.00001
|
NM_000548.5(TSC2):c.1848C>G (p.Asp616Glu)
|
rs1383525805
|
0.00001
|
NM_000548.5(TSC2):c.1851C>T (p.Phe617=)
|
rs1446662814
|
0.00001
|
NM_000548.5(TSC2):c.1854G>C (p.Leu618=)
|
rs1060504088
|
0.00001
|
NM_000548.5(TSC2):c.1858C>G (p.Leu620Val)
|
rs1212638240
|
0.00001
|
NM_000548.5(TSC2):c.1863G>A (p.Leu621=)
|
rs1485599658
|
0.00001
|
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn)
|
rs1334081822
|
0.00001
|
NM_000548.5(TSC2):c.1897A>C (p.Asn633His)
|
rs1462660984
|
0.00001
|
NM_000548.5(TSC2):c.1898A>G (p.Asn633Ser)
|
rs1184287685
|
0.00001
|
NM_000548.5(TSC2):c.1911C>T (p.Val637=)
|
rs543584836
|
0.00001
|
NM_000548.5(TSC2):c.1925C>G (p.Pro642Arg)
|
rs1408228669
|
0.00001
|
NM_000548.5(TSC2):c.1932C>T (p.Cys644=)
|
rs777665839
|
0.00001
|
NM_000548.5(TSC2):c.193T>C (p.Cys65Arg)
|
rs1060500965
|
0.00001
|
NM_000548.5(TSC2):c.1944C>T (p.Tyr648=)
|
rs878925198
|
0.00001
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
NM_000548.5(TSC2):c.1946+18C>T
|
rs1351856624
|
0.00001
|
NM_000548.5(TSC2):c.1946+19A>G
|
rs1442266522
|
0.00001
|
NM_000548.5(TSC2):c.1946+4C>T
|
rs752017577
|
0.00001
|
NM_000548.5(TSC2):c.1946+5G>A
|
rs766646261
|
0.00001
|
NM_000548.5(TSC2):c.1946+6C>T
|
rs754069880
|
0.00001
|
NM_000548.5(TSC2):c.1946+9G>T
|
rs1470276886
|
0.00001
|
NM_000548.5(TSC2):c.1947-10G>A
|
rs778293037
|
0.00001
|
NM_000548.5(TSC2):c.1947-19G>C
|
rs748855035
|
0.00001
|
NM_000548.5(TSC2):c.1947-6C>T
|
rs2088443606
|
0.00001
|
NM_000548.5(TSC2):c.1947-9C>T
|
rs747475590
|
0.00001
|
NM_000548.5(TSC2):c.1951C>T (p.Pro651Ser)
|
rs763160835
|
0.00001
|
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu)
|
rs1300730043
|
0.00001
|
NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln)
|
rs45488199
|
0.00001
|
NM_000548.5(TSC2):c.1976C>G (p.Thr659Ser)
|
rs755847664
|
0.00001
|
NM_000548.5(TSC2):c.1983C>T (p.Gly661=)
|
rs1270679683
|
0.00001
|
NM_000548.5(TSC2):c.1984C>T (p.Pro662Ser)
|
rs1309151152
|
0.00001
|
NM_000548.5(TSC2):c.1991C>G (p.Ser664Cys)
|
rs991714565
|
0.00001
|
NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)
|
rs1184908674
|
0.00001
|
NM_000548.5(TSC2):c.199G>A (p.Val67Ile)
|
rs774506901
|
0.00001
|
NM_000548.5(TSC2):c.2004G>T (p.Gly668=)
|
rs746307631
|
0.00001
|
NM_000548.5(TSC2):c.2011G>A (p.Gly671Ser)
|
rs1268191908
|
0.00001
|
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)
|
rs1262368552
|
0.00001
|
NM_000548.5(TSC2):c.2028C>T (p.Gly676=)
|
rs1057520807
|
0.00001
|
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr)
|
rs767626323
|
0.00001
|
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu)
|
rs376974525
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp)
|
rs876658578
|
0.00001
|
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro)
|
rs878854079
|
0.00001
|
NM_000548.5(TSC2):c.2043G>A (p.Leu681=)
|
rs1296448095
|
0.00001
|
NM_000548.5(TSC2):c.2045G>C (p.Gly682Ala)
|
rs1567465004
|
0.00001
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)
|
rs878854080
|
0.00001
|
NM_000548.5(TSC2):c.2050G>A (p.Val684Met)
|
rs779275341
|
0.00001
|
NM_000548.5(TSC2):c.2053C>T (p.Pro685Ser)
|
rs748300709
|
0.00001
|
NM_000548.5(TSC2):c.2054C>T (p.Pro685Leu)
|
rs959165669
|
0.00001
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
0.00001
|
NM_000548.5(TSC2):c.2077C>T (p.Leu693=)
|
rs1167258871
|
0.00001
|
NM_000548.5(TSC2):c.2079G>C (p.Leu693=)
|
rs764932531
|
0.00001
|
NM_000548.5(TSC2):c.2097+5G>C
|
rs977777731
|
0.00001
|
NM_000548.5(TSC2):c.2097+7G>A
|
rs1280828990
|
0.00001
|
NM_000548.5(TSC2):c.2097+7G>C
|
rs1280828990
|
0.00001
|
NM_000548.5(TSC2):c.2098-12C>G
|
rs1460403520
|
0.00001
|
NM_000548.5(TSC2):c.2098-12C>T
|
rs1460403520
|
0.00001
|
NM_000548.5(TSC2):c.2098-15C>A
|
rs775111741
|
0.00001
|
NM_000548.5(TSC2):c.2098-16C>A
|
rs764694797
|
0.00001
|
NM_000548.5(TSC2):c.2098-4G>T
|
rs1306044216
|
0.00001
|
NM_000548.5(TSC2):c.2098-9T>C
|
rs755416873
|
0.00001
|
NM_000548.5(TSC2):c.2106C>T (p.Asp702=)
|
rs1396298404
|
0.00001
|
NM_000548.5(TSC2):c.2122C>T (p.Leu708=)
|
rs778040604
|
0.00001
|
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)
|
rs1225700612
|
0.00001
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala)
|
rs763351805
|
0.00001
|
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe)
|
rs781153452
|
0.00001
|
NM_000548.5(TSC2):c.2157T>C (p.Tyr719=)
|
rs902456479
|
0.00001
|
NM_000548.5(TSC2):c.2166C>T (p.Leu722=)
|
rs1009050362
|
0.00001
|
NM_000548.5(TSC2):c.216A>C (p.Lys72Asn)
|
rs1201047547
|
0.00001
|
NM_000548.5(TSC2):c.2196G>C (p.Gln732His)
|
rs765646245
|
0.00001
|
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr)
|
rs757347786
|
0.00001
|
NM_000548.5(TSC2):c.2220+15C>T
|
rs1455057080
|
0.00001
|
NM_000548.5(TSC2):c.2220+16T>C
|
rs749079366
|
0.00001
|
NM_000548.5(TSC2):c.2220+20G>T
|
rs747764105
|
0.00001
|
NM_000548.5(TSC2):c.2220+5C>T
|
rs1164941572
|
0.00001
|
NM_000548.5(TSC2):c.2220+6A>G
|
rs745822483
|
0.00001
|
NM_000548.5(TSC2):c.2221-19G>A
|
rs775879508
|
0.00001
|
NM_000548.5(TSC2):c.2238A>G (p.Thr746=)
|
rs1060504115
|
0.00001
|
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)
|
rs377397369
|
0.00001
|
NM_000548.5(TSC2):c.2248C>T (p.Leu750Phe)
|
rs754885213
|
0.00001
|
NM_000548.5(TSC2):c.225+12C>A
|
rs886038352
|
0.00001
|
NM_000548.5(TSC2):c.225+4G>A
|
rs201901739
|
0.00001
|
NM_000548.5(TSC2):c.2250C>T (p.Leu750=)
|
rs1387127083
|
0.00001
|
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)
|
rs749593050
|
0.00001
|
NM_000548.5(TSC2):c.2256C>T (p.Gly752=)
|
rs778981034
|
0.00001
|
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr)
|
rs574205203
|
0.00001
|
NM_000548.5(TSC2):c.226-15C>T
|
rs759316470
|
0.00001
|
NM_000548.5(TSC2):c.226-4A>G
|
rs886051786
|
0.00001
|
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys)
|
rs45517223
|
0.00001
|
NM_000548.5(TSC2):c.2278A>G (p.Thr760Ala)
|
rs1213793365
|
0.00001
|
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)
|
rs758234726
|
0.00001
|
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala)
|
rs780682938
|
0.00001
|
NM_000548.5(TSC2):c.2298G>C (p.Val766=)
|
rs1157138703
|
0.00001
|
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)
|
rs777459404
|
0.00001
|
NM_000548.5(TSC2):c.2308C>T (p.Leu770=)
|
rs762215859
|
0.00001
|
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile)
|
rs886051790
|
0.00001
|
NM_000548.5(TSC2):c.2322C>T (p.Ile774=)
|
rs760885994
|
0.00001
|
NM_000548.5(TSC2):c.2327A>G (p.Tyr776Cys)
|
rs766382381
|
0.00001
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
NM_000548.5(TSC2):c.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
NM_000548.5(TSC2):c.2337C>T (p.Tyr779=)
|
rs1060504118
|
0.00001
|
NM_000548.5(TSC2):c.233T>C (p.Val78Ala)
|
rs1163221525
|
0.00001
|
NM_000548.5(TSC2):c.2341G>A (p.Asp781Asn)
|
rs1278830553
|
0.00001
|
NM_000548.5(TSC2):c.2349C>T (p.Thr783=)
|
rs1003048370
|
0.00001
|
NM_000548.5(TSC2):c.234G>A (p.Val78=)
|
rs1347487177
|
0.00001
|
NM_000548.5(TSC2):c.2351A>G (p.Lys784Arg)
|
rs1489548085
|
0.00001
|
NM_000548.5(TSC2):c.2355+5G>A
|
rs756995937
|
0.00001
|
NM_000548.5(TSC2):c.2355+6A>T
|
rs904030973
|
0.00001
|
NM_000548.5(TSC2):c.2355+8G>A
|
rs199558375
|
0.00001
|
NM_000548.5(TSC2):c.2356-3C>T
|
rs1310938905
|
0.00001
|
NM_000548.5(TSC2):c.2356-4G>A
|
rs201156748
|
0.00001
|
NM_000548.5(TSC2):c.2357G>A (p.Arg786His)
|
rs796053511
|
0.00001
|
NM_000548.5(TSC2):c.2364G>A (p.Met788Ile)
|
rs773786955
|
0.00001
|
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)
|
rs779472379
|
0.00001
|
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala)
|
rs748669016
|
0.00001
|
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)
|
rs758961134
|
0.00001
|
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)
|
rs1366556255
|
0.00001
|
NM_000548.5(TSC2):c.2398T>C (p.Cys800Arg)
|
rs776930735
|
0.00001
|
NM_000548.5(TSC2):c.2413G>A (p.Val805Ile)
|
rs768683470
|
0.00001
|
NM_000548.5(TSC2):c.2415C>T (p.Val805=)
|
rs45517235
|
0.00001
|
NM_000548.5(TSC2):c.2416G>A (p.Val806Met)
|
rs796053473
|
0.00001
|
NM_000548.5(TSC2):c.2417T>C (p.Val806Ala)
|
rs1285249923
|
0.00001
|
NM_000548.5(TSC2):c.2436C>T (p.Ser812=)
|
rs767178958
|
0.00001
|
NM_000548.5(TSC2):c.2445G>T (p.Met815Ile)
|
rs1203344843
|
0.00001
|
NM_000548.5(TSC2):c.2446C>G (p.Pro816Ala)
|
rs760265207
|
0.00001
|
NM_000548.5(TSC2):c.2446C>T (p.Pro816Ser)
|
rs760265207
|
0.00001
|
NM_000548.5(TSC2):c.2454C>T (p.Ile818=)
|
rs786201599
|
0.00001
|
NM_000548.5(TSC2):c.2465C>T (p.Ala822Val)
|
rs936484229
|
0.00001
|
NM_000548.5(TSC2):c.2466G>A (p.Ala822=)
|
rs141728350
|
0.00001
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
NM_000548.5(TSC2):c.2473G>A (p.Val825Ile)
|
rs149860212
|
0.00001
|
NM_000548.5(TSC2):c.2484G>A (p.Val828=)
|
rs780395534
|
0.00001
|
NM_000548.5(TSC2):c.2492C>T (p.Thr831Met)
|
rs774380711
|
0.00001
|
NM_000548.5(TSC2):c.2496C>T (p.His832=)
|
rs1225070343
|
0.00001
|
NM_000548.5(TSC2):c.2515A>G (p.Met839Val)
|
rs876660457
|
0.00001
|
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)
|
rs549612492
|
0.00001
|
NM_000548.5(TSC2):c.2526A>G (p.Pro842=)
|
rs753466189
|
0.00001
|
NM_000548.5(TSC2):c.2529G>T (p.Leu843=)
|
rs759108698
|
0.00001
|
NM_000548.5(TSC2):c.252G>A (p.Ala84=)
|
rs1316543957
|
0.00001
|
NM_000548.5(TSC2):c.2535G>A (p.Glu845=)
|
rs2088947794
|
0.00001
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
0.00001
|
NM_000548.5(TSC2):c.2546-10A>G
|
rs551894111
|
0.00001
|
NM_000548.5(TSC2):c.2546-20C>G
|
rs1293594428
|
0.00001
|
NM_000548.5(TSC2):c.2546-4G>A
|
rs746958032
|
0.00001
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
NM_000548.5(TSC2):c.2554A>C (p.Arg852=)
|
rs769586763
|
0.00001
|
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu)
|
rs1180511535
|
0.00001
|
NM_000548.5(TSC2):c.2562G>A (p.Pro854=)
|
rs779606786
|
0.00001
|
NM_000548.5(TSC2):c.2568C>G (p.Leu856=)
|
rs886038354
|
0.00001
|
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)
|
rs1190158836
|
0.00001
|
NM_000548.5(TSC2):c.2571C>T (p.Tyr857=)
|
rs774063865
|
0.00001
|
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)
|
rs1369594860
|
0.00001
|
NM_000548.5(TSC2):c.2586G>A (p.Ala862=)
|
rs752865665
|
0.00001
|
NM_000548.5(TSC2):c.2592G>C (p.Gln864His)
|
rs763099064
|
0.00001
|
NM_000548.5(TSC2):c.2595T>C (p.Tyr865=)
|
rs1277430773
|
0.00001
|
NM_000548.5(TSC2):c.2598C>T (p.Ala866=)
|
rs1395372159
|
0.00001
|
NM_000548.5(TSC2):c.2601T>C (p.Ser867=)
|
rs878854086
|
0.00001
|
NM_000548.5(TSC2):c.2607C>T (p.Phe869=)
|
rs750336814
|
0.00001
|
NM_000548.5(TSC2):c.2610C>T (p.Ala870=)
|
rs755870234
|
0.00001
|
NM_000548.5(TSC2):c.2625C>T (p.Tyr875=)
|
rs1475326651
|
0.00001
|
NM_000548.5(TSC2):c.2631C>T (p.Asn877=)
|
rs45517251
|
0.00001
|
NM_000548.5(TSC2):c.2639+14C>T
|
rs1057520927
|
0.00001
|
NM_000548.5(TSC2):c.2639+15C>T
|
rs397515299
|
0.00001
|
NM_000548.5(TSC2):c.2640-10C>G
|
rs964883731
|
0.00001
|
NM_000548.5(TSC2):c.2640-3C>T
|
rs2089308821
|
0.00001
|
NM_000548.5(TSC2):c.2655C>T (p.Ile885=)
|
rs1060504116
|
0.00001
|
NM_000548.5(TSC2):c.2662C>T (p.Leu888=)
|
rs765057258
|
0.00001
|
NM_000548.5(TSC2):c.2674G>A (p.Val892Ile)
|
rs376801256
|
0.00001
|
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val)
|
rs777282955
|
0.00001
|
NM_000548.5(TSC2):c.2684T>C (p.Met895Thr)
|
rs1284083563
|
0.00001
|
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)
|
rs796053512
|
0.00001
|
NM_000548.5(TSC2):c.2702G>A (p.Arg901His)
|
rs1273957629
|
0.00001
|
NM_000548.5(TSC2):c.2719G>T (p.Asp907Tyr)
|
rs1287273870
|
0.00001
|
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)
|
rs774758044
|
0.00001
|
NM_000548.5(TSC2):c.2734A>G (p.Ile912Val)
|
rs748461293
|
0.00001
|
NM_000548.5(TSC2):c.2736C>T (p.Ile912=)
|
rs1366613803
|
0.00001
|
NM_000548.5(TSC2):c.273G>A (p.Pro91=)
|
rs772296140
|
0.00001
|
NM_000548.5(TSC2):c.2741A>C (p.Lys914Thr)
|
rs1405342761
|
0.00001
|
NM_000548.5(TSC2):c.2742+3G>A
|
rs373935836
|
0.00001
|
NM_000548.5(TSC2):c.2743-16G>A
|
rs896016432
|
0.00001
|
NM_000548.5(TSC2):c.2743-17T>G
|
rs1057375876
|
0.00001
|
NM_000548.5(TSC2):c.2743-4C>T
|
rs1258692002
|
0.00001
|
NM_000548.5(TSC2):c.2748G>A (p.Leu916=)
|
rs757674443
|
0.00001
|
NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp)
|
rs781587135
|
0.00001
|
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)
|
rs780057014
|
0.00001
|
NM_000548.5(TSC2):c.2759T>C (p.Val920Ala)
|
rs749383639
|
0.00001
|
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val)
|
rs201835391
|
0.00001
|
NM_000548.5(TSC2):c.2766G>A (p.Leu922=)
|
rs772858520
|
0.00001
|
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)
|
rs587778731
|
0.00001
|
NM_000548.5(TSC2):c.2778C>T (p.Asp926=)
|
rs776069297
|
0.00001
|
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp)
|
rs760688660
|
0.00001
|
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)
|
rs144329595
|
0.00001
|
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys)
|
rs45517269
|
0.00001
|
NM_000548.5(TSC2):c.2803G>A (p.Ala935Thr)
|
rs979456797
|
0.00001
|
NM_000548.5(TSC2):c.2814T>C (p.Thr938=)
|
rs950740348
|
0.00001
|
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)
|
rs200045926
|
0.00001
|
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp)
|
rs878854087
|
0.00001
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
NM_000548.5(TSC2):c.2828G>A (p.Arg943Lys)
|
rs1447031509
|
0.00001
|
NM_000548.5(TSC2):c.2837+10G>A
|
rs1232454175
|
0.00001
|
NM_000548.5(TSC2):c.2837+11C>T
|
rs754592874
|
0.00001
|
NM_000548.5(TSC2):c.2837+14G>C
|
rs975343086
|
0.00001
|
NM_000548.5(TSC2):c.2837+16G>A
|
rs397515095
|
0.00001
|
NM_000548.5(TSC2):c.2837+4C>T
|
rs544409858
|
0.00001
|
NM_000548.5(TSC2):c.2838-16C>T
|
rs778996893
|
0.00001
|
NM_000548.5(TSC2):c.2838-6C>T
|
rs528706539
|
0.00001
|
NM_000548.5(TSC2):c.2844G>A (p.Arg948=)
|
rs1060504114
|
0.00001
|
NM_000548.5(TSC2):c.2858C>A (p.Pro953His)
|
rs1303011979
|
0.00001
|
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg)
|
rs397515191
|
0.00001
|
NM_000548.5(TSC2):c.2870T>G (p.Leu957Trp)
|
rs200030367
|
0.00001
|
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)
|
rs147523833
|
0.00001
|
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)
|
rs370415754
|
0.00001
|
NM_000548.5(TSC2):c.2884C>T (p.Pro962Ser)
|
rs1477697117
|
0.00001
|
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)
|
rs140202176
|
0.00001
|
NM_000548.5(TSC2):c.2896T>C (p.Phe966Leu)
|
rs1567490884
|
0.00001
|
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)
|
rs1168031047
|
0.00001
|
NM_000548.5(TSC2):c.2910T>C (p.Ser970=)
|
rs777705428
|
0.00001
|
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)
|
rs780981335
|
0.00001
|
NM_000548.5(TSC2):c.2927G>A (p.Arg976Gln)
|
rs779832805
|
0.00001
|
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys)
|
rs768241596
|
0.00001
|
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)
|
rs1478204355
|
0.00001
|
NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly)
|
rs2089595149
|
0.00001
|
NM_000548.5(TSC2):c.2944G>T (p.Val982Leu)
|
rs773864188
|
0.00001
|
NM_000548.5(TSC2):c.2954A>G (p.His985Arg)
|
rs1330306605
|
0.00001
|
NM_000548.5(TSC2):c.2956G>A (p.Val986Met)
|
rs765489754
|
0.00001
|
NM_000548.5(TSC2):c.2958G>T (p.Val986=)
|
rs1114167464
|
0.00001
|
NM_000548.5(TSC2):c.2961C>G (p.Val987=)
|
rs775637322
|
0.00001
|
NM_000548.5(TSC2):c.2966+15G>T
|
rs779884344
|
0.00001
|
NM_000548.5(TSC2):c.2966+4G>T
|
rs1235253082
|
0.00001
|
NM_000548.5(TSC2):c.2966+5C>T
|
rs767328300
|
0.00001
|
NM_000548.5(TSC2):c.2967-10C>T
|
rs1322718501
|
0.00001
|
NM_000548.5(TSC2):c.2967-13C>T
|
rs536150612
|
0.00001
|
NM_000548.5(TSC2):c.2967-8C>T
|
rs1060504085
|
0.00001
|
NM_000548.5(TSC2):c.2967C>T (p.Ser989=)
|
rs766417784
|
0.00001
|
NM_000548.5(TSC2):c.2970G>T (p.Arg990Ser)
|
rs1317631053
|
0.00001
|
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val)
|
rs369524855
|
0.00001
|
NM_000548.5(TSC2):c.2997C>T (p.Ser999=)
|
rs893757571
|
0.00001
|
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=)
|
rs756679047
|
0.00001
|
NM_000548.5(TSC2):c.3002G>T (p.Gly1001Val)
|
rs368878445
|
0.00001
|
NM_000548.5(TSC2):c.301G>A (p.Val101Met)
|
rs878854089
|
0.00001
|
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=)
|
rs201516931
|
0.00001
|
NM_000548.5(TSC2):c.3027C>A (p.Ala1009=)
|
rs1320888448
|
0.00001
|
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)
|
rs762570079
|
0.00001
|
NM_000548.5(TSC2):c.3057C>T (p.His1019=)
|
rs1060504102
|
0.00001
|
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)
|
rs754276150
|
0.00001
|
NM_000548.5(TSC2):c.3114C>A (p.Phe1038Leu)
|
rs1567497089
|
0.00001
|
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val)
|
rs2089807202
|
0.00001
|
NM_000548.5(TSC2):c.3131+8C>T
|
rs763702215
|
0.00001
|
NM_000548.5(TSC2):c.3132-11C>T
|
rs2089819486
|
0.00001
|
NM_000548.5(TSC2):c.3132-13C>T
|
rs371948435
|
0.00001
|
NM_000548.5(TSC2):c.3132-17C>T
|
rs781476832
|
0.00001
|
NM_000548.5(TSC2):c.3132-7C>T
|
rs2089820591
|
0.00001
|
NM_000548.5(TSC2):c.3132-9G>A
|
rs1367489214
|
0.00001
|
NM_000548.5(TSC2):c.3139G>A (p.Val1047Met)
|
rs761513970
|
0.00001
|
NM_000548.5(TSC2):c.3150C>T (p.Phe1050=)
|
rs1060504105
|
0.00001
|
NM_000548.5(TSC2):c.3165C>T (p.Gly1055=)
|
rs1215210783
|
0.00001
|
NM_000548.5(TSC2):c.3171C>G (p.Thr1057=)
|
rs1487006409
|
0.00001
|
NM_000548.5(TSC2):c.3176C>T (p.Thr1059Ile)
|
rs753205147
|
0.00001
|
NM_000548.5(TSC2):c.318G>A (p.Lys106=)
|
rs756890243
|
0.00001
|
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)
|
rs751955670
|
0.00001
|
NM_000548.5(TSC2):c.3199G>C (p.Val1067Leu)
|
rs200681169
|
0.00001
|
NM_000548.5(TSC2):c.3201C>G (p.Val1067=)
|
rs781532053
|
0.00001
|
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)
|
rs147989574
|
0.00001
|
NM_000548.5(TSC2):c.3216C>T (p.Ser1072=)
|
rs1306234469
|
0.00001
|
NM_000548.5(TSC2):c.323T>C (p.Ile108Thr)
|
rs1233900284
|
0.00001
|
NM_000548.5(TSC2):c.324C>T (p.Ile108=)
|
rs973500815
|
0.00001
|
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro)
|
rs767655384
|
0.00001
|
NM_000548.5(TSC2):c.3277G>A (p.Glu1093Lys)
|
rs1182829976
|
0.00001
|
NM_000548.5(TSC2):c.327G>A (p.Val109=)
|
rs754348511
|
0.00001
|
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=)
|
rs1060504095
|
0.00001
|
NM_000548.5(TSC2):c.3284+10C>T
|
rs776269274
|
0.00001
|
NM_000548.5(TSC2):c.3284+18T>G
|
rs1280873987
|
0.00001
|
NM_000548.5(TSC2):c.3284+19C>T
|
rs1391837432
|
0.00001
|
NM_000548.5(TSC2):c.3284+20C>T
|
rs1057521477
|
0.00001
|
NM_000548.5(TSC2):c.3284+6T>G
|
rs375837026
|
0.00001
|
NM_000548.5(TSC2):c.3285-19C>T
|
rs45517291
|
0.00001
|
NM_000548.5(TSC2):c.3285-4T>G
|
rs756951926
|
0.00001
|
NM_000548.5(TSC2):c.3285-5C>T
|
rs1444989940
|
0.00001
|
NM_000548.5(TSC2):c.3285C>T (p.Ser1095=)
|
rs745446277
|
0.00001
|
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro)
|
rs755815612
|
0.00001
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)
|
rs150126331
|
0.00001
|
NM_000548.5(TSC2):c.3297G>C (p.Gly1099=)
|
rs138459325
|
0.00001
|
NM_000548.5(TSC2):c.3298G>T (p.Val1100Leu)
|
rs1596385749
|
0.00001
|
NM_000548.5(TSC2):c.3300G>A (p.Val1100=)
|
rs765436350
|
0.00001
|
NM_000548.5(TSC2):c.3301C>T (p.His1101Tyr)
|
rs1060500933
|
0.00001
|
NM_000548.5(TSC2):c.3303T>C (p.His1101=)
|
rs1233334406
|
0.00001
|
NM_000548.5(TSC2):c.3306G>C (p.Val1102=)
|
rs762917290
|
0.00001
|
NM_000548.5(TSC2):c.3317A>T (p.Lys1106Met)
|
rs764113584
|
0.00001
|
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)
|
rs1060504119
|
0.00001
|
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro)
|
rs1260370117
|
0.00001
|
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu)
|
rs397515308
|
0.00001
|
NM_000548.5(TSC2):c.336+10A>G
|
rs587778005
|
0.00001
|
NM_000548.5(TSC2):c.336+15G>A
|
rs777904257
|
0.00001
|
NM_000548.5(TSC2):c.336+17C>T
|
rs754295761
|
0.00001
|
NM_000548.5(TSC2):c.336+8C>T
|
rs779174834
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.3368G>A (p.Gly1123Glu)
|
rs1060500968
|
0.00001
|
NM_000548.5(TSC2):c.3369G>A (p.Gly1123=)
|
rs1555510958
|
0.00001
|
NM_000548.5(TSC2):c.337-15G>C
|
rs772983704
|
0.00001
|
NM_000548.5(TSC2):c.337-3T>C
|
rs770515822
|
0.00001
|
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp)
|
rs747420910
|
0.00001
|
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln)
|
rs796053475
|
0.00001
|
NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys)
|
rs1028039505
|
0.00001
|
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His)
|
rs1412967226
|
0.00001
|
NM_000548.5(TSC2):c.3388T>G (p.Ser1130Ala)
|
rs770048768
|
0.00001
|
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=)
|
rs867238767
|
0.00001
|
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)
|
rs775639244
|
0.00001
|
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)
|
rs763122999
|
0.00001
|
NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu)
|
rs137854074
|
0.00001
|
NM_000548.5(TSC2):c.3397+15C>T
|
rs202246408
|
0.00001
|
NM_000548.5(TSC2):c.3397+20A>G
|
rs376079104
|
0.00001
|
NM_000548.5(TSC2):c.3397+3G>A
|
rs1481437660
|
0.00001
|
NM_000548.5(TSC2):c.3397+6C>A
|
rs955636757
|
0.00001
|
NM_000548.5(TSC2):c.3397+7C>T
|
rs767531844
|
0.00001
|
NM_000548.5(TSC2):c.3398-18C>T
|
rs772159760
|
0.00001
|
NM_000548.5(TSC2):c.3398-9C>T
|
rs555194713
|
0.00001
|
NM_000548.5(TSC2):c.339C>A (p.Gly113=)
|
rs368451664
|
0.00001
|
NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp)
|
rs766223343
|
0.00001
|
NM_000548.5(TSC2):c.3404A>G (p.His1135Arg)
|
rs1309968292
|
0.00001
|
NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile)
|
rs759174655
|
0.00001
|
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu)
|
rs397515162
|
0.00001
|
NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg)
|
rs772215032
|
0.00001
|
NM_000548.5(TSC2):c.3461C>T (p.Thr1154Ile)
|
rs377137483
|
0.00001
|
NM_000548.5(TSC2):c.346T>C (p.Leu116=)
|
rs751923657
|
0.00001
|
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala)
|
rs759350468
|
0.00001
|
NM_000548.5(TSC2):c.3480T>C (p.Thr1160=)
|
rs766888262
|
0.00001
|
NM_000548.5(TSC2):c.3480T>G (p.Thr1160=)
|
rs766888262
|
0.00001
|
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser)
|
rs895935495
|
0.00001
|
NM_000548.5(TSC2):c.3486A>G (p.Pro1162=)
|
rs1277144134
|
0.00001
|
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser)
|
rs560522093
|
0.00001
|
NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu)
|
rs762650392
|
0.00001
|
NM_000548.5(TSC2):c.3518C>T (p.Thr1173Ile)
|
rs2089969949
|
0.00001
|
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)
|
rs368666554
|
0.00001
|
NM_000548.5(TSC2):c.3528T>C (p.Pro1176=)
|
rs1157894225
|
0.00001
|
NM_000548.5(TSC2):c.352G>T (p.Val118Phe)
|
rs878854094
|
0.00001
|
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu)
|
rs45517297
|
0.00001
|
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)
|
rs45483391
|
0.00001
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
NM_000548.5(TSC2):c.3551C>A (p.Ala1184Glu)
|
rs1060500939
|
0.00001
|
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val)
|
rs1057521812
|
0.00001
|
NM_000548.5(TSC2):c.3555C>T (p.Ala1185=)
|
rs745762286
|
0.00001
|
NM_000548.5(TSC2):c.356T>G (p.Leu119Arg)
|
rs1477548902
|
0.00001
|
NM_000548.5(TSC2):c.3570G>A (p.Leu1190=)
|
rs1366398727
|
0.00001
|
NM_000548.5(TSC2):c.3573C>T (p.Thr1191=)
|
rs768318835
|
0.00001
|
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=)
|
rs202114637
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.3610+11G>A
|
rs751767873
|
0.00001
|
NM_000548.5(TSC2):c.3610+3A>G
|
rs760153227
|
0.00001
|
NM_000548.5(TSC2):c.3615C>T (p.Asn1205=)
|
rs924403519
|
0.00001
|
NM_000548.5(TSC2):c.3625C>T (p.Leu1209=)
|
rs1466425189
|
0.00001
|
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)
|
rs767755750
|
0.00001
|
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=)
|
rs1358537146
|
0.00001
|
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=)
|
rs747862818
|
0.00001
|
NM_000548.5(TSC2):c.3648C>T (p.Leu1216=)
|
rs777246414
|
0.00001
|
NM_000548.5(TSC2):c.364C>T (p.Leu122Phe)
|
rs1175373447
|
0.00001
|
NM_000548.5(TSC2):c.3671A>T (p.Asn1224Ile)
|
rs1434962054
|
0.00001
|
NM_000548.5(TSC2):c.3675C>T (p.Asn1225=)
|
rs1483188996
|
0.00001
|
NM_000548.5(TSC2):c.3676A>G (p.Met1226Val)
|
rs769283410
|
0.00001
|
NM_000548.5(TSC2):c.3682C>T (p.Leu1228=)
|
rs938124834
|
0.00001
|
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=)
|
rs876659207
|
0.00001
|
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe)
|
rs886039876
|
0.00001
|
NM_000548.5(TSC2):c.3696T>C (p.Ser1232=)
|
rs767812115
|
0.00001
|
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)
|
rs773240506
|
0.00001
|
NM_000548.5(TSC2):c.369C>T (p.Phe123=)
|
rs1567399252
|
0.00001
|
NM_000548.5(TSC2):c.3705C>T (p.Leu1235=)
|
rs1386839308
|
0.00001
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
NM_000548.5(TSC2):c.3717G>A (p.Glu1239=)
|
rs765060368
|
0.00001
|
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys)
|
rs137854353
|
0.00001
|
NM_000548.5(TSC2):c.3732C>T (p.His1244=)
|
rs1264194267
|
0.00001
|
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln)
|
rs746588726
|
0.00001
|
NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala)
|
rs369961807
|
0.00001
|
NM_000548.5(TSC2):c.3750C>T (p.Tyr1250=)
|
rs45517308
|
0.00001
|
NM_000548.5(TSC2):c.3757C>T (p.Leu1253=)
|
rs1596400529
|
0.00001
|
NM_000548.5(TSC2):c.3759G>A (p.Leu1253=)
|
rs878854095
|
0.00001
|
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)
|
rs778928295
|
0.00001
|
NM_000548.5(TSC2):c.3773C>A (p.Ala1258Asp)
|
rs1060500958
|
0.00001
|
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
NM_000548.5(TSC2):c.3783C>T (p.Ala1261=)
|
rs2090170500
|
0.00001
|
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)
|
rs1233661099
|
0.00001
|
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu)
|
rs1057523452
|
0.00001
|
NM_000548.5(TSC2):c.378C>G (p.Val126=)
|
rs1222534983
|
0.00001
|
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)
|
rs45517311
|
0.00001
|
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser)
|
rs757010959
|
0.00001
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser)
|
rs1304251276
|
0.00001
|
NM_000548.5(TSC2):c.3814+10A>G
|
rs200309006
|
0.00001
|
NM_000548.5(TSC2):c.3814+15G>A
|
rs201225719
|
0.00001
|
NM_000548.5(TSC2):c.3814+7G>A
|
rs372189946
|
0.00001
|
NM_000548.5(TSC2):c.3814+9C>A
|
rs371944932
|
0.00001
|
NM_000548.5(TSC2):c.3814+9C>T
|
rs371944932
|
0.00001
|
NM_000548.5(TSC2):c.3815-18C>A
|
rs947736117
|
0.00001
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
NM_000548.5(TSC2):c.3815-4G>T
|
rs1410163756
|
0.00001
|
NM_000548.5(TSC2):c.3815-7C>G
|
rs1441898498
|
0.00001
|
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)
|
rs45517314
|
0.00001
|
NM_000548.5(TSC2):c.381C>G (p.Ile127Met)
|
rs2085502591
|
0.00001
|
NM_000548.5(TSC2):c.3834G>A (p.Leu1278=)
|
rs766029525
|
0.00001
|
NM_000548.5(TSC2):c.3843C>T (p.Ser1281=)
|
rs1223688571
|
0.00001
|
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn)
|
rs748095129
|
0.00001
|
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter)
|
rs753308966
|
0.00001
|
NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr)
|
rs771961048
|
0.00001
|
NM_000548.5(TSC2):c.3866G>A (p.Arg1289Lys)
|
rs900604900
|
0.00001
|
NM_000548.5(TSC2):c.3883+15A>C
|
rs112925751
|
0.00001
|
NM_000548.5(TSC2):c.3883+5C>T
|
rs45448994
|
0.00001
|
NM_000548.5(TSC2):c.3884-18C>G
|
rs879594483
|
0.00001
|
NM_000548.5(TSC2):c.3884-5C>T
|
rs980261526
|
0.00001
|
NM_000548.5(TSC2):c.3884-8C>G
|
rs397515219
|
0.00001
|
NM_000548.5(TSC2):c.3893T>C (p.Val1298Ala)
|
rs758677443
|
0.00001
|
NM_000548.5(TSC2):c.3899T>A (p.Met1300Lys)
|
rs1349341137
|
0.00001
|
NM_000548.5(TSC2):c.3902A>G (p.Glu1301Gly)
|
rs2090419224
|
0.00001
|
NM_000548.5(TSC2):c.3910A>T (p.Ser1304Cys)
|
rs1305173000
|
0.00001
|
NM_000548.5(TSC2):c.3911G>T (p.Ser1304Ile)
|
rs751564566
|
0.00001
|
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041
|
0.00001
|
NM_000548.5(TSC2):c.3933G>T (p.Leu1311=)
|
rs768160843
|
0.00001
|
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp)
|
rs149340262
|
0.00001
|
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala)
|
rs771499212
|
0.00001
|
NM_000548.5(TSC2):c.3941C>T (p.Pro1314Leu)
|
rs1217156011
|
0.00001
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)
|
rs587778737
|
0.00001
|
NM_000548.5(TSC2):c.3964G>A (p.Ala1322Thr)
|
rs759790981
|
0.00001
|
NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp)
|
rs754680848
|
0.00001
|
NM_000548.5(TSC2):c.3985C>T (p.Arg1329Cys)
|
rs747695245
|
0.00001
|
NM_000548.5(TSC2):c.3997T>G (p.Tyr1333Asp)
|
rs901222751
|
0.00001
|
NM_000548.5(TSC2):c.3999C>T (p.Tyr1333=)
|
rs775604492
|
0.00001
|
NM_000548.5(TSC2):c.4001G>A (p.Ser1334Asn)
|
rs1060500964
|
0.00001
|
NM_000548.5(TSC2):c.4002C>G (p.Ser1334Arg)
|
rs1060500911
|
0.00001
|
NM_000548.5(TSC2):c.4005+11C>T
|
rs768957548
|
0.00001
|
NM_000548.5(TSC2):c.4005+14A>G
|
rs774371313
|
0.00001
|
NM_000548.5(TSC2):c.4005+17G>A
|
rs1346482272
|
0.00001
|
NM_000548.5(TSC2):c.4005+18C>T
|
rs1339579825
|
0.00001
|
NM_000548.5(TSC2):c.4006-14A>G
|
rs1350511311
|
0.00001
|
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
NM_000548.5(TSC2):c.4019C>T (p.Ser1340Phe)
|
rs753656246
|
0.00001
|
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)
|
rs45517326
|
0.00001
|
NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val)
|
rs377050648
|
0.00001
|
NM_000548.5(TSC2):c.4040T>C (p.Leu1347Pro)
|
rs1221929408
|
0.00001
|
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)
|
rs201979616
|
0.00001
|
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp)
|
rs747104864
|
0.00001
|
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe)
|
rs1350803240
|
0.00001
|
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala)
|
rs878854104
|
0.00001
|
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)
|
rs144098854
|
0.00001
|
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)
|
rs397514997
|
0.00001
|
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=)
|
rs786203798
|
0.00001
|
NM_000548.5(TSC2):c.4086C>T (p.Val1362=)
|
rs763847509
|
0.00001
|
NM_000548.5(TSC2):c.408T>G (p.Leu136=)
|
rs1037058497
|
0.00001
|
NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala)
|
rs1300203299
|
0.00001
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00001
|
NM_000548.5(TSC2):c.4146G>A (p.Leu1382=)
|
rs1162436739
|
0.00001
|
NM_000548.5(TSC2):c.4170G>A (p.Glu1390=)
|
rs1244952951
|
0.00001
|
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)
|
rs749930791
|
0.00001
|
NM_000548.5(TSC2):c.4182G>A (p.Leu1394=)
|
rs1191824850
|
0.00001
|
NM_000548.5(TSC2):c.4191C>T (p.Ile1397=)
|
rs1170748581
|
0.00001
|
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)
|
rs1060500928
|
0.00001
|
NM_000548.5(TSC2):c.4196G>A (p.Gly1399Glu)
|
rs2090504166
|
0.00001
|
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
|
rs778147657
|
0.00001
|
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu)
|
rs1384101814
|
0.00001
|
NM_000548.5(TSC2):c.4230G>C (p.Leu1410=)
|
rs1193907816
|
0.00001
|
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn)
|
rs1267811475
|
0.00001
|
NM_000548.5(TSC2):c.4246G>T (p.Ala1416Ser)
|
rs1001211672
|
0.00001
|
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)
|
rs562443546
|
0.00001
|
NM_000548.5(TSC2):c.4257G>C (p.Gln1419His)
|
rs1403321543
|
0.00001
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu)
|
rs1368001965
|
0.00001
|
NM_000548.5(TSC2):c.4265C>T (p.Thr1422Ile)
|
rs760230300
|
0.00001
|
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)
|
rs763497329
|
0.00001
|
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)
|
rs1057522238
|
0.00001
|
NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly)
|
rs1248855623
|
0.00001
|
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)
|
rs764533757
|
0.00001
|
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)
|
rs757579310
|
0.00001
|
NM_000548.5(TSC2):c.429C>T (p.Phe143=)
|
rs137854406
|
0.00001
|
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)
|
rs45448791
|
0.00001
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00001
|
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys)
|
rs45469392
|
0.00001
|
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)
|
rs1459518095
|
0.00001
|
NM_000548.5(TSC2):c.4331C>T (p.Pro1444Leu)
|
rs550084361
|
0.00001
|
NM_000548.5(TSC2):c.4332C>G (p.Pro1444=)
|
rs373973956
|
0.00001
|
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)
|
rs774892845
|
0.00001
|
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala)
|
rs376381196
|
0.00001
|
NM_000548.5(TSC2):c.434C>T (p.Ala145Val)
|
rs1596265255
|
0.00001
|
NM_000548.5(TSC2):c.4359C>T (p.Pro1453=)
|
rs1212442267
|
0.00001
|
NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr)
|
rs1189784704
|
0.00001
|
NM_000548.5(TSC2):c.4383C>T (p.Tyr1461=)
|
rs397514977
|
0.00001
|
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser)
|
rs373018205
|
0.00001
|
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys)
|
rs767889030
|
0.00001
|
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)
|
rs558737770
|
0.00001
|
NM_000548.5(TSC2):c.4420A>G (p.Arg1474Gly)
|
rs766719443
|
0.00001
|
NM_000548.5(TSC2):c.4425A>C (p.Val1475=)
|
rs878854106
|
0.00001
|
NM_000548.5(TSC2):c.4430G>A (p.Arg1477Lys)
|
rs752693719
|
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.4454C>T (p.Thr1485Ile)
|
rs772667717
|
0.00001
|
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val)
|
rs773527337
|
0.00001
|
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys)
|
rs766916450
|
0.00001
|
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)
|
rs1029118280
|
0.00001
|
NM_000548.5(TSC2):c.4470G>C (p.Glu1490Asp)
|
rs1221986548
|
0.00001
|
NM_000548.5(TSC2):c.447T>C (p.Asn149=)
|
rs750717653
|
0.00001
|
NM_000548.5(TSC2):c.4493+13C>T
|
rs757183419
|
0.00001
|
NM_000548.5(TSC2):c.4494-10C>A
|
rs753499012
|
0.00001
|
NM_000548.5(TSC2):c.4494-12C>T
|
rs780056359
|
0.00001
|
NM_000548.5(TSC2):c.4494-15C>T
|
rs993595235
|
0.00001
|
NM_000548.5(TSC2):c.4494-19C>T
|
rs779772312
|
0.00001
|
NM_000548.5(TSC2):c.4497C>T (p.Phe1499=)
|
rs372974007
|
0.00001
|
NM_000548.5(TSC2):c.4503C>T (p.Phe1501=)
|
rs778332133
|
0.00001
|
NM_000548.5(TSC2):c.4504C>T (p.Leu1502=)
|
rs928525608
|
0.00001
|
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr)
|
rs1173459869
|
0.00001
|
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn)
|
rs774441486
|
0.00001
|
NM_000548.5(TSC2):c.4537G>A (p.Glu1513Lys)
|
rs767449740
|
0.00001
|
NM_000548.5(TSC2):c.4545C>T (p.Asn1515=)
|
rs753641948
|
0.00001
|
NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu)
|
rs1279603512
|
0.00001
|
NM_000548.5(TSC2):c.4555C>T (p.Leu1519=)
|
rs958487832
|
0.00001
|
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=)
|
rs1260508226
|
0.00001
|
NM_000548.5(TSC2):c.4561C>T (p.Pro1521Ser)
|
rs1468281970
|
0.00001
|
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly)
|
rs777406873
|
0.00001
|
NM_000548.5(TSC2):c.4569+11C>T
|
rs749616902
|
0.00001
|
NM_000548.5(TSC2):c.4569+18C>T
|
rs1278654590
|
0.00001
|
NM_000548.5(TSC2):c.4569+20C>T
|
rs774494009
|
0.00001
|
NM_000548.5(TSC2):c.4569+4G>A
|
rs1051944517
|
0.00001
|
NM_000548.5(TSC2):c.4569+5G>A
|
rs746446349
|
0.00001
|
NM_000548.5(TSC2):c.4569+6C>T
|
rs756614796
|
0.00001
|
NM_000548.5(TSC2):c.4569+7G>A
|
rs45497598
|
0.00001
|
NM_000548.5(TSC2):c.4569+7G>C
|
rs45497598
|
0.00001
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.4570-20C>T
|
rs761324622
|
0.00001
|
NM_000548.5(TSC2):c.4570-3C>T
|
rs1166715944
|
0.00001
|
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr)
|
rs796053498
|
0.00001
|
NM_000548.5(TSC2):c.457A>G (p.Ile153Val)
|
rs1555497700
|
0.00001
|
NM_000548.5(TSC2):c.4581T>C (p.Phe1527=)
|
rs745860116
|
0.00001
|
NM_000548.5(TSC2):c.4591G>A (p.Val1531Met)
|
rs762797016
|
0.00001
|
NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn)
|
rs45517353
|
0.00001
|
NM_000548.5(TSC2):c.4608G>T (p.Gln1536His)
|
rs749875773
|
0.00001
|
NM_000548.5(TSC2):c.4614A>G (p.Pro1538=)
|
rs1382897280
|
0.00001
|
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=)
|
rs201038907
|
0.00001
|
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
NM_000548.5(TSC2):c.4626C>A (p.Thr1542=)
|
rs1164781795
|
0.00001
|
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=)
|
rs757388437
|
0.00001
|
NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr)
|
rs1332979299
|
0.00001
|
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)
|
rs745895675
|
0.00001
|
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)
|
rs755177576
|
0.00001
|
NM_000548.5(TSC2):c.4663-10C>G
|
rs766608928
|
0.00001
|
NM_000548.5(TSC2):c.4663-5C>T
|
rs1555515976
|
0.00001
|
NM_000548.5(TSC2):c.4663-6C>T
|
rs1596437883
|
0.00001
|
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=)
|
rs45517361
|
0.00001
|
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)
|
rs45517363
|
0.00001
|
NM_000548.5(TSC2):c.4692T>C (p.Asn1564=)
|
rs774664591
|
0.00001
|
NM_000548.5(TSC2):c.4697A>G (p.His1566Arg)
|
rs1448001502
|
0.00001
|
NM_000548.5(TSC2):c.4704C>T (p.Ser1568=)
|
rs916198158
|
0.00001
|
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)
|
rs397515277
|
0.00001
|
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=)
|
rs766665967
|
0.00001
|
NM_000548.5(TSC2):c.471G>A (p.Glu157=)
|
rs1449885781
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln)
|
rs1371745883
|
0.00001
|
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=)
|
rs930171871
|
0.00001
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00001
|
NM_000548.5(TSC2):c.4758C>G (p.Asp1586Glu)
|
rs1366814192
|
0.00001
|
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)
|
rs373635516
|
0.00001
|
NM_000548.5(TSC2):c.4779C>T (p.Tyr1593=)
|
rs45517368
|
0.00001
|
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=)
|
rs377474730
|
0.00001
|
NM_000548.5(TSC2):c.481+10A>G
|
rs1196443311
|
0.00001
|
NM_000548.5(TSC2):c.481+11C>A
|
rs975536162
|
0.00001
|
NM_000548.5(TSC2):c.481+14T>G
|
rs1160412532
|
0.00001
|
NM_000548.5(TSC2):c.481+9C>T
|
rs201026150
|
0.00001
|
NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser)
|
rs771289256
|
0.00001
|
NM_000548.5(TSC2):c.481G>A (p.Ala161Thr)
|
rs1157976261
|
0.00001
|
NM_000548.5(TSC2):c.482-17C>T
|
rs201589515
|
0.00001
|
NM_000548.5(TSC2):c.482-4C>T
|
rs780938957
|
0.00001
|
NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=)
|
rs1422829075
|
0.00001
|
NM_000548.5(TSC2):c.4833C>T (p.His1611=)
|
rs765271161
|
0.00001
|
NM_000548.5(TSC2):c.4839C>T (p.Asp1613=)
|
rs876660657
|
0.00001
|
NM_000548.5(TSC2):c.4848A>G (p.Gln1616=)
|
rs762819541
|
0.00001
|
NM_000548.5(TSC2):c.4849+3A>T
|
rs1057521378
|
0.00001
|
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn)
|
rs1257721773
|
0.00001
|
NM_000548.5(TSC2):c.4850-10T>A
|
rs1238997365
|
0.00001
|
NM_000548.5(TSC2):c.4850-12G>A
|
rs371810493
|
0.00001
|
NM_000548.5(TSC2):c.4850-18G>A
|
rs902020009
|
0.00001
|
NM_000548.5(TSC2):c.4850-6C>T
|
rs1060504082
|
0.00001
|
NM_000548.5(TSC2):c.4850-7C>T
|
rs1188604363
|
0.00001
|
NM_000548.5(TSC2):c.4850-8A>G
|
rs372258482
|
0.00001
|
NM_000548.5(TSC2):c.4850C>G (p.Ala1617Gly)
|
rs1412545821
|
0.00001
|
NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr)
|
rs769913589
|
0.00001
|
NM_000548.5(TSC2):c.4868C>G (p.Thr1623Ser)
|
rs397515220
|
0.00001
|
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly)
|
rs767444397
|
0.00001
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
NM_000548.5(TSC2):c.4893C>T (p.Asp1631=)
|
rs772915632
|
0.00001
|
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=)
|
rs137854094
|
0.00001
|
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys)
|
rs1555438551
|
0.00001
|
NM_000548.5(TSC2):c.492C>T (p.Val164=)
|
rs1424637610
|
0.00001
|
NM_000548.5(TSC2):c.4941C>T (p.Ser1647=)
|
rs780279747
|
0.00001
|
NM_000548.5(TSC2):c.4945G>A (p.Val1649Ile)
|
rs768846712
|
0.00001
|
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)
|
rs1283177454
|
0.00001
|
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val)
|
rs1555438692
|
0.00001
|
NM_000548.5(TSC2):c.4977T>G (p.Leu1659=)
|
rs2090868794
|
0.00001
|
NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile)
|
rs776541842
|
0.00001
|
NM_000548.5(TSC2):c.4989+10G>T
|
rs1357118862
|
0.00001
|
NM_000548.5(TSC2):c.4989+12G>A
|
rs1343916460
|
0.00001
|
NM_000548.5(TSC2):c.4989+19G>A
|
rs762466695
|
0.00001
|
NM_000548.5(TSC2):c.4989+20T>A
|
rs763498977
|
0.00001
|
NM_000548.5(TSC2):c.4989+7G>A
|
rs1460236999
|
0.00001
|
NM_000548.5(TSC2):c.4990-10G>C
|
rs751012275
|
0.00001
|
NM_000548.5(TSC2):c.4990-13C>T
|
rs1346991628
|
0.00001
|
NM_000548.5(TSC2):c.4990-20C>G
|
rs762508695
|
0.00001
|
NM_000548.5(TSC2):c.4990-4G>A
|
rs1368879013
|
0.00001
|
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu)
|
rs757221445
|
0.00001
|
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)
|
rs1555498118
|
0.00001
|
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
|
rs775395648
|
0.00001
|
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile)
|
rs1555439727
|
0.00001
|
NM_000548.5(TSC2):c.5022C>T (p.Thr1674=)
|
rs777184691
|
0.00001
|
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
|
rs1163037065
|
0.00001
|
NM_000548.5(TSC2):c.5030A>C (p.Asp1677Ala)
|
rs1332296997
|
0.00001
|
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=)
|
rs878854113
|
0.00001
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
NM_000548.5(TSC2):c.5038T>G (p.Cys1680Gly)
|
rs1555439802
|
0.00001
|
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr)
|
rs150558493
|
0.00001
|
NM_000548.5(TSC2):c.5049G>T (p.Val1683=)
|
rs1256890176
|
0.00001
|
NM_000548.5(TSC2):c.504G>T (p.Met168Ile)
|
rs748692173
|
0.00001
|
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=)
|
rs200700923
|
0.00001
|
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=)
|
rs779923426
|
0.00001
|
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)
|
rs137854315
|
0.00001
|
NM_000548.5(TSC2):c.5067A>G (p.Lys1689=)
|
rs1018327394
|
0.00001
|
NM_000548.5(TSC2):c.5068+13G>A
|
rs1201077508
|
0.00001
|
NM_000548.5(TSC2):c.5068+18C>T
|
rs1036320970
|
0.00001
|
NM_000548.5(TSC2):c.5068+20T>C
|
rs1199000508
|
0.00001
|
NM_000548.5(TSC2):c.5068+7C>T
|
rs773821477
|
0.00001
|
NM_000548.5(TSC2):c.5069-11A>G
|
rs562381623
|
0.00001
|
NM_000548.5(TSC2):c.5069-14C>G
|
rs376712566
|
0.00001
|
NM_000548.5(TSC2):c.5069-5C>T
|
rs762149472
|
0.00001
|
NM_000548.5(TSC2):c.5071A>G (p.Met1691Val)
|
rs767809848
|
0.00001
|
NM_000548.5(TSC2):c.5076G>C (p.Glu1692Asp)
|
rs1358186613
|
0.00001
|
NM_000548.5(TSC2):c.5086G>T (p.Asp1696Tyr)
|
rs1555440048
|
0.00001
|
NM_000548.5(TSC2):c.5091C>T (p.Thr1697=)
|
rs111675922
|
0.00001
|
NM_000548.5(TSC2):c.5097G>C (p.Val1699=)
|
rs397515314
|
0.00001
|
NM_000548.5(TSC2):c.5107G>A (p.Val1703Met)
|
rs2091092273
|
0.00001
|
NM_000548.5(TSC2):c.5109G>A (p.Val1703=)
|
rs770413433
|
0.00001
|
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)
|
rs45474691
|
0.00001
|
NM_000548.5(TSC2):c.5115C>T (p.Asp1705=)
|
rs1385591764
|
0.00001
|
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser)
|
rs772439098
|
0.00001
|
NM_000548.5(TSC2):c.5133G>A (p.Val1711=)
|
rs1596457919
|
0.00001
|
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)
|
rs45517394
|
0.00001
|
NM_000548.5(TSC2):c.5137C>T (p.Arg1713Cys)
|
rs759420443
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr)
|
rs758246234
|
0.00001
|
NM_000548.5(TSC2):c.5151G>A (p.Leu1717=)
|
rs1159550965
|
0.00001
|
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)
|
rs201206500
|
0.00001
|
NM_000548.5(TSC2):c.5160+14G>C
|
rs1225889890
|
0.00001
|
NM_000548.5(TSC2):c.5160+16T>C
|
rs745343792
|
0.00001
|
NM_000548.5(TSC2):c.5160+6T>C
|
rs1567130441
|
0.00001
|
NM_000548.5(TSC2):c.5161-12C>G
|
rs1555440351
|
0.00001
|
NM_000548.5(TSC2):c.5161-18C>T
|
rs747362965
|
0.00001
|
NM_000548.5(TSC2):c.5161-19C>G
|
rs778290482
|
0.00001
|
NM_000548.5(TSC2):c.5161-6C>T
|
rs1475029652
|
0.00001
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)
|
rs1373235682
|
0.00001
|
NM_000548.5(TSC2):c.516G>A (p.Leu172=)
|
rs772641112
|
0.00001
|
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=)
|
rs397514955
|
0.00001
|
NM_000548.5(TSC2):c.5190C>T (p.Ser1730=)
|
rs1305025066
|
0.00001
|
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp)
|
rs1555440500
|
0.00001
|
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=)
|
rs910514279
|
0.00001
|
NM_000548.5(TSC2):c.5199C>T (p.Thr1733=)
|
rs778378296
|
0.00001
|
NM_000548.5(TSC2):c.5201A>G (p.Asp1734Gly)
|
rs878854117
|
0.00001
|
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)
|
rs781407050
|
0.00001
|
NM_000548.5(TSC2):c.5205C>T (p.Ile1735=)
|
rs1308899138
|
0.00001
|
NM_000548.5(TSC2):c.5208C>T (p.Tyr1736=)
|
rs45517410
|
0.00001
|
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)
|
rs780112037
|
0.00001
|
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=)
|
rs151298910
|
0.00001
|
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)
|
rs747538587
|
0.00001
|
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)
|
rs140526185
|
0.00001
|
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=)
|
rs772865175
|
0.00001
|
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)
|
rs760413281
|
0.00001
|
NM_000548.5(TSC2):c.5238C>T (p.His1746=)
|
rs1060504084
|
0.00001
|
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp)
|
rs1193817827
|
0.00001
|
NM_000548.5(TSC2):c.5250C>G (p.Leu1750=)
|
rs370353005
|
0.00001
|
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu)
|
rs45517414
|
0.00001
|
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln)
|
rs749487441
|
0.00001
|
NM_000548.5(TSC2):c.5259+15G>A
|
rs373209496
|
0.00001
|
NM_000548.5(TSC2):c.5259+6G>A
|
rs1555440900
|
0.00001
|
NM_000548.5(TSC2):c.5260-13C>T
|
rs1413775764
|
0.00001
|
NM_000548.5(TSC2):c.5260-14G>A
|
rs745529697
|
0.00001
|
NM_000548.5(TSC2):c.5260-20C>T
|
rs2091180250
|
0.00001
|
NM_000548.5(TSC2):c.5283C>T (p.Ser1761=)
|
rs747002312
|
0.00001
|
NM_000548.5(TSC2):c.5288C>G (p.Pro1763Arg)
|
rs781139561
|
0.00001
|
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu)
|
rs781139561
|
0.00001
|
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)
|
rs138831802
|
0.00001
|
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)
|
rs779621136
|
0.00001
|
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)
|
rs1051758
|
0.00001
|
NM_000548.5(TSC2):c.529C>T (p.Leu177Phe)
|
rs867879148
|
0.00001
|
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)
|
rs1555441265
|
0.00001
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly)
|
rs368083145
|
0.00001
|
NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser)
|
rs781226141
|
0.00001
|
NM_000548.5(TSC2):c.532C>T (p.Leu178=)
|
rs1465941679
|
0.00001
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)
|
rs748947919
|
0.00001
|
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
|
rs768237144
|
0.00001
|
NM_000548.5(TSC2):c.533T>C (p.Leu178Pro)
|
rs1266917945
|
0.00001
|
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=)
|
rs747614356
|
0.00001
|
NM_000548.5(TSC2):c.5352C>G (p.Pro1784=)
|
rs1367848310
|
0.00001
|
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg)
|
rs770117004
|
0.00001
|
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys)
|
rs397515221
|
0.00001
|
NM_000548.5(TSC2):c.5370G>C (p.Val1790=)
|
rs762032752
|
0.00001
|
NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys)
|
rs201916931
|
0.00001
|
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)
|
rs1473538868
|
0.00001
|
NM_000548.5(TSC2):c.5379G>A (p.Arg1793=)
|
rs750392366
|
0.00001
|
NM_000548.5(TSC2):c.5381A>G (p.Lys1794Arg)
|
rs756064266
|
0.00001
|
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe)
|
rs45455398
|
0.00001
|
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)
|
rs796053479
|
0.00001
|
NM_000548.5(TSC2):c.5400G>C (p.Val1800=)
|
rs777327091
|
0.00001
|
NM_000548.5(TSC2):c.5401G>A (p.Glu1801Lys)
|
rs1249406161
|
0.00001
|
NM_000548.5(TSC2):c.5406C>T (p.Asp1802=)
|
rs746376375
|
0.00001
|
NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu)
|
rs1060500910
|
0.00001
|
NM_000548.5(TSC2):c.5423G>A (p.Ter1808=)
|
rs762120606
|
0.00001
|
NM_000548.5(TSC2):c.558C>T (p.Phe186=)
|
rs775642056
|
0.00001
|
NM_000548.5(TSC2):c.566G>A (p.Cys189Tyr)
|
rs764218079
|
0.00001
|
NM_000548.5(TSC2):c.573C>T (p.Leu191=)
|
rs397515059
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys)
|
rs45517112
|
0.00001
|
NM_000548.5(TSC2):c.579G>A (p.Glu193=)
|
rs1192379518
|
0.00001
|
NM_000548.5(TSC2):c.595G>C (p.Val199Leu)
|
rs587778733
|
0.00001
|
NM_000548.5(TSC2):c.599+10G>C
|
rs1037449903
|
0.00001
|
NM_000548.5(TSC2):c.600-13G>C
|
rs45517116
|
0.00001
|
NM_000548.5(TSC2):c.600-14G>A
|
rs1229656999
|
0.00001
|
NM_000548.5(TSC2):c.600-18G>A
|
rs199683502
|
0.00001
|
NM_000548.5(TSC2):c.600-20G>C
|
rs1011228500
|
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.629C>T (p.Ala210Val)
|
rs764925296
|
0.00001
|
NM_000548.5(TSC2):c.632C>A (p.Ser211Tyr)
|
rs878854120
|
0.00001
|
NM_000548.5(TSC2):c.635C>T (p.Ser212Phe)
|
rs2085795216
|
0.00001
|
NM_000548.5(TSC2):c.642C>T (p.Asp214=)
|
rs763726222
|
0.00001
|
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)
|
rs1293515155
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000548.5(TSC2):c.648+17C>A
|
rs755431618
|
0.00001
|
NM_000548.5(TSC2):c.648+19C>T
|
rs1196860918
|
0.00001
|
NM_000548.5(TSC2):c.649-18C>T
|
rs771537061
|
0.00001
|
NM_000548.5(TSC2):c.655C>T (p.Leu219=)
|
rs369046625
|
0.00001
|
NM_000548.5(TSC2):c.666G>A (p.Leu222=)
|
rs761351907
|
0.00001
|
NM_000548.5(TSC2):c.679T>G (p.Cys227Gly)
|
rs753197543
|
0.00001
|
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)
|
rs1555498800
|
0.00001
|
NM_000548.5(TSC2):c.691C>T (p.Leu231=)
|
rs1555498820
|
0.00001
|
NM_000548.5(TSC2):c.693G>A (p.Leu231=)
|
rs764417359
|
0.00001
|
NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)
|
rs751846529
|
0.00001
|
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)
|
rs760100924
|
0.00001
|
NM_000548.5(TSC2):c.696G>A (p.Pro232=)
|
rs539797467
|
0.00001
|
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)
|
rs397514957
|
0.00001
|
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)
|
rs768623382
|
0.00001
|
NM_000548.5(TSC2):c.720C>T (p.Ile240=)
|
rs45517123
|
0.00001
|
NM_000548.5(TSC2):c.72G>A (p.Pro24=)
|
rs754121475
|
0.00001
|
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)
|
rs375574283
|
0.00001
|
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)
|
rs774526017
|
0.00001
|
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)
|
rs762104739
|
0.00001
|
NM_000548.5(TSC2):c.744C>T (p.Asn248=)
|
rs767565673
|
0.00001
|
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)
|
rs750649974
|
0.00001
|
NM_000548.5(TSC2):c.756C>G (p.Leu252=)
|
rs1026303888
|
0.00001
|
NM_000548.5(TSC2):c.768C>T (p.Cys256=)
|
rs45517127
|
0.00001
|
NM_000548.5(TSC2):c.774+12G>A
|
rs1299521085
|
0.00001
|
NM_000548.5(TSC2):c.774+15A>T
|
rs747841616
|
0.00001
|
NM_000548.5(TSC2):c.775-12T>C
|
rs753920940
|
0.00001
|
NM_000548.5(TSC2):c.775-14A>G
|
rs969379684
|
0.00001
|
NM_000548.5(TSC2):c.775-16G>A
|
rs1359566041
|
0.00001
|
NM_000548.5(TSC2):c.775-17C>T
|
rs137854299
|
0.00001
|
NM_000548.5(TSC2):c.775-7C>G
|
rs368164133
|
0.00001
|
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)
|
rs45502703
|
0.00001
|
NM_000548.5(TSC2):c.786C>T (p.Asn262=)
|
rs1485087555
|
0.00001
|
NM_000548.5(TSC2):c.789C>T (p.Leu263=)
|
rs1478468856
|
0.00001
|
NM_000548.5(TSC2):c.807C>T (p.Gly269=)
|
rs1297815371
|
0.00001
|
NM_000548.5(TSC2):c.813C>T (p.Ser271=)
|
rs752676212
|
0.00001
|
NM_000548.5(TSC2):c.816C>A (p.Ala272=)
|
rs917246659
|
0.00001
|
NM_000548.5(TSC2):c.817A>G (p.Ile273Val)
|
rs1357428836
|
0.00001
|
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)
|
rs1305592691
|
0.00001
|
NM_000548.5(TSC2):c.822C>T (p.Tyr274=)
|
rs1347972318
|
0.00001
|
NM_000548.5(TSC2):c.827T>C (p.Met276Thr)
|
rs1281538226
|
0.00001
|
NM_000548.5(TSC2):c.837C>T (p.Leu279=)
|
rs746694709
|
0.00001
|
NM_000548.5(TSC2):c.83C>A (p.Pro28His)
|
rs1057522105
|
0.00001
|
NM_000548.5(TSC2):c.848+10G>A
|
rs1405925936
|
0.00001
|
NM_000548.5(TSC2):c.848+12G>A
|
rs1456160330
|
0.00001
|
NM_000548.5(TSC2):c.848+13G>T
|
rs1402619251
|
0.00001
|
NM_000548.5(TSC2):c.848+19G>A
|
rs1044793633
|
0.00001
|
NM_000548.5(TSC2):c.848+20C>T
|
rs1459744028
|
0.00001
|
NM_000548.5(TSC2):c.849-16T>C
|
rs1355739947
|
0.00001
|
NM_000548.5(TSC2):c.849-17C>A
|
rs45517133
|
0.00001
|
NM_000548.5(TSC2):c.849-4T>C
|
rs752614339
|
0.00001
|
NM_000548.5(TSC2):c.849-6T>G
|
rs886038358
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000548.5(TSC2):c.849-9C>T
|
rs1353108408
|
0.00001
|
NM_000548.5(TSC2):c.851C>T (p.Ala284Val)
|
rs1195702502
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)
|
rs780887572
|
0.00001
|
NM_000548.5(TSC2):c.865G>A (p.Ala289Thr)
|
rs750060649
|
0.00001
|
NM_000548.5(TSC2):c.866C>T (p.Ala289Val)
|
rs755631210
|
0.00001
|
NM_000548.5(TSC2):c.867G>A (p.Ala289=)
|
rs375163125
|
0.00001
|
NM_000548.5(TSC2):c.871C>T (p.Leu291=)
|
rs45517137
|
0.00001
|
NM_000548.5(TSC2):c.874C>T (p.Leu292=)
|
rs1031153520
|
0.00001
|
NM_000548.5(TSC2):c.879A>G (p.Arg293=)
|
rs369222477
|
0.00001
|
NM_000548.5(TSC2):c.885C>T (p.Ala295=)
|
rs778296481
|
0.00001
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
0.00001
|
NM_000548.5(TSC2):c.900C>T (p.Gly300=)
|
rs1415187475
|
0.00001
|
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)
|
rs1213252028
|
0.00001
|
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)
|
rs1475672414
|
0.00001
|
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)
|
rs202082319
|
0.00001
|
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)
|
rs751490043
|
0.00001
|
NM_000548.5(TSC2):c.951A>G (p.Thr317=)
|
rs767275578
|
0.00001
|
NM_000548.5(TSC2):c.954T>A (p.Ser318=)
|
rs1328588034
|
0.00001
|
NM_000548.5(TSC2):c.95A>G (p.Glu32Gly)
|
rs1482573368
|
0.00001
|
NM_000548.5(TSC2):c.965C>T (p.Ser322Leu)
|
rs1345813917
|
0.00001
|
NM_000548.5(TSC2):c.976-10C>T
|
rs765990217
|
0.00001
|
NM_000548.5(TSC2):c.976-3C>T
|
rs45517151
|
0.00001
|
NM_000548.5(TSC2):c.976-9G>A
|
rs367613848
|
0.00001
|
NM_000548.5(TSC2):c.978C>G (p.Ala326=)
|
rs1294670888
|
0.00001
|
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)
|
rs370230541
|
0.00001
|
NM_000548.5(TSC2):c.985T>C (p.Cys329Arg)
|
rs2086518199
|
0.00001
|
NM_000548.5(TSC2):c.990G>A (p.Pro330=)
|
rs752141469
|
0.00001
|
NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)
|
rs911600402
|
0.00001
|
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)
|
rs1336741146
|
0.00001
|
NC_000016.10:g.(?_2048587)_(2065635_?)del
|
|
|
NC_000016.10:g.(?_2048596)_(2048773_?)del
|
|
|
NC_000016.10:g.(?_2048596)_(2074415_?)del
|
|
|
NC_000016.10:g.(?_2048610)_(2088616_?)del
|
|
|
NC_000016.10:g.(?_2050390)_(2050496_?)del
|
|
|
NC_000016.10:g.(?_2053322)_(2057459_?)del
|
|
|
NC_000016.10:g.(?_2053342)_(2060813_?)del
|
|
|
NC_000016.10:g.(?_2056176)_(2064447_?)del
|
|
|
NC_000016.10:g.(?_2056176)_(2074415_?)del
|
|
|
NC_000016.10:g.(?_2058737)_(2088610_?)dup
|
|
|
NC_000016.10:g.(?_2070436)_(2080397_?)dup
|
|
|
NC_000016.10:g.(?_2076471)_(2085342_?)del
|
|
|
NC_000016.10:g.(?_2081585)_(2088620_?)dup
|
|
|
NC_000016.10:g.(?_2081589)_(2088616_?)del
|
|
|
NC_000016.10:g.2055492_2070804dup
|
|
|
NC_000016.10:g.2056989_2074645del
|
|
|
NC_000016.10:g.2072241_2072247dup
|
rs2151315345
|
|
NC_000016.10:g.2074199_2088611dup
|
|
|
NC_000016.10:g.2077825_2088543del
|
|
|
NC_000016.9:g.(?_2025180)_2130380del
|
|
|
NC_000016.9:g.(?_2097990)_(2138611_?)del
|
|
|
NC_000016.9:g.(?_2098588)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2098597)_(2103473_?)del
|
|
|
NC_000016.9:g.(?_2098597)_(2108894_?)del
|
|
|
NC_000016.9:g.(?_2098597)_(2130398_?)del
|
|
|
NC_000016.9:g.(?_2098611)_(2110820_?)dup
|
|
|
NC_000016.9:g.(?_2098611)_(2138617_?)dup
|
|
|
NC_000016.9:g.(?_2098617)_(2110824_?)dup
|
|
|
NC_000016.9:g.(?_2098645)_(2130379_2131595)del
|
|
|
NC_000016.9:g.(?_2100381)_(2100507_?)del
|
|
|
NC_000016.9:g.(?_2100381)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2103323)_(2115656_?)del
|
|
|
NC_000016.9:g.(?_2103323)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2103337)_(2110820_?)del
|
|
|
NC_000016.9:g.(?_2105383)_(2124410_?)del
|
|
|
NC_000016.9:g.(?_2106344)_(2107114_?)del
|
|
|
NC_000016.9:g.(?_2106625)_(2126191_?)dup
|
|
|
NC_000016.9:g.(?_2108728)_(2108894_?)del
|
|
|
NC_000016.9:g.(?_2108728)_(2120599_?)del
|
|
|
NC_000016.9:g.(?_2108738)_(2138621_?)dup
|
|
|
NC_000016.9:g.(?_2108742)_(2138617_?)dup
|
|
|
NC_000016.9:g.(?_2110149)_(2112548_?)del
|
|
|
NC_000016.9:g.(?_2110651)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2110651)_(2135343_?)dup
|
|
|
NC_000016.9:g.(?_2110665)_(2113060_?)del
|
|
|
NC_000016.9:g.(?_2112478)_(2115656_?)del
|
|
|
NC_000016.9:g.(?_2112953)_(2113074_?)del
|
|
|
NC_000016.9:g.(?_2114253)_(2138611_?)dup
|
|
|
NC_000016.9:g.(?_2115500)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2115510)_(2115646_?)del
|
|
|
NC_000016.9:g.(?_2120437)_(2123004_?)del
|
|
|
NC_000016.9:g.(?_2122222)_(2127477_?)del
|
|
|
NC_000016.9:g.(?_2124181)_(2135047_?)dup
|
|
|
NC_000016.9:g.(?_2124181)_(2138611_?)del
|
|
|
NC_000016.9:g.(?_2125790)_(2132515_?)dup
|
|
|
NC_000016.9:g.(?_2127477)_(2135343_?)del
|
|
|
NC_000016.9:g.(?_2127829)_(2134379_?)del
|
|
|
NC_000016.9:g.(?_2129819)_(2134377_?)del
|
|
|
NC_000016.9:g.(?_2130391)_(2132328_?)del
|
|
|
NC_000016.9:g.(?_2131020)_(2133730_?)del
|
|
|
NC_000016.9:g.(?_2133686)_(2138611_?)del
|
|
|
NC_000016.9:g.(?_2134223)_(2136878_?)del
|
|
|
NC_000016.9:g.(?_2134307)_(2137196_?)del
|
|
|
NC_000016.9:g.(?_2135165)_(2138160_?)del
|
|
|
NC_000016.9:g.(?_2137518)_(2138586_?)del
|
|
|
NM_000548.3(TSC2):c.1600-?_1716+?del
|
|
|
NM_000548.3(TSC2):c.1948delG
|
rs1596343922
|
|
NM_000548.3(TSC2):c.4572_4577dupACAGTC
|
|
|
NM_000548.3(TSC2):c.5068+27_5069-47dup34
|
|
|
NM_000548.5(TSC2):c.-29-7T>G
|
|
|
NM_000548.5(TSC2):c.1000G>A (p.Val334Met)
|
rs2086521360
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1002G>A (p.Val334=)
|
|
|
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)
|
rs45517144
|
|
NM_000548.5(TSC2):c.1005C>T (p.Ser335=)
|
rs397514924
|
|
NM_000548.5(TSC2):c.1006T>C (p.Tyr336His)
|
rs2086522579
|
|
NM_000548.5(TSC2):c.1007A>T (p.Tyr336Phe)
|
rs780378198
|
|
NM_000548.5(TSC2):c.100A>G (p.Lys34Glu)
|
rs2084680573
|
|
NM_000548.5(TSC2):c.1010A>T (p.Glu337Val)
|
rs1596298246
|
|
NM_000548.5(TSC2):c.1011G>C (p.Glu337Asp)
|
|
|
NM_000548.5(TSC2):c.1014C>G (p.Ile338Met)
|
rs1250621196
|
|
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)
|
rs1250621196
|
|
NM_000548.5(TSC2):c.1015G>C (p.Val339Leu)
|
rs559727962
|
|
NM_000548.5(TSC2):c.1018C>G (p.Leu340Val)
|
|
|
NM_000548.5(TSC2):c.1018C>T (p.Leu340=)
|
rs2151135855
|
|
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)
|
rs397515192
|
|
NM_000548.5(TSC2):c.101A>G (p.Lys34Arg)
|
rs777988634
|
|
NM_000548.5(TSC2):c.1020G>T (p.Leu340=)
|
|
|
NM_000548.5(TSC2):c.1022C>T (p.Ser341Phe)
|
rs2086524884
|
|
NM_000548.5(TSC2):c.1023C>T (p.Ser341=)
|
rs2086525075
|
|
NM_000548.5(TSC2):c.1025_1027del (p.Ile342del)
|
rs2086525255
|
|
NM_000548.5(TSC2):c.1029C>T (p.Thr343=)
|
rs45468201
|
|
NM_000548.5(TSC2):c.1031G>A (p.Arg344Lys)
|
|
|
NM_000548.5(TSC2):c.1032G>A (p.Arg344=)
|
rs1057524033
|
|
NM_000548.5(TSC2):c.1035C>T (p.Leu345=)
|
rs1476429068
|
|
NM_000548.5(TSC2):c.1036A>G (p.Ile346Val)
|
rs768760795
|
|
NM_000548.5(TSC2):c.1036A>T (p.Ile346Phe)
|
rs768760795
|
|
NM_000548.5(TSC2):c.1037T>A (p.Ile346Asn)
|
|
|
NM_000548.5(TSC2):c.1038C>G (p.Ile346Met)
|
rs2086528091
|
|
NM_000548.5(TSC2):c.1038C>T (p.Ile346=)
|
rs2086528091
|
|
NM_000548.5(TSC2):c.1044G>A (p.Lys348=)
|
rs2086529149
|
|
NM_000548.5(TSC2):c.1045T>C (p.Tyr349His)
|
rs2086529367
|
|
NM_000548.5(TSC2):c.1045_1083del (p.Tyr349_Leu361del)
|
|
|
NM_000548.5(TSC2):c.1046A>T (p.Tyr349Phe)
|
rs1060500916
|
|
NM_000548.5(TSC2):c.1047T>C (p.Tyr349=)
|
rs1042628888
|
|
NM_000548.5(TSC2):c.1047dup (p.Arg350Ter)
|
rs1555500535
|
|
NM_000548.5(TSC2):c.1048A>T (p.Arg350Trp)
|
rs2086530276
|
|
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)
|
rs1567423240
|
|
NM_000548.5(TSC2):c.104_108dup (p.Glu37fs)
|
|
|
NM_000548.5(TSC2):c.1050G>A (p.Arg350=)
|
rs1371264521
|
|
NM_000548.5(TSC2):c.1051A>G (p.Lys351Glu)
|
rs2086530884
|
|
NM_000548.5(TSC2):c.1051_1052insGGCCGGGCGCGGTGGCTCGCGCCTGTAGTCCCAGCTCTTAGGGAGGCCGAGGCAGGAGGATCTAGAGTACAGGAGAACCGGAGCATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTATAGGA (p.Lys351delinsArgProGlyAlaValAlaArgAlaCysSerProSerSerTer)
|
|
|
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg)
|
rs748109163
|
|
NM_000548.5(TSC2):c.1053G>A (p.Lys351=)
|
rs2151137077
|
|
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)
|
rs1596298442
|
|
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1057C>T (p.Leu353Phe)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1058T>C (p.Leu353Pro)
|
rs2151137215
|
|
NM_000548.5(TSC2):c.1059C>A (p.Leu353=)
|
rs796053472
|
|
NM_000548.5(TSC2):c.105G>A (p.Gln35=)
|
rs2150972829
|
|
NM_000548.5(TSC2):c.105_106del (p.Gln35fs)
|
rs2084681207
|
|
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)
|
rs45469896
|
|
NM_000548.5(TSC2):c.1061A>G (p.Gln354Arg)
|
|
|
NM_000548.5(TSC2):c.1061A>T (p.Gln354Leu)
|
|
|
NM_000548.5(TSC2):c.1062G>A (p.Gln354=)
|
rs771943476
|
|
NM_000548.5(TSC2):c.1064T>G (p.Val355Gly)
|
|
|
NM_000548.5(TSC2):c.1065G>A (p.Val355=)
|
|
|
NM_000548.5(TSC2):c.1067_1068dup (p.Ala357fs)
|
|
|
NM_000548.5(TSC2):c.1069G>A (p.Ala357Thr)
|
|
|
NM_000548.5(TSC2):c.1070C>A (p.Ala357Glu)
|
rs150195368
|
|
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)
|
rs1229561585
|
|
NM_000548.5(TSC2):c.1074G>C (p.Trp358Cys)
|
|
|
NM_000548.5(TSC2):c.1077C>A (p.Asp359Glu)
|
|
|
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)
|
rs1555500558
|
|
NM_000548.5(TSC2):c.1078A>G (p.Ile360Val)
|
rs1555500560
|
|
NM_000548.5(TSC2):c.107C>T (p.Thr36Met)
|
rs376280172
|
|
NM_000548.5(TSC2):c.107_108insCTGGTAAAC (p.Thr36_Glu37insTrpTer)
|
|
|
NM_000548.5(TSC2):c.1080T>C (p.Ile360=)
|
rs2086534827
|
|
NM_000548.5(TSC2):c.1080T>G (p.Ile360Met)
|
rs2086534827
|
|
NM_000548.5(TSC2):c.1081C>T (p.Leu361=)
|
rs796053483
|
|
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)
|
rs1057524138
|
|
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)
|
rs137854345
|
|
NM_000548.5(TSC2):c.1086G>A (p.Leu362=)
|
rs1416323572
|
|
NM_000548.5(TSC2):c.1086G>C (p.Leu362=)
|
rs1416323572
|
|
NM_000548.5(TSC2):c.1088A>G (p.Asn363Ser)
|
rs1567423658
|
|
NM_000548.5(TSC2):c.1088A>T (p.Asn363Ile)
|
rs1567423658
|
|
NM_000548.5(TSC2):c.1089C>T (p.Asn363=)
|
|
|
NM_000548.5(TSC2):c.1089del (p.Asn363fs)
|
|
|
NM_000548.5(TSC2):c.1090A>G (p.Ile364Val)
|
rs2086536512
|
|
NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs)
|
|
|
NM_000548.5(TSC2):c.1092C>T (p.Ile364=)
|
rs2151138326
|
|
NM_000548.5(TSC2):c.1095C>G (p.Ile365Met)
|
rs757135168
|
|
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1098_1100del (p.Arg367del)
|
|
|
NM_000548.5(TSC2):c.109G>A (p.Glu37Lys)
|
|
|
NM_000548.5(TSC2):c.109G>T (p.Glu37Ter)
|
|
|
NM_000548.5(TSC2):c.10C>T (p.Pro4Ser)
|
|
|
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro)
|
rs1800725
|
|
NM_000548.5(TSC2):c.1100G>T (p.Arg367Leu)
|
rs1800725
|
|
NM_000548.5(TSC2):c.1101G>A (p.Arg367=)
|
rs45517149
|
|
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)
|
rs45517149
|
|
NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe)
|
rs1567423904
|
|
NM_000548.5(TSC2):c.1105C>A (p.Leu369Ile)
|
rs1195544121
|
|
NM_000548.5(TSC2):c.1105C>T (p.Leu369Phe)
|
|
|
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
|
rs1596298721
|
|
NM_000548.5(TSC2):c.1109AGC[1] (p.Gln371del)
|
|
|
NM_000548.5(TSC2):c.110A>T (p.Glu37Val)
|
|
|
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)
|
rs45469099
|
|
NM_000548.5(TSC2):c.1112A>C (p.Gln371Pro)
|
|
|
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg)
|
rs1555500581
|
|
NM_000548.5(TSC2):c.1113G>A (p.Gln371=)
|
|
|
NM_000548.5(TSC2):c.1113G>T (p.Gln371His)
|
|
|
NM_000548.5(TSC2):c.1114C>T (p.Leu372Phe)
|
|
|
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)
|
rs1060500919
|
|
NM_000548.5(TSC2):c.1117C>A (p.Gln373Lys)
|
rs45458694
|
|
NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg)
|
rs397515131
|
|
NM_000548.5(TSC2):c.1119+10G>A
|
|
|
NM_000548.5(TSC2):c.1119+10G>C
|
rs772040527
|
|
NM_000548.5(TSC2):c.1119+11G>C
|
rs1026151983
|
|
NM_000548.5(TSC2):c.1119+11G>T
|
rs1026151983
|
|
NM_000548.5(TSC2):c.1119+129G>T
|
rs1001221917
|
|
NM_000548.5(TSC2):c.1119+12G>A
|
|
|
NM_000548.5(TSC2):c.1119+12dup
|
rs750078037
|
|
NM_000548.5(TSC2):c.1119+13C>T
|
|
|
NM_000548.5(TSC2):c.1119+14A>G
|
|
|
NM_000548.5(TSC2):c.1119+18G>A
|
|
|
NM_000548.5(TSC2):c.1119+19C>G
|
rs2151140026
|
|
NM_000548.5(TSC2):c.1119+19C>T
|
rs2151140026
|
|
NM_000548.5(TSC2):c.1119+1G>C
|
rs45475793
|
|
NM_000548.5(TSC2):c.1119+20T>C
|
|
|
NM_000548.5(TSC2):c.1119+20_1119+29del
|
rs757984503
|
|
NM_000548.5(TSC2):c.1119+3G>A
|
rs79668097
|
|
NM_000548.5(TSC2):c.1119+3G>C
|
rs79668097
|
|
NM_000548.5(TSC2):c.1119+4G>C
|
|
|
NM_000548.5(TSC2):c.1119+5G>A
|
|
|
NM_000548.5(TSC2):c.1119+5G>C
|
rs2086542949
|
|
NM_000548.5(TSC2):c.1119+5G>T
|
rs2086542949
|
|
NM_000548.5(TSC2):c.1119+6G>A
|
rs397515305
|
|
NM_000548.5(TSC2):c.1119+6G>T
|
rs397515305
|
|
NM_000548.5(TSC2):c.1119+6_1119+28del
|
rs1358834036
|
|
NM_000548.5(TSC2):c.1119+8G>C
|
rs1377444061
|
|
NM_000548.5(TSC2):c.1119+9G>T
|
rs748164142
|
|
NM_000548.5(TSC2):c.1120-10G>A
|
rs2151153517
|
|
NM_000548.5(TSC2):c.1120-11T>C
|
|
|
NM_000548.5(TSC2):c.1120-12C>A
|
|
|
NM_000548.5(TSC2):c.1120-12C>T
|
|
|
NM_000548.5(TSC2):c.1120-15T>C
|
|
|
NM_000548.5(TSC2):c.1120-15T>G
|
|
|
NM_000548.5(TSC2):c.1120-19A>G
|
|
|
NM_000548.5(TSC2):c.1120-19A>T
|
|
|
NM_000548.5(TSC2):c.1120-1del
|
rs2086678681
|
|
NM_000548.5(TSC2):c.1120-20C>T
|
rs2086675709
|
|
NM_000548.5(TSC2):c.1120-4G>A
|
|
|
NM_000548.5(TSC2):c.1120-5T>C
|
rs896351318
|
|
NM_000548.5(TSC2):c.1120-7A>G
|
|
|
NM_000548.5(TSC2):c.1120-9G>A
|
|
|
NM_000548.5(TSC2):c.1120-9G>C
|
rs2151153539
|
|
NM_000548.5(TSC2):c.1120A>G (p.Thr374Ala)
|
|
|
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)
|
rs1440918649
|
|
NM_000548.5(TSC2):c.1121C>T (p.Thr374Ile)
|
|
|
NM_000548.5(TSC2):c.1125G>C (p.Leu375Phe)
|
|
|
NM_000548.5(TSC2):c.1126G>A (p.Asp376Asn)
|
rs1060500976
|
|
NM_000548.5(TSC2):c.1128C>G (p.Asp376Glu)
|
|
|
NM_000548.5(TSC2):c.1128C>T (p.Asp376=)
|
rs1183791367
|
|
NM_000548.5(TSC2):c.1130G>A (p.Ser377Asn)
|
rs2086680090
|
|
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)
|
rs201525586
|
|
NM_000548.5(TSC2):c.1132C>G (p.Pro378Ala)
|
rs2151154104
|
|
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)
|
rs45517154
|
|
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)
|
rs2086680808
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)
|
rs1057519260
|
|
NM_000548.5(TSC2):c.1138C>G (p.Leu380Val)
|
|
|
NM_000548.5(TSC2):c.1138C>T (p.Leu380Phe)
|
rs2151154287
|
|
NM_000548.5(TSC2):c.113T>A (p.Phe38Tyr)
|
rs745604417
|
|
NM_000548.5(TSC2):c.113T>C (p.Phe38Ser)
|
rs745604417
|
|
NM_000548.5(TSC2):c.1141A>G (p.Arg381Gly)
|
rs759952396
|
|
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys)
|
rs45465395
|
|
NM_000548.5(TSC2):c.1144A>T (p.Thr382Ser)
|
rs2086683040
|
|
NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs)
|
rs1567428094
|
|
NM_000548.5(TSC2):c.1146C>T (p.Thr382=)
|
rs887128869
|
|
NM_000548.5(TSC2):c.1147A>G (p.Ile383Val)
|
|
|
NM_000548.5(TSC2):c.1149C>G (p.Ile383Met)
|
rs764246333
|
|
NM_000548.5(TSC2):c.1149C>T (p.Ile383=)
|
rs764246333
|
|
NM_000548.5(TSC2):c.1149del (p.Ile383fs)
|
|
|
NM_000548.5(TSC2):c.114T>C (p.Phe38=)
|
rs1060504110
|
|
NM_000548.5(TSC2):c.114_115insC (p.Ile39fs)
|
rs2084683129
|
|
NM_000548.5(TSC2):c.1153C>G (p.His385Asp)
|
rs1410290642
|
|
NM_000548.5(TSC2):c.1155T>C (p.His385=)
|
rs2151154815
|
|
NM_000548.5(TSC2):c.1157A>G (p.Asp386Gly)
|
|
|
NM_000548.5(TSC2):c.1158C>A (p.Asp386Glu)
|
|
|
NM_000548.5(TSC2):c.1158C>T (p.Asp386=)
|
rs2151154909
|
|
NM_000548.5(TSC2):c.1159C>G (p.Leu387Val)
|
|
|
NM_000548.5(TSC2):c.1159C>T (p.Leu387=)
|
|
|
NM_000548.5(TSC2):c.115A>G (p.Ile39Val)
|
|
|
NM_000548.5(TSC2):c.1160dup (p.Leu388fs)
|
rs878854075
|
|
NM_000548.5(TSC2):c.1161G>A (p.Leu387=)
|
rs781336082
|
|
NM_000548.5(TSC2):c.1161G>C (p.Leu387=)
|
rs781336082
|
|
NM_000548.5(TSC2):c.1165A>G (p.Thr389Ala)
|
|
|
NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser)
|
rs2086688013
|
|
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)
|
rs1596303442
|
|
NM_000548.5(TSC2):c.116T>A (p.Ile39Asn)
|
|
|
NM_000548.5(TSC2):c.116TCA[1] (p.Ile40del)
|
rs2150973192
|
|
NM_000548.5(TSC2):c.116_123dup (p.Ala42fs)
|
|
|
NM_000548.5(TSC2):c.1170G>T (p.Thr390=)
|
rs376144933
|
|
NM_000548.5(TSC2):c.1171G>A (p.Val391Met)
|
rs1555501071
|
|
NM_000548.5(TSC2):c.1171G>T (p.Val391Leu)
|
|
|
NM_000548.5(TSC2):c.1172_1174del (p.Val391del)
|
rs1567428371
|
|
NM_000548.5(TSC2):c.1173G>A (p.Val391=)
|
|
|
NM_000548.5(TSC2):c.1176G>T (p.Glu392Asp)
|
|
|
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)
|
rs2086689358
|
|
NM_000548.5(TSC2):c.1179G>A (p.Glu393=)
|
rs2151155465
|
|
NM_000548.5(TSC2):c.117C>A (p.Ile39=)
|
rs2150973249
|
|
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1180C>T (p.Leu394=)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1182G>A (p.Leu394=)
|
rs779951754
|
|
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)
|
rs1026632436
|
|
NM_000548.5(TSC2):c.1186G>C (p.Asp396His)
|
rs1596303501
|
|
NM_000548.5(TSC2):c.1188C>G (p.Asp396Glu)
|
|
|
NM_000548.5(TSC2):c.1189C>T (p.Gln397Ter)
|
|
|
NM_000548.5(TSC2):c.118A>G (p.Ile40Val)
|
rs2084683845
|
|
NM_000548.5(TSC2):c.118A>T (p.Ile40Phe)
|
|
|
NM_000548.5(TSC2):c.1191G>C (p.Gln397His)
|
rs2086690848
|
|
NM_000548.5(TSC2):c.1194C>G (p.Asn398Lys)
|
|
|
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)
|
rs773920155
|
|
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)
|
rs773920155
|
|
NM_000548.5(TSC2):c.119T>C (p.Ile40Thr)
|
rs587781758
|
|
NM_000548.5(TSC2):c.1200C>T (p.Phe400=)
|
|
|
NM_000548.5(TSC2):c.1202A>G (p.His401Arg)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val)
|
rs777172185
|
|
NM_000548.5(TSC2):c.1206G>A (p.Gly402=)
|
rs558873383
|
|
NM_000548.5(TSC2):c.1206G>C (p.Gly402=)
|
|
|
NM_000548.5(TSC2):c.1208C>G (p.Ser403Cys)
|
rs1555501098
|
|
NM_000548.5(TSC2):c.1208C>T (p.Ser403Phe)
|
rs1555501098
|
|
NM_000548.5(TSC2):c.120del (p.Thr41fs)
|
rs397515085
|
|
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)
|
rs45457701
|
|
NM_000548.5(TSC2):c.1212G>A (p.Gln404=)
|
rs1156766051
|
|
NM_000548.5(TSC2):c.1213G>A (p.Glu405Lys)
|
|
|
NM_000548.5(TSC2):c.1213G>T (p.Glu405Ter)
|
|
|
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)
|
rs1057518321
|
|
NM_000548.5(TSC2):c.1215G>A (p.Glu405=)
|
rs2151156348
|
|
NM_000548.5(TSC2):c.1216A>G (p.Arg406Gly)
|
rs2151156367
|
|
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)
|
rs2086693907
|
|
NM_000548.5(TSC2):c.1217_1218del (p.Arg406fs)
|
rs2151156291
|
|
NM_000548.5(TSC2):c.121A>G (p.Thr41Ala)
|
rs1596234558
|
|
NM_000548.5(TSC2):c.121A>T (p.Thr41Ser)
|
rs1596234558
|
|
NM_000548.5(TSC2):c.1220A>G (p.Tyr407Cys)
|
rs1596303621
|
|
NM_000548.5(TSC2):c.1220A>T (p.Tyr407Phe)
|
rs1596303621
|
|
NM_000548.5(TSC2):c.1223T>G (p.Phe408Cys)
|
rs1555501123
|
|
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)
|
rs137854127
|
|
NM_000548.5(TSC2):c.1228C>G (p.Leu410Val)
|
|
|
NM_000548.5(TSC2):c.1228C>T (p.Leu410=)
|
rs528727637
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.122C>T (p.Thr41Ile)
|
rs1385450866
|
|
NM_000548.5(TSC2):c.1230G>A (p.Leu410=)
|
rs2151156690
|
|
NM_000548.5(TSC2):c.1230G>C (p.Leu410=)
|
rs2151156690
|
|
NM_000548.5(TSC2):c.1231G>A (p.Val411Met)
|
|
|
NM_000548.5(TSC2):c.1231G>T (p.Val411Leu)
|
rs1567428822
|
|
NM_000548.5(TSC2):c.1233G>A (p.Val411=)
|
rs2086697274
|
|
NM_000548.5(TSC2):c.1234G>C (p.Glu412Gln)
|
rs1596303713
|
|
NM_000548.5(TSC2):c.1235A>G (p.Glu412Gly)
|
rs137854026
|
|
NM_000548.5(TSC2):c.1236G>A (p.Glu412=)
|
rs1596303728
|
|
NM_000548.5(TSC2):c.1237A>G (p.Arg413Gly)
|
rs2151156876
|
|
NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser)
|
rs1596303739
|
|
NM_000548.5(TSC2):c.1240T>A (p.Cys414Ser)
|
rs1057523509
|
|
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)
|
rs1057523509
|
|
NM_000548.5(TSC2):c.1242T>G (p.Cys414Trp)
|
rs2151156989
|
|
NM_000548.5(TSC2):c.1245G>C (p.Ala415=)
|
rs757325185
|
|
NM_000548.5(TSC2):c.1246G>A (p.Asp416Asn)
|
rs45517157
|
|
NM_000548.5(TSC2):c.1247A>C (p.Asp416Ala)
|
rs117111015
|
|
NM_000548.5(TSC2):c.1248C>G (p.Asp416Glu)
|
rs1555501144
|
|
NM_000548.5(TSC2):c.1248C>T (p.Asp416=)
|
rs1555501144
|
|
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)
|
rs45517158
|
|
NM_000548.5(TSC2):c.124G>A (p.Ala42Thr)
|
|
|
NM_000548.5(TSC2):c.1252_1253del (p.Arg418fs)
|
rs2086699971
|
|
NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser)
|
rs767670580
|
|
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)
|
rs45517159
|
|
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)
|
rs1237876686
|
|
NM_000548.5(TSC2):c.1257+10C>G
|
rs756063576
|
|
NM_000548.5(TSC2):c.1257+10C>T
|
rs756063576
|
|
NM_000548.5(TSC2):c.1257+11del
|
|
|
NM_000548.5(TSC2):c.1257+11dup
|
|
|
NM_000548.5(TSC2):c.1257+12del
|
|
|
NM_000548.5(TSC2):c.1257+13C>G
|
rs780010894
|
|
NM_000548.5(TSC2):c.1257+15T>C
|
|
|
NM_000548.5(TSC2):c.1257+16G>A
|
|
|
NM_000548.5(TSC2):c.1257+18G>A
|
rs2151157676
|
|
NM_000548.5(TSC2):c.1257+18G>C
|
|
|
NM_000548.5(TSC2):c.1257+1G>A
|
rs397515066
|
|
NM_000548.5(TSC2):c.1257+1G>C
|
rs397515066
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
NM_000548.5(TSC2):c.1257+2_1257+3del
|
rs1596303814
|
|
NM_000548.5(TSC2):c.1257+5G>A
|
rs2151157428
|
|
NM_000548.5(TSC2):c.1257+6A>G
|
rs2151157450
|
|
NM_000548.5(TSC2):c.1257+7C>T
|
rs1596303823
|
|
NM_000548.5(TSC2):c.1257+8C>G
|
rs767392684
|
|
NM_000548.5(TSC2):c.1257+8C>T
|
|
|
NM_000548.5(TSC2):c.1257+9C>A
|
rs1166139497
|
|
NM_000548.5(TSC2):c.1257+9C>G
|
|
|
NM_000548.5(TSC2):c.1257dup (p.Glu420Ter)
|
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
NM_000548.5(TSC2):c.1258-10C>T
|
rs794727093
|
|
NM_000548.5(TSC2):c.1258-10_1258-8del
|
rs767749967
|
|
NM_000548.5(TSC2):c.1258-13C>T
|
|
|
NM_000548.5(TSC2):c.1258-15C>T
|
rs2151162848
|
|
NM_000548.5(TSC2):c.1258-17G>C
|
|
|
NM_000548.5(TSC2):c.1258-18C>G
|
|
|
NM_000548.5(TSC2):c.1258-20A>G
|
rs2151162687
|
|
NM_000548.5(TSC2):c.1258-2A>G
|
rs45517160
|
|
NM_000548.5(TSC2):c.1258-3C>A
|
rs45517161
|
|
NM_000548.5(TSC2):c.1258-3C>G
|
rs45517161
|
|
NM_000548.5(TSC2):c.1258-3C>T
|
|
|
NM_000548.5(TSC2):c.1258-4A>G
|
rs2086763634
|
|
NM_000548.5(TSC2):c.1258-4A>T
|
|
|
NM_000548.5(TSC2):c.1258-5G>A
|
rs925954967
|
|
NM_000548.5(TSC2):c.1258-7T>C
|
|
|
NM_000548.5(TSC2):c.1258-8T>G
|
rs1175574879
|
|
NM_000548.5(TSC2):c.1258-8_1258-6del
|
rs2151162953
|
|
NM_000548.5(TSC2):c.1258-96_1362del
|
rs2151161634
|
|
NM_000548.5(TSC2):c.1258G>A (p.Glu420Lys)
|
rs796053484
|
|
NM_000548.5(TSC2):c.1258G>C (p.Glu420Gln)
|
|
|
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)
|
rs796053484
|
|
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
|
|
|
NM_000548.5(TSC2):c.125C>T (p.Ala42Val)
|
rs199562226
|
|
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)
|
rs876658585
|
|
NM_000548.5(TSC2):c.1261T>A (p.Ser421Thr)
|
rs2086765786
|
|
NM_000548.5(TSC2):c.1261T>C (p.Ser421Pro)
|
|
|
NM_000548.5(TSC2):c.1262C>T (p.Ser421Phe)
|
rs2151163260
|
|
NM_000548.5(TSC2):c.1263C>G (p.Ser421=)
|
|
|
NM_000548.5(TSC2):c.1263C>T (p.Ser421=)
|
|
|
NM_000548.5(TSC2):c.1265C>T (p.Ser422Phe)
|
rs2151163315
|
|
NM_000548.5(TSC2):c.1266C>T (p.Ser422=)
|
|
|
NM_000548.5(TSC2):c.1267C>A (p.Leu423Ile)
|
rs746586340
|
|
NM_000548.5(TSC2):c.1267C>T (p.Leu423Phe)
|
rs746586340
|
|
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)
|
rs2086765953
|
|
NM_000548.5(TSC2):c.1268T>C (p.Leu423Pro)
|
|
|
NM_000548.5(TSC2):c.1269C>A (p.Leu423=)
|
|
|
NM_000548.5(TSC2):c.126G>A (p.Ala42=)
|
rs886043548
|
|
NM_000548.5(TSC2):c.126G>C (p.Ala42=)
|
rs886043548
|
|
NM_000548.5(TSC2):c.1271T>C (p.Leu424Pro)
|
|
|
NM_000548.5(TSC2):c.1271T>G (p.Leu424Arg)
|
rs1468287623
|
|
NM_000548.5(TSC2):c.1274A>G (p.Asn425Ser)
|
|
|
NM_000548.5(TSC2):c.1275C>A (p.Asn425Lys)
|
rs878854076
|
|
NM_000548.5(TSC2):c.1275C>T (p.Asn425=)
|
rs878854076
|
|
NM_000548.5(TSC2):c.1276C>G (p.Leu426Val)
|
rs45478593
|
|
NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer)
|
rs2086767947
|
|
NM_000548.5(TSC2):c.1278G>A (p.Leu426=)
|
rs749771063
|
|
NM_000548.5(TSC2):c.1279A>G (p.Ile427Val)
|
rs1202399787
|
|
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)
|
rs2084685904
|
|
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1281C>T (p.Ile427=)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1282del (p.Ser428fs)
|
rs1555501373
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.1284C>G (p.Ser428=)
|
rs1325874616
|
|
NM_000548.5(TSC2):c.1285T>A (p.Tyr429Asn)
|
rs2151163734
|
|
NM_000548.5(TSC2):c.1285T>C (p.Tyr429His)
|
|
|
NM_000548.5(TSC2):c.1286A>G (p.Tyr429Cys)
|
rs774727624
|
|
NM_000548.5(TSC2):c.1286A>T (p.Tyr429Phe)
|
|
|
NM_000548.5(TSC2):c.1287T>C (p.Tyr429=)
|
|
|
NM_000548.5(TSC2):c.1288A>G (p.Arg430Gly)
|
|
|
NM_000548.5(TSC2):c.1289G>C (p.Arg430Thr)
|
rs2086770532
|
|
NM_000548.5(TSC2):c.1291G>C (p.Ala431Pro)
|
rs2086770794
|
|
NM_000548.5(TSC2):c.1293G>T (p.Ala431=)
|
rs45517162
|
|
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter)
|
rs1114167462
|
|
NM_000548.5(TSC2):c.1297T>G (p.Ser433Ala)
|
rs1335355737
|
|
NM_000548.5(TSC2):c.1298C>A (p.Ser433Tyr)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1299C>T (p.Ser433=)
|
rs993220492
|
|
NM_000548.5(TSC2):c.129A>G (p.Glu43=)
|
rs1295533489
|
|
NM_000548.5(TSC2):c.12A>G (p.Pro4=)
|
|
|
NM_000548.5(TSC2):c.1303C>A (p.His435Asn)
|
rs760896048
|
|
NM_000548.5(TSC2):c.1304A>C (p.His435Pro)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1304A>G (p.His435Arg)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1304A>T (p.His435Leu)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1304_1306del (p.His435del)
|
rs1596305698
|
|
NM_000548.5(TSC2):c.1305C>T (p.His435=)
|
rs766461065
|
|
NM_000548.5(TSC2):c.1306C>A (p.Pro436Thr)
|
rs1489429320
|
|
NM_000548.5(TSC2):c.1306C>G (p.Pro436Ala)
|
rs1489429320
|
|
NM_000548.5(TSC2):c.1306C>T (p.Pro436Ser)
|
|
|
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1307C>G (p.Pro436Arg)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1308G>C (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.1308G>T (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.130A>G (p.Ile44Val)
|
rs1555494697
|
|
NM_000548.5(TSC2):c.1311C>A (p.Ala437=)
|
rs752435039
|
|
NM_000548.5(TSC2):c.1311C>G (p.Ala437=)
|
|
|
NM_000548.5(TSC2):c.1311C>T (p.Ala437=)
|
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.1320C>A (p.Gly440=)
|
rs983982198
|
|
NM_000548.5(TSC2):c.1320C>G (p.Gly440=)
|
rs983982198
|
|
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)
|
rs45515894
|
|
NM_000548.5(TSC2):c.1325T>G (p.Ile442Ser)
|
rs879255344
|
|
NM_000548.5(TSC2):c.1326T>G (p.Ile442Met)
|
rs2086776250
|
|
NM_000548.5(TSC2):c.1327C>G (p.Gln443Glu)
|
|
|
NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter)
|
rs2151164702
|
|
NM_000548.5(TSC2):c.1329G>A (p.Gln443=)
|
rs1459924996
|
|
NM_000548.5(TSC2):c.1329G>C (p.Gln443His)
|
rs1459924996
|
|
NM_000548.5(TSC2):c.132A>G (p.Ile44Met)
|
rs796053508
|
|
NM_000548.5(TSC2):c.1330A>C (p.Asn444His)
|
rs2151164750
|
|
NM_000548.5(TSC2):c.1332C>A (p.Asn444Lys)
|
|
|
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys)
|
rs535984356
|
|
NM_000548.5(TSC2):c.1334dup (p.Gln446fs)
|
rs2086777094
|
|
NM_000548.5(TSC2):c.1335G>T (p.Leu445=)
|
rs2151164864
|
|
NM_000548.5(TSC2):c.1337A>G (p.Gln446Arg)
|
|
|
NM_000548.5(TSC2):c.1337dup (p.Ala447fs)
|
rs2039161082
|
|
NM_000548.5(TSC2):c.1338G>A (p.Gln446=)
|
rs2151165007
|
|
NM_000548.5(TSC2):c.133C>G (p.Leu45Val)
|
rs1555494707
|
|
NM_000548.5(TSC2):c.133C>T (p.Leu45=)
|
rs1555494707
|
|
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)
|
rs137854360
|
|
NM_000548.5(TSC2):c.1340C>A (p.Ala447Glu)
|
|
|
NM_000548.5(TSC2):c.1340C>G (p.Ala447Gly)
|
rs45486591
|
|
NM_000548.5(TSC2):c.1341G>T (p.Ala447=)
|
rs141609319
|
|
NM_000548.5(TSC2):c.1342C>T (p.Leu448=)
|
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1345A>T (p.Met449Leu)
|
rs1555501441
|
|
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.1346T>C (p.Met449Thr)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.1346T>G (p.Met449Arg)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.1347G>A (p.Met449Ile)
|
rs45443091
|
|
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)
|
rs45491095
|
|
NM_000548.5(TSC2):c.134T>C (p.Leu45Pro)
|
rs1383831944
|
|
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs)
|
rs397515082
|
|
NM_000548.5(TSC2):c.1353A>G (p.Arg451=)
|
rs1555501456
|
|
NM_000548.5(TSC2):c.1354T>A (p.Phe452Ile)
|
|
|
NM_000548.5(TSC2):c.1355T>A (p.Phe452Tyr)
|
|
|
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1356C>G (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1358_1359delinsAA (p.Phe453Ter)
|
rs2151165414
|
|
NM_000548.5(TSC2):c.1358_1361+14del
|
|
|
NM_000548.5(TSC2):c.1359C>T (p.Phe453=)
|
rs2151165435
|
|
NM_000548.5(TSC2):c.135G>A (p.Leu45=)
|
|
|
NM_000548.5(TSC2):c.135G>C (p.Leu45=)
|
rs1555494715
|
|
NM_000548.5(TSC2):c.135G>T (p.Leu45=)
|
rs1555494715
|
|
NM_000548.5(TSC2):c.1360A>G (p.Arg454Gly)
|
rs2086780236
|
|
NM_000548.5(TSC2):c.1361+10C>T
|
rs1023095335
|
|
NM_000548.5(TSC2):c.1361+11C>T
|
|
|
NM_000548.5(TSC2):c.1361+14T>A
|
|
|
NM_000548.5(TSC2):c.1361+15G>A
|
rs1252164517
|
|
NM_000548.5(TSC2):c.1361+18G>A
|
|
|
NM_000548.5(TSC2):c.1361+18G>T
|
rs140223009
|
|
NM_000548.5(TSC2):c.1361+19C>T
|
|
|
NM_000548.5(TSC2):c.1361+1G>T
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+20C>T
|
|
|
NM_000548.5(TSC2):c.1361+2T>C
|
rs397515301
|
|
NM_000548.5(TSC2):c.1361+3A>G
|
rs1567431655
|
|
NM_000548.5(TSC2):c.1361+4G>A
|
rs2086781300
|
|
NM_000548.5(TSC2):c.1361+5G>A
|
rs2086781791
|
|
NM_000548.5(TSC2):c.1361+5G>T
|
|
|
NM_000548.5(TSC2):c.1361+6G>A
|
rs1596305980
|
|
NM_000548.5(TSC2):c.1361+8G>A
|
rs1596306003
|
|
NM_000548.5(TSC2):c.1361+8G>T
|
rs1596306003
|
|
NM_000548.5(TSC2):c.1361+8del
|
rs746102053
|
|
NM_000548.5(TSC2):c.1361+8dup
|
rs746102053
|
|
NM_000548.5(TSC2):c.1361+9T>C
|
rs1041094432
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-10C>G
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-12G>A
|
|
|
NM_000548.5(TSC2):c.1362-13T>C
|
rs2151170217
|
|
NM_000548.5(TSC2):c.1362-15G>T
|
|
|
NM_000548.5(TSC2):c.1362-16G>A
|
rs1174276562
|
|
NM_000548.5(TSC2):c.1362-17A>C
|
|
|
NM_000548.5(TSC2):c.1362-17A>G
|
|
|
NM_000548.5(TSC2):c.1362-18C>T
|
|
|
NM_000548.5(TSC2):c.1362-1G>A
|
|
|
NM_000548.5(TSC2):c.1362-20A>G
|
|
|
NM_000548.5(TSC2):c.1362-2A>G
|
rs45517165
|
|
NM_000548.5(TSC2):c.1362-3C>G
|
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362-4G>T
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362-5C>G
|
rs372424945
|
|
NM_000548.5(TSC2):c.1362-5del
|
rs2086819893
|
|
NM_000548.5(TSC2):c.1362-6C>A
|
rs2086820146
|
|
NM_000548.5(TSC2):c.1362-6C>T
|
rs2086820146
|
|
NM_000548.5(TSC2):c.1362-7C>A
|
rs1555501647
|
|
NM_000548.5(TSC2):c.1362-7C>G
|
rs1555501647
|
|
NM_000548.5(TSC2):c.1362-7C>T
|
rs1555501647
|
|
NM_000548.5(TSC2):c.1362-8T>C
|
rs2151170386
|
|
NM_000548.5(TSC2):c.1362-9G>T
|
|
|
NM_000548.5(TSC2):c.1362-9_1362-6dup
|
rs2151170297
|
|
NM_000548.5(TSC2):c.1362G>A (p.Arg454=)
|
|
|
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser)
|
rs374252944
|
|
NM_000548.5(TSC2):c.1363A>G (p.Ser455Gly)
|
|
|
NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn)
|
rs1567432782
|
|
NM_000548.5(TSC2):c.1366G>C (p.Glu456Gln)
|
|
|
NM_000548.5(TSC2):c.1368G>C (p.Glu456Asp)
|
rs2151170835
|
|
NM_000548.5(TSC2):c.1369T>A (p.Ser457Thr)
|
rs2151170866
|
|
NM_000548.5(TSC2):c.1369T>C (p.Ser457Pro)
|
|
|
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)
|
rs137854266
|
|
NM_000548.5(TSC2):c.136_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)
|
rs1278503244
|
|
NM_000548.5(TSC2):c.1370C>T (p.Ser457Phe)
|
rs1278503244
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.1375G>A (p.Gly459Ser)
|
|
|
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)
|
rs1567432890
|
|
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp)
|
rs886051788
|
|
NM_000548.5(TSC2):c.1377C>A (p.Gly459=)
|
rs45517170
|
|
NM_000548.5(TSC2):c.1377C>G (p.Gly459=)
|
rs45517170
|
|
NM_000548.5(TSC2):c.1378G>C (p.Ala460Pro)
|
|
|
NM_000548.5(TSC2):c.138+10C>G
|
rs748932830
|
|
NM_000548.5(TSC2):c.138+10C>T
|
|
|
NM_000548.5(TSC2):c.138+13C>T
|
rs2084692975
|
|
NM_000548.5(TSC2):c.138+14C>G
|
rs201204330
|
|
NM_000548.5(TSC2):c.138+14C>T
|
rs201204330
|
|
NM_000548.5(TSC2):c.138+16G>A
|
rs1555494744
|
|
NM_000548.5(TSC2):c.138+17T>A
|
|
|
NM_000548.5(TSC2):c.138+19T>C
|
rs1185810797
|
|
NM_000548.5(TSC2):c.138+19T>G
|
rs1185810797
|
|
NM_000548.5(TSC2):c.138+20C>T
|
rs45517092
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.138+5G>C
|
rs45481400
|
|
NM_000548.5(TSC2):c.138+6_138+9del
|
rs2084688881
|
|
NM_000548.5(TSC2):c.138+7G>A
|
rs1596234900
|
|
NM_000548.5(TSC2):c.1380C>A (p.Ala460=)
|
rs1060504113
|
|
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)
|
rs796053486
|
|
NM_000548.5(TSC2):c.1381G>C (p.Val461Leu)
|
rs796053486
|
|
NM_000548.5(TSC2):c.1381del (p.Val461fs)
|
|
|
NM_000548.5(TSC2):c.1382T>C (p.Val461Ala)
|
rs2086823656
|
|
NM_000548.5(TSC2):c.1383G>A (p.Val461=)
|
rs760393399
|
|
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly)
|
rs397515261
|
|
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.1385G>C (p.Arg462Pro)
|
|
|
NM_000548.5(TSC2):c.1385_1396del (p.Arg462_Val465del)
|
|
|
NM_000548.5(TSC2):c.1388T>A (p.Ile463Asn)
|
rs1060500940
|
|
NM_000548.5(TSC2):c.1388T>G (p.Ile463Ser)
|
rs1060500940
|
|
NM_000548.5(TSC2):c.1388dup (p.Lys464fs)
|
rs2086826069
|
|
NM_000548.5(TSC2):c.1389C>A (p.Ile463=)
|
rs1188230416
|
|
NM_000548.5(TSC2):c.138_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.139-10C>T
|
rs996641937
|
|
NM_000548.5(TSC2):c.139-11TC[3]
|
|
|
NM_000548.5(TSC2):c.139-13C>A
|
|
|
NM_000548.5(TSC2):c.139-13C>T
|
|
|
NM_000548.5(TSC2):c.139-14T>G
|
rs1366210687
|
|
NM_000548.5(TSC2):c.139-15T>A
|
rs563094714
|
|
NM_000548.5(TSC2):c.139-16T>C
|
|
|
NM_000548.5(TSC2):c.139-17C>G
|
|
|
NM_000548.5(TSC2):c.139-17C>T
|
rs748987903
|
|
NM_000548.5(TSC2):c.139-17_139-15del
|
rs750270314
|
|
NM_000548.5(TSC2):c.139-1G>A
|
rs1567386603
|
|
NM_000548.5(TSC2):c.139-20C>A
|
|
|
NM_000548.5(TSC2):c.139-20C>T
|
|
|
NM_000548.5(TSC2):c.139-2A>G
|
rs2084954667
|
|
NM_000548.5(TSC2):c.139-4C>G
|
rs747561824
|
|
NM_000548.5(TSC2):c.139-4C>T
|
rs747561824
|
|
NM_000548.5(TSC2):c.139-5T>G
|
|
|
NM_000548.5(TSC2):c.139-6C>G
|
rs778516569
|
|
NM_000548.5(TSC2):c.139-8C>G
|
rs1382083945
|
|
NM_000548.5(TSC2):c.139-9_139-8delinsCT
|
rs2150994742
|
|
NM_000548.5(TSC2):c.1390A>C (p.Lys464Gln)
|
rs1555501694
|
|
NM_000548.5(TSC2):c.1390A>G (p.Lys464Glu)
|
rs1555501694
|
|
NM_000548.5(TSC2):c.1391A>C (p.Lys464Thr)
|
|
|
NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)
|
rs1033108057
|
|
NM_000548.5(TSC2):c.1392G>A (p.Lys464=)
|
|
|
NM_000548.5(TSC2):c.1392G>C (p.Lys464Asn)
|
|
|
NM_000548.5(TSC2):c.1395G>A (p.Val465=)
|
rs2151171914
|
|
NM_000548.5(TSC2):c.1396C>T (p.Leu466=)
|
|
|
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)
|
rs45481199
|
|
NM_000548.5(TSC2):c.1399dup (p.Asp467fs)
|
|
|
NM_000548.5(TSC2):c.13del (p.Thr5fs)
|
rs2084669441
|
|
NM_000548.5(TSC2):c.1400A>G (p.Asp467Gly)
|
rs1060500977
|
|
NM_000548.5(TSC2):c.1402G>A (p.Val468Met)
|
rs1158055650
|
|
NM_000548.5(TSC2):c.1404G>C (p.Val468=)
|
rs778247396
|
|
NM_000548.5(TSC2):c.1405C>T (p.Leu469=)
|
rs1596307389
|
|
NM_000548.5(TSC2):c.1406T>C (p.Leu469Pro)
|
|
|
NM_000548.5(TSC2):c.1410C>T (p.Ser470=)
|
rs2151172357
|
|
NM_000548.5(TSC2):c.1411T>C (p.Phe471Leu)
|
|
|
NM_000548.5(TSC2):c.1415T>G (p.Val472Gly)
|
rs2151172463
|
|
NM_000548.5(TSC2):c.1416G>A (p.Val472=)
|
rs1596307406
|
|
NM_000548.5(TSC2):c.1417C>G (p.Leu473Val)
|
rs1321215329
|
|
NM_000548.5(TSC2):c.1417C>T (p.Leu473=)
|
rs1321215329
|
|
NM_000548.5(TSC2):c.1418T>A (p.Leu473Gln)
|
rs2086830486
|
|
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
|
|
|
NM_000548.5(TSC2):c.141A>G (p.Glu47=)
|
rs137854133
|
|
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp)
|
rs137854133
|
|
NM_000548.5(TSC2):c.1422C>T (p.Leu474=)
|
rs565646854
|
|
NM_000548.5(TSC2):c.1425C>T (p.Ile475=)
|
rs1596307430
|
|
NM_000548.5(TSC2):c.1426A>C (p.Asn476His)
|
|
|
NM_000548.5(TSC2):c.1427A>C (p.Asn476Thr)
|
rs2086831741
|
|
NM_000548.5(TSC2):c.1428C>T (p.Asn476=)
|
rs2151172933
|
|
NM_000548.5(TSC2):c.1429A>G (p.Arg477Gly)
|
|
|
NM_000548.5(TSC2):c.142C>G (p.Leu48Val)
|
rs1486839704
|
|
NM_000548.5(TSC2):c.1432C>A (p.Gln478Lys)
|
|
|
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)
|
rs121964862
|
|
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg)
|
rs1555501733
|
|
NM_000548.5(TSC2):c.1433A>T (p.Gln478Leu)
|
|
|
NM_000548.5(TSC2):c.1434G>A (p.Gln478=)
|
rs1555501735
|
|
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu)
|
rs2151173141
|
|
NM_000548.5(TSC2):c.1437C>G (p.Phe479Leu)
|
|
|
NM_000548.5(TSC2):c.1439A>G (p.Tyr480Cys)
|
rs2086832697
|
|
NM_000548.5(TSC2):c.1442A>G (p.Glu481Gly)
|
|
|
NM_000548.5(TSC2):c.1443+10C>T
|
rs1222870951
|
|
NM_000548.5(TSC2):c.1443+11_1443+12delinsTT
|
|
|
NM_000548.5(TSC2):c.1443+14C>A
|
rs753454333
|
|
NM_000548.5(TSC2):c.1443+16G>A
|
|
|
NM_000548.5(TSC2):c.1443+1G>A
|
|
|
NM_000548.5(TSC2):c.1443+1G>T
|
rs397515257
|
|
NM_000548.5(TSC2):c.1443+2T>A
|
rs397515064
|
|
NM_000548.5(TSC2):c.1443+2T>C
|
|
|
NM_000548.5(TSC2):c.1443+3G>A
|
|
|
NM_000548.5(TSC2):c.1443+4C>A
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443+4C>G
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443+5G>A
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1443+5G>C
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1443+8T>A
|
|
|
NM_000548.5(TSC2):c.1443+8T>G
|
|
|
NM_000548.5(TSC2):c.1443+9C>G
|
rs2151173612
|
|
NM_000548.5(TSC2):c.1443G>A (p.Glu481=)
|
rs137854876
|
|
NM_000548.5(TSC2):c.1443G>T (p.Glu481Asp)
|
|
|
NM_000548.5(TSC2):c.1444-12G>A
|
rs566516726
|
|
NM_000548.5(TSC2):c.1444-14T>C
|
rs45517173
|
|
NM_000548.5(TSC2):c.1444-15C>G
|
|
|
NM_000548.5(TSC2):c.1444-15C>T
|
|
|
NM_000548.5(TSC2):c.1444-17C>G
|
|
|
NM_000548.5(TSC2):c.1444-19del
|
|
|
NM_000548.5(TSC2):c.1444-1G>A
|
rs45515902
|
|
NM_000548.5(TSC2):c.1444-20C>T
|
|
|
NM_000548.5(TSC2):c.1444-2A>G
|
rs45517174
|
|
NM_000548.5(TSC2):c.1444-33_1444-18del
|
|
|
NM_000548.5(TSC2):c.1444-3C>A
|
|
|
NM_000548.5(TSC2):c.1444-3C>T
|
rs1484617931
|
|
NM_000548.5(TSC2):c.1444-4G>T
|
|
|
NM_000548.5(TSC2):c.1444-5T>A
|
rs2087005659
|
|
NM_000548.5(TSC2):c.1444-6G>T
|
|
|
NM_000548.5(TSC2):c.1444-7T>C
|
rs2151188110
|
|
NM_000548.5(TSC2):c.1444-8C>T
|
rs749236601
|
|
NM_000548.5(TSC2):c.1444-9C>A
|
|
|
NM_000548.5(TSC2):c.1444G>A (p.Glu482Lys)
|
|
|
NM_000548.5(TSC2):c.1444G>C (p.Glu482Gln)
|
rs1308965961
|
|
NM_000548.5(TSC2):c.1446G>A (p.Glu482=)
|
rs2151188264
|
|
NM_000548.5(TSC2):c.1447G>C (p.Glu483Gln)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1449G>A (p.Glu483=)
|
rs768511587
|
|
NM_000548.5(TSC2):c.1449G>C (p.Glu483Asp)
|
|
|
NM_000548.5(TSC2):c.1452G>A (p.Leu484=)
|
rs2087007660
|
|
NM_000548.5(TSC2):c.1453A>T (p.Ile485Phe)
|
rs2151188401
|
|
NM_000548.5(TSC2):c.1454T>A (p.Ile485Asn)
|
rs774265657
|
|
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile)
|
rs45486599
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.1460C>T (p.Ser487Leu)
|
rs2151188579
|
|
NM_000548.5(TSC2):c.1461A>T (p.Ser487=)
|
|
|
NM_000548.5(TSC2):c.1462G>A (p.Val488Met)
|
|
|
NM_000548.5(TSC2):c.1464G>C (p.Val488=)
|
rs1596311870
|
|
NM_000548.5(TSC2):c.1467C>G (p.Val489=)
|
|
|
NM_000548.5(TSC2):c.1469T>C (p.Ile490Thr)
|
|
|
NM_000548.5(TSC2):c.146G>A (p.Ser49Asn)
|
rs2084956276
|
|
NM_000548.5(TSC2):c.1470C>A (p.Ile490=)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1470del (p.Ser491fs)
|
rs2151188797
|
|
NM_000548.5(TSC2):c.1473G>T (p.Ser491=)
|
rs764767361
|
|
NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter)
|
rs1060500931
|
|
NM_000548.5(TSC2):c.1476G>C (p.Gln492His)
|
rs1596311941
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro)
|
rs397515029
|
|
NM_000548.5(TSC2):c.1479C>G (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.147C>T (p.Ser49=)
|
rs1555495692
|
|
NM_000548.5(TSC2):c.1480T>C (p.Ser494Pro)
|
rs1555502412
|
|
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
|
|
|
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)
|
rs751984707
|
|
NM_000548.5(TSC2):c.1482C>G (p.Ser494=)
|
rs549189961
|
|
NM_000548.5(TSC2):c.1482C>T (p.Ser494=)
|
rs549189961
|
|
NM_000548.5(TSC2):c.1483C>G (p.His495Asp)
|
rs2087013241
|
|
NM_000548.5(TSC2):c.1483C>T (p.His495Tyr)
|
rs2087013241
|
|
NM_000548.5(TSC2):c.1485C>T (p.His495=)
|
rs2151189170
|
|
NM_000548.5(TSC2):c.1486A>C (p.Ile496Leu)
|
rs1211121251
|
|
NM_000548.5(TSC2):c.1486A>G (p.Ile496Val)
|
|
|
NM_000548.5(TSC2):c.1487del (p.Ile496fs)
|
rs2087013746
|
|
NM_000548.5(TSC2):c.1488C>T (p.Ile496=)
|
rs1596312013
|
|
NM_000548.5(TSC2):c.1489C>A (p.Pro497Thr)
|
|
|
NM_000548.5(TSC2):c.1490C>T (p.Pro497Leu)
|
rs1484576810
|
|
NM_000548.5(TSC2):c.1491C>G (p.Pro497=)
|
rs781367910
|
|
NM_000548.5(TSC2):c.1491C>T (p.Pro497=)
|
rs781367910
|
|
NM_000548.5(TSC2):c.1491del (p.Glu498fs)
|
rs137854346
|
|
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)
|
rs45517178
|
|
NM_000548.5(TSC2):c.1495G>A (p.Asp499Asn)
|
rs1555502438
|
|
NM_000548.5(TSC2):c.1495G>C (p.Asp499His)
|
rs1555502438
|
|
NM_000548.5(TSC2):c.1497T>G (p.Asp499Glu)
|
rs1354915682
|
|
NM_000548.5(TSC2):c.1498A>G (p.Lys500Glu)
|
rs2151189527
|
|
NM_000548.5(TSC2):c.149T>C (p.Met50Thr)
|
rs1060500955
|
|
NM_000548.5(TSC2):c.1501G>A (p.Asp501Asn)
|
|
|
NM_000548.5(TSC2):c.1502del (p.Asp501fs)
|
rs1567437492
|
|
NM_000548.5(TSC2):c.1503C>T (p.Asp501=)
|
rs2087016490
|
|
NM_000548.5(TSC2):c.1504C>A (p.His502Asn)
|
rs1567437505
|
|
NM_000548.5(TSC2):c.1506C>T (p.His502=)
|
|
|
NM_000548.5(TSC2):c.1507C>G (p.Gln503Glu)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1508A>G (p.Gln503Arg)
|
rs1567437568
|
|
NM_000548.5(TSC2):c.1509G>A (p.Gln503=)
|
rs2151189853
|
|
NM_000548.5(TSC2):c.1509G>C (p.Gln503His)
|
|
|
NM_000548.5(TSC2):c.1510G>T (p.Val504Phe)
|
rs768707639
|
|
NM_000548.5(TSC2):c.1512C>A (p.Val504=)
|
rs146359990
|
|
NM_000548.5(TSC2):c.1512C>T (p.Val504=)
|
rs146359990
|
|
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1517A>G (p.Lys506Arg)
|
|
|
NM_000548.5(TSC2):c.1518G>T (p.Lys506Asn)
|
|
|
NM_000548.5(TSC2):c.1519C>G (p.Leu507Val)
|
|
|
NM_000548.5(TSC2):c.1519C>T (p.Leu507=)
|
|
|
NM_000548.5(TSC2):c.151G>C (p.Glu51Gln)
|
rs910205065
|
|
NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro)
|
rs1413063599
|
|
NM_000548.5(TSC2):c.1521G>A (p.Leu507=)
|
rs2151190089
|
|
NM_000548.5(TSC2):c.1521G>T (p.Leu507=)
|
rs2151190089
|
|
NM_000548.5(TSC2):c.1522G>A (p.Ala508Thr)
|
rs2087020192
|
|
NM_000548.5(TSC2):c.1522G>C (p.Ala508Pro)
|
|
|
NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp)
|
|
|
NM_000548.5(TSC2):c.1523C>T (p.Ala508Val)
|
|
|
NM_000548.5(TSC2):c.1524C>T (p.Ala508=)
|
rs2151190194
|
|
NM_000548.5(TSC2):c.1525A>G (p.Thr509Ala)
|
rs1042656602
|
|
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser)
|
rs2151190252
|
|
NM_000548.5(TSC2):c.1527C>A (p.Thr509=)
|
|
|
NM_000548.5(TSC2):c.1527C>G (p.Thr509=)
|
rs2151190276
|
|
NM_000548.5(TSC2):c.1529A>C (p.Gln510Pro)
|
rs1596312182
|
|
NM_000548.5(TSC2):c.1529A>G (p.Gln510Arg)
|
rs1596312182
|
|
NM_000548.5(TSC2):c.1530G>A (p.Gln510=)
|
|
|
NM_000548.5(TSC2):c.1530G>C (p.Gln510His)
|
rs1360209954
|
|
NM_000548.5(TSC2):c.1533G>A (p.Leu511=)
|
rs771932622
|
|
NM_000548.5(TSC2):c.1533G>C (p.Leu511Phe)
|
|
|
NM_000548.5(TSC2):c.1533G>T (p.Leu511Phe)
|
rs771932622
|
|
NM_000548.5(TSC2):c.1534C>T (p.Leu512=)
|
|
|
NM_000548.5(TSC2):c.1536G>C (p.Leu512=)
|
rs2151190487
|
|
NM_000548.5(TSC2):c.1537G>A (p.Val513Met)
|
|
|
NM_000548.5(TSC2):c.1539G>T (p.Val513=)
|
rs2087022460
|
|
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp)
|
rs746366461
|
|
NM_000548.5(TSC2):c.153A>G (p.Glu51=)
|
rs746366461
|
|
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1541A>G (p.Asp514Gly)
|
rs2087022663
|
|
NM_000548.5(TSC2):c.1542C>G (p.Asp514Glu)
|
rs2151190617
|
|
NM_000548.5(TSC2):c.1545G>A (p.Leu515=)
|
|
|
NM_000548.5(TSC2):c.1546G>T (p.Ala516Ser)
|
rs2151190732
|
|
NM_000548.5(TSC2):c.1547C>T (p.Ala516Val)
|
rs2151190764
|
|
NM_000548.5(TSC2):c.1548A>G (p.Ala516=)
|
rs2151190793
|
|
NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter)
|
rs1555502518
|
|
NM_000548.5(TSC2):c.154T>C (p.Cys52Arg)
|
rs2084958377
|
|
NM_000548.5(TSC2):c.1551G>A (p.Glu517=)
|
|
|
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)
|
rs1229407025
|
|
NM_000548.5(TSC2):c.1555T>G (p.Cys519Gly)
|
rs1156554876
|
|
NM_000548.5(TSC2):c.1556G>C (p.Cys519Ser)
|
|
|
NM_000548.5(TSC2):c.1559A>G (p.His520Arg)
|
rs1220672669
|
|
NM_000548.5(TSC2):c.1560C>G (p.His520Gln)
|
rs1596312329
|
|
NM_000548.5(TSC2):c.1560C>T (p.His520=)
|
rs1596312329
|
|
NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala)
|
rs1279109316
|
|
NM_000548.5(TSC2):c.1563A>T (p.Thr521=)
|
rs1464352573
|
|
NM_000548.5(TSC2):c.1563_1566del (p.His522fs)
|
|
|
NM_000548.5(TSC2):c.1563_1599+94del
|
rs2087026946
|
|
NM_000548.5(TSC2):c.1564C>G (p.His522Asp)
|
rs397514991
|
|
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr)
|
rs397514991
|
|
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del)
|
rs2087028639
|
|
NM_000548.5(TSC2):c.1565A>G (p.His522Arg)
|
rs397515147
|
|
NM_000548.5(TSC2):c.1565_1566del (p.His522fs)
|
rs1555502530
|
|
NM_000548.5(TSC2):c.1565_1566dup (p.His523fs)
|
rs1555502530
|
|
NM_000548.5(TSC2):c.1566C>A (p.His522Gln)
|
|
|
NM_000548.5(TSC2):c.1566C>G (p.His522Gln)
|
|
|
NM_000548.5(TSC2):c.1567C>T (p.His523Tyr)
|
rs1567438108
|
|
NM_000548.5(TSC2):c.1569C>T (p.His523=)
|
rs1420211177
|
|
NM_000548.5(TSC2):c.156T>C (p.Cys52=)
|
|
|
NM_000548.5(TSC2):c.1572C>G (p.Phe524Leu)
|
rs2151191560
|
|
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)
|
rs376573446
|
|
NM_000548.5(TSC2):c.1579C>T (p.Leu527=)
|
rs762173463
|
|
NM_000548.5(TSC2):c.1581G>A (p.Leu527=)
|
|
|
NM_000548.5(TSC2):c.1582C>G (p.Leu528Val)
|
|
|
NM_000548.5(TSC2):c.1582del (p.Leu528fs)
|
rs1060499647
|
|
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)
|
rs397514922
|
|
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)
|
rs2151191974
|
|
NM_000548.5(TSC2):c.1590C>A (p.Ile530=)
|
|
|
NM_000548.5(TSC2):c.1590C>G (p.Ile530Met)
|
rs2151191998
|
|
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)
|
rs45517180
|
|
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1597_1599del (p.Lys533del)
|
rs1596312554
|
|
NM_000548.5(TSC2):c.1599+12T>C
|
rs554900745
|
|
NM_000548.5(TSC2):c.1599+13G>T
|
|
|
NM_000548.5(TSC2):c.1599+14T>C
|
|
|
NM_000548.5(TSC2):c.1599+16C>A
|
rs45517181
|
|
NM_000548.5(TSC2):c.1599+16C>T
|
rs45517181
|
|
NM_000548.5(TSC2):c.1599+17C>A
|
rs1438908951
|
|
NM_000548.5(TSC2):c.1599+17C>G
|
|
|
NM_000548.5(TSC2):c.1599+17C>T
|
rs1438908951
|
|
NM_000548.5(TSC2):c.1599+18C>G
|
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+20G>A
|
|
|
NM_000548.5(TSC2):c.1599+2T>G
|
|
|
NM_000548.5(TSC2):c.1599+4A>C
|
rs2151192256
|
|
NM_000548.5(TSC2):c.1599+5G>A
|
rs397515100
|
|
NM_000548.5(TSC2):c.1599+5G>C
|
|
|
NM_000548.5(TSC2):c.1599+7G>A
|
rs1261800438
|
|
NM_000548.5(TSC2):c.1599+8C>T
|
rs780311327
|
|
NM_000548.5(TSC2):c.1599+9C>A
|
|
|
NM_000548.5(TSC2):c.1599+9_1599+34dup
|
rs1555502601
|
|
NM_000548.5(TSC2):c.1599G>A (p.Lys533=)
|
rs1555502589
|
|
NM_000548.5(TSC2):c.1600-10C>G
|
rs768188836
|
|
NM_000548.5(TSC2):c.1600-14C>A
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-14C>G
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-14C>T
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-16G>C
|
|
|
NM_000548.5(TSC2):c.1600-18C>G
|
|
|
NM_000548.5(TSC2):c.1600-18C>T
|
rs2151205529
|
|
NM_000548.5(TSC2):c.1600-19C>A
|
rs1397268426
|
|
NM_000548.5(TSC2):c.1600-19C>G
|
rs1397268426
|
|
NM_000548.5(TSC2):c.1600-19C>T
|
|
|
NM_000548.5(TSC2):c.1600-1G>C
|
|
|
NM_000548.5(TSC2):c.1600-3A>G
|
rs45517186
|
|
NM_000548.5(TSC2):c.1600-4A>G
|
|
|
NM_000548.5(TSC2):c.1600-5C>T
|
rs1426258365
|
|
NM_000548.5(TSC2):c.1600-7T>C
|
rs1459453778
|
|
NM_000548.5(TSC2):c.1600-7_1600-6del
|
|
|
NM_000548.5(TSC2):c.1600-8C>G
|
rs1555503101
|
|
NM_000548.5(TSC2):c.1600-8C>T
|
rs1555503101
|
|
NM_000548.5(TSC2):c.1600-9_1600-5del
|
rs2151205718
|
|
NM_000548.5(TSC2):c.1600G>A (p.Val534Met)
|
rs587778729
|
|
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)
|
rs924098595
|
|
NM_000548.5(TSC2):c.1602G>A (p.Val534=)
|
rs2151206157
|
|
NM_000548.5(TSC2):c.1604T>A (p.Met535Lys)
|
|
|
NM_000548.5(TSC2):c.1605G>A (p.Met535Ile)
|
rs2151206304
|
|
NM_000548.5(TSC2):c.1606G>A (p.Ala536Thr)
|
|
|
NM_000548.5(TSC2):c.1608C>G (p.Ala536=)
|
rs2151206478
|
|
NM_000548.5(TSC2):c.1608C>T (p.Ala536=)
|
rs2151206478
|
|
NM_000548.5(TSC2):c.1609C>A (p.Arg537Ser)
|
rs142257684
|
|
NM_000548.5(TSC2):c.1609C>G (p.Arg537Gly)
|
rs142257684
|
|
NM_000548.5(TSC2):c.1609dup (p.Arg537fs)
|
rs1555503131
|
|
NM_000548.5(TSC2):c.160C>G (p.Leu54Val)
|
rs1394176023
|
|
NM_000548.5(TSC2):c.160C>T (p.Leu54Phe)
|
rs1394176023
|
|
NM_000548.5(TSC2):c.1610G>C (p.Arg537Pro)
|
rs372681603
|
|
NM_000548.5(TSC2):c.1610G>T (p.Arg537Leu)
|
rs372681603
|
|
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.1613C>G (p.Ser538Cys)
|
rs201334685
|
|
NM_000548.5(TSC2):c.1614C>T (p.Ser538=)
|
rs759762459
|
|
NM_000548.5(TSC2):c.1615C>G (p.Leu539Val)
|
rs2087226024
|
|
NM_000548.5(TSC2):c.1615C>T (p.Leu539Phe)
|
rs2087226024
|
|
NM_000548.5(TSC2):c.1616T>C (p.Leu539Pro)
|
|
|
NM_000548.5(TSC2):c.1617C>A (p.Leu539=)
|
rs1596317183
|
|
NM_000548.5(TSC2):c.1617C>G (p.Leu539=)
|
rs1596317183
|
|
NM_000548.5(TSC2):c.1617C>T (p.Leu539=)
|
rs1596317183
|
|
NM_000548.5(TSC2):c.1618T>C (p.Ser540Pro)
|
|
|
NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe)
|
rs1296271407
|
|
NM_000548.5(TSC2):c.161T>G (p.Leu54Arg)
|
|
|
NM_000548.5(TSC2):c.1620C>T (p.Ser540=)
|
rs2151207054
|
|
NM_000548.5(TSC2):c.1621C>A (p.Pro541Thr)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1621C>G (p.Pro541Ala)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1621C>T (p.Pro541Ser)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1622C>A (p.Pro541Gln)
|
rs752953762
|
|
NM_000548.5(TSC2):c.1623A>G (p.Pro541=)
|
|
|
NM_000548.5(TSC2):c.1623A>T (p.Pro541=)
|
|
|
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1624C>G (p.Pro542Ala)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1625C>A (p.Pro542His)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1625C>G (p.Pro542Arg)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1626C>A (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1626C>G (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1626C>T (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1627C>G (p.Pro543Ala)
|
|
|
NM_000548.5(TSC2):c.1628del (p.Pro543fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1628dup (p.Glu544fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1629G>T (p.Pro543=)
|
|
|
NM_000548.5(TSC2):c.162CAA[1] (p.Asn56del)
|
|
|
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp)
|
rs137854075
|
|
NM_000548.5(TSC2):c.1633C>G (p.Leu545Val)
|
rs1060504103
|
|
NM_000548.5(TSC2):c.1633C>T (p.Leu545=)
|
rs1060504103
|
|
NM_000548.5(TSC2):c.1634T>C (p.Leu545Pro)
|
|
|
NM_000548.5(TSC2):c.1635G>A (p.Leu545=)
|
rs755923499
|
|
NM_000548.5(TSC2):c.1636G>T (p.Glu546Ter)
|
rs2087230941
|
|
NM_000548.5(TSC2):c.163A>C (p.Asn55His)
|
rs2084958940
|
|
NM_000548.5(TSC2):c.1640A>G (p.Glu547Gly)
|
rs2087231131
|
|
NM_000548.5(TSC2):c.1642A>G (p.Arg548Gly)
|
rs565375272
|
|
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr)
|
rs748938385
|
|
NM_000548.5(TSC2):c.1644G>A (p.Arg548=)
|
|
|
NM_000548.5(TSC2):c.1646A>C (p.Asp549Ala)
|
|
|
NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.1646A>T (p.Asp549Val)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.1648G>A (p.Val550Met)
|
rs2087232543
|
|
NM_000548.5(TSC2):c.164A>G (p.Asn55Ser)
|
rs1555495709
|
|
NM_000548.5(TSC2):c.1650G>A (p.Val550=)
|
|
|
NM_000548.5(TSC2):c.1651G>T (p.Ala551Ser)
|
rs149877669
|
|
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)
|
rs1465307943
|
|
NM_000548.5(TSC2):c.1653C>G (p.Ala551=)
|
rs202171361
|
|
NM_000548.5(TSC2):c.1654G>T (p.Ala552Ser)
|
|
|
NM_000548.5(TSC2):c.1655C>T (p.Ala552Val)
|
rs1555503231
|
|
NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter)
|
|
|
NM_000548.5(TSC2):c.1659C>G (p.Tyr553Ter)
|
|
|
NM_000548.5(TSC2):c.165C>T (p.Asn55=)
|
rs1596245687
|
|
NM_000548.5(TSC2):c.1660T>A (p.Ser554Thr)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)
|
rs45471596
|
|
NM_000548.5(TSC2):c.1661C>G (p.Ser554Trp)
|
|
|
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)
|
rs763183991
|
|
NM_000548.5(TSC2):c.1663G>T (p.Ala555Ser)
|
rs763183991
|
|
NM_000548.5(TSC2):c.1665C>T (p.Ala555=)
|
rs2151208963
|
|
NM_000548.5(TSC2):c.1666T>C (p.Ser556Pro)
|
|
|
NM_000548.5(TSC2):c.1667C>T (p.Ser556Phe)
|
rs2087235893
|
|
NM_000548.5(TSC2):c.1668C>G (p.Ser556=)
|
rs764091433
|
|
NM_000548.5(TSC2):c.1668C>T (p.Ser556=)
|
rs764091433
|
|
NM_000548.5(TSC2):c.1669T>A (p.Leu557Met)
|
|
|
NM_000548.5(TSC2):c.1669T>G (p.Leu557Val)
|
|
|
NM_000548.5(TSC2):c.1670T>C (p.Leu557Ser)
|
|
|
NM_000548.5(TSC2):c.1670T>G (p.Leu557Trp)
|
|
|
NM_000548.5(TSC2):c.1671G>A (p.Leu557=)
|
rs761975891
|
|
NM_000548.5(TSC2):c.1673A>G (p.Glu558Gly)
|
rs1596317476
|
|
NM_000548.5(TSC2):c.1673A>T (p.Glu558Val)
|
rs1596317476
|
|
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr)
|
rs1555503254
|
|
NM_000548.5(TSC2):c.1676A>G (p.Asp559Gly)
|
rs767619776
|
|
NM_000548.5(TSC2):c.1677T>C (p.Asp559=)
|
rs1555503256
|
|
NM_000548.5(TSC2):c.167A>T (p.Asn56Ile)
|
rs144165984
|
|
NM_000548.5(TSC2):c.1680G>C (p.Val560=)
|
rs1247485772
|
|
NM_000548.5(TSC2):c.1683G>A (p.Lys561=)
|
rs2087238377
|
|
NM_000548.5(TSC2):c.1683G>T (p.Lys561Asn)
|
|
|
NM_000548.5(TSC2):c.1683_1685del (p.Thr562del)
|
|
|
NM_000548.5(TSC2):c.1688C>T (p.Ala563Val)
|
|
|
NM_000548.5(TSC2):c.1690G>A (p.Val564Ile)
|
rs147072281
|
|
NM_000548.5(TSC2):c.1690G>C (p.Val564Leu)
|
rs147072281
|
|
NM_000548.5(TSC2):c.1692C>T (p.Val564=)
|
rs2151210021
|
|
NM_000548.5(TSC2):c.1693C>G (p.Leu565Val)
|
rs878854078
|
|
NM_000548.5(TSC2):c.1693C>T (p.Leu565=)
|
rs878854078
|
|
NM_000548.5(TSC2):c.1694T>A (p.Leu565Gln)
|
rs2087239987
|
|
NM_000548.5(TSC2):c.1694T>C (p.Leu565Pro)
|
rs2087239987
|
|
NM_000548.5(TSC2):c.1696G>A (p.Gly566Arg)
|
rs1596317594
|
|
NM_000548.5(TSC2):c.1698G>A (p.Gly566=)
|
|
|
NM_000548.5(TSC2):c.1699C>T (p.Leu567Phe)
|
rs2087240694
|
|
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly)
|
rs1555494544
|
|
NM_000548.5(TSC2):c.16A>T (p.Ser6Cys)
|
rs1555494544
|
|
NM_000548.5(TSC2):c.16dup (p.Ser6fs)
|
rs2150970014
|
|
NM_000548.5(TSC2):c.1701T>C (p.Leu567=)
|
|
|
NM_000548.5(TSC2):c.1702C>G (p.Leu568Val)
|
|
|
NM_000548.5(TSC2):c.1706T>A (p.Val569Asp)
|
|
|
NM_000548.5(TSC2):c.1707C>G (p.Val569=)
|
|
|
NM_000548.5(TSC2):c.1707C>T (p.Val569=)
|
rs1379203110
|
|
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val)
|
rs397515230
|
|
NM_000548.5(TSC2):c.1710C>T (p.Ile570=)
|
rs1470229525
|
|
NM_000548.5(TSC2):c.1711C>T (p.Leu571Phe)
|
rs1596317641
|
|
NM_000548.5(TSC2):c.1713T>C (p.Leu571=)
|
rs2151210746
|
|
NM_000548.5(TSC2):c.1713T>G (p.Leu571=)
|
rs2151210746
|
|
NM_000548.5(TSC2):c.1714C>G (p.Gln572Glu)
|
|
|
NM_000548.5(TSC2):c.1714C>T (p.Gln572Ter)
|
rs2087242404
|
|
NM_000548.5(TSC2):c.1715A>C (p.Gln572Pro)
|
rs1596317664
|
|
NM_000548.5(TSC2):c.1716+10C>T
|
rs45464995
|
|
NM_000548.5(TSC2):c.1716+13C>G
|
|
|
NM_000548.5(TSC2):c.1716+15C>G
|
rs199964793
|
|
NM_000548.5(TSC2):c.1716+15C>T
|
rs199964793
|
|
NM_000548.5(TSC2):c.1716+18G>A
|
|
|
NM_000548.5(TSC2):c.1716+3G>A
|
rs1596317691
|
|
NM_000548.5(TSC2):c.1716+3G>C
|
rs1596317691
|
|
NM_000548.5(TSC2):c.1716+4G>C
|
|
|
NM_000548.5(TSC2):c.1716+5G>C
|
rs1596317714
|
|
NM_000548.5(TSC2):c.1716G>A (p.Gln572=)
|
rs397514917
|
|
NM_000548.5(TSC2):c.1717-10C>G
|
|
|
NM_000548.5(TSC2):c.1717-115_1759del
|
rs2151275013
|
|
NM_000548.5(TSC2):c.1717-11T>C
|
rs2151277310
|
|
NM_000548.5(TSC2):c.1717-12C>G
|
rs2151277263
|
|
NM_000548.5(TSC2):c.1717-12C>T
|
|
|
NM_000548.5(TSC2):c.1717-12CT[3]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1717-13C>T
|
rs2151277233
|
|
NM_000548.5(TSC2):c.1717-15G>A
|
rs372949465
|
|
NM_000548.5(TSC2):c.1717-15_1717-13del
|
|
|
NM_000548.5(TSC2):c.1717-17G>A
|
rs2151277082
|
|
NM_000548.5(TSC2):c.1717-17G>C
|
rs2151277082
|
|
NM_000548.5(TSC2):c.1717-18T>C
|
|
|
NM_000548.5(TSC2):c.1717-19C>T
|
rs2151277025
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
NM_000548.5(TSC2):c.1717-20G>A
|
rs1555505006
|
|
NM_000548.5(TSC2):c.1717-20G>T
|
rs1555505006
|
|
NM_000548.5(TSC2):c.1717-2A>C
|
rs1596335963
|
|
NM_000548.5(TSC2):c.1717-3C>T
|
rs2151277529
|
|
NM_000548.5(TSC2):c.1717-3del
|
|
|
NM_000548.5(TSC2):c.1717-4G>A
|
|
|
NM_000548.5(TSC2):c.1717-5T>A
|
rs2088113456
|
|
NM_000548.5(TSC2):c.1717-5T>C
|
|
|
NM_000548.5(TSC2):c.1717-6C>G
|
rs1596335934
|
|
NM_000548.5(TSC2):c.1717-8C>A
|
rs755425128
|
|
NM_000548.5(TSC2):c.1717-8C>G
|
rs755425128
|
|
NM_000548.5(TSC2):c.1717-8C>T
|
|
|
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
|
|
|
NM_000548.5(TSC2):c.1719C>G (p.Thr573=)
|
|
|
NM_000548.5(TSC2):c.1719C>T (p.Thr573=)
|
rs2151277677
|
|
NM_000548.5(TSC2):c.1720A>G (p.Lys574Glu)
|
rs2088115626
|
|
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg)
|
rs1060500926
|
|
NM_000548.5(TSC2):c.1722G>A (p.Lys574=)
|
rs1596336026
|
|
NM_000548.5(TSC2):c.1723C>G (p.Leu575Val)
|
rs1419122104
|
|
NM_000548.5(TSC2):c.1723C>T (p.Leu575=)
|
rs1419122104
|
|
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro)
|
rs1567456901
|
|
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
|
|
|
NM_000548.5(TSC2):c.1725G>A (p.Leu575=)
|
rs747173035
|
|
NM_000548.5(TSC2):c.1725G>T (p.Leu575=)
|
rs747173035
|
|
NM_000548.5(TSC2):c.1726T>C (p.Tyr576His)
|
|
|
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=)
|
rs966102111
|
|
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.1729A>T (p.Thr577Ser)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.172A>G (p.Ile58Val)
|
rs2084960700
|
|
NM_000548.5(TSC2):c.1732C>G (p.Leu578Val)
|
rs1204972424
|
|
NM_000548.5(TSC2):c.1732C>T (p.Leu578=)
|
rs1204972424
|
|
NM_000548.5(TSC2):c.1732dup (p.Leu578fs)
|
rs2151278146
|
|
NM_000548.5(TSC2):c.1734G>C (p.Leu578=)
|
|
|
NM_000548.5(TSC2):c.1734G>T (p.Leu578=)
|
rs2151278251
|
|
NM_000548.5(TSC2):c.1735C>A (p.Pro579Thr)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu)
|
|
|
NM_000548.5(TSC2):c.1738G>A (p.Ala580Thr)
|
rs1596336167
|
|
NM_000548.5(TSC2):c.1739C>T (p.Ala580Val)
|
rs765043471
|
|
NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs)
|
rs2088122285
|
|
NM_000548.5(TSC2):c.1740A>C (p.Ala580=)
|
rs1057522755
|
|
NM_000548.5(TSC2):c.1740A>G (p.Ala580=)
|
rs1057522755
|
|
NM_000548.5(TSC2):c.1741A>T (p.Ser581Cys)
|
rs2151278580
|
|
NM_000548.5(TSC2):c.1741_1745dup (p.His582fs)
|
rs2151278476
|
|
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn)
|
rs45517197
|
|
NM_000548.5(TSC2):c.1742G>T (p.Ser581Ile)
|
rs45517197
|
|
NM_000548.5(TSC2):c.1743C>T (p.Ser581=)
|
rs775195398
|
|
NM_000548.5(TSC2):c.1744C>G (p.His582Asp)
|
rs1385373190
|
|
NM_000548.5(TSC2):c.1744C>T (p.His582Tyr)
|
|
|
NM_000548.5(TSC2):c.1745A>G (p.His582Arg)
|
rs2088124334
|
|
NM_000548.5(TSC2):c.1745A>T (p.His582Leu)
|
rs2088124334
|
|
NM_000548.5(TSC2):c.1746C>A (p.His582Gln)
|
rs876658921
|
|
NM_000548.5(TSC2):c.1746C>T (p.His582=)
|
rs876658921
|
|
NM_000548.5(TSC2):c.1749_1753dup (p.Arg585fs)
|
rs1567457100
|
|
NM_000548.5(TSC2):c.174C>A (p.Ile58=)
|
rs2150995862
|
|
NM_000548.5(TSC2):c.174C>T (p.Ile58=)
|
rs2150995862
|
|
NM_000548.5(TSC2):c.1752G>C (p.Thr584=)
|
rs141285742
|
|
NM_000548.5(TSC2):c.1752G>T (p.Thr584=)
|
rs141285742
|
|
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly)
|
rs370324876
|
|
NM_000548.5(TSC2):c.1753_1754del (p.Arg585fs)
|
|
|
NM_000548.5(TSC2):c.1754G>T (p.Arg585Leu)
|
|
|
NM_000548.5(TSC2):c.1755T>C (p.Arg585=)
|
rs755484371
|
|
NM_000548.5(TSC2):c.1756G>A (p.Val586Met)
|
|
|
NM_000548.5(TSC2):c.1756G>C (p.Val586Leu)
|
|
|
NM_000548.5(TSC2):c.1757T>A (p.Val586Glu)
|
rs2088127954
|
|
NM_000548.5(TSC2):c.1757T>C (p.Val586Ala)
|
rs2088127954
|
|
NM_000548.5(TSC2):c.1757T>G (p.Val586Gly)
|
|
|
NM_000548.5(TSC2):c.1758G>A (p.Val586=)
|
rs1555505092
|
|
NM_000548.5(TSC2):c.1758G>T (p.Val586=)
|
rs1555505092
|
|
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His)
|
rs1555505094
|
|
NM_000548.5(TSC2):c.175C>A (p.Arg59=)
|
rs1015282988
|
|
NM_000548.5(TSC2):c.1760A>G (p.Tyr587Cys)
|
rs1487642536
|
|
NM_000548.5(TSC2):c.1761T>C (p.Tyr587=)
|
rs753179817
|
|
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys)
|
rs1596336374
|
|
NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter)
|
rs1596336374
|
|
NM_000548.5(TSC2):c.1763A>T (p.Glu588Val)
|
|
|
NM_000548.5(TSC2):c.1764G>A (p.Glu588=)
|
|
|
NM_000548.5(TSC2):c.1764G>C (p.Glu588Asp)
|
rs2088130143
|
|
NM_000548.5(TSC2):c.1764_1765del (p.Glu588fs)
|
rs1555505103
|
|
NM_000548.5(TSC2):c.1765A>G (p.Met589Val)
|
rs1567457356
|
|
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys)
|
rs796053487
|
|
NM_000548.5(TSC2):c.1766T>C (p.Met589Thr)
|
|
|
NM_000548.5(TSC2):c.1766T>G (p.Met589Arg)
|
rs796053487
|
|
NM_000548.5(TSC2):c.1767G>A (p.Met589Ile)
|
|
|
NM_000548.5(TSC2):c.1767G>C (p.Met589Ile)
|
|
|
NM_000548.5(TSC2):c.1768C>T (p.Leu590=)
|
rs758824621
|
|
NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs)
|
rs1596336436
|
|
NM_000548.5(TSC2):c.1769_1776del (p.Leu590fs)
|
rs2151279634
|
|
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)
|
rs1161261925
|
|
NM_000548.5(TSC2):c.176G>C (p.Arg59Pro)
|
rs1161261925
|
|
NM_000548.5(TSC2):c.1770G>C (p.Leu590=)
|
rs778109774
|
|
NM_000548.5(TSC2):c.1770G>T (p.Leu590=)
|
rs778109774
|
|
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile)
|
rs984275273
|
|
NM_000548.5(TSC2):c.1771G>C (p.Val591Leu)
|
|
|
NM_000548.5(TSC2):c.1772T>G (p.Val591Gly)
|
|
|
NM_000548.5(TSC2):c.1773C>G (p.Val591=)
|
rs1596336485
|
|
NM_000548.5(TSC2):c.1773C>T (p.Val591=)
|
rs1596336485
|
|
NM_000548.5(TSC2):c.1775G>C (p.Ser592Thr)
|
|
|
NM_000548.5(TSC2):c.1776C>G (p.Ser592Arg)
|
|
|
NM_000548.5(TSC2):c.1776C>T (p.Ser592=)
|
rs1555505122
|
|
NM_000548.5(TSC2):c.1777C>T (p.His593Tyr)
|
rs1555505123
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1779C>T (p.His593=)
|
rs771078126
|
|
NM_000548.5(TSC2):c.177G>C (p.Arg59=)
|
|
|
NM_000548.5(TSC2):c.1780A>G (p.Ile594Val)
|
rs1555505128
|
|
NM_000548.5(TSC2):c.1782T>C (p.Ile594=)
|
rs1596336548
|
|
NM_000548.5(TSC2):c.1783C>G (p.Gln595Glu)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro)
|
rs781087045
|
|
NM_000548.5(TSC2):c.1786C>A (p.Leu596Ile)
|
rs2088136491
|
|
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
|
|
|
NM_000548.5(TSC2):c.1787T>A (p.Leu596His)
|
rs45517200
|
|
NM_000548.5(TSC2):c.1788C>G (p.Leu596=)
|
rs2151280431
|
|
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr)
|
rs397515246
|
|
NM_000548.5(TSC2):c.1789dup (p.His597fs)
|
|
|
NM_000548.5(TSC2):c.178A>T (p.Met60Leu)
|
rs1053960780
|
|
NM_000548.5(TSC2):c.1790A>G (p.His597Arg)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1790A>T (p.His597Leu)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1791C>G (p.His597Gln)
|
rs886038350
|
|
NM_000548.5(TSC2):c.1791C>T (p.His597=)
|
rs886038350
|
|
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)
|
rs45517201
|
|
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)
|
rs45509094
|
|
NM_000548.5(TSC2):c.1795A>G (p.Lys599Glu)
|
rs2088139595
|
|
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg)
|
rs45517202
|
|
NM_000548.5(TSC2):c.1797G>A (p.Lys599=)
|
rs1168827262
|
|
NM_000548.5(TSC2):c.1798C>G (p.His600Asp)
|
rs775390128
|
|
NM_000548.5(TSC2):c.1799A>G (p.His600Arg)
|
|
|
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)
|
rs758239066
|
|
NM_000548.5(TSC2):c.17G>C (p.Ser6Thr)
|
rs758239066
|
|
NM_000548.5(TSC2):c.1800C>A (p.His600Gln)
|
rs762782913
|
|
NM_000548.5(TSC2):c.1801A>G (p.Ser601Gly)
|
|
|
NM_000548.5(TSC2):c.1802G>A (p.Ser601Asn)
|
rs2151281011
|
|
NM_000548.5(TSC2):c.1803C>A (p.Ser601Arg)
|
rs1044401463
|
|
NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg)
|
|
|
NM_000548.5(TSC2):c.1804T>C (p.Tyr602His)
|
|
|
NM_000548.5(TSC2):c.1805A>G (p.Tyr602Cys)
|
rs1596336738
|
|
NM_000548.5(TSC2):c.1807A>T (p.Thr603Ser)
|
rs876660140
|
|
NM_000548.5(TSC2):c.1808C>G (p.Thr603Ser)
|
rs1318655892
|
|
NM_000548.5(TSC2):c.1808C>T (p.Thr603Ile)
|
rs1318655892
|
|
NM_000548.5(TSC2):c.1809C>T (p.Thr603=)
|
rs1016247433
|
|
NM_000548.5(TSC2):c.1810C>T (p.Leu604=)
|
|
|
NM_000548.5(TSC2):c.1812G>A (p.Leu604=)
|
rs2151281344
|
|
NM_000548.5(TSC2):c.1813C>A (p.Pro605Thr)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1813C>T (p.Pro605Ser)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu)
|
rs1555505178
|
|
NM_000548.5(TSC2):c.1815A>T (p.Pro605=)
|
rs961687056
|
|
NM_000548.5(TSC2):c.1816A>T (p.Ile606Phe)
|
|
|
NM_000548.5(TSC2):c.1817T>C (p.Ile606Thr)
|
|
|
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
|
|
|
NM_000548.5(TSC2):c.1818C>G (p.Ile606Met)
|
rs547389841
|
|
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser)
|
rs45517203
|
|
NM_000548.5(TSC2):c.181A>G (p.Ile61Val)
|
rs2084961446
|
|
NM_000548.5(TSC2):c.181A>T (p.Ile61Leu)
|
rs2084961446
|
|
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu)
|
rs397515296
|
|
NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly)
|
rs397515296
|
|
NM_000548.5(TSC2):c.1823G>A (p.Ser608Asn)
|
rs753235037
|
|
NM_000548.5(TSC2):c.1823GCA[3] (p.Ser609dup)
|
rs137854260
|
|
NM_000548.5(TSC2):c.1824C>T (p.Ser608=)
|
rs886038351
|
|
NM_000548.5(TSC2):c.1827C>T (p.Ser609=)
|
|
|
NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu)
|
|
|
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)
|
rs1285778253
|
|
NM_000548.5(TSC2):c.1831C>A (p.Arg611=)
|
rs45469298
|
|
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.1834C>G (p.Leu612Val)
|
rs1192397083
|
|
NM_000548.5(TSC2):c.1834C>T (p.Leu612=)
|
|
|
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)
|
rs1567458244
|
|
NM_000548.5(TSC2):c.1836G>T (p.Leu612=)
|
rs758839898
|
|
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg)
|
rs2151282389
|
|
NM_000548.5(TSC2):c.1839+11T>C
|
rs1156870913
|
|
NM_000548.5(TSC2):c.1839+11T>G
|
rs1156870913
|
|
NM_000548.5(TSC2):c.1839+12G>A
|
|
|
NM_000548.5(TSC2):c.1839+13G>A
|
rs556485459
|
|
NM_000548.5(TSC2):c.1839+13G>C
|
|
|
NM_000548.5(TSC2):c.1839+15G>A
|
rs2151282851
|
|
NM_000548.5(TSC2):c.1839+15G>C
|
|
|
NM_000548.5(TSC2):c.1839+15G>T
|
rs2151282851
|
|
NM_000548.5(TSC2):c.1839+17T>G
|
rs1401501199
|
|
NM_000548.5(TSC2):c.1839+18G>A
|
|
|
NM_000548.5(TSC2):c.1839+18G>C
|
rs2151282939
|
|
NM_000548.5(TSC2):c.1839+1G>T
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+20G>C
|
rs569912958
|
|
NM_000548.5(TSC2):c.1839+20G>T
|
rs569912958
|
|
NM_000548.5(TSC2):c.1839+20_1839+38del
|
rs2151282952
|
|
NM_000548.5(TSC2):c.1839+2T>C
|
rs1555505211
|
|
NM_000548.5(TSC2):c.1839+3A>G
|
rs1596336981
|
|
NM_000548.5(TSC2):c.1839+3A>T
|
rs1596336981
|
|
NM_000548.5(TSC2):c.1839+4T>C
|
rs1246472342
|
|
NM_000548.5(TSC2):c.1839+5G>C
|
rs200568460
|
|
NM_000548.5(TSC2):c.1839+7T>C
|
|
|
NM_000548.5(TSC2):c.1839+7_1839+8dup
|
|
|
NM_000548.5(TSC2):c.1839+8G>A
|
rs778061556
|
|
NM_000548.5(TSC2):c.1839+9G>C
|
rs751834233
|
|
NM_000548.5(TSC2):c.1839+9G>T
|
rs751834233
|
|
NM_000548.5(TSC2):c.1839+9del
|
rs2151282659
|
|
NM_000548.5(TSC2):c.1839G>A (p.Gln613=)
|
rs1555505208
|
|
NM_000548.5(TSC2):c.1839G>C (p.Gln613His)
|
rs1555505208
|
|
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)
|
rs2084961841
|
|
NM_000548.5(TSC2):c.1840-10T>C
|
rs2151295657
|
|
NM_000548.5(TSC2):c.1840-11C>T
|
|
|
NM_000548.5(TSC2):c.1840-12T>A
|
|
|
NM_000548.5(TSC2):c.1840-12T>C
|
|
|
NM_000548.5(TSC2):c.1840-13C>G
|
rs1186556063
|
|
NM_000548.5(TSC2):c.1840-13_1840-11del
|
rs1567461599
|
|
NM_000548.5(TSC2):c.1840-14C>A
|
rs539450042
|
|
NM_000548.5(TSC2):c.1840-18C>G
|
|
|
NM_000548.5(TSC2):c.1840-18C>T
|
rs2151295417
|
|
NM_000548.5(TSC2):c.1840-1G>A
|
rs397514953
|
|
NM_000548.5(TSC2):c.1840-2A>G
|
rs45517205
|
|
NM_000548.5(TSC2):c.1840-3C>A
|
|
|
NM_000548.5(TSC2):c.1840-3C>G
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-3C>T
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-4A>C
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1840-4A>G
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1840-5G>C
|
rs2151295776
|
|
NM_000548.5(TSC2):c.1840-6T>A
|
rs747952317
|
|
NM_000548.5(TSC2):c.1840-7C>A
|
|
|
NM_000548.5(TSC2):c.1840-7C>G
|
rs1567461653
|
|
NM_000548.5(TSC2):c.1840-7C>T
|
rs1567461653
|
|
NM_000548.5(TSC2):c.1840-7del
|
|
|
NM_000548.5(TSC2):c.1840-8C>G
|
rs778905320
|
|
NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro)
|
rs397515199
|
|
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)
|
rs45454398
|
|
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val)
|
rs1446136662
|
|
NM_000548.5(TSC2):c.1845T>C (p.Phe615=)
|
rs1281870505
|
|
NM_000548.5(TSC2):c.1845del (p.Phe615fs)
|
rs137854248
|
|
NM_000548.5(TSC2):c.1846G>A (p.Asp616Asn)
|
|
|
NM_000548.5(TSC2):c.1847A>C (p.Asp616Ala)
|
rs2151296149
|
|
NM_000548.5(TSC2):c.1847A>G (p.Asp616Gly)
|
|
|
NM_000548.5(TSC2):c.1850T>A (p.Phe617Tyr)
|
|
|
NM_000548.5(TSC2):c.1851C>G (p.Phe617Leu)
|
rs1446662814
|
|
NM_000548.5(TSC2):c.1852C>T (p.Leu618=)
|
rs1164507294
|
|
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup)
|
rs2088385424
|
|
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)
|
rs397515195
|
|
NM_000548.5(TSC2):c.1858C>T (p.Leu620=)
|
rs1212638240
|
|
NM_000548.5(TSC2):c.1859T>C (p.Leu620Pro)
|
rs1567461912
|
|
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu)
|
rs397515045
|
|
NM_000548.5(TSC2):c.1862T>G (p.Leu621Arg)
|
|
|
NM_000548.5(TSC2):c.1863G>T (p.Leu621=)
|
rs1485599658
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.1866G>A (p.Arg622=)
|
rs1397060903
|
|
NM_000548.5(TSC2):c.1866G>C (p.Arg622=)
|
|
|
NM_000548.5(TSC2):c.1866G>T (p.Arg622=)
|
rs1397060903
|
|
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs)
|
rs2088388374
|
|
NM_000548.5(TSC2):c.1867G>C (p.Ala623Pro)
|
|
|
NM_000548.5(TSC2):c.1867G>T (p.Ala623Ser)
|
rs1596342269
|
|
NM_000548.5(TSC2):c.1868C>T (p.Ala623Val)
|
rs1057522306
|
|
NM_000548.5(TSC2):c.1869C>A (p.Ala623=)
|
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1869del (p.Asp624fs)
|
|
|
NM_000548.5(TSC2):c.186G>A (p.Gly62=)
|
|
|
NM_000548.5(TSC2):c.1870G>T (p.Asp624Tyr)
|
|
|
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)
|
rs2151296839
|
|
NM_000548.5(TSC2):c.1872C>G (p.Asp624Glu)
|
rs1596342301
|
|
NM_000548.5(TSC2):c.1872C>T (p.Asp624=)
|
rs1596342301
|
|
NM_000548.5(TSC2):c.1875A>C (p.Ser625=)
|
rs1555505786
|
|
NM_000548.5(TSC2):c.1875A>G (p.Ser625=)
|
|
|
NM_000548.5(TSC2):c.1876C>G (p.Leu626Val)
|
rs903369062
|
|
NM_000548.5(TSC2):c.1877T>C (p.Leu626Pro)
|
|
|
NM_000548.5(TSC2):c.1878G>A (p.Leu626=)
|
|
|
NM_000548.5(TSC2):c.1878G>C (p.Leu626=)
|
rs2151297078
|
|
NM_000548.5(TSC2):c.1879C>A (p.His627Asn)
|
|
|
NM_000548.5(TSC2):c.1879C>T (p.His627Tyr)
|
|
|
NM_000548.5(TSC2):c.1880A>G (p.His627Arg)
|
rs2088392295
|
|
NM_000548.5(TSC2):c.1881C>A (p.His627Gln)
|
rs967430707
|
|
NM_000548.5(TSC2):c.1881C>T (p.His627=)
|
|
|
NM_000548.5(TSC2):c.1881_1882del (p.His627fs)
|
rs2151297228
|
|
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)
|
rs45437797
|
|
NM_000548.5(TSC2):c.1883G>T (p.Arg628Leu)
|
|
|
NM_000548.5(TSC2):c.1884C>T (p.Arg628=)
|
rs1225653495
|
|
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)
|
rs570409651
|
|
NM_000548.5(TSC2):c.1885C>T (p.Leu629=)
|
rs570409651
|
|
NM_000548.5(TSC2):c.1888G>A (p.Gly630Ser)
|
rs2088394240
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.188A>G (p.Gln63Arg)
|
|
|
NM_000548.5(TSC2):c.188A>T (p.Gln63Leu)
|
rs2150996390
|
|
NM_000548.5(TSC2):c.1890C>T (p.Gly630=)
|
rs2151297477
|
|
NM_000548.5(TSC2):c.1891C>T (p.Leu631=)
|
rs575892718
|
|
NM_000548.5(TSC2):c.1893G>A (p.Leu631=)
|
|
|
NM_000548.5(TSC2):c.1893G>C (p.Leu631=)
|
rs1200431267
|
|
NM_000548.5(TSC2):c.1893G>T (p.Leu631=)
|
rs1200431267
|
|
NM_000548.5(TSC2):c.1895C>G (p.Pro632Arg)
|
rs750663771
|
|
NM_000548.5(TSC2):c.1895C>T (p.Pro632Leu)
|
rs750663771
|
|
NM_000548.5(TSC2):c.1899C>G (p.Asn633Lys)
|
rs2088398113
|
|
NM_000548.5(TSC2):c.1899C>T (p.Asn633=)
|
rs2088398113
|
|
NM_000548.5(TSC2):c.1901A>G (p.Lys634Arg)
|
|
|
NM_000548.5(TSC2):c.1902G>A (p.Lys634=)
|
rs2088398778
|
|
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn)
|
rs1060500932
|
|
NM_000548.5(TSC2):c.1904A>G (p.Asp635Gly)
|
rs2088399323
|
|
NM_000548.5(TSC2):c.1905T>C (p.Asp635=)
|
rs1596342515
|
|
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)
|
rs1596342515
|
|
NM_000548.5(TSC2):c.1906G>A (p.Gly636Arg)
|
|
|
NM_000548.5(TSC2):c.1908A>G (p.Gly636=)
|
rs2151298080
|
|
NM_000548.5(TSC2):c.1909G>C (p.Val637Leu)
|
rs2088399918
|
|
NM_000548.5(TSC2):c.190A>C (p.Ile64Leu)
|
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
NM_000548.5(TSC2):c.190A>T (p.Ile64Phe)
|
rs397515081
|
|
NM_000548.5(TSC2):c.1911C>A (p.Val637=)
|
rs543584836
|
|
NM_000548.5(TSC2):c.1912G>A (p.Val638Met)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1912G>C (p.Val638Leu)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1912_1924del (p.Val638fs)
|
|
|
NM_000548.5(TSC2):c.1914G>A (p.Val638=)
|
rs933464584
|
|
NM_000548.5(TSC2):c.1914G>T (p.Val638=)
|
|
|
NM_000548.5(TSC2):c.1915C>A (p.Arg639=)
|
rs766451267
|
|
NM_000548.5(TSC2):c.1916G>T (p.Arg639Leu)
|
rs753932484
|
|
NM_000548.5(TSC2):c.1917G>A (p.Arg639=)
|
rs2151298410
|
|
NM_000548.5(TSC2):c.1918T>C (p.Phe640Leu)
|
|
|
NM_000548.5(TSC2):c.1920C>T (p.Phe640=)
|
|
|
NM_000548.5(TSC2):c.1921A>G (p.Ser641Gly)
|
|
|
NM_000548.5(TSC2):c.1922G>A (p.Ser641Asn)
|
rs397514964
|
|
NM_000548.5(TSC2):c.1923C>T (p.Ser641=)
|
rs1555505825
|
|
NM_000548.5(TSC2):c.1924C>A (p.Pro642Thr)
|
rs889366862
|
|
NM_000548.5(TSC2):c.1924C>T (p.Pro642Ser)
|
|
|
NM_000548.5(TSC2):c.1925C>A (p.Pro642His)
|
rs1408228669
|
|
NM_000548.5(TSC2):c.1926C>G (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1926C>T (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1928A>T (p.Tyr643Phe)
|
|
|
NM_000548.5(TSC2):c.1929C>A (p.Tyr643Ter)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1929C>T (p.Tyr643=)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly)
|
rs1567462577
|
|
NM_000548.5(TSC2):c.1932C>A (p.Cys644Ter)
|
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1935C>G (p.Val645=)
|
rs1596342693
|
|
NM_000548.5(TSC2):c.1935C>T (p.Val645=)
|
rs1596342693
|
|
NM_000548.5(TSC2):c.1937G>A (p.Cys646Tyr)
|
rs1555505863
|
|
NM_000548.5(TSC2):c.1938C>T (p.Cys646=)
|
rs745414854
|
|
NM_000548.5(TSC2):c.1939G>C (p.Asp647His)
|
rs45509392
|
|
NM_000548.5(TSC2):c.1939G>T (p.Asp647Tyr)
|
|
|
NM_000548.5(TSC2):c.1940A>C (p.Asp647Ala)
|
rs2151299187
|
|
NM_000548.5(TSC2):c.1940A>G (p.Asp647Gly)
|
|
|
NM_000548.5(TSC2):c.1941C>G (p.Asp647Glu)
|
rs1326318078
|
|
NM_000548.5(TSC2):c.1942T>C (p.Tyr648His)
|
|
|
NM_000548.5(TSC2):c.1943A>C (p.Tyr648Ser)
|
|
|
NM_000548.5(TSC2):c.1945A>T (p.Met649Leu)
|
rs762331610
|
|
NM_000548.5(TSC2):c.1945_1946+4del
|
rs2151299256
|
|
NM_000548.5(TSC2):c.1946+14C>T
|
rs765322549
|
|
NM_000548.5(TSC2):c.1946+15G>T
|
|
|
NM_000548.5(TSC2):c.1946+16C>T
|
rs2151299899
|
|
NM_000548.5(TSC2):c.1946+17C>T
|
|
|
NM_000548.5(TSC2):c.1946+1G>A
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+3A>C
|
rs1596342841
|
|
NM_000548.5(TSC2):c.1946+3A>G
|
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
NM_000548.5(TSC2):c.1946+6C>A
|
rs754069880
|
|
NM_000548.5(TSC2):c.1946+6C>G
|
rs754069880
|
|
NM_000548.5(TSC2):c.1946+6_1946+7del
|
rs2088411660
|
|
NM_000548.5(TSC2):c.1946+7G>C
|
rs759576009
|
|
NM_000548.5(TSC2):c.1946+7G>T
|
rs759576009
|
|
NM_000548.5(TSC2):c.1946+8G>A
|
|
|
NM_000548.5(TSC2):c.1946+9_1946+22del
|
|
|
NM_000548.5(TSC2):c.1947-10_1947-7del
|
rs1596343804
|
|
NM_000548.5(TSC2):c.1947-11_1947-10insA
|
|
|
NM_000548.5(TSC2):c.1947-13C>G
|
rs2151303173
|
|
NM_000548.5(TSC2):c.1947-13C>T
|
rs2151303173
|
|
NM_000548.5(TSC2):c.1947-15C>G
|
|
|
NM_000548.5(TSC2):c.1947-17T>G
|
|
|
NM_000548.5(TSC2):c.1947-18C>T
|
|
|
NM_000548.5(TSC2):c.1947-19G>T
|
|
|
NM_000548.5(TSC2):c.1947-19del
|
rs2151303034
|
|
NM_000548.5(TSC2):c.1947-1G>T
|
rs397515310
|
|
NM_000548.5(TSC2):c.1947-20T>C
|
|
|
NM_000548.5(TSC2):c.1947-2A>C
|
rs45517207
|
|
NM_000548.5(TSC2):c.1947-4G>A
|
rs201633455
|
|
NM_000548.5(TSC2):c.1947-6C>G
|
|
|
NM_000548.5(TSC2):c.1947-7T>G
|
rs45450193
|
|
NM_000548.5(TSC2):c.1947-83G>T
|
rs2151301458
|
|
NM_000548.5(TSC2):c.1947-8T>G
|
|
|
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)
|
rs775845436
|
|
NM_000548.5(TSC2):c.1948G>T (p.Glu650Ter)
|
rs2151303613
|
|
NM_000548.5(TSC2):c.1949A>C (p.Glu650Ala)
|
|
|
NM_000548.5(TSC2):c.194G>A (p.Cys65Tyr)
|
rs1299377997
|
|
NM_000548.5(TSC2):c.1950G>A (p.Glu650=)
|
rs2151303677
|
|
NM_000548.5(TSC2):c.1953A>C (p.Pro651=)
|
rs1051935578
|
|
NM_000548.5(TSC2):c.1954G>A (p.Glu652Lys)
|
rs1555505954
|
|
NM_000548.5(TSC2):c.1955A>G (p.Glu652Gly)
|
|
|
NM_000548.5(TSC2):c.1957A>G (p.Arg653Gly)
|
rs764225717
|
|
NM_000548.5(TSC2):c.1958G>A (p.Arg653Lys)
|
rs876658202
|
|
NM_000548.5(TSC2):c.1958G>C (p.Arg653Thr)
|
rs876658202
|
|
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.195T>C (p.Cys65=)
|
rs764177596
|
|
NM_000548.5(TSC2):c.1960G>A (p.Gly654Ser)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1960G>C (p.Gly654Arg)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1961del (p.Gly654fs)
|
|
|
NM_000548.5(TSC2):c.1962C>T (p.Gly654=)
|
rs1596344030
|
|
NM_000548.5(TSC2):c.1964C>T (p.Ser655Phe)
|
rs1442388532
|
|
NM_000548.5(TSC2):c.1965T>C (p.Ser655=)
|
|
|
NM_000548.5(TSC2):c.1967A>C (p.Glu656Ala)
|
|
|
NM_000548.5(TSC2):c.1967A>G (p.Glu656Gly)
|
rs2088449468
|
|
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del)
|
rs137854104
|
|
NM_000548.5(TSC2):c.1968G>A (p.Glu656=)
|
rs761781650
|
|
NM_000548.5(TSC2):c.1969A>G (p.Lys657Glu)
|
rs45488199
|
|
NM_000548.5(TSC2):c.196G>A (p.Glu66Lys)
|
|
|
NM_000548.5(TSC2):c.1971G>A (p.Lys657=)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1971G>T (p.Lys657Asn)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1972A>G (p.Lys658Glu)
|
rs1596344129
|
|
NM_000548.5(TSC2):c.1974G>A (p.Lys658=)
|
rs1353218608
|
|
NM_000548.5(TSC2):c.1975A>C (p.Thr659Pro)
|
|
|
NM_000548.5(TSC2):c.1975A>G (p.Thr659Ala)
|
rs1398495219
|
|
NM_000548.5(TSC2):c.1975A>T (p.Thr659Ser)
|
|
|
NM_000548.5(TSC2):c.1976C>A (p.Thr659Asn)
|
rs755847664
|
|
NM_000548.5(TSC2):c.1976C>T (p.Thr659Ile)
|
|
|
NM_000548.5(TSC2):c.1978A>G (p.Ser660Gly)
|
|
|
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1979G>C (p.Ser660Thr)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1979G>T (p.Ser660Ile)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1980C>A (p.Ser660Arg)
|
rs959705365
|
|
NM_000548.5(TSC2):c.1980C>G (p.Ser660Arg)
|
|
|
NM_000548.5(TSC2):c.1980C>T (p.Ser660=)
|
rs959705365
|
|
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg)
|
rs137854168
|
|
NM_000548.5(TSC2):c.1981G>T (p.Gly661Cys)
|
|
|
NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs)
|
rs2088453139
|
|
NM_000548.5(TSC2):c.1982G>A (p.Gly661Asp)
|
rs1213719461
|
|
NM_000548.5(TSC2):c.1982G>T (p.Gly661Val)
|
|
|
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)
|
rs137854103
|
|
NM_000548.5(TSC2):c.1984C>G (p.Pro662Ala)
|
rs1309151152
|
|
NM_000548.5(TSC2):c.1985C>A (p.Pro662His)
|
rs2088455520
|
|
NM_000548.5(TSC2):c.1985C>T (p.Pro662Leu)
|
rs2088455520
|
|
NM_000548.5(TSC2):c.1986C>G (p.Pro662=)
|
rs2151305006
|
|
NM_000548.5(TSC2):c.1986C>T (p.Pro662=)
|
|
|
NM_000548.5(TSC2):c.1987del (p.Leu663fs)
|
rs137854310
|
|
NM_000548.5(TSC2):c.1988T>C (p.Leu663Pro)
|
rs1555506026
|
|
NM_000548.5(TSC2):c.1988T>G (p.Leu663Arg)
|
rs1555506026
|
|
NM_000548.5(TSC2):c.198A>C (p.Glu66Asp)
|
|
|
NM_000548.5(TSC2):c.198A>G (p.Glu66=)
|
rs1596245865
|
|
NM_000548.5(TSC2):c.1990T>G (p.Ser664Ala)
|
rs1555506028
|
|
NM_000548.5(TSC2):c.1990del (p.Ser664fs)
|
|
|
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr)
|
rs991714565
|
|
NM_000548.5(TSC2):c.1992T>C (p.Ser664=)
|
rs1459545137
|
|
NM_000548.5(TSC2):c.1992TCC[1] (p.Pro666del)
|
|
|
NM_000548.5(TSC2):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000548.5(TSC2):c.1996C>G (p.Pro666Ala)
|
|
|
NM_000548.5(TSC2):c.1996C>T (p.Pro666Ser)
|
rs2151305388
|
|
NM_000548.5(TSC2):c.1998C>T (p.Pro666=)
|
rs1474891284
|
|
NM_000548.5(TSC2):c.1999A>G (p.Thr667Ala)
|
rs757722513
|
|
NM_000548.5(TSC2):c.199G>T (p.Val67Phe)
|
rs774506901
|
|
NM_000548.5(TSC2):c.1A>G (p.Met1Val)
|
rs1055443730
|
|
NM_000548.5(TSC2):c.2000C>G (p.Thr667Arg)
|
|
|
NM_000548.5(TSC2):c.2000C>T (p.Thr667Ile)
|
rs781533796
|
|
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2001A>T (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2003G>A (p.Gly668Glu)
|
rs1406015247
|
|
NM_000548.5(TSC2):c.2004G>A (p.Gly668=)
|
|
|
NM_000548.5(TSC2):c.2005C>A (p.Pro669Thr)
|
|
|
NM_000548.5(TSC2):c.2006C>A (p.Pro669His)
|
|
|
NM_000548.5(TSC2):c.2006C>G (p.Pro669Arg)
|
|
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
|
NM_000548.5(TSC2):c.2007T>C (p.Pro669=)
|
rs2151305733
|
|
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
|
rs1338802781
|
|
NM_000548.5(TSC2):c.2009del (p.Pro670fs)
|
rs1060500934
|
|
NM_000548.5(TSC2):c.2013C>T (p.Gly671=)
|
rs566848799
|
|
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala)
|
rs1262368552
|
|
NM_000548.5(TSC2):c.2015C>G (p.Pro672Arg)
|
|
|
NM_000548.5(TSC2):c.2015dup (p.Ala673fs)
|
|
|
NM_000548.5(TSC2):c.2016G>A (p.Pro672=)
|
rs774517903
|
|
NM_000548.5(TSC2):c.2016G>C (p.Pro672=)
|
rs774517903
|
|
NM_000548.5(TSC2):c.2016_2030dup (p.Pro674_Ala678dup)
|
rs1430327271
|
|
NM_000548.5(TSC2):c.2017G>T (p.Ala673Ser)
|
|
|
NM_000548.5(TSC2):c.2019G>C (p.Ala673=)
|
|
|
NM_000548.5(TSC2):c.2019G>T (p.Ala673=)
|
rs772993105
|
|
NM_000548.5(TSC2):c.201C>A (p.Val67=)
|
rs45460096
|
|
NM_000548.5(TSC2):c.201C>G (p.Val67=)
|
rs45460096
|
|
NM_000548.5(TSC2):c.201_202delinsTC (p.Ala68Pro)
|
rs1567387058
|
|
NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser)
|
rs760566516
|
|
NM_000548.5(TSC2):c.2021C>T (p.Pro674Leu)
|
|
|
NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT
|
|
|
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr)
|
rs764840082
|
|
NM_000548.5(TSC2):c.2023G>C (p.Ala675Pro)
|
|
|
NM_000548.5(TSC2):c.2023_2024delinsTT (p.Ala675Leu)
|
rs1555506090
|
|
NM_000548.5(TSC2):c.2024C>A (p.Ala675Glu)
|
|
|
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val)
|
|
|
NM_000548.5(TSC2):c.2025A>G (p.Ala675=)
|
rs766113544
|
|
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)
|
rs754556513
|
|
NM_000548.5(TSC2):c.2029C>G (p.Pro677Ala)
|
rs1178654694
|
|
NM_000548.5(TSC2):c.2029C>T (p.Pro677Ser)
|
|
|
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro)
|
rs767626323
|
|
NM_000548.5(TSC2):c.2031C>G (p.Pro677=)
|
rs45517208
|
|
NM_000548.5(TSC2):c.2033C>A (p.Ala678Asp)
|
rs1567464805
|
|
NM_000548.5(TSC2):c.2033C>G (p.Ala678Gly)
|
rs1567464805
|
|
NM_000548.5(TSC2):c.2034C>A (p.Ala678=)
|
|
|
NM_000548.5(TSC2):c.2034C>G (p.Ala678=)
|
rs781740263
|
|
NM_000548.5(TSC2):c.2035G>C (p.Val679Leu)
|
rs746315218
|
|
NM_000548.5(TSC2):c.2035G>T (p.Val679Leu)
|
rs746315218
|
|
NM_000548.5(TSC2):c.2036T>C (p.Val679Ala)
|
|
|
NM_000548.5(TSC2):c.2037G>A (p.Val679=)
|
|
|
NM_000548.5(TSC2):c.2037G>T (p.Val679=)
|
|
|
NM_000548.5(TSC2):c.2038C>G (p.Arg680Gly)
|
rs876658578
|
|
NM_000548.5(TSC2):c.2039G>C (p.Arg680Pro)
|
rs756536921
|
|
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)
|
rs756536921
|
|
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
|
|
|
NM_000548.5(TSC2):c.203C>T (p.Ala68Val)
|
|
|
NM_000548.5(TSC2):c.2040G>A (p.Arg680=)
|
|
|
NM_000548.5(TSC2):c.2040G>T (p.Arg680=)
|
rs1596344740
|
|
NM_000548.5(TSC2):c.2041C>T (p.Leu681=)
|
|
|
NM_000548.5(TSC2):c.2042T>A (p.Leu681Gln)
|
rs878854079
|
|
NM_000548.5(TSC2):c.2044G>T (p.Gly682Trp)
|
rs1432565227
|
|
NM_000548.5(TSC2):c.2045G>A (p.Gly682Glu)
|
rs1567465004
|
|
NM_000548.5(TSC2):c.2046G>T (p.Gly682=)
|
rs749536123
|
|
NM_000548.5(TSC2):c.2048C>A (p.Ser683Tyr)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2048C>G (p.Ser683Cys)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2048C>T (p.Ser683Phe)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2049C>A (p.Ser683=)
|
rs569518378
|
|
NM_000548.5(TSC2):c.2049C>G (p.Ser683=)
|
rs569518378
|
|
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu)
|
rs1555506150
|
|
NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)
|
|
|
NM_000548.5(TSC2):c.2050G>T (p.Val684Leu)
|
rs779275341
|
|
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)
|
rs959165669
|
|
NM_000548.5(TSC2):c.2055C>T (p.Pro685=)
|
|
|
NM_000548.5(TSC2):c.2056T>A (p.Tyr686Asn)
|
rs2151307522
|
|
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)
|
rs137854337
|
|
NM_000548.5(TSC2):c.2057A>C (p.Tyr686Ser)
|
|
|
NM_000548.5(TSC2):c.2057A>G (p.Tyr686Cys)
|
|
|
NM_000548.5(TSC2):c.2057_2068dup (p.Tyr686_Leu689dup)
|
rs2151307509
|
|
NM_000548.5(TSC2):c.2057_2078dup (p.Gln695fs)
|
rs2088476977
|
|
NM_000548.5(TSC2):c.2058C>A (p.Tyr686Ter)
|
rs1186913814
|
|
NM_000548.5(TSC2):c.205A>G (p.Lys69Glu)
|
rs45517095
|
|
NM_000548.5(TSC2):c.2060C>A (p.Ser687Tyr)
|
rs1455799897
|
|
NM_000548.5(TSC2):c.2060C>T (p.Ser687Phe)
|
rs1455799897
|
|
NM_000548.5(TSC2):c.2061C>A (p.Ser687=)
|
rs1596344926
|
|
NM_000548.5(TSC2):c.2061C>G (p.Ser687=)
|
|
|
NM_000548.5(TSC2):c.2062C>T (p.Leu688=)
|
rs1479736808
|
|
NM_000548.5(TSC2):c.2064G>C (p.Leu688=)
|
rs1202311439
|
|
NM_000548.5(TSC2):c.2065C>G (p.Leu689Val)
|
rs1567465268
|
|
NM_000548.5(TSC2):c.2065C>T (p.Leu689Phe)
|
rs1567465268
|
|
NM_000548.5(TSC2):c.2066T>A (p.Leu689His)
|
rs2088480123
|
|
NM_000548.5(TSC2):c.2067C>G (p.Leu689=)
|
|
|
NM_000548.5(TSC2):c.2067C>T (p.Leu689=)
|
rs1060504107
|
|
NM_000548.5(TSC2):c.2068T>G (p.Phe690Val)
|
|
|
NM_000548.5(TSC2):c.206A>G (p.Lys69Arg)
|
|
|
NM_000548.5(TSC2):c.2070C>A (p.Phe690Leu)
|
rs558292668
|
|
NM_000548.5(TSC2):c.2070C>G (p.Phe690Leu)
|
rs558292668
|
|
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly)
|
rs760489473
|
|
NM_000548.5(TSC2):c.2071del (p.Arg691fs)
|
rs137854071
|
|
NM_000548.5(TSC2):c.2072G>A (p.Arg691His)
|
rs370553131
|
|
NM_000548.5(TSC2):c.2073C>A (p.Arg691=)
|
rs45512398
|
|
NM_000548.5(TSC2):c.2074G>C (p.Val692Leu)
|
|
|
NM_000548.5(TSC2):c.2074G>T (p.Val692Phe)
|
rs201769220
|
|
NM_000548.5(TSC2):c.2074_2076dup (p.Val692_Leu693insVal)
|
|
|
NM_000548.5(TSC2):c.2075T>C (p.Val692Ala)
|
|
|
NM_000548.5(TSC2):c.2076C>T (p.Val692=)
|
rs2151308324
|
|
NM_000548.5(TSC2):c.2077C>G (p.Leu693Val)
|
rs1167258871
|
|
NM_000548.5(TSC2):c.2079G>A (p.Leu693=)
|
rs764932531
|
|
NM_000548.5(TSC2):c.2082G>A (p.Leu694=)
|
rs45458592
|
|
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.2086_2089delinsCG (p.Cys696fs)
|
rs1555506201
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2088C>T (p.Cys696=)
|
|
|
NM_000548.5(TSC2):c.2089T>C (p.Leu697=)
|
rs1596345177
|
|
NM_000548.5(TSC2):c.208A>C (p.Thr70Pro)
|
|
|
NM_000548.5(TSC2):c.208del (p.Thr70fs)
|
|
|
NM_000548.5(TSC2):c.2090T>C (p.Leu697Ser)
|
rs2088487335
|
|
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe)
|
rs2151308956
|
|
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu)
|
rs796053510
|
|
NM_000548.5(TSC2):c.2094G>C (p.Lys698Asn)
|
rs752256613
|
|
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)
|
rs45517210
|
|
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)
|
rs1596345229
|
|
NM_000548.5(TSC2):c.2097+10G>A
|
rs1596345324
|
|
NM_000548.5(TSC2):c.2097+10del
|
rs2151309351
|
|
NM_000548.5(TSC2):c.2097+12C>T
|
rs137854029
|
|
NM_000548.5(TSC2):c.2097+12_2097+16dup
|
|
|
NM_000548.5(TSC2):c.2097+13G>T
|
rs367915255
|
|
NM_000548.5(TSC2):c.2097+14G>C
|
|
|
NM_000548.5(TSC2):c.2097+15G>A
|
|
|
NM_000548.5(TSC2):c.2097+16C>T
|
rs2151309631
|
|
NM_000548.5(TSC2):c.2097+17A>G
|
|
|
NM_000548.5(TSC2):c.2097+18G>A
|
rs2151309700
|
|
NM_000548.5(TSC2):c.2097+19G>A
|
|
|
NM_000548.5(TSC2):c.2097+20G>T
|
rs750948161
|
|
NM_000548.5(TSC2):c.2097+2dup
|
rs2088488578
|
|
NM_000548.5(TSC2):c.2097+4A>G
|
rs1567465686
|
|
NM_000548.5(TSC2):c.2097+5G>A
|
rs977777731
|
|
NM_000548.5(TSC2):c.2097+6T>A
|
|
|
NM_000548.5(TSC2):c.2097+6T>C
|
rs762550686
|
|
NM_000548.5(TSC2):c.2097+9G>A
|
rs1350920103
|
|
NM_000548.5(TSC2):c.2098-10C>G
|
rs754375630
|
|
NM_000548.5(TSC2):c.2098-10C>T
|
rs754375630
|
|
NM_000548.5(TSC2):c.2098-12del
|
rs1567466752
|
|
NM_000548.5(TSC2):c.2098-14T>G
|
|
|
NM_000548.5(TSC2):c.2098-15C>G
|
|
|
NM_000548.5(TSC2):c.2098-15C>T
|
|
|
NM_000548.5(TSC2):c.2098-16C>T
|
rs764694797
|
|
NM_000548.5(TSC2):c.2098-17G>A
|
rs759006353
|
|
NM_000548.5(TSC2):c.2098-17G>T
|
|
|
NM_000548.5(TSC2):c.2098-1G>A
|
rs45517212
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098-2A>T
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098-3C>G
|
|
|
NM_000548.5(TSC2):c.2098-3C>T
|
rs876660489
|
|
NM_000548.5(TSC2):c.2098-3dup
|
|
|
NM_000548.5(TSC2):c.2098-4G>A
|
rs1306044216
|
|
NM_000548.5(TSC2):c.2098-5C>G
|
rs369072310
|
|
NM_000548.5(TSC2):c.2098-5C>T
|
rs369072310
|
|
NM_000548.5(TSC2):c.2098-6T>C
|
rs1057523252
|
|
NM_000548.5(TSC2):c.2098-8C>G
|
rs1468788322
|
|
NM_000548.5(TSC2):c.2098-8C>T
|
rs1468788322
|
|
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys)
|
rs45496402
|
|
NM_000548.5(TSC2):c.2098G>T (p.Glu700Ter)
|
|
|
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.209C>G (p.Thr70Ser)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.209C>T (p.Thr70Ile)
|
|
|
NM_000548.5(TSC2):c.20A>C (p.Lys7Thr)
|
rs137854215
|
|
NM_000548.5(TSC2):c.20_21del (p.Lys7fs)
|
rs137854019
|
|
NM_000548.5(TSC2):c.2100G>T (p.Glu700Asp)
|
rs571792874
|
|
NM_000548.5(TSC2):c.2101T>G (p.Ser701Ala)
|
|
|
NM_000548.5(TSC2):c.2102C>G (p.Ser701Cys)
|
rs1044030046
|
|
NM_000548.5(TSC2):c.2102C>T (p.Ser701Phe)
|
rs1044030046
|
|
NM_000548.5(TSC2):c.2104G>T (p.Asp702Tyr)
|
|
|
NM_000548.5(TSC2):c.2105A>T (p.Asp702Val)
|
rs898836681
|
|
NM_000548.5(TSC2):c.2106C>A (p.Asp702Glu)
|
|
|
NM_000548.5(TSC2):c.2106C>G (p.Asp702Glu)
|
rs1396298404
|
|
NM_000548.5(TSC2):c.2106_2108dup (p.Asp702_Trp703insCys)
|
|
|
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)
|
rs45517213
|
|
NM_000548.5(TSC2):c.210C>G (p.Thr70=)
|
rs2084966494
|
|
NM_000548.5(TSC2):c.2112G>A (p.Lys704=)
|
rs1555506423
|
|
NM_000548.5(TSC2):c.2112G>C (p.Lys704Asn)
|
rs1555506423
|
|
NM_000548.5(TSC2):c.2112G>T (p.Lys704Asn)
|
rs1555506423
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2113G>C (p.Val705Leu)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2113G>T (p.Val705Leu)
|
|
|
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2115G>A (p.Val705=)
|
|
|
NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro)
|
|
|
NM_000548.5(TSC2):c.2118G>A (p.Leu706=)
|
rs1596347135
|
|
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu)
|
rs1596347145
|
|
NM_000548.5(TSC2):c.2121G>A (p.Lys707=)
|
rs2151316314
|
|
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)
|
rs778040604
|
|
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro)
|
rs876659689
|
|
NM_000548.5(TSC2):c.2124G>C (p.Leu708=)
|
rs1596347174
|
|
NM_000548.5(TSC2):c.2125G>T (p.Val709Phe)
|
rs1567467135
|
|
NM_000548.5(TSC2):c.2126T>C (p.Val709Ala)
|
rs1326276839
|
|
NM_000548.5(TSC2):c.2126T>G (p.Val709Gly)
|
|
|
NM_000548.5(TSC2):c.2127_2129dup (p.Leu710dup)
|
rs2088566745
|
|
NM_000548.5(TSC2):c.2130G>A (p.Leu710=)
|
rs747122485
|
|
NM_000548.5(TSC2):c.2133C>T (p.Gly711=)
|
rs1060500915
|
|
NM_000548.5(TSC2):c.2136G>A (p.Arg712=)
|
rs995073369
|
|
NM_000548.5(TSC2):c.2137C>G (p.Leu713Val)
|
|
|
NM_000548.5(TSC2):c.2137C>T (p.Leu713=)
|
rs1555506453
|
|
NM_000548.5(TSC2):c.2138T>C (p.Leu713Pro)
|
rs1060500942
|
|
NM_000548.5(TSC2):c.2139G>A (p.Leu713=)
|
|
|
NM_000548.5(TSC2):c.2139G>C (p.Leu713=)
|
rs757293747
|
|
NM_000548.5(TSC2):c.2139G>T (p.Leu713=)
|
rs757293747
|
|
NM_000548.5(TSC2):c.213G>A (p.Lys71=)
|
rs766200310
|
|
NM_000548.5(TSC2):c.213G>C (p.Lys71Asn)
|
|
|
NM_000548.5(TSC2):c.2140C>G (p.Pro714Ala)
|
rs1596347240
|
|
NM_000548.5(TSC2):c.2140C>T (p.Pro714Ser)
|
rs1596347240
|
|
NM_000548.5(TSC2):c.2142T>C (p.Pro714=)
|
|
|
NM_000548.5(TSC2):c.2142T>G (p.Pro714=)
|
|
|
NM_000548.5(TSC2):c.2143G>A (p.Glu715Lys)
|
rs1292305111
|
|
NM_000548.5(TSC2):c.2144A>G (p.Glu715Gly)
|
rs763351805
|
|
NM_000548.5(TSC2):c.2145G>A (p.Glu715=)
|
rs1596347274
|
|
NM_000548.5(TSC2):c.2145G>T (p.Glu715Asp)
|
|
|
NM_000548.5(TSC2):c.2149C>T (p.Leu717=)
|
|
|
NM_000548.5(TSC2):c.214A>G (p.Lys72Glu)
|
rs2084967199
|
|
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)
|
rs45517214
|
|
NM_000548.5(TSC2):c.2151G>A (p.Leu717=)
|
|
|
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2153G>A (p.Arg718His)
|
rs45517215
|
|
NM_000548.5(TSC2):c.2154C>A (p.Arg718=)
|
rs878854081
|
|
NM_000548.5(TSC2):c.2154C>G (p.Arg718=)
|
rs878854081
|
|
NM_000548.5(TSC2):c.2154C>T (p.Arg718=)
|
rs878854081
|
|
NM_000548.5(TSC2):c.2155T>A (p.Tyr719Asn)
|
rs2088573694
|
|
NM_000548.5(TSC2):c.2155T>C (p.Tyr719His)
|
rs2088573694
|
|
NM_000548.5(TSC2):c.2156A>C (p.Tyr719Ser)
|
|
|
NM_000548.5(TSC2):c.2156A>G (p.Tyr719Cys)
|
rs2088573975
|
|
NM_000548.5(TSC2):c.2158A>C (p.Lys720Gln)
|
rs1195091149
|
|
NM_000548.5(TSC2):c.2158A>G (p.Lys720Glu)
|
rs1195091149
|
|
NM_000548.5(TSC2):c.2158A>T (p.Lys720Ter)
|
rs1195091149
|
|
NM_000548.5(TSC2):c.2161G>A (p.Val721Met)
|
rs768261185
|
|
NM_000548.5(TSC2):c.2161G>C (p.Val721Leu)
|
|
|
NM_000548.5(TSC2):c.2162T>C (p.Val721Ala)
|
|
|
NM_000548.5(TSC2):c.2164C>G (p.Leu722Val)
|
|
|
NM_000548.5(TSC2):c.2164C>T (p.Leu722Phe)
|
rs1029969953
|
|
NM_000548.5(TSC2):c.2166C>A (p.Leu722=)
|
|
|
NM_000548.5(TSC2):c.2166dup (p.Ile723fs)
|
rs2151318037
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
NM_000548.5(TSC2):c.2167A>T (p.Ile723Phe)
|
rs764725850
|
|
NM_000548.5(TSC2):c.2169C>T (p.Ile723=)
|
|
|
NM_000548.5(TSC2):c.216A>G (p.Lys72=)
|
rs1201047547
|
|
NM_000548.5(TSC2):c.2170T>C (p.Phe724Leu)
|
rs2088577923
|
|
NM_000548.5(TSC2):c.2170T>G (p.Phe724Val)
|
rs2088577923
|
|
NM_000548.5(TSC2):c.2170_2177del (p.Phe724fs)
|
|
|
NM_000548.5(TSC2):c.2172T>C (p.Phe724=)
|
rs2151318241
|
|
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs)
|
rs137854216
|
|
NM_000548.5(TSC2):c.2174C>A (p.Thr725Asn)
|
rs1567467623
|
|
NM_000548.5(TSC2):c.2174C>T (p.Thr725Ile)
|
rs1567467623
|
|
NM_000548.5(TSC2):c.2175T>G (p.Thr725=)
|
|
|
NM_000548.5(TSC2):c.2177C>A (p.Ser726Tyr)
|
|
|
NM_000548.5(TSC2):c.2177C>T (p.Ser726Phe)
|
rs2088578578
|
|
NM_000548.5(TSC2):c.2178C>G (p.Ser726=)
|
rs1380835459
|
|
NM_000548.5(TSC2):c.2178C>T (p.Ser726=)
|
rs1380835459
|
|
NM_000548.5(TSC2):c.2179C>G (p.Pro727Ala)
|
|
|
NM_000548.5(TSC2):c.2179C>T (p.Pro727Ser)
|
rs2151318416
|
|
NM_000548.5(TSC2):c.217T>C (p.Phe73Leu)
|
rs1596245977
|
|
NM_000548.5(TSC2):c.217T>G (p.Phe73Val)
|
rs1596245977
|
|
NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu)
|
rs767086409
|
|
NM_000548.5(TSC2):c.2180del (p.Pro727fs)
|
rs2088578781
|
|
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe)
|
rs397514908
|
|
NM_000548.5(TSC2):c.2184C>T (p.Cys728=)
|
rs1555506557
|
|
NM_000548.5(TSC2):c.2185A>C (p.Ser729Arg)
|
rs2088581010
|
|
NM_000548.5(TSC2):c.2186G>A (p.Ser729Asn)
|
rs2088581254
|
|
NM_000548.5(TSC2):c.2187T>C (p.Ser729=)
|
|
|
NM_000548.5(TSC2):c.2188G>A (p.Val730Met)
|
rs1555506559
|
|
NM_000548.5(TSC2):c.2188G>T (p.Val730Leu)
|
rs1555506559
|
|
NM_000548.5(TSC2):c.2189T>C (p.Val730Ala)
|
|
|
NM_000548.5(TSC2):c.2190G>C (p.Val730=)
|
|
|
NM_000548.5(TSC2):c.2191G>A (p.Asp731Asn)
|
rs777308285
|
|
NM_000548.5(TSC2):c.2191del (p.Asp731fs)
|
rs2151318827
|
|
NM_000548.5(TSC2):c.2192A>C (p.Asp731Ala)
|
rs2151318889
|
|
NM_000548.5(TSC2):c.2193C>G (p.Asp731Glu)
|
|
|
NM_000548.5(TSC2):c.2193C>T (p.Asp731=)
|
rs760053529
|
|
NM_000548.5(TSC2):c.2194C>A (p.Gln732Lys)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2196G>T (p.Gln732His)
|
rs765646245
|
|
NM_000548.5(TSC2):c.2197C>A (p.Leu733Met)
|
|
|
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)
|
rs397515163
|
|
NM_000548.5(TSC2):c.2197C>T (p.Leu733=)
|
rs397515163
|
|
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)
|
rs45517217
|
|
NM_000548.5(TSC2):c.2203T>C (p.Ser735Pro)
|
rs753059579
|
|
NM_000548.5(TSC2):c.2204C>G (p.Ser735Cys)
|
rs1596347589
|
|
NM_000548.5(TSC2):c.2204C>T (p.Ser735Phe)
|
rs1596347589
|
|
NM_000548.5(TSC2):c.2205T>A (p.Ser735=)
|
rs758782629
|
|
NM_000548.5(TSC2):c.2206G>A (p.Ala736Thr)
|
rs1252599854
|
|
NM_000548.5(TSC2):c.2209C>G (p.Leu737Val)
|
rs1485034650
|
|
NM_000548.5(TSC2):c.2209C>T (p.Leu737Phe)
|
rs1485034650
|
|
NM_000548.5(TSC2):c.2211C>A (p.Leu737=)
|
rs369851248
|
|
NM_000548.5(TSC2):c.2211C>T (p.Leu737=)
|
rs369851248
|
|
NM_000548.5(TSC2):c.2213G>A (p.Cys738Tyr)
|
rs2151319643
|
|
NM_000548.5(TSC2):c.2216C>G (p.Ser739Cys)
|
|
|
NM_000548.5(TSC2):c.2217C>T (p.Ser739=)
|
rs1596347651
|
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
|
NM_000548.5(TSC2):c.2218A>T (p.Met740Leu)
|
rs757345150
|
|
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)
|
rs2084968438
|
|
NM_000548.5(TSC2):c.2220+10C>T
|
|
|
NM_000548.5(TSC2):c.2220+12G>C
|
rs780039835
|
|
NM_000548.5(TSC2):c.2220+12G>T
|
rs780039835
|
|
NM_000548.5(TSC2):c.2220+14C>A
|
|
|
NM_000548.5(TSC2):c.2220+14C>T
|
|
|
NM_000548.5(TSC2):c.2220+17G>C
|
rs768477166
|
|
NM_000548.5(TSC2):c.2220+17G>T
|
|
|
NM_000548.5(TSC2):c.2220+18G>C
|
|
|
NM_000548.5(TSC2):c.2220+1G>T
|
rs137854361
|
|
NM_000548.5(TSC2):c.2220+20del
|
rs1555506624
|
|
NM_000548.5(TSC2):c.2220+2T>C
|
rs397515121
|
|
NM_000548.5(TSC2):c.2220+4C>T
|
rs781186613
|
|
NM_000548.5(TSC2):c.2220+6A>C
|
|
|
NM_000548.5(TSC2):c.2220+7T>C
|
rs1431356866
|
|
NM_000548.5(TSC2):c.2220+8G>T
|
|
|
NM_000548.5(TSC2):c.2220+9G>A
|
|
|
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)
|
rs2151319848
|
|
NM_000548.5(TSC2):c.2220G>C (p.Met740Ile)
|
|
|
NM_000548.5(TSC2):c.2221-10dup
|
rs2151325861
|
|
NM_000548.5(TSC2):c.2221-12T>G
|
|
|
NM_000548.5(TSC2):c.2221-13A>G
|
rs2151325840
|
|
NM_000548.5(TSC2):c.2221-14G>T
|
|
|
NM_000548.5(TSC2):c.2221-15G>A
|
|
|
NM_000548.5(TSC2):c.2221-169C>T
|
|
|
NM_000548.5(TSC2):c.2221-16T>C
|
rs956986385
|
|
NM_000548.5(TSC2):c.2221-19G>T
|
|
|
NM_000548.5(TSC2):c.2221-1G>A
|
rs45517218
|
|
NM_000548.5(TSC2):c.2221-20T>A
|
|
|
NM_000548.5(TSC2):c.2221-20T>C
|
rs2088678037
|
|
NM_000548.5(TSC2):c.2221-20T>G
|
|
|
NM_000548.5(TSC2):c.2221-2A>G
|
rs45502196
|
|
NM_000548.5(TSC2):c.2221-3C>G
|
rs1555506834
|
|
NM_000548.5(TSC2):c.2221-5A>G
|
rs1555506829
|
|
NM_000548.5(TSC2):c.2221-6C>T
|
rs1555506823
|
|
NM_000548.5(TSC2):c.2221-8G>A
|
rs768919244
|
|
NM_000548.5(TSC2):c.2221-9G>T
|
|
|
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2222T>C (p.Leu741Pro)
|
rs2088681390
|
|
NM_000548.5(TSC2):c.2222T>G (p.Leu741Arg)
|
rs2088681390
|
|
NM_000548.5(TSC2):c.2225C>T (p.Ser742Leu)
|
rs45517220
|
|
NM_000548.5(TSC2):c.2226A>G (p.Ser742=)
|
rs1060504097
|
|
NM_000548.5(TSC2):c.2227G>A (p.Gly743Ser)
|
rs1555506852
|
|
NM_000548.5(TSC2):c.2228G>A (p.Gly743Asp)
|
|
|
NM_000548.5(TSC2):c.2229C>T (p.Gly743=)
|
rs1322227597
|
|
NM_000548.5(TSC2):c.222A>G (p.Glu74=)
|
rs2150997246
|
|
NM_000548.5(TSC2):c.2230C>G (p.Pro744Ala)
|
rs1596350020
|
|
NM_000548.5(TSC2):c.2230C>T (p.Pro744Ser)
|
|
|
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg)
|
rs774759789
|
|
NM_000548.5(TSC2):c.2231del (p.Pro744fs)
|
rs397515218
|
|
NM_000548.5(TSC2):c.2232A>C (p.Pro744=)
|
rs1259596608
|
|
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs)
|
rs137854006
|
|
NM_000548.5(TSC2):c.2235G>A (p.Lys745=)
|
rs762162898
|
|
NM_000548.5(TSC2):c.2238A>C (p.Thr746=)
|
rs1060504115
|
|
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met)
|
rs45517221
|
|
NM_000548.5(TSC2):c.223G>C (p.Glu75Gln)
|
rs145470784
|
|
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys)
|
rs1442440961
|
|
NM_000548.5(TSC2):c.2243A>G (p.Glu748Gly)
|
|
|
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp)
|
rs2151326551
|
|
NM_000548.5(TSC2):c.2247G>C (p.Arg749=)
|
|
|
NM_000548.5(TSC2):c.2247G>T (p.Arg749=)
|
rs753723736
|
|
NM_000548.5(TSC2):c.2247_2248delinsAT (p.Leu750Phe)
|
rs2088687656
|
|
NM_000548.5(TSC2):c.225+10T>A
|
rs2150997561
|
|
NM_000548.5(TSC2):c.225+12C>T
|
rs886038352
|
|
NM_000548.5(TSC2):c.225+14G>A
|
|
|
NM_000548.5(TSC2):c.225+14G>T
|
|
|
NM_000548.5(TSC2):c.225+16T>A
|
rs2150997719
|
|
NM_000548.5(TSC2):c.225+16T>C
|
|
|
NM_000548.5(TSC2):c.225+18A>G
|
|
|
NM_000548.5(TSC2):c.225+19G>A
|
rs980875984
|
|
NM_000548.5(TSC2):c.225+19G>C
|
rs980875984
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
NM_000548.5(TSC2):c.225+20C>G
|
rs747834120
|
|
NM_000548.5(TSC2):c.225+20C>T
|
|
|
NM_000548.5(TSC2):c.225+2T>C
|
rs397515105
|
|
NM_000548.5(TSC2):c.225+3A>G
|
rs1060500963
|
|
NM_000548.5(TSC2):c.225+3A>T
|
|
|
NM_000548.5(TSC2):c.225+4G>C
|
|
|
NM_000548.5(TSC2):c.225+7T>C
|
rs1596246066
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2252G>T (p.Arg751Leu)
|
rs749593050
|
|
NM_000548.5(TSC2):c.2254G>A (p.Gly752Ser)
|
rs2151326864
|
|
NM_000548.5(TSC2):c.2256C>A (p.Gly752=)
|
rs778981034
|
|
NM_000548.5(TSC2):c.2258C>T (p.Ala753Val)
|
|
|
NM_000548.5(TSC2):c.2259C>T (p.Ala753=)
|
|
|
NM_000548.5(TSC2):c.226-11G>A
|
|
|
NM_000548.5(TSC2):c.226-14T>A
|
|
|
NM_000548.5(TSC2):c.226-16C>T
|
|
|
NM_000548.5(TSC2):c.226-17C>G
|
|
|
NM_000548.5(TSC2):c.226-17C>T
|
rs1356531469
|
|
NM_000548.5(TSC2):c.226-18C>A
|
|
|
NM_000548.5(TSC2):c.226-18C>T
|
rs2151025462
|
|
NM_000548.5(TSC2):c.226-19T>G
|
rs938983644
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
NM_000548.5(TSC2):c.226-20G>A
|
rs753647216
|
|
NM_000548.5(TSC2):c.226-2A>G
|
rs45517096
|
|
NM_000548.5(TSC2):c.226-3C>T
|
|
|
NM_000548.5(TSC2):c.226-5G>A
|
rs1596258779
|
|
NM_000548.5(TSC2):c.226-5G>C
|
rs1596258779
|
|
NM_000548.5(TSC2):c.226-6T>A
|
|
|
NM_000548.5(TSC2):c.226-7G>C
|
rs1555496912
|
|
NM_000548.5(TSC2):c.226-8G>A
|
rs2085356308
|
|
NM_000548.5(TSC2):c.226-9T>C
|
|
|
NM_000548.5(TSC2):c.2260C>G (p.Pro754Ala)
|
|
|
NM_000548.5(TSC2):c.2260C>T (p.Pro754Ser)
|
rs752603642
|
|
NM_000548.5(TSC2):c.2261C>G (p.Pro754Arg)
|
rs2088690950
|
|
NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)
|
rs2088690950
|
|
NM_000548.5(TSC2):c.2261del (p.Pro754fs)
|
rs137854021
|
|
NM_000548.5(TSC2):c.2262A>G (p.Pro754=)
|
rs2088691180
|
|
NM_000548.5(TSC2):c.2262dup (p.Glu755fs)
|
rs2151327153
|
|
NM_000548.5(TSC2):c.2263G>C (p.Glu755Gln)
|
rs2088691487
|
|
NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs)
|
|
|
NM_000548.5(TSC2):c.2265del (p.Gly756fs)
|
|
|
NM_000548.5(TSC2):c.2266G>A (p.Gly756Ser)
|
|
|
NM_000548.5(TSC2):c.2267G>C (p.Gly756Ala)
|
|
|
NM_000548.5(TSC2):c.2268C>A (p.Gly756=)
|
rs2151327216
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.2271C>T (p.Phe757=)
|
rs1555506918
|
|
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro)
|
rs2151327279
|
|
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe)
|
rs45517223
|
|
NM_000548.5(TSC2):c.2274C>T (p.Ser758=)
|
rs2151327344
|
|
NM_000548.5(TSC2):c.2276G>A (p.Arg759Lys)
|
|
|
NM_000548.5(TSC2):c.2276G>C (p.Arg759Thr)
|
|
|
NM_000548.5(TSC2):c.2279C>G (p.Thr760Ser)
|
|
|
NM_000548.5(TSC2):c.2279C>T (p.Thr760Ile)
|
rs1060500920
|
|
NM_000548.5(TSC2):c.2280T>C (p.Thr760=)
|
rs2088693411
|
|
NM_000548.5(TSC2):c.2283C>T (p.Asp761=)
|
rs2088693660
|
|
NM_000548.5(TSC2):c.2284T>C (p.Leu762=)
|
rs1249640615
|
|
NM_000548.5(TSC2):c.2285T>A (p.Leu762Ter)
|
rs2151327516
|
|
NM_000548.5(TSC2):c.2286G>A (p.Leu762=)
|
|
|
NM_000548.5(TSC2):c.2286G>C (p.Leu762Phe)
|
|
|
NM_000548.5(TSC2):c.2287C>A (p.His763Asn)
|
|
|
NM_000548.5(TSC2):c.2289C>G (p.His763Gln)
|
rs1319959937
|
|
NM_000548.5(TSC2):c.2289C>T (p.His763=)
|
rs1319959937
|
|
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2290C>T (p.Leu764=)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2292G>C (p.Leu764=)
|
|
|
NM_000548.5(TSC2):c.2293G>T (p.Ala765Ser)
|
|
|
NM_000548.5(TSC2):c.2295C>G (p.Ala765=)
|
rs45509500
|
|
NM_000548.5(TSC2):c.2299G>T (p.Val767Phe)
|
|
|
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)
|
rs777459404
|
|
NM_000548.5(TSC2):c.22G>A (p.Asp8Asn)
|
rs1596233815
|
|
NM_000548.5(TSC2):c.22del (p.Asp8fs)
|
rs2150970257
|
|
NM_000548.5(TSC2):c.2301T>A (p.Val767=)
|
rs531724951
|
|
NM_000548.5(TSC2):c.2301T>C (p.Val767=)
|
|
|
NM_000548.5(TSC2):c.2301T>G (p.Val767=)
|
rs531724951
|
|
NM_000548.5(TSC2):c.2303C>T (p.Pro768Leu)
|
rs1555506977
|
|
NM_000548.5(TSC2):c.2304A>G (p.Pro768=)
|
|
|
NM_000548.5(TSC2):c.2307G>A (p.Val769=)
|
|
|
NM_000548.5(TSC2):c.2308C>A (p.Leu770Met)
|
rs762215859
|
|
NM_000548.5(TSC2):c.2309_2315del (p.Leu770fs)
|
|
|
NM_000548.5(TSC2):c.2310G>A (p.Leu770=)
|
|
|
NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser)
|
rs1555506986
|
|
NM_000548.5(TSC2):c.2312C>G (p.Thr771Arg)
|
rs886051790
|
|
NM_000548.5(TSC2):c.2313A>T (p.Thr771=)
|
rs876658215
|
|
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu)
|
rs397514984
|
|
NM_000548.5(TSC2):c.2316A>C (p.Ala772=)
|
rs2088700038
|
|
NM_000548.5(TSC2):c.2316A>G (p.Ala772=)
|
|
|
NM_000548.5(TSC2):c.2319A>C (p.Leu773Phe)
|
rs1359991984
|
|
NM_000548.5(TSC2):c.2319A>G (p.Leu773=)
|
rs1359991984
|
|
NM_000548.5(TSC2):c.231A>C (p.Ala77=)
|
rs2151026046
|
|
NM_000548.5(TSC2):c.231A>G (p.Ala77=)
|
rs2151026046
|
|
NM_000548.5(TSC2):c.2324C>G (p.Ser775Cys)
|
rs2088701360
|
|
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe)
|
rs2088701360
|
|
NM_000548.5(TSC2):c.2325T>C (p.Ser775=)
|
|
|
NM_000548.5(TSC2):c.2326T>A (p.Tyr776Asn)
|
|
|
NM_000548.5(TSC2):c.2326T>C (p.Tyr776His)
|
|
|
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2329C>T (p.His777Tyr)
|
rs1349953143
|
|
NM_000548.5(TSC2):c.2330A>C (p.His777Pro)
|
|
|
NM_000548.5(TSC2):c.2331T>A (p.His777Gln)
|
|
|
NM_000548.5(TSC2):c.2331_2344del (p.His777fs)
|
rs2088702417
|
|
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp)
|
rs1060500946
|
|
NM_000548.5(TSC2):c.2334C>G (p.Asn778Lys)
|
rs1320712673
|
|
NM_000548.5(TSC2):c.2336A>G (p.Tyr779Cys)
|
rs752656474
|
|
NM_000548.5(TSC2):c.2336A>T (p.Tyr779Phe)
|
rs752656474
|
|
NM_000548.5(TSC2):c.2338C>T (p.Leu780=)
|
rs1555507017
|
|
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.2339T>G (p.Leu780Arg)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.233T>A (p.Val78Glu)
|
|
|
NM_000548.5(TSC2):c.2340G>A (p.Leu780=)
|
|
|
NM_000548.5(TSC2):c.2341G>C (p.Asp781His)
|
|
|
NM_000548.5(TSC2):c.2342A>G (p.Asp781Gly)
|
rs2088705306
|
|
NM_000548.5(TSC2):c.2343C>G (p.Asp781Glu)
|
rs1446097378
|
|
NM_000548.5(TSC2):c.2344A>G (p.Lys782Glu)
|
|
|
NM_000548.5(TSC2):c.2345A>G (p.Lys782Arg)
|
rs2151328864
|
|
NM_000548.5(TSC2):c.2346A>T (p.Lys782Asn)
|
|
|
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)
|
rs562945619
|
|
NM_000548.5(TSC2):c.2349del (p.Lys784fs)
|
|
|
NM_000548.5(TSC2):c.2350A>G (p.Lys784Glu)
|
|
|
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)
|
rs751172150
|
|
NM_000548.5(TSC2):c.2351A>C (p.Lys784Thr)
|
rs1489548085
|
|
NM_000548.5(TSC2):c.2352A>G (p.Lys784=)
|
rs1596350666
|
|
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)
|
rs45517226
|
|
NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs)
|
rs1596350698
|
|
NM_000548.5(TSC2):c.2355+12G>A
|
|
|
NM_000548.5(TSC2):c.2355+12G>C
|
rs745425504
|
|
NM_000548.5(TSC2):c.2355+14G>T
|
|
|
NM_000548.5(TSC2):c.2355+15C>G
|
|
|
NM_000548.5(TSC2):c.2355+15C>T
|
|
|
NM_000548.5(TSC2):c.2355+16A>C
|
|
|
NM_000548.5(TSC2):c.2355+17G>A
|
rs896658517
|
|
NM_000548.5(TSC2):c.2355+19A>G
|
|
|
NM_000548.5(TSC2):c.2355+19A>T
|
|
|
NM_000548.5(TSC2):c.2355+1G>A
|
rs45517227
|
|
NM_000548.5(TSC2):c.2355+20C>G
|
|
|
NM_000548.5(TSC2):c.2355+2T>C
|
rs45517228
|
|
NM_000548.5(TSC2):c.2355+2T>G
|
rs45517228
|
|
NM_000548.5(TSC2):c.2355+2_2355+5del
|
rs137854250
|
|
NM_000548.5(TSC2):c.2355+3A>C
|
rs2151329166
|
|
NM_000548.5(TSC2):c.2355+3A>G
|
|
|
NM_000548.5(TSC2):c.2355+3dup
|
|
|
NM_000548.5(TSC2):c.2355+4G>A
|
|
|
NM_000548.5(TSC2):c.2355+5del
|
rs2151329225
|
|
NM_000548.5(TSC2):c.2355+6A>G
|
|
|
NM_000548.5(TSC2):c.2355+6_2355+8del
|
rs1195113840
|
|
NM_000548.5(TSC2):c.2355+7G>A
|
rs999583473
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000548.5(TSC2):c.2356-11G>C
|
|
|
NM_000548.5(TSC2):c.2356-11G>T
|
|
|
NM_000548.5(TSC2):c.2356-12T>C
|
rs1388493955
|
|
NM_000548.5(TSC2):c.2356-12T>G
|
|
|
NM_000548.5(TSC2):c.2356-13C>T
|
rs1388447580
|
|
NM_000548.5(TSC2):c.2356-14C>G
|
|
|
NM_000548.5(TSC2):c.2356-14C>T
|
|
|
NM_000548.5(TSC2):c.2356-15del
|
|
|
NM_000548.5(TSC2):c.2356-16G>A
|
|
|
NM_000548.5(TSC2):c.2356-16G>T
|
|
|
NM_000548.5(TSC2):c.2356-17T>C
|
|
|
NM_000548.5(TSC2):c.2356-17T>G
|
|
|
NM_000548.5(TSC2):c.2356-18dup
|
rs2151345840
|
|
NM_000548.5(TSC2):c.2356-19G>T
|
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-1G>C
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-1G>T
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-20A>G
|
|
|
NM_000548.5(TSC2):c.2356-2A>C
|
rs45517229
|
|
NM_000548.5(TSC2):c.2356-2_2373dup
|
|
|
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
|
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
NM_000548.5(TSC2):c.2356-6C>G
|
rs2151346147
|
|
NM_000548.5(TSC2):c.2356-6C>T
|
rs2151346147
|
|
NM_000548.5(TSC2):c.2356-7C>A
|
|
|
NM_000548.5(TSC2):c.2356-7C>T
|
rs2151346130
|
|
NM_000548.5(TSC2):c.2356-8dup
|
|
|
NM_000548.5(TSC2):c.2356-9C>G
|
rs1334725181
|
|
NM_000548.5(TSC2):c.2356-9_2356-3dup
|
rs2151346107
|
|
NM_000548.5(TSC2):c.2356C>A (p.Arg786Ser)
|
rs767252128
|
|
NM_000548.5(TSC2):c.2357G>T (p.Arg786Leu)
|
rs796053511
|
|
NM_000548.5(TSC2):c.2358C>A (p.Arg786=)
|
rs372834284
|
|
NM_000548.5(TSC2):c.2358C>G (p.Arg786=)
|
rs372834284
|
|
NM_000548.5(TSC2):c.2358_2359del (p.Glu787Aspfs)
|
rs1555507462
|
|
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys)
|
rs45517231
|
|
NM_000548.5(TSC2):c.235G>A (p.Glu79Lys)
|
rs2151026169
|
|
NM_000548.5(TSC2):c.2360A>C (p.Glu787Ala)
|
|
|
NM_000548.5(TSC2):c.2363T>C (p.Met788Thr)
|
|
|
NM_000548.5(TSC2):c.2367C>G (p.Val789=)
|
rs1596356163
|
|
NM_000548.5(TSC2):c.2367C>T (p.Val789=)
|
rs1596356163
|
|
NM_000548.5(TSC2):c.2368_2369delinsGT (p.Tyr790Val)
|
|
|
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)
|
rs1555507478
|
|
NM_000548.5(TSC2):c.236A>C (p.Glu79Ala)
|
|
|
NM_000548.5(TSC2):c.236A>T (p.Glu79Val)
|
rs2085359439
|
|
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2370C>T (p.Tyr790=)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2372G>A (p.Cys791Tyr)
|
|
|
NM_000548.5(TSC2):c.2372G>C (p.Cys791Ser)
|
rs758961134
|
|
NM_000548.5(TSC2):c.2376G>A (p.Leu792=)
|
rs1596356233
|
|
NM_000548.5(TSC2):c.2377G>C (p.Glu793Gln)
|
|
|
NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter)
|
rs1596356248
|
|
NM_000548.5(TSC2):c.237A>T (p.Glu79Asp)
|
rs1567394781
|
|
NM_000548.5(TSC2):c.2381A>G (p.Gln794Arg)
|
rs2151347628
|
|
NM_000548.5(TSC2):c.2382G>A (p.Gln794=)
|
rs778138047
|
|
NM_000548.5(TSC2):c.2384G>A (p.Gly795Asp)
|
rs1555507503
|
|
NM_000548.5(TSC2):c.2384dup (p.Leu796fs)
|
rs2151347763
|
|
NM_000548.5(TSC2):c.2385C>T (p.Gly795=)
|
|
|
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)
|
rs1596356291
|
|
NM_000548.5(TSC2):c.2387T>G (p.Leu796Arg)
|
|
|
NM_000548.5(TSC2):c.2388C>A (p.Leu796=)
|
rs2151348171
|
|
NM_000548.5(TSC2):c.2388C>T (p.Leu796=)
|
|
|
NM_000548.5(TSC2):c.2389A>C (p.Ile797Leu)
|
|
|
NM_000548.5(TSC2):c.2389A>G (p.Ile797Val)
|
rs1240217406
|
|
NM_000548.5(TSC2):c.2389A>T (p.Ile797Phe)
|
rs1240217406
|
|
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)
|
rs2085359793
|
|
NM_000548.5(TSC2):c.2390T>A (p.Ile797Asn)
|
|
|
NM_000548.5(TSC2):c.2390T>C (p.Ile797Thr)
|
rs2088916279
|
|
NM_000548.5(TSC2):c.2391C>T (p.Ile797=)
|
|
|
NM_000548.5(TSC2):c.2394C>T (p.His798=)
|
rs547019464
|
|
NM_000548.5(TSC2):c.2396G>A (p.Arg799His)
|
rs1567474646
|
|
NM_000548.5(TSC2):c.2397C>T (p.Arg799=)
|
rs2151348621
|
|
NM_000548.5(TSC2):c.2399G>A (p.Cys800Tyr)
|
rs746044783
|
|
NM_000548.5(TSC2):c.2399G>C (p.Cys800Ser)
|
rs746044783
|
|
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)
|
rs142580483
|
|
NM_000548.5(TSC2):c.2401G>A (p.Ala801Thr)
|
|
|
NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2405G>C (p.Ser802Thr)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2406C>T (p.Ser802=)
|
|
|
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)
|
rs45517234
|
|
NM_000548.5(TSC2):c.2408A>G (p.Gln803Arg)
|
|
|
NM_000548.5(TSC2):c.2409G>A (p.Gln803=)
|
|
|
NM_000548.5(TSC2):c.2409G>C (p.Gln803His)
|
rs1400548727
|
|
NM_000548.5(TSC2):c.2409G>T (p.Gln803His)
|
rs1400548727
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
NM_000548.5(TSC2):c.2411_2412delinsAA (p.Cys804Ter)
|
rs2151349354
|
|
NM_000548.5(TSC2):c.2412C>A (p.Cys804Ter)
|
rs763123951
|
|
NM_000548.5(TSC2):c.2415C>A (p.Val805=)
|
|
|
NM_000548.5(TSC2):c.2416G>T (p.Val806Leu)
|
|
|
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup)
|
rs1298756950
|
|
NM_000548.5(TSC2):c.2418G>A (p.Val806=)
|
rs2151349705
|
|
NM_000548.5(TSC2):c.241C>T (p.Leu81Phe)
|
|
|
NM_000548.5(TSC2):c.2420C>T (p.Ala807Val)
|
|
|
NM_000548.5(TSC2):c.2421C>T (p.Ala807=)
|
rs1060504089
|
|
NM_000548.5(TSC2):c.2422T>C (p.Leu808=)
|
|
|
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)
|
rs45489791
|
|
NM_000548.5(TSC2):c.2426C>A (p.Ser809Tyr)
|
rs2151350205
|
|
NM_000548.5(TSC2):c.2428A>G (p.Ile810Val)
|
rs1196792438
|
|
NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs)
|
rs878854082
|
|
NM_000548.5(TSC2):c.242T>C (p.Leu81Pro)
|
|
|
NM_000548.5(TSC2):c.2431T>G (p.Cys811Gly)
|
|
|
NM_000548.5(TSC2):c.2433C>T (p.Cys811=)
|
rs1596356520
|
|
NM_000548.5(TSC2):c.2434A>G (p.Ser812Gly)
|
|
|
NM_000548.5(TSC2):c.2435_2545+153delinsTC
|
|
|
NM_000548.5(TSC2):c.2436del (p.Ser812fs)
|
|
|
NM_000548.5(TSC2):c.2437G>T (p.Val813Leu)
|
rs375030314
|
|
NM_000548.5(TSC2):c.2439G>A (p.Val813=)
|
rs2151351167
|
|
NM_000548.5(TSC2):c.243C>G (p.Leu81=)
|
rs751068235
|
|
NM_000548.5(TSC2):c.243C>T (p.Leu81=)
|
|
|
NM_000548.5(TSC2):c.2440G>C (p.Glu814Gln)
|
|
|
NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter)
|
rs45485395
|
|
NM_000548.5(TSC2):c.2441A>C (p.Glu814Ala)
|
|
|
NM_000548.5(TSC2):c.2443A>G (p.Met815Val)
|
|
|
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
|
|
|
NM_000548.5(TSC2):c.2444T>A (p.Met815Lys)
|
|
|
NM_000548.5(TSC2):c.2445dup (p.Pro816fs)
|
rs2151351558
|
|
NM_000548.5(TSC2):c.2446C>A (p.Pro816Thr)
|
rs760265207
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2449G>A (p.Asp817Asn)
|
|
|
NM_000548.5(TSC2):c.244T>C (p.Trp82Arg)
|
rs878854083
|
|
NM_000548.5(TSC2):c.2450A>C (p.Asp817Ala)
|
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
NM_000548.5(TSC2):c.2452dup (p.Ile818fs)
|
rs2088927807
|
|
NM_000548.5(TSC2):c.2453T>A (p.Ile818Asn)
|
rs2151352015
|
|
NM_000548.5(TSC2):c.2453T>C (p.Ile818Thr)
|
rs2151352015
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.2453TCA[4] (p.Ile820_Lys821insIle)
|
|
|
NM_000548.5(TSC2):c.2454C>G (p.Ile818Met)
|
|
|
NM_000548.5(TSC2):c.2455A>G (p.Ile819Val)
|
rs1426302691
|
|
NM_000548.5(TSC2):c.2458A>C (p.Ile820Leu)
|
rs754451657
|
|
NM_000548.5(TSC2):c.2458A>G (p.Ile820Val)
|
rs754451657
|
|
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)
|
rs397514933
|
|
NM_000548.5(TSC2):c.2460C>T (p.Ile820=)
|
rs2151352359
|
|
NM_000548.5(TSC2):c.2464G>A (p.Ala822Thr)
|
rs2151352584
|
|
NM_000548.5(TSC2):c.2466G>C (p.Ala822=)
|
|
|
NM_000548.5(TSC2):c.2469G>A (p.Leu823=)
|
rs2151352856
|
|
NM_000548.5(TSC2):c.2469G>C (p.Leu823=)
|
|
|
NM_000548.5(TSC2):c.2469_2471del (p.Pro824del)
|
rs2088931795
|
|
NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)
|
rs1567394860
|
|
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser)
|
rs1596356675
|
|
NM_000548.5(TSC2):c.2471C>T (p.Pro824Leu)
|
|
|
NM_000548.5(TSC2):c.2472T>C (p.Pro824=)
|
rs1596356689
|
|
NM_000548.5(TSC2):c.2473G>C (p.Val825Leu)
|
rs149860212
|
|
NM_000548.5(TSC2):c.2473G>T (p.Val825Phe)
|
rs149860212
|
|
NM_000548.5(TSC2):c.2475T>C (p.Val825=)
|
|
|
NM_000548.5(TSC2):c.2475T>G (p.Val825=)
|
|
|
NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs)
|
rs2088933078
|
|
NM_000548.5(TSC2):c.2476C>G (p.Leu826Val)
|
rs45517238
|
|
NM_000548.5(TSC2):c.2476C>T (p.Leu826=)
|
rs45517238
|
|
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)
|
rs45517239
|
|
NM_000548.5(TSC2):c.2478G>C (p.Leu826=)
|
rs1398112464
|
|
NM_000548.5(TSC2):c.2479GTG[1] (p.Val828del)
|
rs1596356726
|
|
NM_000548.5(TSC2):c.247A>G (p.Lys83Glu)
|
|
|
NM_000548.5(TSC2):c.2481G>A (p.Val827=)
|
rs1046589212
|
|
NM_000548.5(TSC2):c.2482G>A (p.Val828Met)
|
rs150178524
|
|
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr)
|
rs1555507617
|
|
NM_000548.5(TSC2):c.2488C>T (p.Leu830Phe)
|
rs1596356808
|
|
NM_000548.5(TSC2):c.248del (p.Lys83fs)
|
|
|
NM_000548.5(TSC2):c.2490C>T (p.Leu830=)
|
rs768573698
|
|
NM_000548.5(TSC2):c.2491A>C (p.Thr831Pro)
|
|
|
NM_000548.5(TSC2):c.2492C>A (p.Thr831Lys)
|
rs774380711
|
|
NM_000548.5(TSC2):c.2492dup (p.His832fs)
|
rs2088938668
|
|
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)
|
rs773645613
|
|
NM_000548.5(TSC2):c.2493G>T (p.Thr831=)
|
rs773645613
|
|
NM_000548.5(TSC2):c.2494C>T (p.His832Tyr)
|
rs2088939242
|
|
NM_000548.5(TSC2):c.2495A>T (p.His832Leu)
|
|
|
NM_000548.5(TSC2):c.2497A>G (p.Ile833Val)
|
rs2151354485
|
|
NM_000548.5(TSC2):c.2497A>T (p.Ile833Phe)
|
|
|
NM_000548.5(TSC2):c.2499C>G (p.Ile833Met)
|
|
|
NM_000548.5(TSC2):c.2499C>T (p.Ile833=)
|
|
|
NM_000548.5(TSC2):c.249G>A (p.Lys83=)
|
rs1202653675
|
|
NM_000548.5(TSC2):c.2500T>A (p.Ser834Thr)
|
|
|
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)
|
rs1596356898
|
|
NM_000548.5(TSC2):c.2502A>G (p.Ser834=)
|
rs2151354707
|
|
NM_000548.5(TSC2):c.2502A>T (p.Ser834=)
|
|
|
NM_000548.5(TSC2):c.2503G>T (p.Ala835Ser)
|
rs2151354761
|
|
NM_000548.5(TSC2):c.2505C>T (p.Ala835=)
|
rs1200802987
|
|
NM_000548.5(TSC2):c.2508A>T (p.Thr836=)
|
rs137854242
|
|
NM_000548.5(TSC2):c.250G>A (p.Ala84Thr)
|
|
|
NM_000548.5(TSC2):c.2510C>T (p.Ala837Val)
|
rs139919040
|
|
NM_000548.5(TSC2):c.2515A>C (p.Met839Leu)
|
rs876660457
|
|
NM_000548.5(TSC2):c.2518G>A (p.Ala840Thr)
|
rs2151355372
|
|
NM_000548.5(TSC2):c.251C>A (p.Ala84Glu)
|
rs35660529
|
|
NM_000548.5(TSC2):c.2520C>G (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2523C>A (p.Val841=)
|
rs1364740785
|
|
NM_000548.5(TSC2):c.2523C>G (p.Val841=)
|
rs1364740785
|
|
NM_000548.5(TSC2):c.2524C>T (p.Pro842Ser)
|
|
|
NM_000548.5(TSC2):c.2525C>G (p.Pro842Arg)
|
|
|
NM_000548.5(TSC2):c.2525C>T (p.Pro842Leu)
|
rs2151355682
|
|
NM_000548.5(TSC2):c.2525del (p.Pro842fs)
|
rs137854375
|
|
NM_000548.5(TSC2):c.2527C>T (p.Leu843=)
|
rs2151355813
|
|
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro)
|
rs1057522911
|
|
NM_000548.5(TSC2):c.2529G>C (p.Leu843=)
|
rs759108698
|
|
NM_000548.5(TSC2):c.252G>C (p.Ala84=)
|
|
|
NM_000548.5(TSC2):c.252_304del (p.Val85fs)
|
|
|
NM_000548.5(TSC2):c.2530C>G (p.Leu844Val)
|
rs1596357053
|
|
NM_000548.5(TSC2):c.2530C>T (p.Leu844=)
|
rs1596357053
|
|
NM_000548.5(TSC2):c.2531T>A (p.Leu844Gln)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2537del (p.Phe846fs)
|
|
|
NM_000548.5(TSC2):c.2538C>T (p.Phe846=)
|
rs1360361868
|
|
NM_000548.5(TSC2):c.2539_2540del (p.Leu847fs)
|
rs1060500938
|
|
NM_000548.5(TSC2):c.2539del (p.Leu847fs)
|
rs137854140
|
|
NM_000548.5(TSC2):c.2542T>A (p.Ser848Thr)
|
|
|
NM_000548.5(TSC2):c.2542T>C (p.Ser848Pro)
|
|
|
NM_000548.5(TSC2):c.2543C>G (p.Ser848Cys)
|
rs1060500922
|
|
NM_000548.5(TSC2):c.2544C>A (p.Ser848=)
|
rs2151356741
|
|
NM_000548.5(TSC2):c.2545+10C>G
|
|
|
NM_000548.5(TSC2):c.2545+11G>A
|
rs768787639
|
|
NM_000548.5(TSC2):c.2545+12C>T
|
|
|
NM_000548.5(TSC2):c.2545+13C>T
|
rs905699423
|
|
NM_000548.5(TSC2):c.2545+14C>G
|
|
|
NM_000548.5(TSC2):c.2545+14C>T
|
|
|
NM_000548.5(TSC2):c.2545+16G>A
|
|
|
NM_000548.5(TSC2):c.2545+16G>C
|
|
|
NM_000548.5(TSC2):c.2545+17C>A
|
rs748247724
|
|
NM_000548.5(TSC2):c.2545+18C>T
|
rs771970930
|
|
NM_000548.5(TSC2):c.2545+19T>C
|
rs773100764
|
|
NM_000548.5(TSC2):c.2545+1G>A
|
|
|
NM_000548.5(TSC2):c.2545+20G>C
|
rs1490177129
|
|
NM_000548.5(TSC2):c.2545+2T>C
|
rs397515262
|
|
NM_000548.5(TSC2):c.2545+6T>G
|
rs45517245
|
|
NM_000548.5(TSC2):c.2545+7C>T
|
rs1193769778
|
|
NM_000548.5(TSC2):c.2545+8C>T
|
|
|
NM_000548.5(TSC2):c.2545+9C>T
|
rs369385105
|
|
NM_000548.5(TSC2):c.2545A>C (p.Thr849Pro)
|
|
|
NM_000548.5(TSC2):c.2545A>T (p.Thr849Ser)
|
|
|
NM_000548.5(TSC2):c.2546-10A>T
|
|
|
NM_000548.5(TSC2):c.2546-11C>T
|
|
|
NM_000548.5(TSC2):c.2546-12C>G
|
|
|
NM_000548.5(TSC2):c.2546-13T>G
|
|
|
NM_000548.5(TSC2):c.2546-13dup
|
rs2151379450
|
|
NM_000548.5(TSC2):c.2546-14C>G
|
rs2151379427
|
|
NM_000548.5(TSC2):c.2546-14C>T
|
|
|
NM_000548.5(TSC2):c.2546-15T>A
|
|
|
NM_000548.5(TSC2):c.2546-15T>C
|
rs371256839
|
|
NM_000548.5(TSC2):c.2546-15T>G
|
rs371256839
|
|
NM_000548.5(TSC2):c.2546-15_2546-14insGT
|
|
|
NM_000548.5(TSC2):c.2546-16C>T
|
|
|
NM_000548.5(TSC2):c.2546-16CT[3]
|
|
|
NM_000548.5(TSC2):c.2546-17C>A
|
rs1216321428
|
|
NM_000548.5(TSC2):c.2546-17C>T
|
|
|
NM_000548.5(TSC2):c.2546-17_2546-16dup
|
rs779157020
|
|
NM_000548.5(TSC2):c.2546-19A>G
|
|
|
NM_000548.5(TSC2):c.2546-19_2546-18insGGGTA
|
|
|
NM_000548.5(TSC2):c.2546-19dup
|
|
|
NM_000548.5(TSC2):c.2546-1G>C
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-20_2546-19insGCAGCTCCATTACCCTCTCCATT
|
|
|
NM_000548.5(TSC2):c.2546-2A>G
|
rs45517246
|
|
NM_000548.5(TSC2):c.2546-313_2967-376del
|
|
|
NM_000548.5(TSC2):c.2546-5C>G
|
rs45517247
|
|
NM_000548.5(TSC2):c.2546-6C>A
|
rs372088609
|
|
NM_000548.5(TSC2):c.2546C>T (p.Thr849Ile)
|
|
|
NM_000548.5(TSC2):c.2547T>C (p.Thr849=)
|
rs1596364841
|
|
NM_000548.5(TSC2):c.2548C>G (p.Leu850Val)
|
rs2089256658
|
|
NM_000548.5(TSC2):c.2548del (p.Leu850fs)
|
rs2089256835
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
NM_000548.5(TSC2):c.2550G>A (p.Leu850=)
|
rs781100484
|
|
NM_000548.5(TSC2):c.2552C>G (p.Ala851Gly)
|
|
|
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val)
|
rs1596364874
|
|
NM_000548.5(TSC2):c.2555G>A (p.Arg852Lys)
|
rs2151379894
|
|
NM_000548.5(TSC2):c.2556G>A (p.Arg852=)
|
|
|
NM_000548.5(TSC2):c.2556G>T (p.Arg852Ser)
|
rs1596364897
|
|
NM_000548.5(TSC2):c.2557C>T (p.Leu853=)
|
|
|
NM_000548.5(TSC2):c.2559G>C (p.Leu853=)
|
rs149169643
|
|
NM_000548.5(TSC2):c.2559G>T (p.Leu853=)
|
rs149169643
|
|
NM_000548.5(TSC2):c.2560C>G (p.Pro854Ala)
|
rs1060500959
|
|
NM_000548.5(TSC2):c.2560C>T (p.Pro854Ser)
|
rs1060500959
|
|
NM_000548.5(TSC2):c.2561C>G (p.Pro854Arg)
|
rs1180511535
|
|
NM_000548.5(TSC2):c.2562G>C (p.Pro854=)
|
rs779606786
|
|
NM_000548.5(TSC2):c.2562_2566del (p.His855fs)
|
rs2151380036
|
|
NM_000548.5(TSC2):c.2563C>T (p.His855Tyr)
|
rs2089259816
|
|
NM_000548.5(TSC2):c.2564A>C (p.His855Pro)
|
rs1424946987
|
|
NM_000548.5(TSC2):c.2564A>G (p.His855Arg)
|
rs1424946987
|
|
NM_000548.5(TSC2):c.2565C>A (p.His855Gln)
|
rs143537386
|
|
NM_000548.5(TSC2):c.2566C>T (p.Leu856Phe)
|
rs1596364980
|
|
NM_000548.5(TSC2):c.2566_2567insG (p.Leu856fs)
|
rs2089261042
|
|
NM_000548.5(TSC2):c.2568C>T (p.Leu856=)
|
|
|
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)
|
rs878854084
|
|
NM_000548.5(TSC2):c.2572A>G (p.Arg858Gly)
|
rs2089261730
|
|
NM_000548.5(TSC2):c.2574G>T (p.Arg858Ser)
|
rs1596365022
|
|
NM_000548.5(TSC2):c.2574del (p.Asn859fs)
|
|
|
NM_000548.5(TSC2):c.2575A>T (p.Asn859Tyr)
|
rs2151380450
|
|
NM_000548.5(TSC2):c.2576A>C (p.Asn859Thr)
|
rs878854085
|
|
NM_000548.5(TSC2):c.2577C>G (p.Asn859Lys)
|
|
|
NM_000548.5(TSC2):c.2577C>T (p.Asn859=)
|
rs1555508337
|
|
NM_000548.5(TSC2):c.257C>A (p.Ala86Glu)
|
|
|
NM_000548.5(TSC2):c.2584G>T (p.Ala862Ser)
|
|
|
NM_000548.5(TSC2):c.2584_2585delinsTT (p.Ala862Leu)
|
|
|
NM_000548.5(TSC2):c.2585C>G (p.Ala862Gly)
|
rs45517249
|
|
NM_000548.5(TSC2):c.2586G>C (p.Ala862=)
|
|
|
NM_000548.5(TSC2):c.2589G>A (p.Glu863=)
|
rs1596365136
|
|
NM_000548.5(TSC2):c.2589G>T (p.Glu863Asp)
|
|
|
NM_000548.5(TSC2):c.258G>C (p.Ala86=)
|
rs397514912
|
|
NM_000548.5(TSC2):c.2590C>A (p.Gln864Lys)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2591A>C (p.Gln864Pro)
|
rs2151380945
|
|
NM_000548.5(TSC2):c.2591A>G (p.Gln864Arg)
|
rs2151380945
|
|
NM_000548.5(TSC2):c.2591A>T (p.Gln864Leu)
|
|
|
NM_000548.5(TSC2):c.2592G>A (p.Gln864=)
|
rs763099064
|
|
NM_000548.5(TSC2):c.2596G>A (p.Ala866Thr)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2597C>T (p.Ala866Val)
|
|
|
NM_000548.5(TSC2):c.2598C>A (p.Ala866=)
|
rs1395372159
|
|
NM_000548.5(TSC2):c.2599A>G (p.Ser867Gly)
|
rs1596365202
|
|
NM_000548.5(TSC2):c.2599dup (p.Ser867fs)
|
|
|
NM_000548.5(TSC2):c.2600G>A (p.Ser867Asn)
|
rs751702841
|
|
NM_000548.5(TSC2):c.2600G>T (p.Ser867Ile)
|
rs751702841
|
|
NM_000548.5(TSC2):c.2602G>A (p.Val868Met)
|
rs2089267679
|
|
NM_000548.5(TSC2):c.2603T>C (p.Val868Ala)
|
rs2089267892
|
|
NM_000548.5(TSC2):c.2606T>A (p.Phe869Tyr)
|
rs2151381329
|
|
NM_000548.5(TSC2):c.2606T>G (p.Phe869Cys)
|
rs2151381329
|
|
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu)
|
rs750336814
|
|
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2608G>T (p.Ala870Ser)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2611A>G (p.Ile871Val)
|
|
|
NM_000548.5(TSC2):c.2612T>C (p.Ile871Thr)
|
rs2089269466
|
|
NM_000548.5(TSC2):c.2613C>T (p.Ile871=)
|
rs1555508408
|
|
NM_000548.5(TSC2):c.2616C>A (p.Ser872=)
|
|
|
NM_000548.5(TSC2):c.2616C>T (p.Ser872=)
|
rs779843919
|
|
NM_000548.5(TSC2):c.2616_2617delinsG (p.Leu873fs)
|
rs2089270984
|
|
NM_000548.5(TSC2):c.2617C>G (p.Leu873Val)
|
rs1555508418
|
|
NM_000548.5(TSC2):c.2617C>T (p.Leu873=)
|
rs1555508418
|
|
NM_000548.5(TSC2):c.2618_2620del (p.Leu873del)
|
rs2089271727
|
|
NM_000548.5(TSC2):c.2619G>A (p.Leu873=)
|
|
|
NM_000548.5(TSC2):c.2619G>C (p.Leu873=)
|
|
|
NM_000548.5(TSC2):c.261T>A (p.Asp87Glu)
|
rs1555496967
|
|
NM_000548.5(TSC2):c.261T>C (p.Asp87=)
|
rs1555496967
|
|
NM_000548.5(TSC2):c.2621C>G (p.Pro874Arg)
|
rs138527121
|
|
NM_000548.5(TSC2):c.2622G>T (p.Pro874=)
|
rs141486629
|
|
NM_000548.5(TSC2):c.2623T>C (p.Tyr875His)
|
|
|
NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp)
|
rs2089272680
|
|
NM_000548.5(TSC2):c.2627C>G (p.Thr876Ser)
|
rs768490850
|
|
NM_000548.5(TSC2):c.2628C>A (p.Thr876=)
|
|
|
NM_000548.5(TSC2):c.2629_2631del (p.Asn877del)
|
rs2089273762
|
|
NM_000548.5(TSC2):c.262C>G (p.Leu88Val)
|
|
|
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser)
|
rs1567482364
|
|
NM_000548.5(TSC2):c.2631C>G (p.Asn877Lys)
|
rs45517251
|
|
NM_000548.5(TSC2):c.2632C>G (p.Pro878Ala)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2633C>A (p.Pro878His)
|
rs1060500925
|
|
NM_000548.5(TSC2):c.2633C>T (p.Pro878Leu)
|
|
|
NM_000548.5(TSC2):c.2634C>T (p.Pro878=)
|
|
|
NM_000548.5(TSC2):c.2634del (p.Ser879fs)
|
|
|
NM_000548.5(TSC2):c.2635T>C (p.Ser879Pro)
|
rs2151382181
|
|
NM_000548.5(TSC2):c.2636C>T (p.Ser879Phe)
|
rs1555508444
|
|
NM_000548.5(TSC2):c.2637C>T (p.Ser879=)
|
rs1596365444
|
|
NM_000548.5(TSC2):c.2637dup (p.Lys880fs)
|
|
|
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu)
|
rs2151382293
|
|
NM_000548.5(TSC2):c.2639+10C>A
|
rs137854378
|
|
NM_000548.5(TSC2):c.2639+11G>C
|
|
|
NM_000548.5(TSC2):c.2639+12C>T
|
rs1400051232
|
|
NM_000548.5(TSC2):c.2639+14C>G
|
rs1057520927
|
|
NM_000548.5(TSC2):c.2639+15C>G
|
rs397515299
|
|
NM_000548.5(TSC2):c.2639+15del
|
|
|
NM_000548.5(TSC2):c.2639+16A>C
|
|
|
NM_000548.5(TSC2):c.2639+16A>G
|
|
|
NM_000548.5(TSC2):c.2639+18G>A
|
|
|
NM_000548.5(TSC2):c.2639+19C>G
|
|
|
NM_000548.5(TSC2):c.2639+19C>T
|
rs2151382809
|
|
NM_000548.5(TSC2):c.2639+1G>A
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+1G>C
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+20C>A
|
rs764337376
|
|
NM_000548.5(TSC2):c.2639+20C>G
|
|
|
NM_000548.5(TSC2):c.2639+21dup
|
rs2151382834
|
|
NM_000548.5(TSC2):c.2639+2dup
|
rs2089276740
|
|
NM_000548.5(TSC2):c.2639+44C>G
|
rs1800715
|
|
NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT
|
rs2089276880
|
|
NM_000548.5(TSC2):c.2639+5G>A
|
rs397515171
|
|
NM_000548.5(TSC2):c.2639+6T>C
|
rs2151382514
|
|
NM_000548.5(TSC2):c.2639+7G>A
|
|
|
NM_000548.5(TSC2):c.2639+8G>A
|
rs777033931
|
|
NM_000548.5(TSC2):c.2639+8G>C
|
rs777033931
|
|
NM_000548.5(TSC2):c.2639A>C (p.Lys880Thr)
|
|
|
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg)
|
rs2089276233
|
|
NM_000548.5(TSC2):c.2640-12T>G
|
|
|
NM_000548.5(TSC2):c.2640-13del
|
rs1877435397
|
|
NM_000548.5(TSC2):c.2640-14C>G
|
rs2089304828
|
|
NM_000548.5(TSC2):c.2640-14C>T
|
rs2089304828
|
|
NM_000548.5(TSC2):c.2640-15C>G
|
rs1011282445
|
|
NM_000548.5(TSC2):c.2640-16C>A
|
|
|
NM_000548.5(TSC2):c.2640-17C>T
|
|
|
NM_000548.5(TSC2):c.2640-1G>A
|
rs397515203
|
|
NM_000548.5(TSC2):c.2640-20_2640-19insT
|
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.2640-4T>C
|
rs1596366489
|
|
NM_000548.5(TSC2):c.2640-4_2640-3del
|
rs1555508570
|
|
NM_000548.5(TSC2):c.2640-5C>G
|
rs753781434
|
|
NM_000548.5(TSC2):c.2640-5C>T
|
rs753781434
|
|
NM_000548.5(TSC2):c.2640-7A>C
|
rs1555508569
|
|
NM_000548.5(TSC2):c.2640-7A>G
|
rs1555508569
|
|
NM_000548.5(TSC2):c.2640-7A>T
|
rs1555508569
|
|
NM_000548.5(TSC2):c.2640-8C>T
|
rs766389789
|
|
NM_000548.5(TSC2):c.2646T>G (p.Asn882Lys)
|
rs2151386177
|
|
NM_000548.5(TSC2):c.2647C>G (p.Gln883Glu)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
|
|
|
NM_000548.5(TSC2):c.2649_2651dup (p.Tyr884Ter)
|
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
NM_000548.5(TSC2):c.264G>C (p.Leu88=)
|
|
|
NM_000548.5(TSC2):c.264G>T (p.Leu88=)
|
|
|
NM_000548.5(TSC2):c.2651A>G (p.Tyr884Cys)
|
rs754849580
|
|
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=)
|
rs45489200
|
|
NM_000548.5(TSC2):c.2653A>G (p.Ile885Val)
|
rs1555508581
|
|
NM_000548.5(TSC2):c.2655C>A (p.Ile885=)
|
rs1060504116
|
|
NM_000548.5(TSC2):c.2655C>G (p.Ile885Met)
|
rs1060504116
|
|
NM_000548.5(TSC2):c.2656G>A (p.Val886Met)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2656G>T (p.Val886Leu)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2658G>A (p.Val886=)
|
rs1035837417
|
|
NM_000548.5(TSC2):c.265T>C (p.Leu89=)
|
|
|
NM_000548.5(TSC2):c.2661_2664del (p.Cys887fs)
|
rs1060500914
|
|
NM_000548.5(TSC2):c.2661_2699del (p.Leu888_Cys900del)
|
rs1596366593
|
|
NM_000548.5(TSC2):c.2662C>A (p.Leu888Met)
|
|
|
NM_000548.5(TSC2):c.2662C>G (p.Leu888Val)
|
|
|
NM_000548.5(TSC2):c.2664G>T (p.Leu888=)
|
|
|
NM_000548.5(TSC2):c.2665G>A (p.Ala889Thr)
|
rs397515054
|
|
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.2667C>T (p.Ala889=)
|
rs774740459
|
|
NM_000548.5(TSC2):c.2671C>T (p.His891Tyr)
|
rs2089316693
|
|
NM_000548.5(TSC2):c.2676C>A (p.Val892=)
|
|
|
NM_000548.5(TSC2):c.2677A>T (p.Ile893Leu)
|
rs2151387209
|
|
NM_000548.5(TSC2):c.2678T>A (p.Ile893Lys)
|
|
|
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr)
|
rs796053491
|
|
NM_000548.5(TSC2):c.2678_2679del (p.Ile893fs)
|
|
|
NM_000548.5(TSC2):c.2679A>G (p.Ile893Met)
|
|
|
NM_000548.5(TSC2):c.267G>T (p.Leu89Phe)
|
|
|
NM_000548.5(TSC2):c.267_268delinsTT (p.Leu89_Gln90delinsPheTer)
|
|
|
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)
|
rs1379507306
|
|
NM_000548.5(TSC2):c.2682C>T (p.Ala894=)
|
rs45517253
|
|
NM_000548.5(TSC2):c.2683A>G (p.Met895Val)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2683A>T (p.Met895Leu)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2686T>C (p.Trp896Arg)
|
rs1567483855
|
|
NM_000548.5(TSC2):c.2687_2690dup (p.Phe897fs)
|
rs2151387560
|
|
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>A (p.Phe897Tyr)
|
rs45517255
|
|
NM_000548.5(TSC2):c.2690del (p.Phe897fs)
|
|
|
NM_000548.5(TSC2):c.2695A>C (p.Arg899=)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2695A>G (p.Arg899Gly)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2696G>A (p.Arg899Lys)
|
|
|
NM_000548.5(TSC2):c.2698T>C (p.Cys900Arg)
|
|
|
NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly)
|
|
|
NM_000548.5(TSC2):c.2699G>A (p.Cys900Tyr)
|
rs2089323124
|
|
NM_000548.5(TSC2):c.269A>T (p.Gln90Leu)
|
|
|
NM_000548.5(TSC2):c.269_277del (p.Gln90_Glu92del)
|
|
|
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.2702G>T (p.Arg901Leu)
|
rs1273957629
|
|
NM_000548.5(TSC2):c.2703C>T (p.Arg901=)
|
|
|
NM_000548.5(TSC2):c.2704C>T (p.Leu902=)
|
rs756696525
|
|
NM_000548.5(TSC2):c.2706G>A (p.Leu902=)
|
rs2151388216
|
|
NM_000548.5(TSC2):c.2707C>A (p.Pro903Thr)
|
rs2089324682
|
|
NM_000548.5(TSC2):c.2707C>T (p.Pro903Ser)
|
rs2089324682
|
|
NM_000548.5(TSC2):c.2708C>T (p.Pro903Leu)
|
|
|
NM_000548.5(TSC2):c.2709C>A (p.Pro903=)
|
rs780558633
|
|
NM_000548.5(TSC2):c.2709C>T (p.Pro903=)
|
rs780558633
|
|
NM_000548.5(TSC2):c.270G>T (p.Gln90His)
|
|
|
NM_000548.5(TSC2):c.2710T>G (p.Phe904Val)
|
rs2151388349
|
|
NM_000548.5(TSC2):c.2711T>C (p.Phe904Ser)
|
rs2089325564
|
|
NM_000548.5(TSC2):c.2712C>A (p.Phe904Leu)
|
rs137920189
|
|
NM_000548.5(TSC2):c.2712C>T (p.Phe904=)
|
rs137920189
|
|
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2716A>G (p.Lys906Glu)
|
|
|
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.2720A>G (p.Asp907Gly)
|
rs2151388705
|
|
NM_000548.5(TSC2):c.2721T>A (p.Asp907Glu)
|
rs2089328474
|
|
NM_000548.5(TSC2):c.2722T>C (p.Phe908Leu)
|
|
|
NM_000548.5(TSC2):c.2724dup (p.Val909fs)
|
|
|
NM_000548.5(TSC2):c.2725G>A (p.Val909Ile)
|
|
|
NM_000548.5(TSC2):c.2726T>A (p.Val909Asp)
|
|
|
NM_000548.5(TSC2):c.2727C>G (p.Val909=)
|
rs2151388902
|
|
NM_000548.5(TSC2):c.2727C>T (p.Val909=)
|
rs2151388902
|
|
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser)
|
rs1319146226
|
|
NM_000548.5(TSC2):c.2729C>G (p.Pro910Arg)
|
|
|
NM_000548.5(TSC2):c.2729C>T (p.Pro910Leu)
|
|
|
NM_000548.5(TSC2):c.2729_2733del (p.Pro910fs)
|
|
|
NM_000548.5(TSC2):c.2732T>C (p.Phe911Ser)
|
rs774758044
|
|
NM_000548.5(TSC2):c.2733C>T (p.Phe911=)
|
rs1596367012
|
|
NM_000548.5(TSC2):c.2733del (p.Phe911fs)
|
rs137854328
|
|
NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr)
|
|
|
NM_000548.5(TSC2):c.2737A>C (p.Thr913Pro)
|
|
|
NM_000548.5(TSC2):c.2737A>T (p.Thr913Ser)
|
rs772378578
|
|
NM_000548.5(TSC2):c.2738C>G (p.Thr913Ser)
|
rs2151389251
|
|
NM_000548.5(TSC2):c.2738C>T (p.Thr913Ile)
|
|
|
NM_000548.5(TSC2):c.2739T>C (p.Thr913=)
|
rs773285889
|
|
NM_000548.5(TSC2):c.273G>T (p.Pro91=)
|
rs772296140
|
|
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln)
|
rs1422374195
|
|
NM_000548.5(TSC2):c.2740_2741delinsG (p.Lys914fs)
|
rs2089331902
|
|
NM_000548.5(TSC2):c.2742+10G>A
|
rs2151389563
|
|
NM_000548.5(TSC2):c.2742+11G>A
|
rs1256570311
|
|
NM_000548.5(TSC2):c.2742+12G>A
|
rs2089335458
|
|
NM_000548.5(TSC2):c.2742+16G>A
|
|
|
NM_000548.5(TSC2):c.2742+16G>T
|
|
|
NM_000548.5(TSC2):c.2742+1G>A
|
rs45517262
|
|
NM_000548.5(TSC2):c.2742+20A>C
|
rs1057521395
|
|
NM_000548.5(TSC2):c.2742+20A>G
|
rs1057521395
|
|
NM_000548.5(TSC2):c.2742+3G>C
|
rs373935836
|
|
NM_000548.5(TSC2):c.2742+3_2742+4insATGGCTGTG
|
|
|
NM_000548.5(TSC2):c.2742+4G>T
|
rs587781683
|
|
NM_000548.5(TSC2):c.2742+5G>A
|
rs397515076
|
|
NM_000548.5(TSC2):c.2742+5G>C
|
|
|
NM_000548.5(TSC2):c.2742+5dup
|
|
|
NM_000548.5(TSC2):c.2742+6C>G
|
rs377568673
|
|
NM_000548.5(TSC2):c.2742+7T>C
|
rs2151389494
|
|
NM_000548.5(TSC2):c.2742+8C>G
|
rs1596367157
|
|
NM_000548.5(TSC2):c.2742+8C>T
|
rs1596367157
|
|
NM_000548.5(TSC2):c.2743-10A>C
|
|
|
NM_000548.5(TSC2):c.2743-10A>G
|
rs1060504094
|
|
NM_000548.5(TSC2):c.2743-11C>A
|
|
|
NM_000548.5(TSC2):c.2743-11C>G
|
rs137854426
|
|
NM_000548.5(TSC2):c.2743-13C>G
|
rs2089396453
|
|
NM_000548.5(TSC2):c.2743-13C>T
|
|
|
NM_000548.5(TSC2):c.2743-15T>C
|
rs2089396082
|
|
NM_000548.5(TSC2):c.2743-17_2743-10del
|
rs1555508844
|
|
NM_000548.5(TSC2):c.2743-17_2744del
|
|
|
NM_000548.5(TSC2):c.2743-18G>A
|
rs199539512
|
|
NM_000548.5(TSC2):c.2743-18G>T
|
rs199539512
|
|
NM_000548.5(TSC2):c.2743-19G>A
|
rs539121865
|
|
NM_000548.5(TSC2):c.2743-19G>C
|
rs539121865
|
|
NM_000548.5(TSC2):c.2743-19G>T
|
|
|
NM_000548.5(TSC2):c.2743-1G>A
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1G>C
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1G>T
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1_2755dup
|
|
|
NM_000548.5(TSC2):c.2743-20G>A
|
rs2089393160
|
|
NM_000548.5(TSC2):c.2743-20_2743-12del
|
|
|
NM_000548.5(TSC2):c.2743-21_2743-20del
|
|
|
NM_000548.5(TSC2):c.2743-3C>T
|
|
|
NM_000548.5(TSC2):c.2743-4C>A
|
rs1258692002
|
|
NM_000548.5(TSC2):c.2743-7C>A
|
|
|
NM_000548.5(TSC2):c.2743-7C>T
|
rs566118686
|
|
NM_000548.5(TSC2):c.2743-7_2743-6del
|
rs1208047924
|
|
NM_000548.5(TSC2):c.2743-8T>C
|
|
|
NM_000548.5(TSC2):c.2743-9C>G
|
rs397515319
|
|
NM_000548.5(TSC2):c.2743G>A (p.Gly915Ser)
|
|
|
NM_000548.5(TSC2):c.2744G>T (p.Gly915Val)
|
|
|
NM_000548.5(TSC2):c.2745C>T (p.Gly915=)
|
rs2151393775
|
|
NM_000548.5(TSC2):c.2746C>A (p.Leu916Met)
|
rs137854274
|
|
NM_000548.5(TSC2):c.2746C>T (p.Leu916=)
|
rs137854274
|
|
NM_000548.5(TSC2):c.2746del (p.Leu916fs)
|
|
|
NM_000548.5(TSC2):c.2750G>C (p.Arg917Pro)
|
rs397515046
|
|
NM_000548.5(TSC2):c.2751G>A (p.Arg917=)
|
rs1555508897
|
|
NM_000548.5(TSC2):c.2751G>T (p.Arg917=)
|
|
|
NM_000548.5(TSC2):c.2754C>T (p.Ser918=)
|
|
|
NM_000548.5(TSC2):c.2755A>G (p.Asn919Asp)
|
|
|
NM_000548.5(TSC2):c.2756A>T (p.Asn919Ile)
|
rs780057014
|
|
NM_000548.5(TSC2):c.2758G>A (p.Val920Ile)
|
rs2151394156
|
|
NM_000548.5(TSC2):c.2760C>T (p.Val920=)
|
rs149490538
|
|
NM_000548.5(TSC2):c.2761C>T (p.Leu921Phe)
|
rs201835391
|
|
NM_000548.5(TSC2):c.2763C>A (p.Leu921=)
|
|
|
NM_000548.5(TSC2):c.2763C>G (p.Leu921=)
|
rs771817176
|
|
NM_000548.5(TSC2):c.2763C>T (p.Leu921=)
|
rs771817176
|
|
NM_000548.5(TSC2):c.2763_2765del (p.Leu922del)
|
rs2151394339
|
|
NM_000548.5(TSC2):c.2764T>G (p.Leu922Val)
|
rs2089404994
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
NM_000548.5(TSC2):c.2765T>A (p.Leu922Ter)
|
|
|
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe)
|
rs587778731
|
|
NM_000548.5(TSC2):c.276G>A (p.Glu92=)
|
rs1271369775
|
|
NM_000548.5(TSC2):c.276G>T (p.Glu92Asp)
|
|
|
NM_000548.5(TSC2):c.2772T>C (p.Phe924=)
|
|
|
NM_000548.5(TSC2):c.2772del (p.Phe924fs)
|
rs1555508938
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
NM_000548.5(TSC2):c.2775T>A (p.Asp925Glu)
|
|
|
NM_000548.5(TSC2):c.2775T>C (p.Asp925=)
|
rs1596369419
|
|
NM_000548.5(TSC2):c.2776G>T (p.Asp926Tyr)
|
rs766039435
|
|
NM_000548.5(TSC2):c.2779A>C (p.Thr927Pro)
|
rs1420034406
|
|
NM_000548.5(TSC2):c.2780C>G (p.Thr927Ser)
|
|
|
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile)
|
rs144329595
|
|
NM_000548.5(TSC2):c.2781C>A (p.Thr927=)
|
rs376275903
|
|
NM_000548.5(TSC2):c.2782C>G (p.Pro928Ala)
|
|
|
NM_000548.5(TSC2):c.2783C>G (p.Pro928Arg)
|
rs2151394997
|
|
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)
|
rs45517267
|
|
NM_000548.5(TSC2):c.2786A>G (p.Glu929Gly)
|
rs2151395129
|
|
NM_000548.5(TSC2):c.2787G>A (p.Glu929=)
|
rs968144525
|
|
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp)
|
rs968144525
|
|
NM_000548.5(TSC2):c.2788A>G (p.Lys930Glu)
|
rs1596369527
|
|
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)
|
rs1060500935
|
|
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)
|
rs1222477746
|
|
NM_000548.5(TSC2):c.2790G>A (p.Lys930=)
|
rs2151395271
|
|
NM_000548.5(TSC2):c.2790_2793del (p.Asp931fs)
|
|
|
NM_000548.5(TSC2):c.2792A>G (p.Asp931Gly)
|
rs2089411255
|
|
NM_000548.5(TSC2):c.2793C>T (p.Asp931=)
|
rs2151395350
|
|
NM_000548.5(TSC2):c.2794A>G (p.Ser932Gly)
|
|
|
NM_000548.5(TSC2):c.2796C>T (p.Ser932=)
|
rs2151395410
|
|
NM_000548.5(TSC2):c.27A>C (p.Ser9=)
|
|
|
NM_000548.5(TSC2):c.27A>G (p.Ser9=)
|
rs1555494555
|
|
NM_000548.5(TSC2):c.2802G>A (p.Arg934=)
|
rs2151395548
|
|
NM_000548.5(TSC2):c.2803G>T (p.Ala935Ser)
|
rs979456797
|
|
NM_000548.5(TSC2):c.2804C>A (p.Ala935Asp)
|
rs1555508975
|
|
NM_000548.5(TSC2):c.2804C>T (p.Ala935Val)
|
rs1555508975
|
|
NM_000548.5(TSC2):c.2805C>G (p.Ala935=)
|
rs2151395702
|
|
NM_000548.5(TSC2):c.2806C>T (p.Arg936Trp)
|
rs2151395746
|
|
NM_000548.5(TSC2):c.2806del (p.Arg936fs)
|
|
|
NM_000548.5(TSC2):c.2808G>C (p.Arg936=)
|
|
|
NM_000548.5(TSC2):c.2811T>C (p.Ser937=)
|
|
|
NM_000548.5(TSC2):c.2812A>C (p.Thr938Pro)
|
rs1567486660
|
|
NM_000548.5(TSC2):c.2813C>T (p.Thr938Ile)
|
|
|
NM_000548.5(TSC2):c.2817T>A (p.Ser939Arg)
|
rs2151396025
|
|
NM_000548.5(TSC2):c.2818C>G (p.Leu940Val)
|
|
|
NM_000548.5(TSC2):c.2818C>T (p.Leu940Phe)
|
rs1378325757
|
|
NM_000548.5(TSC2):c.281C>G (p.Pro94Arg)
|
|
|
NM_000548.5(TSC2):c.2820C>G (p.Leu940=)
|
rs876659493
|
|
NM_000548.5(TSC2):c.2820C>T (p.Leu940=)
|
rs876659493
|
|
NM_000548.5(TSC2):c.2822A>C (p.Asn941Thr)
|
rs2089415203
|
|
NM_000548.5(TSC2):c.2822A>G (p.Asn941Ser)
|
|
|
NM_000548.5(TSC2):c.2823C>G (p.Asn941Lys)
|
|
|
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)
|
rs45517270
|
|
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly)
|
rs1018951391
|
|
NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter)
|
rs1596369682
|
|
NM_000548.5(TSC2):c.282G>T (p.Pro94=)
|
rs145624233
|
|
NM_000548.5(TSC2):c.2832C>A (p.Pro944=)
|
rs2151396371
|
|
NM_000548.5(TSC2):c.2832C>G (p.Pro944=)
|
rs2151396371
|
|
NM_000548.5(TSC2):c.2832C>T (p.Pro944=)
|
rs2151396371
|
|
NM_000548.5(TSC2):c.2832del (p.Lys945fs)
|
|
|
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)
|
rs886051791
|
|
NM_000548.5(TSC2):c.2835G>A (p.Lys945=)
|
rs780292534
|
|
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly)
|
rs2151396480
|
|
NM_000548.5(TSC2):c.2837+10G>T
|
rs1232454175
|
|
NM_000548.5(TSC2):c.2837+13G>C
|
rs2089421033
|
|
NM_000548.5(TSC2):c.2837+14G>A
|
|
|
NM_000548.5(TSC2):c.2837+14G>T
|
rs975343086
|
|
NM_000548.5(TSC2):c.2837+15G>A
|
|
|
NM_000548.5(TSC2):c.2837+15G>C
|
|
|
NM_000548.5(TSC2):c.2837+16G>C
|
|
|
NM_000548.5(TSC2):c.2837+16G>T
|
rs397515095
|
|
NM_000548.5(TSC2):c.2837+16dup
|
|
|
NM_000548.5(TSC2):c.2837+17T>C
|
|
|
NM_000548.5(TSC2):c.2837+18G>A
|
|
|
NM_000548.5(TSC2):c.2837+1G>A
|
rs45517271
|
|
NM_000548.5(TSC2):c.2837+20G>A
|
|
|
NM_000548.5(TSC2):c.2837+20G>T
|
|
|
NM_000548.5(TSC2):c.2837+4C>G
|
rs544409858
|
|
NM_000548.5(TSC2):c.2837+5G>A
|
rs786203791
|
|
NM_000548.5(TSC2):c.2837+5G>T
|
|
|
NM_000548.5(TSC2):c.2837+7C>G
|
rs2089418654
|
|
NM_000548.5(TSC2):c.2837+8C>G
|
|
|
NM_000548.5(TSC2):c.2837+8C>T
|
rs1596369779
|
|
NM_000548.5(TSC2):c.2837+9T>C
|
rs912479360
|
|
NM_000548.5(TSC2):c.2837+9T>G
|
rs912479360
|
|
NM_000548.5(TSC2):c.2838-10C>T
|
rs1596374422
|
|
NM_000548.5(TSC2):c.2838-11T>C
|
rs2151412800
|
|
NM_000548.5(TSC2):c.2838-122G>A
|
rs1567489890
|
|
NM_000548.5(TSC2):c.2838-12C>T
|
|
|
NM_000548.5(TSC2):c.2838-13C>T
|
|
|
NM_000548.5(TSC2):c.2838-14T>G
|
|
|
NM_000548.5(TSC2):c.2838-16C>G
|
|
|
NM_000548.5(TSC2):c.2838-17C>G
|
|
|
NM_000548.5(TSC2):c.2838-17C>T
|
|
|
NM_000548.5(TSC2):c.2838-19C>T
|
|
|
NM_000548.5(TSC2):c.2838-20G>A
|
|
|
NM_000548.5(TSC2):c.2838-20G>T
|
rs2151412600
|
|
NM_000548.5(TSC2):c.2838-2A>C
|
|
|
NM_000548.5(TSC2):c.2838-2A>G
|
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-3T>G
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-5G>A
|
rs876660419
|
|
NM_000548.5(TSC2):c.2838-5G>C
|
rs876660419
|
|
NM_000548.5(TSC2):c.2838-5_2859del
|
|
|
NM_000548.5(TSC2):c.2838-6C>A
|
|
|
NM_000548.5(TSC2):c.2838-6C>G
|
|
|
NM_000548.5(TSC2):c.2838-7C>A
|
rs752762518
|
|
NM_000548.5(TSC2):c.2838-7C>G
|
|
|
NM_000548.5(TSC2):c.2838-8C>A
|
rs1567490339
|
|
NM_000548.5(TSC2):c.2838-8C>T
|
rs1567490339
|
|
NM_000548.5(TSC2):c.2838-9A>T
|
|
|
NM_000548.5(TSC2):c.2838T>C (p.Ser946=)
|
rs2089574542
|
|
NM_000548.5(TSC2):c.2839C>T (p.Leu947=)
|
rs2089574802
|
|
NM_000548.5(TSC2):c.283C>T (p.Leu95=)
|
|
|
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro)
|
rs1555509447
|
|
NM_000548.5(TSC2):c.2842A>C (p.Arg948=)
|
rs770710202
|
|
NM_000548.5(TSC2):c.2843G>T (p.Arg948Met)
|
rs1555509449
|
|
NM_000548.5(TSC2):c.2845A>G (p.Ile949Val)
|
|
|
NM_000548.5(TSC2):c.2846T>C (p.Ile949Thr)
|
rs2089576147
|
|
NM_000548.5(TSC2):c.2847A>G (p.Ile949Met)
|
rs1596374592
|
|
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro)
|
rs886051792
|
|
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)
|
rs780737734
|
|
NM_000548.5(TSC2):c.284T>C (p.Leu95Pro)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.284T>G (p.Leu95Arg)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.2850C>G (p.Ala950=)
|
rs2151413318
|
|
NM_000548.5(TSC2):c.2852G>A (p.Arg951Lys)
|
|
|
NM_000548.5(TSC2):c.2852G>C (p.Arg951Thr)
|
rs1216438701
|
|
NM_000548.5(TSC2):c.2852G>T (p.Arg951Ile)
|
rs1216438701
|
|
NM_000548.5(TSC2):c.2853A>C (p.Arg951Ser)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2853A>G (p.Arg951=)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2854C>A (p.Pro952Thr)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2854C>G (p.Pro952Ala)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2854C>T (p.Pro952Ser)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2855C>G (p.Pro952Arg)
|
rs2089578491
|
|
NM_000548.5(TSC2):c.2857C>G (p.Pro953Ala)
|
rs2151413577
|
|
NM_000548.5(TSC2):c.2857C>T (p.Pro953Ser)
|
rs2151413577
|
|
NM_000548.5(TSC2):c.2858C>G (p.Pro953Arg)
|
rs1303011979
|
|
NM_000548.5(TSC2):c.2858C>T (p.Pro953Leu)
|
rs1303011979
|
|
NM_000548.5(TSC2):c.2859C>A (p.Pro953=)
|
rs397514968
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.2863C>G (p.Gln955Glu)
|
rs1596374761
|
|
NM_000548.5(TSC2):c.2863C>T (p.Gln955Ter)
|
rs1596374761
|
|
NM_000548.5(TSC2):c.2866G>A (p.Gly956Ser)
|
rs769199118
|
|
NM_000548.5(TSC2):c.2866G>T (p.Gly956Cys)
|
rs769199118
|
|
NM_000548.5(TSC2):c.2867G>A (p.Gly956Asp)
|
rs2151413781
|
|
NM_000548.5(TSC2):c.2867G>T (p.Gly956Val)
|
rs2151413781
|
|
NM_000548.5(TSC2):c.2868C>G (p.Gly956=)
|
rs141573736
|
|
NM_000548.5(TSC2):c.2868C>T (p.Gly956=)
|
rs141573736
|
|
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer)
|
rs1057518322
|
|
NM_000548.5(TSC2):c.2869T>C (p.Leu957=)
|
rs2151413863
|
|
NM_000548.5(TSC2):c.286G>A (p.Glu96Lys)
|
rs2151027724
|
|
NM_000548.5(TSC2):c.2870T>C (p.Leu957Ser)
|
|
|
NM_000548.5(TSC2):c.2870dup (p.Leu957fs)
|
rs1567490680
|
|
NM_000548.5(TSC2):c.2871G>A (p.Leu957=)
|
|
|
NM_000548.5(TSC2):c.2871G>C (p.Leu957Phe)
|
rs772755332
|
|
NM_000548.5(TSC2):c.2872A>G (p.Asn958Asp)
|
rs1567490706
|
|
NM_000548.5(TSC2):c.2877C>T (p.Asn959=)
|
rs147523833
|
|
NM_000548.5(TSC2):c.2878T>G (p.Ser960Ala)
|
rs1005027685
|
|
NM_000548.5(TSC2):c.2879C>G (p.Ser960Cys)
|
rs397514898
|
|
NM_000548.5(TSC2):c.287A>G (p.Glu96Gly)
|
rs2085369532
|
|
NM_000548.5(TSC2):c.2880T>G (p.Ser960=)
|
|
|
NM_000548.5(TSC2):c.2880_2881del (p.Pro961fs)
|
rs2089583790
|
|
NM_000548.5(TSC2):c.2881C>A (p.Pro961Thr)
|
rs2089584361
|
|
NM_000548.5(TSC2):c.2881C>G (p.Pro961Ala)
|
|
|
NM_000548.5(TSC2):c.2881C>T (p.Pro961Ser)
|
rs2089584361
|
|
NM_000548.5(TSC2):c.2883A>T (p.Pro961=)
|
rs1596374943
|
|
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu)
|
rs367640434
|
|
NM_000548.5(TSC2):c.2890A>G (p.Lys964Glu)
|
rs1596375009
|
|
NM_000548.5(TSC2):c.2892A>T (p.Lys964Asn)
|
|
|
NM_000548.5(TSC2):c.2895A>C (p.Glu965Asp)
|
|
|
NM_000548.5(TSC2):c.2897T>C (p.Phe966Ser)
|
rs2151414797
|
|
NM_000548.5(TSC2):c.2898C>G (p.Phe966Leu)
|
rs2151414830
|
|
NM_000548.5(TSC2):c.2899A>G (p.Lys967Glu)
|
|
|
NM_000548.5(TSC2):c.289G>A (p.Ala97Thr)
|
rs1446873736
|
|
NM_000548.5(TSC2):c.289G>C (p.Ala97Pro)
|
rs1446873736
|
|
NM_000548.5(TSC2):c.28G>C (p.Gly10Arg)
|
|
|
NM_000548.5(TSC2):c.2900A>T (p.Lys967Met)
|
rs2089588117
|
|
NM_000548.5(TSC2):c.2902G>T (p.Glu968Ter)
|
|
|
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del)
|
rs1460562160
|
|
NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp)
|
rs765438249
|
|
NM_000548.5(TSC2):c.2909C>G (p.Ser970Cys)
|
rs758447107
|
|
NM_000548.5(TSC2):c.2909C>T (p.Ser970Phe)
|
rs758447107
|
|
NM_000548.5(TSC2):c.290C>A (p.Ala97Asp)
|
|
|
NM_000548.5(TSC2):c.2912C>T (p.Ala971Val)
|
rs1596375143
|
|
NM_000548.5(TSC2):c.2914G>A (p.Ala972Thr)
|
rs1567490981
|
|
NM_000548.5(TSC2):c.2915C>T (p.Ala972Val)
|
rs2089590552
|
|
NM_000548.5(TSC2):c.2916C>G (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2917G>C (p.Glu973Gln)
|
rs780981335
|
|
NM_000548.5(TSC2):c.2917G>T (p.Glu973Ter)
|
rs780981335
|
|
NM_000548.5(TSC2):c.2920G>A (p.Ala974Thr)
|
rs556778889
|
|
NM_000548.5(TSC2):c.2921C>T (p.Ala974Val)
|
|
|
NM_000548.5(TSC2):c.2922C>G (p.Ala974=)
|
rs1555509505
|
|
NM_000548.5(TSC2):c.2922C>T (p.Ala974=)
|
rs1555509505
|
|
NM_000548.5(TSC2):c.2924T>C (p.Phe975Ser)
|
rs2151415659
|
|
NM_000548.5(TSC2):c.2926C>A (p.Arg976=)
|
rs769527912
|
|
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)
|
rs779832805
|
|
NM_000548.5(TSC2):c.2928G>A (p.Arg976=)
|
rs2151415832
|
|
NM_000548.5(TSC2):c.292C>A (p.Arg98=)
|
rs372321790
|
|
NM_000548.5(TSC2):c.292C>G (p.Arg98Gly)
|
|
|
NM_000548.5(TSC2):c.2930G>A (p.Cys977Tyr)
|
rs2089593473
|
|
NM_000548.5(TSC2):c.2931C>A (p.Cys977Ter)
|
rs2089593888
|
|
NM_000548.5(TSC2):c.2931C>T (p.Cys977=)
|
rs2089593888
|
|
NM_000548.5(TSC2):c.2932C>G (p.Arg978Gly)
|
rs768241596
|
|
NM_000548.5(TSC2):c.2932_2934dup (p.Arg978dup)
|
rs2089593679
|
|
NM_000548.5(TSC2):c.2933G>A (p.Arg978His)
|
rs876660733
|
|
NM_000548.5(TSC2):c.2933G>T (p.Arg978Leu)
|
rs876660733
|
|
NM_000548.5(TSC2):c.2934C>T (p.Arg978=)
|
rs2089594737
|
|
NM_000548.5(TSC2):c.2935A>G (p.Ser979Gly)
|
|
|
NM_000548.5(TSC2):c.2936G>C (p.Ser979Thr)
|
rs2151416062
|
|
NM_000548.5(TSC2):c.2938A>G (p.Ile980Val)
|
|
|
NM_000548.5(TSC2):c.293G>C (p.Arg98Pro)
|
rs1478204355
|
|
NM_000548.5(TSC2):c.2940C>T (p.Ile980=)
|
rs2151416105
|
|
NM_000548.5(TSC2):c.2942G>A (p.Ser981Asn)
|
|
|
NM_000548.5(TSC2):c.2942G>C (p.Ser981Thr)
|
rs1596375336
|
|
NM_000548.5(TSC2):c.2943T>C (p.Ser981=)
|
rs1596375342
|
|
NM_000548.5(TSC2):c.2943T>G (p.Ser981Arg)
|
rs1596375342
|
|
NM_000548.5(TSC2):c.2944G>A (p.Val982Met)
|
|
|
NM_000548.5(TSC2):c.2946G>C (p.Val982=)
|
rs771332931
|
|
NM_000548.5(TSC2):c.2946_2947del (p.Val982_Ser983insTer)
|
|
|
NM_000548.5(TSC2):c.2949T>C (p.Ser983=)
|
rs2151416372
|
|
NM_000548.5(TSC2):c.294G>A (p.Arg98=)
|
|
|
NM_000548.5(TSC2):c.294G>C (p.Arg98=)
|
rs2085370771
|
|
NM_000548.5(TSC2):c.294dup (p.His99fs)
|
|
|
NM_000548.5(TSC2):c.2950G>A (p.Glu984Lys)
|
|
|
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln)
|
rs397515156
|
|
NM_000548.5(TSC2):c.2955T>C (p.His985=)
|
rs2151416490
|
|
NM_000548.5(TSC2):c.2957dup (p.Val987fs)
|
rs2089598055
|
|
NM_000548.5(TSC2):c.2958G>A (p.Val986=)
|
rs1114167464
|
|
NM_000548.5(TSC2):c.2959G>A (p.Val987Ile)
|
rs2089598568
|
|
NM_000548.5(TSC2):c.2960T>C (p.Val987Ala)
|
|
|
NM_000548.5(TSC2):c.2960T>G (p.Val987Gly)
|
rs1391148381
|
|
NM_000548.5(TSC2):c.2961C>A (p.Val987=)
|
rs775637322
|
|
NM_000548.5(TSC2):c.2961C>T (p.Val987=)
|
rs775637322
|
|
NM_000548.5(TSC2):c.2961_2966+3del
|
|
|
NM_000548.5(TSC2):c.2963G>A (p.Arg988His)
|
rs397515306
|
|
NM_000548.5(TSC2):c.2964C>A (p.Arg988=)
|
rs757274577
|
|
NM_000548.5(TSC2):c.2964C>T (p.Arg988=)
|
rs757274577
|
|
NM_000548.5(TSC2):c.2965A>G (p.Ser989Gly)
|
rs1567491278
|
|
NM_000548.5(TSC2):c.2966+10C>A
|
rs1596375636
|
|
NM_000548.5(TSC2):c.2966+10C>G
|
rs1596375636
|
|
NM_000548.5(TSC2):c.2966+10C>T
|
rs1596375636
|
|
NM_000548.5(TSC2):c.2966+11T>C
|
|
|
NM_000548.5(TSC2):c.2966+14C>A
|
rs377238278
|
|
NM_000548.5(TSC2):c.2966+14C>G
|
rs377238278
|
|
NM_000548.5(TSC2):c.2966+15G>A
|
rs779884344
|
|
NM_000548.5(TSC2):c.2966+17G>A
|
rs748886866
|
|
NM_000548.5(TSC2):c.2966+17G>C
|
|
|
NM_000548.5(TSC2):c.2966+18T>G
|
|
|
NM_000548.5(TSC2):c.2966+18_2966+21del
|
|
|
NM_000548.5(TSC2):c.2966+19G>A
|
rs377514748
|
|
NM_000548.5(TSC2):c.2966+19G>C
|
rs377514748
|
|
NM_000548.5(TSC2):c.2966+19_2966+20delinsTT
|
rs2151417108
|
|
NM_000548.5(TSC2):c.2966+1G>A
|
rs2089600815
|
|
NM_000548.5(TSC2):c.2966+1G>C
|
rs2089600815
|
|
NM_000548.5(TSC2):c.2966+20G>A
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+20G>C
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+20G>T
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+24del
|
rs1188094714
|
|
NM_000548.5(TSC2):c.2966+24dup
|
rs1188094714
|
|
NM_000548.5(TSC2):c.2966+3A>C
|
rs1332708335
|
|
NM_000548.5(TSC2):c.2966+4G>C
|
rs1235253082
|
|
NM_000548.5(TSC2):c.2966+8G>C
|
rs750283532
|
|
NM_000548.5(TSC2):c.2966+9A>G
|
|
|
NM_000548.5(TSC2):c.2966G>C (p.Ser989Thr)
|
rs1555509538
|
|
NM_000548.5(TSC2):c.2967-10C>G
|
rs1322718501
|
|
NM_000548.5(TSC2):c.2967-12C>T
|
rs2151429722
|
|
NM_000548.5(TSC2):c.2967-14G>C
|
|
|
NM_000548.5(TSC2):c.2967-18C>A
|
rs2151429604
|
|
NM_000548.5(TSC2):c.2967-1G>A
|
|
|
NM_000548.5(TSC2):c.2967-1G>T
|
rs1596382055
|
|
NM_000548.5(TSC2):c.2967-32_3105del
|
|
|
NM_000548.5(TSC2):c.2967-3C>T
|
|
|
NM_000548.5(TSC2):c.2967-4C>G
|
|
|
NM_000548.5(TSC2):c.2967-4C>T
|
|
|
NM_000548.5(TSC2):c.2967-7C>T
|
|
|
NM_000548.5(TSC2):c.2967-8C>G
|
|
|
NM_000548.5(TSC2):c.2968A>T (p.Arg990Trp)
|
rs753730009
|
|
NM_000548.5(TSC2):c.2972dup (p.Gln992fs)
|
rs2089786684
|
|
NM_000548.5(TSC2):c.2973A>C (p.Ile991=)
|
rs750003833
|
|
NM_000548.5(TSC2):c.2973A>G (p.Ile991Met)
|
|
|
NM_000548.5(TSC2):c.2975A>G (p.Gln992Arg)
|
|
|
NM_000548.5(TSC2):c.2977_2979del (p.Thr993del)
|
rs2151430223
|
|
NM_000548.5(TSC2):c.2979G>T (p.Thr993=)
|
rs45517277
|
|
NM_000548.5(TSC2):c.2981C>A (p.Ser994Tyr)
|
rs2151430416
|
|
NM_000548.5(TSC2):c.2981C>T (p.Ser994Phe)
|
rs2151430416
|
|
NM_000548.5(TSC2):c.2982C>A (p.Ser994=)
|
rs1555510188
|
|
NM_000548.5(TSC2):c.2982C>G (p.Ser994=)
|
rs1555510188
|
|
NM_000548.5(TSC2):c.2982C>T (p.Ser994=)
|
|
|
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)
|
rs752248140
|
|
NM_000548.5(TSC2):c.2983C>T (p.Leu995Phe)
|
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.2987C>A (p.Thr996Asn)
|
|
|
NM_000548.5(TSC2):c.2987C>T (p.Thr996Ile)
|
rs1596382185
|
|
NM_000548.5(TSC2):c.2988C>T (p.Thr996=)
|
|
|
NM_000548.5(TSC2):c.2989A>C (p.Ser997Arg)
|
|
|
NM_000548.5(TSC2):c.2989A>G (p.Ser997Gly)
|
rs1555510209
|
|
NM_000548.5(TSC2):c.2990G>A (p.Ser997Asn)
|
rs1596382214
|
|
NM_000548.5(TSC2):c.2990G>T (p.Ser997Ile)
|
rs1596382214
|
|
NM_000548.5(TSC2):c.2992G>A (p.Ala998Thr)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2993C>T (p.Ala998Val)
|
rs2089790275
|
|
NM_000548.5(TSC2):c.2994C>A (p.Ala998=)
|
rs2151430926
|
|
NM_000548.5(TSC2):c.2994C>T (p.Ala998=)
|
|
|
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)
|
rs149808366
|
|
NM_000548.5(TSC2):c.2996G>T (p.Ser999Ile)
|
rs149808366
|
|
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)
|
rs1596382268
|
|
NM_000548.5(TSC2):c.2998T>A (p.Leu1000Met)
|
|
|
NM_000548.5(TSC2):c.29G>T (p.Gly10Val)
|
rs2084671697
|
|
NM_000548.5(TSC2):c.2T>A (p.Met1Lys)
|
rs2084667702
|
|
NM_000548.5(TSC2):c.2T>C (p.Met1Thr)
|
rs2084667702
|
|
NM_000548.5(TSC2):c.3000G>A (p.Leu1000=)
|
rs2151431126
|
|
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu)
|
rs368878445
|
|
NM_000548.5(TSC2):c.3003G>A (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3003G>C (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3003G>T (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3005C>A (p.Ser1002Tyr)
|
rs748261129
|
|
NM_000548.5(TSC2):c.3005C>T (p.Ser1002Phe)
|
rs748261129
|
|
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3007G>T (p.Ala1003Ser)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.300G>T (p.Ala100=)
|
rs45517100
|
|
NM_000548.5(TSC2):c.3011A>C (p.Asp1004Ala)
|
rs2151431476
|
|
NM_000548.5(TSC2):c.3012T>G (p.Asp1004Glu)
|
rs772328985
|
|
NM_000548.5(TSC2):c.3015G>A (p.Glu1005=)
|
rs2151431602
|
|
NM_000548.5(TSC2):c.3017A>C (p.Asn1006Thr)
|
rs2151431671
|
|
NM_000548.5(TSC2):c.301G>T (p.Val101Leu)
|
rs878854089
|
|
NM_000548.5(TSC2):c.301_303dup (p.Val101_Leu102insVal)
|
|
|
NM_000548.5(TSC2):c.3020_3021delinsAA (p.Ser1007Ter)
|
rs2151431781
|
|
NM_000548.5(TSC2):c.3021C>G (p.Ser1007=)
|
|
|
NM_000548.5(TSC2):c.3023T>A (p.Val1008Glu)
|
rs2151431875
|
|
NM_000548.5(TSC2):c.3024G>A (p.Val1008=)
|
|
|
NM_000548.5(TSC2):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_000548.5(TSC2):c.3026C>T (p.Ala1009Val)
|
rs1567496227
|
|
NM_000548.5(TSC2):c.3027C>G (p.Ala1009=)
|
rs1320888448
|
|
NM_000548.5(TSC2):c.3027C>T (p.Ala1009=)
|
|
|
NM_000548.5(TSC2):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_000548.5(TSC2):c.302T>C (p.Val101Ala)
|
rs2085372909
|
|
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3031G>T (p.Ala1011Ser)
|
|
|
NM_000548.5(TSC2):c.3032del (p.Ala1011fs)
|
rs1596382441
|
|
NM_000548.5(TSC2):c.3033T>C (p.Ala1011=)
|
rs878854090
|
|
NM_000548.5(TSC2):c.3033T>G (p.Ala1011=)
|
|
|
NM_000548.5(TSC2):c.3036C>G (p.Asp1012Glu)
|
rs144997264
|
|
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn)
|
rs45517279
|
|
NM_000548.5(TSC2):c.3037G>C (p.Asp1013His)
|
rs45517279
|
|
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)
|
rs1060500961
|
|
NM_000548.5(TSC2):c.303G>A (p.Val101=)
|
|
|
NM_000548.5(TSC2):c.3040A>G (p.Ser1014Gly)
|
rs1163007321
|
|
NM_000548.5(TSC2):c.3042C>T (p.Ser1014=)
|
|
|
NM_000548.5(TSC2):c.3048A>G (p.Lys1016=)
|
rs1555510299
|
|
NM_000548.5(TSC2):c.3049A>G (p.Asn1017Asp)
|
|
|
NM_000548.5(TSC2):c.304C>T (p.Leu102=)
|
|
|
NM_000548.5(TSC2):c.3050A>G (p.Asn1017Ser)
|
rs2151432652
|
|
NM_000548.5(TSC2):c.3051C>T (p.Asn1017=)
|
rs752404221
|
|
NM_000548.5(TSC2):c.3052C>A (p.Leu1018Ile)
|
rs1034696882
|
|
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe)
|
rs1034696882
|
|
NM_000548.5(TSC2):c.3053T>C (p.Leu1018Pro)
|
rs2151432741
|
|
NM_000548.5(TSC2):c.3054C>G (p.Leu1018=)
|
rs762570079
|
|
NM_000548.5(TSC2):c.3055C>T (p.His1019Tyr)
|
rs2089797662
|
|
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3056A>G (p.His1019Arg)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3056A>T (p.His1019Leu)
|
|
|
NM_000548.5(TSC2):c.3058C>T (p.Leu1020=)
|
rs574318440
|
|
NM_000548.5(TSC2):c.3059T>C (p.Leu1020Pro)
|
rs2089798643
|
|
NM_000548.5(TSC2):c.3060G>A (p.Leu1020=)
|
|
|
NM_000548.5(TSC2):c.3064C>G (p.Leu1022Val)
|
|
|
NM_000548.5(TSC2):c.3067A>G (p.Thr1023Ala)
|
rs2089798819
|
|
NM_000548.5(TSC2):c.3067dup (p.Thr1023fs)
|
|
|
NM_000548.5(TSC2):c.3068C>T (p.Thr1023Met)
|
rs1555510327
|
|
NM_000548.5(TSC2):c.3069G>C (p.Thr1023=)
|
|
|
NM_000548.5(TSC2):c.3069G>T (p.Thr1023=)
|
|
|
NM_000548.5(TSC2):c.3070G>A (p.Glu1024Lys)
|
rs1060500960
|
|
NM_000548.5(TSC2):c.3075C>G (p.Thr1025=)
|
|
|
NM_000548.5(TSC2):c.3075C>T (p.Thr1025=)
|
rs1596382606
|
|
NM_000548.5(TSC2):c.3079C>T (p.Leu1027=)
|
rs1596382637
|
|
NM_000548.5(TSC2):c.307G>A (p.Ala103Thr)
|
rs2151028402
|
|
NM_000548.5(TSC2):c.307G>T (p.Ala103Ser)
|
|
|
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)
|
rs45438192
|
|
NM_000548.5(TSC2):c.3081G>C (p.Leu1027=)
|
|
|
NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val)
|
|
|
NM_000548.5(TSC2):c.3084C>T (p.Asp1028=)
|
rs1555510350
|
|
NM_000548.5(TSC2):c.3085A>G (p.Met1029Val)
|
|
|
NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg)
|
|
|
NM_000548.5(TSC2):c.3089T>C (p.Met1030Thr)
|
rs1567496821
|
|
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)
|
rs1567496821
|
|
NM_000548.5(TSC2):c.308C>G (p.Ala103Gly)
|
rs1555497043
|
|
NM_000548.5(TSC2):c.308C>T (p.Ala103Val)
|
rs1555497043
|
|
NM_000548.5(TSC2):c.3090G>C (p.Met1030Ile)
|
rs2151433890
|
|
NM_000548.5(TSC2):c.3091G>C (p.Ala1031Pro)
|
|
|
NM_000548.5(TSC2):c.3091G>T (p.Ala1031Ser)
|
rs2151433921
|
|
NM_000548.5(TSC2):c.3092C>T (p.Ala1031Val)
|
rs2151433942
|
|
NM_000548.5(TSC2):c.3094C>G (p.Arg1032Gly)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3095_3107del (p.Arg1032fs)
|
|
|
NM_000548.5(TSC2):c.3096A>G (p.Arg1032=)
|
rs2089803859
|
|
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.30C>G (p.Gly10=)
|
rs876659726
|
|
NM_000548.5(TSC2):c.30C>T (p.Gly10=)
|
rs876659726
|
|
NM_000548.5(TSC2):c.3100G>T (p.Val1034Phe)
|
rs146745242
|
|
NM_000548.5(TSC2):c.3101T>C (p.Val1034Ala)
|
|
|
NM_000548.5(TSC2):c.3102C>G (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3103T>G (p.Phe1035Val)
|
rs2151434349
|
|
NM_000548.5(TSC2):c.3105C>T (p.Phe1035=)
|
rs2151434410
|
|
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro)
|
rs45517281
|
|
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala)
|
rs45517281
|
|
NM_000548.5(TSC2):c.3108C>T (p.Ser1036=)
|
rs377575867
|
|
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)
|
rs1596259554
|
|
NM_000548.5(TSC2):c.310C>T (p.Leu104=)
|
rs1596259554
|
|
NM_000548.5(TSC2):c.3110A>C (p.Asn1037Thr)
|
rs2089806008
|
|
NM_000548.5(TSC2):c.3110A>G (p.Asn1037Ser)
|
|
|
NM_000548.5(TSC2):c.3111C>T (p.Asn1037=)
|
rs1222753588
|
|
NM_000548.5(TSC2):c.3114C>T (p.Phe1038=)
|
rs1567497089
|
|
NM_000548.5(TSC2):c.3115A>G (p.Thr1039Ala)
|
rs2151434691
|
|
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met)
|
rs1596382895
|
|
NM_000548.5(TSC2):c.3117G>C (p.Thr1039=)
|
rs747104674
|
|
NM_000548.5(TSC2):c.3117G>T (p.Thr1039=)
|
|
|
NM_000548.5(TSC2):c.3118G>T (p.Ala1040Ser)
|
|
|
NM_000548.5(TSC2):c.3118_3126del (p.Ala1040_Pro1042del)
|
|
|
NM_000548.5(TSC2):c.311T>C (p.Leu104Pro)
|
rs2085373985
|
|
NM_000548.5(TSC2):c.3122T>C (p.Val1041Ala)
|
|
|
NM_000548.5(TSC2):c.3123C>T (p.Val1041=)
|
rs776710692
|
|
NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln)
|
|
|
NM_000548.5(TSC2):c.3125C>G (p.Pro1042Arg)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter)
|
|
|
NM_000548.5(TSC2):c.3130A>G (p.Arg1044Gly)
|
|
|
NM_000548.5(TSC2):c.3131+12A>C
|
|
|
NM_000548.5(TSC2):c.3131+13del
|
|
|
NM_000548.5(TSC2):c.3131+14T>A
|
|
|
NM_000548.5(TSC2):c.3131+16C>T
|
rs1298637729
|
|
NM_000548.5(TSC2):c.3131+17A>G
|
|
|
NM_000548.5(TSC2):c.3131+18G>C
|
rs2151435723
|
|
NM_000548.5(TSC2):c.3131+19G>A
|
|
|
NM_000548.5(TSC2):c.3131+19G>C
|
rs754157205
|
|
NM_000548.5(TSC2):c.3131+1G>A
|
rs45506401
|
|
NM_000548.5(TSC2):c.3131+3C>A
|
rs1420280878
|
|
NM_000548.5(TSC2):c.3131+3C>G
|
|
|
NM_000548.5(TSC2):c.3131+4C>G
|
rs559015964
|
|
NM_000548.5(TSC2):c.3131+4C>T
|
rs559015964
|
|
NM_000548.5(TSC2):c.3131+5A>C
|
rs1843069967
|
|
NM_000548.5(TSC2):c.3131+7G>A
|
rs1596383060
|
|
NM_000548.5(TSC2):c.3131+8C>A
|
rs763702215
|
|
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3131G>C (p.Arg1044Thr)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3132-11C>G
|
rs2089819486
|
|
NM_000548.5(TSC2):c.3132-11_3132-10del
|
|
|
NM_000548.5(TSC2):c.3132-12C>G
|
|
|
NM_000548.5(TSC2):c.3132-12C>T
|
|
|
NM_000548.5(TSC2):c.3132-13C>G
|
rs371948435
|
|
NM_000548.5(TSC2):c.3132-14T>A
|
rs2151436540
|
|
NM_000548.5(TSC2):c.3132-15C>G
|
rs769659537
|
|
NM_000548.5(TSC2):c.3132-15C>T
|
|
|
NM_000548.5(TSC2):c.3132-16G>T
|
|
|
NM_000548.5(TSC2):c.3132-18A>C
|
|
|
NM_000548.5(TSC2):c.3132-1G>A
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-1G>C
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-1G>T
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-20T>C
|
|
|
NM_000548.5(TSC2):c.3132-2A>C
|
rs45517282
|
|
NM_000548.5(TSC2):c.3132-3T>C
|
rs2089821106
|
|
NM_000548.5(TSC2):c.3132-4C>G
|
|
|
NM_000548.5(TSC2):c.3132-4C>T
|
rs1228693719
|
|
NM_000548.5(TSC2):c.3132-9G>T
|
|
|
NM_000548.5(TSC2):c.3132G>A (p.Arg1044=)
|
|
|
NM_000548.5(TSC2):c.3132_3133insAGAC (p.Ser1045fs)
|
|
|
NM_000548.5(TSC2):c.3133T>A (p.Ser1045Thr)
|
rs1596383557
|
|
NM_000548.5(TSC2):c.3134C>G (p.Ser1045Cys)
|
rs1567497647
|
|
NM_000548.5(TSC2):c.3136C>T (p.Pro1046Ser)
|
rs774008119
|
|
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu)
|
rs1567497682
|
|
NM_000548.5(TSC2):c.313C>T (p.Leu105=)
|
|
|
NM_000548.5(TSC2):c.3141G>A (p.Val1047=)
|
rs1596383623
|
|
NM_000548.5(TSC2):c.3141G>T (p.Val1047=)
|
rs1596383623
|
|
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)
|
rs772640324
|
|
NM_000548.5(TSC2):c.3145G>C (p.Glu1049Gln)
|
rs796053492
|
|
NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter)
|
rs796053492
|
|
NM_000548.5(TSC2):c.3153C>A (p.Leu1051=)
|
rs1298892692
|
|
NM_000548.5(TSC2):c.3153C>G (p.Leu1051=)
|
rs1298892692
|
|
NM_000548.5(TSC2):c.3155T>C (p.Leu1052Pro)
|
rs878854091
|
|
NM_000548.5(TSC2):c.3156A>G (p.Leu1052=)
|
rs1347619346
|
|
NM_000548.5(TSC2):c.3156del (p.Ala1053fs)
|
rs2151437486
|
|
NM_000548.5(TSC2):c.3157G>A (p.Ala1053Thr)
|
rs2151437502
|
|
NM_000548.5(TSC2):c.3159G>T (p.Ala1053=)
|
|
|
NM_000548.5(TSC2):c.3160G>A (p.Gly1054Ser)
|
|
|
NM_000548.5(TSC2):c.3161G>A (p.Gly1054Asp)
|
|
|
NM_000548.5(TSC2):c.3161G>T (p.Gly1054Val)
|
|
|
NM_000548.5(TSC2):c.3162T>C (p.Gly1054=)
|
|
|
NM_000548.5(TSC2):c.3164G>A (p.Gly1055Asp)
|
rs1443030830
|
|
NM_000548.5(TSC2):c.3164_3170del (p.Gly1055fs)
|
rs2151437718
|
|
NM_000548.5(TSC2):c.3166A>G (p.Arg1056Gly)
|
rs2151437774
|
|
NM_000548.5(TSC2):c.3168G>A (p.Arg1056=)
|
rs1240555646
|
|
NM_000548.5(TSC2):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_000548.5(TSC2):c.3177C>G (p.Thr1059=)
|
rs1031918517
|
|
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=)
|
rs1031918517
|
|
NM_000548.5(TSC2):c.3179G>C (p.Trp1060Ser)
|
rs2089827541
|
|
NM_000548.5(TSC2):c.317A>C (p.Lys106Thr)
|
rs1567395686
|
|
NM_000548.5(TSC2):c.317A>G (p.Lys106Arg)
|
rs1567395686
|
|
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)
|
rs796053509
|
|
NM_000548.5(TSC2):c.3181C>A (p.Leu1061Met)
|
|
|
NM_000548.5(TSC2):c.3181C>G (p.Leu1061Val)
|
rs946673791
|
|
NM_000548.5(TSC2):c.3182T>G (p.Leu1061Arg)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3184G>T (p.Val1062Phe)
|
|
|
NM_000548.5(TSC2):c.3185T>C (p.Val1062Ala)
|
|
|
NM_000548.5(TSC2):c.3188G>A (p.Gly1063Glu)
|
rs2089828784
|
|
NM_000548.5(TSC2):c.3189del (p.Asn1064fs)
|
rs1567498041
|
|
NM_000548.5(TSC2):c.3190A>G (p.Asn1064Asp)
|
rs2151438419
|
|
NM_000548.5(TSC2):c.3190_3209dup (p.Ser1072_Val1073insLeuSerLeuTerThrSer)
|
|
|
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)
|
rs201670791
|
|
NM_000548.5(TSC2):c.3193A>G (p.Lys1065Glu)
|
rs751955670
|
|
NM_000548.5(TSC2):c.3195G>A (p.Lys1065=)
|
rs1596383887
|
|
NM_000548.5(TSC2):c.3196C>G (p.Leu1066Val)
|
rs886051793
|
|
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)
|
rs886051793
|
|
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)
|
rs397515207
|
|
NM_000548.5(TSC2):c.31T>C (p.Leu11=)
|
rs978517404
|
|
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=)
|
rs1064794201
|
|
NM_000548.5(TSC2):c.3201C>T (p.Val1067=)
|
|
|
NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro)
|
rs1060500947
|
|
NM_000548.5(TSC2):c.3202A>G (p.Thr1068Ala)
|
|
|
NM_000548.5(TSC2):c.3203C>A (p.Thr1068Asn)
|
rs397515284
|
|
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile)
|
rs397515284
|
|
NM_000548.5(TSC2):c.3205G>A (p.Val1069Met)
|
rs2151438862
|
|
NM_000548.5(TSC2):c.3205G>C (p.Val1069Leu)
|
rs2151438862
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3207GAC[1] (p.Thr1071del)
|
|
|
NM_000548.5(TSC2):c.320C>A (p.Ala107Asp)
|
rs2085374926
|
|
NM_000548.5(TSC2):c.320C>T (p.Ala107Val)
|
rs2085374926
|
|
NM_000548.5(TSC2):c.3210G>C (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3214A>G (p.Ser1072Gly)
|
|
|
NM_000548.5(TSC2):c.3217G>A (p.Val1073Met)
|
rs749192298
|
|
NM_000548.5(TSC2):c.321C>T (p.Ala107=)
|
rs1280933774
|
|
NM_000548.5(TSC2):c.3221G>T (p.Gly1074Val)
|
rs2089833187
|
|
NM_000548.5(TSC2):c.3222A>T (p.Gly1074=)
|
rs1223282413
|
|
NM_000548.5(TSC2):c.3223A>G (p.Thr1075Ala)
|
rs768568810
|
|
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)
|
rs397515115
|
|
NM_000548.5(TSC2):c.3224C>A (p.Thr1075Asn)
|
rs397515024
|
|
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile)
|
rs397515024
|
|
NM_000548.5(TSC2):c.3225C>A (p.Thr1075=)
|
|
|
NM_000548.5(TSC2):c.3228G>C (p.Gly1076=)
|
rs771763773
|
|
NM_000548.5(TSC2):c.3228_3234dup (p.Ser1079fs)
|
rs2089834376
|
|
NM_000548.5(TSC2):c.3229_3258dup (p.Thr1077_Gly1086dup)
|
rs1567498463
|
|
NM_000548.5(TSC2):c.322A>G (p.Ile108Val)
|
rs955754399
|
|
NM_000548.5(TSC2):c.322dup (p.Ile108fs)
|
rs2085375504
|
|
NM_000548.5(TSC2):c.3231C>T (p.Thr1077=)
|
rs772876273
|
|
NM_000548.5(TSC2):c.3232C>A (p.Arg1078=)
|
rs78956195
|
|
NM_000548.5(TSC2):c.3234G>A (p.Arg1078=)
|
rs1256666302
|
|
NM_000548.5(TSC2):c.3235T>G (p.Ser1079Ala)
|
rs1555510643
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3237G>T (p.Ser1079=)
|
|
|
NM_000548.5(TSC2):c.3238T>C (p.Leu1080=)
|
rs1596384213
|
|
NM_000548.5(TSC2):c.3239T>A (p.Leu1080Ter)
|
rs2089838149
|
|
NM_000548.5(TSC2):c.3239dup (p.Leu1080fs)
|
|
|
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe)
|
rs371514669
|
|
NM_000548.5(TSC2):c.3241C>T (p.Leu1081=)
|
rs1555510658
|
|
NM_000548.5(TSC2):c.3243A>G (p.Leu1081=)
|
rs1156745816
|
|
NM_000548.5(TSC2):c.3245G>T (p.Gly1082Val)
|
rs2151440096
|
|
NM_000548.5(TSC2):c.3246C>T (p.Gly1082=)
|
|
|
NM_000548.5(TSC2):c.3247C>T (p.Leu1083=)
|
|
|
NM_000548.5(TSC2):c.3247del (p.Leu1083fs)
|
|
|
NM_000548.5(TSC2):c.3248T>C (p.Leu1083Pro)
|
rs2089839896
|
|
NM_000548.5(TSC2):c.3250G>A (p.Asp1084Asn)
|
rs2151440238
|
|
NM_000548.5(TSC2):c.3251A>G (p.Asp1084Gly)
|
|
|
NM_000548.5(TSC2):c.3251A>T (p.Asp1084Val)
|
|
|
NM_000548.5(TSC2):c.3251del (p.Asp1084fs)
|
rs2089840483
|
|
NM_000548.5(TSC2):c.3252C>A (p.Asp1084Glu)
|
rs45517286
|
|
NM_000548.5(TSC2):c.3252C>T (p.Asp1084=)
|
|
|
NM_000548.5(TSC2):c.3253T>G (p.Ser1085Ala)
|
rs767655384
|
|
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter)
|
rs45517287
|
|
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3255G>C (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3255G>T (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3255_3262del (p.Gly1086fs)
|
|
|
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3258G>A (p.Gly1086=)
|
rs2151440552
|
|
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys)
|
rs1085307762
|
|
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.325G>T (p.Val109Leu)
|
|
|
NM_000548.5(TSC2):c.3261G>A (p.Glu1087=)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3262C>T (p.Leu1088=)
|
|
|
NM_000548.5(TSC2):c.3264G>A (p.Leu1088=)
|
rs920434484
|
|
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)
|
rs45517288
|
|
NM_000548.5(TSC2):c.3266A>G (p.Gln1089Arg)
|
rs2089843844
|
|
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=)
|
rs1555510717
|
|
NM_000548.5(TSC2):c.3267G>T (p.Gln1089His)
|
|
|
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
|
rs1060500936
|
|
NM_000548.5(TSC2):c.3269C>A (p.Ser1090Tyr)
|
rs1596384471
|
|
NM_000548.5(TSC2):c.3269C>G (p.Ser1090Cys)
|
rs1596384471
|
|
NM_000548.5(TSC2):c.3270del (p.Gly1091fs)
|
|
|
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser)
|
rs796053493
|
|
NM_000548.5(TSC2):c.3272G>A (p.Gly1091Asp)
|
rs2089845275
|
|
NM_000548.5(TSC2):c.3272G>C (p.Gly1091Ala)
|
|
|
NM_000548.5(TSC2):c.3272G>T (p.Gly1091Val)
|
|
|
NM_000548.5(TSC2):c.3273C>T (p.Gly1091=)
|
rs1060500971
|
|
NM_000548.5(TSC2):c.3274C>T (p.Pro1092Ser)
|
rs2089845906
|
|
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)
|
rs368923127
|
|
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly)
|
rs796053494
|
|
NM_000548.5(TSC2):c.3279G>A (p.Glu1093=)
|
|
|
NM_000548.5(TSC2):c.327G>T (p.Val109=)
|
|
|
NM_000548.5(TSC2):c.3281C>A (p.Ser1094Ter)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3283A>G (p.Ser1095Gly)
|
rs2089847209
|
|
NM_000548.5(TSC2):c.3284+10C>G
|
rs776269274
|
|
NM_000548.5(TSC2):c.3284+11C>T
|
|
|
NM_000548.5(TSC2):c.3284+13T>A
|
|
|
NM_000548.5(TSC2):c.3284+16T>C
|
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284+3G>A
|
rs2089847916
|
|
NM_000548.5(TSC2):c.3284+3G>C
|
|
|
NM_000548.5(TSC2):c.3284+3G>T
|
|
|
NM_000548.5(TSC2):c.3284+4_3284+6dup
|
|
|
NM_000548.5(TSC2):c.3284+5C>G
|
rs1596384620
|
|
NM_000548.5(TSC2):c.3284+7G>A
|
|
|
NM_000548.5(TSC2):c.3284+7G>T
|
rs1179505582
|
|
NM_000548.5(TSC2):c.3284+8C>T
|
rs2089849102
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3285-10C>G
|
rs763903351
|
|
NM_000548.5(TSC2):c.3285-12T>G
|
|
|
NM_000548.5(TSC2):c.3285-13A>T
|
|
|
NM_000548.5(TSC2):c.3285-14G>A
|
|
|
NM_000548.5(TSC2):c.3285-15G>A
|
rs1342617015
|
|
NM_000548.5(TSC2):c.3285-18G>C
|
|
|
NM_000548.5(TSC2):c.3285-20del
|
|
|
NM_000548.5(TSC2):c.3285-3C>T
|
rs781023043
|
|
NM_000548.5(TSC2):c.3285-4T>C
|
rs756951926
|
|
NM_000548.5(TSC2):c.3285-5C>G
|
rs1444989940
|
|
NM_000548.5(TSC2):c.3285-5_3285-3del
|
rs2151443997
|
|
NM_000548.5(TSC2):c.3285-7T>G
|
rs1260593322
|
|
NM_000548.5(TSC2):c.3285-8C>G
|
rs751418785
|
|
NM_000548.5(TSC2):c.3285-8C>T
|
rs751418785
|
|
NM_000548.5(TSC2):c.3286T>A (p.Ser1096Thr)
|
|
|
NM_000548.5(TSC2):c.3287C>G (p.Ser1096Cys)
|
rs140772300
|
|
NM_000548.5(TSC2):c.3288C>T (p.Ser1096=)
|
rs1596385627
|
|
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)
|
rs1064796511
|
|
NM_000548.5(TSC2):c.3290G>A (p.Ser1097Asn)
|
rs1060500912
|
|
NM_000548.5(TSC2):c.3291C>G (p.Ser1097Arg)
|
rs1173297358
|
|
NM_000548.5(TSC2):c.3291C>T (p.Ser1097=)
|
rs1173297358
|
|
NM_000548.5(TSC2):c.3292C>G (p.Pro1098Ala)
|
rs772686090
|
|
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser)
|
rs772686090
|
|
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg)
|
rs773545852
|
|
NM_000548.5(TSC2):c.3294dup (p.Gly1099fs)
|
rs397515048
|
|
NM_000548.5(TSC2):c.3295G>T (p.Gly1099Trp)
|
rs776855601
|
|
NM_000548.5(TSC2):c.3296G>T (p.Gly1099Val)
|
rs2151444560
|
|
NM_000548.5(TSC2):c.3298G>A (p.Val1100Met)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.3298G>C (p.Val1100Leu)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.329A>C (p.Gln110Pro)
|
rs2085376654
|
|
NM_000548.5(TSC2):c.329A>G (p.Gln110Arg)
|
rs2085376654
|
|
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)
|
rs775584262
|
|
NM_000548.5(TSC2):c.3305T>G (p.Val1102Gly)
|
|
|
NM_000548.5(TSC2):c.3305_3306del (p.Val1102fs)
|
|
|
NM_000548.5(TSC2):c.3305_3306dup (p.Arg1103Ter)
|
rs2151444781
|
|
NM_000548.5(TSC2):c.3306G>A (p.Val1102=)
|
rs762917290
|
|
NM_000548.5(TSC2):c.3307A>T (p.Arg1103Ter)
|
|
|
NM_000548.5(TSC2):c.330G>A (p.Gln110=)
|
rs1203856960
|
|
NM_000548.5(TSC2):c.3310C>A (p.Gln1104Lys)
|
rs397514978
|
|
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.3313A>G (p.Thr1105Ala)
|
rs2089870323
|
|
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile)
|
rs946381749
|
|
NM_000548.5(TSC2):c.3315C>G (p.Thr1105=)
|
rs1206474156
|
|
NM_000548.5(TSC2):c.3316A>T (p.Lys1106Ter)
|
rs2151445155
|
|
NM_000548.5(TSC2):c.3317A>C (p.Lys1106Thr)
|
rs764113584
|
|
NM_000548.5(TSC2):c.3317A>G (p.Lys1106Arg)
|
rs764113584
|
|
NM_000548.5(TSC2):c.3319_3320delinsAT (p.Glu1107Met)
|
rs1596385905
|
|
NM_000548.5(TSC2):c.3319_3320delinsCT (p.Glu1107Leu)
|
rs1596385905
|
|
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)
|
rs1266039524
|
|
NM_000548.5(TSC2):c.3320A>G (p.Glu1107Gly)
|
|
|
NM_000548.5(TSC2):c.3321G>A (p.Glu1107=)
|
rs1596385920
|
|
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val)
|
rs587781782
|
|
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=)
|
rs786203392
|
|
NM_000548.5(TSC2):c.3324G>T (p.Ala1108=)
|
rs786203392
|
|
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala)
|
rs1555510880
|
|
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)
|
rs796053474
|
|
NM_000548.5(TSC2):c.3327G>T (p.Pro1109=)
|
rs45478393
|
|
NM_000548.5(TSC2):c.3328G>A (p.Ala1110Thr)
|
rs1260370117
|
|
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)
|
rs1060500923
|
|
NM_000548.5(TSC2):c.3329C>T (p.Ala1110Val)
|
|
|
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=)
|
rs1555510912
|
|
NM_000548.5(TSC2):c.3330C>T (p.Ala1110=)
|
rs1555510912
|
|
NM_000548.5(TSC2):c.3331A>G (p.Lys1111Glu)
|
rs2151445646
|
|
NM_000548.5(TSC2):c.3334C>G (p.Leu1112Val)
|
rs531172613
|
|
NM_000548.5(TSC2):c.3334C>T (p.Leu1112=)
|
rs531172613
|
|
NM_000548.5(TSC2):c.3335_3355dup (p.Leu1112_Gln1118dup)
|
rs2089873322
|
|
NM_000548.5(TSC2):c.3336G>T (p.Leu1112=)
|
rs1389714633
|
|
NM_000548.5(TSC2):c.3337G>A (p.Glu1113Lys)
|
rs1567500491
|
|
NM_000548.5(TSC2):c.3337G>C (p.Glu1113Gln)
|
rs1567500491
|
|
NM_000548.5(TSC2):c.3337del (p.Glu1113fs)
|
|
|
NM_000548.5(TSC2):c.3338A>G (p.Glu1113Gly)
|
rs2151445909
|
|
NM_000548.5(TSC2):c.3339G>A (p.Glu1113=)
|
rs1060504092
|
|
NM_000548.5(TSC2):c.333G>A (p.Gly111=)
|
rs1198874350
|
|
NM_000548.5(TSC2):c.333G>C (p.Gly111=)
|
rs1198874350
|
|
NM_000548.5(TSC2):c.3340T>G (p.Ser1114Ala)
|
|
|
NM_000548.5(TSC2):c.3340_3351del (p.Ser1114_Gly1117del)
|
rs2089874614
|
|
NM_000548.5(TSC2):c.3341C>A (p.Ser1114Tyr)
|
|
|
NM_000548.5(TSC2):c.3342C>A (p.Ser1114=)
|
rs755871381
|
|
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)
|
rs137854253
|
|
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup)
|
rs1567500517
|
|
NM_000548.5(TSC2):c.3345G>T (p.Gln1115His)
|
rs1323724570
|
|
NM_000548.5(TSC2):c.3346G>A (p.Ala1116Thr)
|
rs1369469515
|
|
NM_000548.5(TSC2):c.3347C>G (p.Ala1116Gly)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3347C>T (p.Ala1116Val)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3348T>C (p.Ala1116=)
|
|
|
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=)
|
rs1596386166
|
|
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter)
|
rs45496291
|
|
NM_000548.5(TSC2):c.3353A>T (p.Gln1118Leu)
|
rs2089877003
|
|
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)
|
rs45517292
|
|
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)
|
rs1567500641
|
|
NM_000548.5(TSC2):c.3357G>A (p.Gln1119=)
|
rs1309073649
|
|
NM_000548.5(TSC2):c.3357G>T (p.Gln1119His)
|
rs1309073649
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu)
|
rs397514895
|
|
NM_000548.5(TSC2):c.335_336+14del
|
rs1596259720
|
|
NM_000548.5(TSC2):c.336+11G>T
|
rs983337757
|
|
NM_000548.5(TSC2):c.336+13G>A
|
|
|
NM_000548.5(TSC2):c.336+14C>G
|
|
|
NM_000548.5(TSC2):c.336+15G>C
|
rs777904257
|
|
NM_000548.5(TSC2):c.336+16A>G
|
|
|
NM_000548.5(TSC2):c.336+18G>A
|
rs2085381541
|
|
NM_000548.5(TSC2):c.336+18G>T
|
rs2085381541
|
|
NM_000548.5(TSC2):c.336+19C>A
|
rs2151029584
|
|
NM_000548.5(TSC2):c.336+19C>T
|
|
|
NM_000548.5(TSC2):c.336+19_336+33dup
|
|
|
NM_000548.5(TSC2):c.336+1G>A
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+1G>C
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+1G>T
|
|
|
NM_000548.5(TSC2):c.336+33G>T
|
rs45517104
|
|
NM_000548.5(TSC2):c.336+5G>C
|
rs1057523242
|
|
NM_000548.5(TSC2):c.336+6G>A
|
rs2085379244
|
|
NM_000548.5(TSC2):c.336+7C>A
|
rs1199855368
|
|
NM_000548.5(TSC2):c.3360G>T (p.Val1120=)
|
rs1596386237
|
|
NM_000548.5(TSC2):c.3361T>C (p.Ser1121Pro)
|
|
|
NM_000548.5(TSC2):c.3361_3362delinsGACA (p.Ser1121fs)
|
rs2089878502
|
|
NM_000548.5(TSC2):c.3362C>A (p.Ser1121Tyr)
|
rs1596386254
|
|
NM_000548.5(TSC2):c.3362C>T (p.Ser1121Phe)
|
rs1596386254
|
|
NM_000548.5(TSC2):c.3363C>G (p.Ser1121=)
|
rs1555510946
|
|
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro)
|
rs369536711
|
|
NM_000548.5(TSC2):c.3365G>T (p.Arg1122Leu)
|
rs369536711
|
|
NM_000548.5(TSC2):c.3367G>T (p.Gly1123Trp)
|
|
|
NM_000548.5(TSC2):c.336G>A (p.Gln112=)
|
|
|
NM_000548.5(TSC2):c.337-12T>A
|
rs2151039655
|
|
NM_000548.5(TSC2):c.337-13C>G
|
|
|
NM_000548.5(TSC2):c.337-13C>T
|
|
|
NM_000548.5(TSC2):c.337-14G>C
|
|
|
NM_000548.5(TSC2):c.337-16T>C
|
|
|
NM_000548.5(TSC2):c.337-16_337-15delinsCC
|
rs2151039514
|
|
NM_000548.5(TSC2):c.337-17G>A
|
rs1259615174
|
|
NM_000548.5(TSC2):c.337-17G>T
|
|
|
NM_000548.5(TSC2):c.337-18T>C
|
rs2151039421
|
|
NM_000548.5(TSC2):c.337-19C>G
|
|
|
NM_000548.5(TSC2):c.337-19del
|
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-20C>G
|
rs376175375
|
|
NM_000548.5(TSC2):c.337-20C>T
|
|
|
NM_000548.5(TSC2):c.337-2A>C
|
|
|
NM_000548.5(TSC2):c.337-6C>G
|
rs760230326
|
|
NM_000548.5(TSC2):c.337-6C>T
|
|
|
NM_000548.5(TSC2):c.337-7T>C
|
|
|
NM_000548.5(TSC2):c.337-8G>C
|
|
|
NM_000548.5(TSC2):c.3372C>G (p.Ala1124=)
|
rs1555510963
|
|
NM_000548.5(TSC2):c.3372C>T (p.Ala1124=)
|
rs1555510963
|
|
NM_000548.5(TSC2):c.3373C>A (p.Arg1125=)
|
|
|
NM_000548.5(TSC2):c.3375G>A (p.Arg1125=)
|
rs878854093
|
|
NM_000548.5(TSC2):c.3375_3386dup (p.Arg1129_Ser1130insAspArgValArg)
|
|
|
NM_000548.5(TSC2):c.3376G>A (p.Asp1126Asn)
|
rs2151447156
|
|
NM_000548.5(TSC2):c.3377A>G (p.Asp1126Gly)
|
rs397514945
|
|
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)
|
rs1387479871
|
|
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=)
|
rs1596386421
|
|
NM_000548.5(TSC2):c.3381G>C (p.Arg1127=)
|
rs1596386421
|
|
NM_000548.5(TSC2):c.3382G>A (p.Val1128Ile)
|
rs1417366523
|
|
NM_000548.5(TSC2):c.3385dup (p.Arg1129fs)
|
|
|
NM_000548.5(TSC2):c.3387T>C (p.Arg1129=)
|
|
|
NM_000548.5(TSC2):c.3389C>G (p.Ser1130Cys)
|
rs1163066622
|
|
NM_000548.5(TSC2):c.338G>A (p.Gly113Asp)
|
|
|
NM_000548.5(TSC2):c.3391A>T (p.Met1131Leu)
|
rs775639244
|
|
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile)
|
rs1297504532
|
|
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=)
|
rs373004429
|
|
NM_000548.5(TSC2):c.3397+11G>A
|
rs1596386676
|
|
NM_000548.5(TSC2):c.3397+15dup
|
|
|
NM_000548.5(TSC2):c.3397+16A>C
|
rs1456373944
|
|
NM_000548.5(TSC2):c.3397+17G>A
|
|
|
NM_000548.5(TSC2):c.3397+17G>C
|
|
|
NM_000548.5(TSC2):c.3397+18C>T
|
|
|
NM_000548.5(TSC2):c.3397+19C>A
|
|
|
NM_000548.5(TSC2):c.3397+19C>T
|
|
|
NM_000548.5(TSC2):c.3397+1G>A
|
rs137854208
|
|
NM_000548.5(TSC2):c.3397+1G>T
|
rs137854208
|
|
NM_000548.5(TSC2):c.3397+20A>C
|
rs376079104
|
|
NM_000548.5(TSC2):c.3397+21_3397+22insGTCCACAC
|
|
|
NM_000548.5(TSC2):c.3397+4A>G
|
|
|
NM_000548.5(TSC2):c.3397+5G>A
|
rs45501492
|
|
NM_000548.5(TSC2):c.3397+6C>G
|
rs955636757
|
|
NM_000548.5(TSC2):c.3397+8T>C
|
|
|
NM_000548.5(TSC2):c.3397+9T>G
|
|
|
NM_000548.5(TSC2):c.3397G>A (p.Gly1133Arg)
|
rs1555511031
|
|
NM_000548.5(TSC2):c.3397G>T (p.Gly1133Trp)
|
rs1555511031
|
|
NM_000548.5(TSC2):c.3398-10T>G
|
rs137854369
|
|
NM_000548.5(TSC2):c.3398-10TCT[3]
|
|
|
NM_000548.5(TSC2):c.3398-11C>T
|
rs1567503013
|
|
NM_000548.5(TSC2):c.3398-12C>A
|
|
|
NM_000548.5(TSC2):c.3398-12C>T
|
rs2151455240
|
|
NM_000548.5(TSC2):c.3398-14G>A
|
|
|
NM_000548.5(TSC2):c.3398-16C>T
|
|
|
NM_000548.5(TSC2):c.3398-16_3398-15del
|
|
|
NM_000548.5(TSC2):c.3398-17T>C
|
|
|
NM_000548.5(TSC2):c.3398-18C>G
|
rs772159760
|
|
NM_000548.5(TSC2):c.3398-1G>C
|
|
|
NM_000548.5(TSC2):c.3398-2A>G
|
rs2151455445
|
|
NM_000548.5(TSC2):c.3398-3C>T
|
rs2089951550
|
|
NM_000548.5(TSC2):c.3398-5_3398-3del
|
rs1060500917
|
|
NM_000548.5(TSC2):c.3398-6C>G
|
rs1555511284
|
|
NM_000548.5(TSC2):c.3398-6C>T
|
rs1555511284
|
|
NM_000548.5(TSC2):c.3398-8T>G
|
|
|
NM_000548.5(TSC2):c.3398-9C>G
|
|
|
NM_000548.5(TSC2):c.3398G>A (p.Gly1133Glu)
|
rs1208166840
|
|
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=)
|
rs2151455530
|
|
NM_000548.5(TSC2):c.339C>T (p.Gly113=)
|
rs368451664
|
|
NM_000548.5(TSC2):c.33G>A (p.Leu11=)
|
rs1190907341
|
|
NM_000548.5(TSC2):c.3400G>A (p.Gly1134Ser)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3401G>C (p.Gly1134Ala)
|
rs766223343
|
|
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)
|
rs137854314
|
|
NM_000548.5(TSC2):c.3402C>T (p.Gly1134=)
|
rs973994676
|
|
NM_000548.5(TSC2):c.3403C>A (p.His1135Asn)
|
|
|
NM_000548.5(TSC2):c.3403C>T (p.His1135Tyr)
|
rs2151455693
|
|
NM_000548.5(TSC2):c.3405T>A (p.His1135Gln)
|
|
|
NM_000548.5(TSC2):c.3406G>A (p.Gly1136Ser)
|
rs2089953185
|
|
NM_000548.5(TSC2):c.3406G>C (p.Gly1136Arg)
|
|
|
NM_000548.5(TSC2):c.3409C>G (p.Leu1137Val)
|
|
|
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.3411T>G (p.Leu1137=)
|
rs876660766
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro)
|
rs143168379
|
|
NM_000548.5(TSC2):c.3413G>T (p.Arg1138Leu)
|
rs143168379
|
|
NM_000548.5(TSC2):c.3415G>C (p.Val1139Leu)
|
rs759174655
|
|
NM_000548.5(TSC2):c.3416T>C (p.Val1139Ala)
|
rs2089954332
|
|
NM_000548.5(TSC2):c.3417T>C (p.Val1139=)
|
|
|
NM_000548.5(TSC2):c.3419G>A (p.Gly1140Asp)
|
rs2089954788
|
|
NM_000548.5(TSC2):c.3419G>T (p.Gly1140Val)
|
rs2089954788
|
|
NM_000548.5(TSC2):c.3420C>G (p.Gly1140=)
|
|
|
NM_000548.5(TSC2):c.3422C>G (p.Ala1141Gly)
|
|
|
NM_000548.5(TSC2):c.3424C>G (p.Leu1142Val)
|
rs1060504111
|
|
NM_000548.5(TSC2):c.3424C>T (p.Leu1142=)
|
rs1060504111
|
|
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)
|
rs796053513
|
|
NM_000548.5(TSC2):c.3428A>G (p.Asp1143Gly)
|
rs796053495
|
|
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val)
|
rs796053495
|
|
NM_000548.5(TSC2):c.3429C>G (p.Asp1143Glu)
|
|
|
NM_000548.5(TSC2):c.342G>C (p.Glu114Asp)
|
rs1555497542
|
|
NM_000548.5(TSC2):c.3430G>C (p.Val1144Leu)
|
|
|
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)
|
rs45517294
|
|
NM_000548.5(TSC2):c.3431T>C (p.Val1144Ala)
|
|
|
NM_000548.5(TSC2):c.3432G>T (p.Val1144=)
|
rs564724053
|
|
NM_000548.5(TSC2):c.3433_3437delinsGCA (p.Pro1145fs)
|
rs2089956522
|
|
NM_000548.5(TSC2):c.3434del (p.Pro1145fs)
|
rs2151456652
|
|
NM_000548.5(TSC2):c.3435G>T (p.Pro1145=)
|
rs749633483
|
|
NM_000548.5(TSC2):c.3437C>T (p.Ala1146Val)
|
rs2089957253
|
|
NM_000548.5(TSC2):c.3438C>T (p.Ala1146=)
|
rs755204133
|
|
NM_000548.5(TSC2):c.3439dup (p.Ser1147fs)
|
rs2151456849
|
|
NM_000548.5(TSC2):c.343C>A (p.Arg115Ser)
|
|
|
NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)
|
rs1256047792
|
|
NM_000548.5(TSC2):c.3440C>A (p.Ser1147Tyr)
|
rs779149155
|
|
NM_000548.5(TSC2):c.3440C>T (p.Ser1147Phe)
|
rs779149155
|
|
NM_000548.5(TSC2):c.3441C>T (p.Ser1147=)
|
|
|
NM_000548.5(TSC2):c.3442C>A (p.Gln1148Lys)
|
rs45477491
|
|
NM_000548.5(TSC2):c.3442C>G (p.Gln1148Glu)
|
|
|
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)
|
rs45477491
|
|
NM_000548.5(TSC2):c.3443A>C (p.Gln1148Pro)
|
rs1217539900
|
|
NM_000548.5(TSC2):c.3443A>G (p.Gln1148Arg)
|
|
|
NM_000548.5(TSC2):c.3443A>T (p.Gln1148Leu)
|
|
|
NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu)
|
rs1265832990
|
|
NM_000548.5(TSC2):c.3447C>G (p.Phe1149Leu)
|
rs1265832990
|
|
NM_000548.5(TSC2):c.3448C>G (p.Leu1150Val)
|
rs1060504121
|
|
NM_000548.5(TSC2):c.3448C>T (p.Leu1150=)
|
rs1060504121
|
|
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)
|
rs764529584
|
|
NM_000548.5(TSC2):c.344G>T (p.Arg115Leu)
|
rs764529584
|
|
NM_000548.5(TSC2):c.3450G>A (p.Leu1150=)
|
|
|
NM_000548.5(TSC2):c.3450G>C (p.Leu1150=)
|
rs2151457176
|
|
NM_000548.5(TSC2):c.3453C>A (p.Gly1151=)
|
rs1596389809
|
|
NM_000548.5(TSC2):c.3453C>T (p.Gly1151=)
|
rs1596389809
|
|
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly)
|
rs772215032
|
|
NM_000548.5(TSC2):c.3455G>A (p.Ser1152Asn)
|
rs2089960768
|
|
NM_000548.5(TSC2):c.3455G>T (p.Ser1152Ile)
|
|
|
NM_000548.5(TSC2):c.3455del (p.Ser1152fs)
|
|
|
NM_000548.5(TSC2):c.3456T>C (p.Ser1152=)
|
|
|
NM_000548.5(TSC2):c.3457G>A (p.Ala1153Thr)
|
rs1352230225
|
|
NM_000548.5(TSC2):c.3458C>T (p.Ala1153Val)
|
|
|
NM_000548.5(TSC2):c.3459C>G (p.Ala1153=)
|
rs1596389837
|
|
NM_000548.5(TSC2):c.3459C>T (p.Ala1153=)
|
|
|
NM_000548.5(TSC2):c.3460A>C (p.Thr1154Pro)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3460A>T (p.Thr1154Ser)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3461C>G (p.Thr1154Ser)
|
rs377137483
|
|
NM_000548.5(TSC2):c.3464C>T (p.Ser1155Phe)
|
rs1060500948
|
|
NM_000548.5(TSC2):c.3465T>A (p.Ser1155=)
|
|
|
NM_000548.5(TSC2):c.3466C>T (p.Pro1156Ser)
|
|
|
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu)
|
rs144126969
|
|
NM_000548.5(TSC2):c.3469G>A (p.Gly1157Arg)
|
rs1555511390
|
|
NM_000548.5(TSC2):c.346T>G (p.Leu116Val)
|
|
|
NM_000548.5(TSC2):c.3470G>A (p.Gly1157Glu)
|
|
|
NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala)
|
rs1477039147
|
|
NM_000548.5(TSC2):c.3471A>G (p.Gly1157=)
|
rs1192862238
|
|
NM_000548.5(TSC2):c.3472C>A (p.Pro1158Thr)
|
rs759350468
|
|
NM_000548.5(TSC2):c.3472C>T (p.Pro1158Ser)
|
rs759350468
|
|
NM_000548.5(TSC2):c.3473C>G (p.Pro1158Arg)
|
rs992338076
|
|
NM_000548.5(TSC2):c.3473C>T (p.Pro1158Leu)
|
|
|
NM_000548.5(TSC2):c.3473dup (p.Arg1159fs)
|
rs2151458037
|
|
NM_000548.5(TSC2):c.3474A>G (p.Pro1158=)
|
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.347del (p.Leu116fs)
|
rs1567398983
|
|
NM_000548.5(TSC2):c.3481G>A (p.Ala1161Thr)
|
rs754177014
|
|
NM_000548.5(TSC2):c.3483A>T (p.Ala1161=)
|
|
|
NM_000548.5(TSC2):c.3484C>G (p.Pro1162Ala)
|
rs895935495
|
|
NM_000548.5(TSC2):c.3485C>G (p.Pro1162Arg)
|
|
|
NM_000548.5(TSC2):c.3486A>T (p.Pro1162=)
|
rs1277144134
|
|
NM_000548.5(TSC2):c.3487G>C (p.Ala1163Pro)
|
rs560522093
|
|
NM_000548.5(TSC2):c.3488C>A (p.Ala1163Asp)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.3488C>G (p.Ala1163Gly)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.3488C>T (p.Ala1163Val)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.348G>A (p.Leu116=)
|
rs2151040222
|
|
NM_000548.5(TSC2):c.3490G>A (p.Ala1164Thr)
|
rs776579875
|
|
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser)
|
rs776579875
|
|
NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu)
|
rs375444767
|
|
NM_000548.5(TSC2):c.3495A>G (p.Lys1165=)
|
rs1555511443
|
|
NM_000548.5(TSC2):c.3495A>T (p.Lys1165Asn)
|
rs1555511443
|
|
NM_000548.5(TSC2):c.3497C>G (p.Pro1166Arg)
|
rs762650392
|
|
NM_000548.5(TSC2):c.3498T>C (p.Pro1166=)
|
rs2151458951
|
|
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)
|
rs45512692
|
|
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp)
|
rs2151459095
|
|
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
|
|
|
NM_000548.5(TSC2):c.3503A>G (p.Lys1168Arg)
|
|
|
NM_000548.5(TSC2):c.3504G>A (p.Lys1168=)
|
|
|
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3505G>T (p.Ala1169Ser)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3505del (p.Ala1169fs)
|
rs2151459190
|
|
NM_000548.5(TSC2):c.3506C>T (p.Ala1169Val)
|
|
|
NM_000548.5(TSC2):c.3507C>T (p.Ala1169=)
|
rs2089968510
|
|
NM_000548.5(TSC2):c.3508T>C (p.Ser1170Pro)
|
|
|
NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu)
|
rs45517296
|
|
NM_000548.5(TSC2):c.350G>A (p.Gly117Glu)
|
rs1596264690
|
|
NM_000548.5(TSC2):c.3510_3511delinsCA (p.Ala1171Thr)
|
|
|
NM_000548.5(TSC2):c.3512C>G (p.Ala1171Gly)
|
rs2151459473
|
|
NM_000548.5(TSC2):c.3512C>T (p.Ala1171Val)
|
|
|
NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp)
|
rs1567504268
|
|
NM_000548.5(TSC2):c.3516C>A (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3517A>G (p.Thr1173Ala)
|
|
|
NM_000548.5(TSC2):c.3517A>T (p.Thr1173Ser)
|
rs766827673
|
|
NM_000548.5(TSC2):c.3518C>G (p.Thr1173Ser)
|
|
|
NM_000548.5(TSC2):c.3519C>A (p.Thr1173=)
|
|
|
NM_000548.5(TSC2):c.3519C>G (p.Thr1173=)
|
|
|
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=)
|
rs754306983
|
|
NM_000548.5(TSC2):c.351G>A (p.Gly117=)
|
rs1555497554
|
|
NM_000548.5(TSC2):c.351G>C (p.Gly117=)
|
|
|
NM_000548.5(TSC2):c.3520del (p.Arg1174fs)
|
rs137854326
|
|
NM_000548.5(TSC2):c.3521G>T (p.Arg1174Leu)
|
rs368666554
|
|
NM_000548.5(TSC2):c.3522G>C (p.Arg1174=)
|
rs2151459876
|
|
NM_000548.5(TSC2):c.3523dup (p.Val1175fs)
|
rs2151459858
|
|
NM_000548.5(TSC2):c.3524T>C (p.Val1175Ala)
|
|
|
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu)
|
rs753110463
|
|
NM_000548.5(TSC2):c.3529G>A (p.Val1177Met)
|
rs1417220666
|
|
NM_000548.5(TSC2):c.352G>A (p.Val118Ile)
|
rs878854094
|
|
NM_000548.5(TSC2):c.352del (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu)
|
rs1567504468
|
|
NM_000548.5(TSC2):c.3530T>G (p.Val1177Gly)
|
rs1567504468
|
|
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)
|
rs45517297
|
|
NM_000548.5(TSC2):c.3533A>G (p.Gln1178Arg)
|
rs2151460233
|
|
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del)
|
rs1060500937
|
|
NM_000548.5(TSC2):c.3539A>G (p.Lys1180Arg)
|
|
|
NM_000548.5(TSC2):c.3541A>G (p.Thr1181Ala)
|
rs2151460498
|
|
NM_000548.5(TSC2):c.3542C>A (p.Thr1181Lys)
|
rs373481458
|
|
NM_000548.5(TSC2):c.3542C>G (p.Thr1181Arg)
|
rs373481458
|
|
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=)
|
rs139313964
|
|
NM_000548.5(TSC2):c.3544A>G (p.Asn1182Asp)
|
rs2089974047
|
|
NM_000548.5(TSC2):c.3544A>T (p.Asn1182Tyr)
|
|
|
NM_000548.5(TSC2):c.3545A>C (p.Asn1182Thr)
|
|
|
NM_000548.5(TSC2):c.3545A>G (p.Asn1182Ser)
|
rs2089974168
|
|
NM_000548.5(TSC2):c.3546C>T (p.Asn1182=)
|
|
|
NM_000548.5(TSC2):c.3549G>A (p.Leu1183=)
|
rs1596390611
|
|
NM_000548.5(TSC2):c.3549G>C (p.Leu1183=)
|
rs1596390611
|
|
NM_000548.5(TSC2):c.3549G>T (p.Leu1183=)
|
|
|
NM_000548.5(TSC2):c.354C>A (p.Val118=)
|
|
|
NM_000548.5(TSC2):c.354C>T (p.Val118=)
|
rs762228318
|
|
NM_000548.5(TSC2):c.3551_3556dup (p.Ala1185_Tyr1186insSerAla)
|
|
|
NM_000548.5(TSC2):c.3552G>T (p.Ala1184=)
|
|
|
NM_000548.5(TSC2):c.3553G>A (p.Ala1185Thr)
|
rs2151460899
|
|
NM_000548.5(TSC2):c.3555C>A (p.Ala1185=)
|
rs745762286
|
|
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser)
|
rs137854421
|
|
NM_000548.5(TSC2):c.3557A>T (p.Tyr1186Phe)
|
rs137854421
|
|
NM_000548.5(TSC2):c.3558T>C (p.Tyr1186=)
|
rs1202939879
|
|
NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter)
|
rs1202939879
|
|
NM_000548.5(TSC2):c.3559G>A (p.Val1187Met)
|
rs2151461121
|
|
NM_000548.5(TSC2):c.3559dup (p.Val1187fs)
|
|
|
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)
|
rs1596264734
|
|
NM_000548.5(TSC2):c.3560_3567del (p.Val1187fs)
|
|
|
NM_000548.5(TSC2):c.3561G>A (p.Val1187=)
|
rs2151461210
|
|
NM_000548.5(TSC2):c.3562C>A (p.Pro1188Thr)
|
rs2151461242
|
|
NM_000548.5(TSC2):c.3562C>T (p.Pro1188Ser)
|
|
|
NM_000548.5(TSC2):c.3563C>T (p.Pro1188Leu)
|
|
|
NM_000548.5(TSC2):c.3564C>G (p.Pro1188=)
|
rs1253270588
|
|
NM_000548.5(TSC2):c.3564C>T (p.Pro1188=)
|
|
|
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3565C>T (p.Leu1189=)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3568C>G (p.Leu1190Val)
|
rs2151461483
|
|
NM_000548.5(TSC2):c.3568C>T (p.Leu1190=)
|
rs2151461483
|
|
NM_000548.5(TSC2):c.3573C>G (p.Thr1191=)
|
rs768318835
|
|
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)
|
rs45517298
|
|
NM_000548.5(TSC2):c.3575A>C (p.Gln1192Pro)
|
|
|
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg)
|
rs755559677
|
|
NM_000548.5(TSC2):c.3576G>A (p.Gln1192=)
|
|
|
NM_000548.5(TSC2):c.3576G>C (p.Gln1192His)
|
rs2151461822
|
|
NM_000548.5(TSC2):c.3576_3577delinsTT (p.Gln1192_Gly1193delinsHisCys)
|
|
|
NM_000548.5(TSC2):c.3578G>T (p.Gly1193Val)
|
rs2089978360
|
|
NM_000548.5(TSC2):c.357C>G (p.Leu119=)
|
rs1168763677
|
|
NM_000548.5(TSC2):c.357C>T (p.Leu119=)
|
rs1168763677
|
|
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter)
|
rs397515168
|
|
NM_000548.5(TSC2):c.3582G>A (p.Trp1194Ter)
|
rs2151462008
|
|
NM_000548.5(TSC2):c.3583G>A (p.Ala1195Thr)
|
|
|
NM_000548.5(TSC2):c.3583G>C (p.Ala1195Pro)
|
rs2089978833
|
|
NM_000548.5(TSC2):c.3584C>G (p.Ala1195Gly)
|
rs773951533
|
|
NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter)
|
rs1555511585
|
|
NM_000548.5(TSC2):c.3587A>G (p.Glu1196Gly)
|
rs2151462165
|
|
NM_000548.5(TSC2):c.3589A>C (p.Ile1197Leu)
|
rs2089979590
|
|
NM_000548.5(TSC2):c.3589A>G (p.Ile1197Val)
|
rs2089979590
|
|
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)
|
rs1131691602
|
|
NM_000548.5(TSC2):c.3590T>A (p.Ile1197Asn)
|
|
|
NM_000548.5(TSC2):c.3591C>G (p.Ile1197Met)
|
|
|
NM_000548.5(TSC2):c.3591C>T (p.Ile1197=)
|
rs765503216
|
|
NM_000548.5(TSC2):c.3592C>T (p.Leu1198=)
|
rs2151462335
|
|
NM_000548.5(TSC2):c.3592del (p.Leu1198fs)
|
|
|
NM_000548.5(TSC2):c.3594G>C (p.Leu1198=)
|
|
|
NM_000548.5(TSC2):c.3595G>A (p.Val1199Ile)
|
rs1596390891
|
|
NM_000548.5(TSC2):c.3595G>T (p.Val1199Phe)
|
rs1596390891
|
|
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly)
|
rs397515088
|
|
NM_000548.5(TSC2):c.3596_3598del (p.Val1199_Arg1200delinsGly)
|
rs2151462525
|
|
NM_000548.5(TSC2):c.3597C>G (p.Val1199=)
|
rs2151462541
|
|
NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly)
|
|
|
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln)
|
rs397515225
|
|
NM_000548.5(TSC2):c.359G>A (p.Arg120Lys)
|
rs2151040587
|
|
NM_000548.5(TSC2):c.3600G>T (p.Arg1200=)
|
|
|
NM_000548.5(TSC2):c.3602G>A (p.Arg1201Lys)
|
rs1596390955
|
|
NM_000548.5(TSC2):c.3604C>T (p.Pro1202Ser)
|
|
|
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)
|
rs772580979
|
|
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro)
|
rs397515265
|
|
NM_000548.5(TSC2):c.3608C>G (p.Thr1203Arg)
|
rs397515030
|
|
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
|
|
|
NM_000548.5(TSC2):c.3609A>C (p.Thr1203=)
|
|
|
NM_000548.5(TSC2):c.3609A>G (p.Thr1203=)
|
rs1567505082
|
|
NM_000548.5(TSC2):c.3610+10_3610+14dup
|
rs2151463108
|
|
NM_000548.5(TSC2):c.3610+11G>T
|
rs751767873
|
|
NM_000548.5(TSC2):c.3610+12_3610+13dup
|
|
|
NM_000548.5(TSC2):c.3610+13del
|
|
|
NM_000548.5(TSC2):c.3610+16G>A
|
|
|
NM_000548.5(TSC2):c.3610+17del
|
rs2151463362
|
|
NM_000548.5(TSC2):c.3610+18C>T
|
rs1253628641
|
|
NM_000548.5(TSC2):c.3610+19C>G
|
rs2151463426
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+1G>C
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+20T>A
|
rs2151463450
|
|
NM_000548.5(TSC2):c.3610+2T>C
|
|
|
NM_000548.5(TSC2):c.3610+419C>G
|
|
|
NM_000548.5(TSC2):c.3610+4C>G
|
rs201978396
|
|
NM_000548.5(TSC2):c.3610+5T>C
|
rs2151463070
|
|
NM_000548.5(TSC2):c.3610+8G>A
|
rs1338516319
|
|
NM_000548.5(TSC2):c.3610+9C>A
|
rs45467194
|
|
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)
|
rs1555511663
|
|
NM_000548.5(TSC2):c.3611-10G>C
|
rs372045362
|
|
NM_000548.5(TSC2):c.3611-11C>G
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-12C>A
|
rs2151480298
|
|
NM_000548.5(TSC2):c.3611-13G>A
|
rs2151480264
|
|
NM_000548.5(TSC2):c.3611-13del
|
rs2151480283
|
|
NM_000548.5(TSC2):c.3611-14T>C
|
|
|
NM_000548.5(TSC2):c.3611-15C>T
|
|
|
NM_000548.5(TSC2):c.3611-16G>A
|
rs2151480236
|
|
NM_000548.5(TSC2):c.3611-17T>C
|
rs2090146202
|
|
NM_000548.5(TSC2):c.3611-18G>T
|
|
|
NM_000548.5(TSC2):c.3611-1G>C
|
rs45517302
|
|
NM_000548.5(TSC2):c.3611-20A>G
|
|
|
NM_000548.5(TSC2):c.3611-2A>G
|
rs397515169
|
|
NM_000548.5(TSC2):c.3611-3C>T
|
rs753716627
|
|
NM_000548.5(TSC2):c.3611-4G>T
|
rs368926908
|
|
NM_000548.5(TSC2):c.3611-5C>A
|
rs200194551
|
|
NM_000548.5(TSC2):c.3611-5C>T
|
rs200194551
|
|
NM_000548.5(TSC2):c.3611-6C>T
|
rs989103352
|
|
NM_000548.5(TSC2):c.3611-8C>T
|
rs1596399469
|
|
NM_000548.5(TSC2):c.3611-9C>A
|
|
|
NM_000548.5(TSC2):c.3611-9C>T
|
rs45517304
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3611G>C (p.Gly1204Ala)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3612G>A (p.Gly1204=)
|
rs1555512292
|
|
NM_000548.5(TSC2):c.3612G>C (p.Gly1204=)
|
rs1555512292
|
|
NM_000548.5(TSC2):c.3614A>G (p.Asn1205Ser)
|
|
|
NM_000548.5(TSC2):c.3615C>G (p.Asn1205Lys)
|
rs924403519
|
|
NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro)
|
|
|
NM_000548.5(TSC2):c.3617C>G (p.Thr1206Ser)
|
rs2090150662
|
|
NM_000548.5(TSC2):c.3618C>A (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3618C>T (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3620G>C (p.Ser1207Thr)
|
|
|
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)
|
rs397514952
|
|
NM_000548.5(TSC2):c.3620dup (p.Ser1207fs)
|
rs2151480775
|
|
NM_000548.5(TSC2):c.3621C>T (p.Ser1207=)
|
rs2151480833
|
|
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3622dup (p.Trp1208fs)
|
|
|
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)
|
rs397514979
|
|
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter)
|
rs796053496
|
|
NM_000548.5(TSC2):c.3627G>A (p.Leu1209=)
|
rs2151480958
|
|
NM_000548.5(TSC2):c.362C>A (p.Ala121Asp)
|
|
|
NM_000548.5(TSC2):c.362C>T (p.Ala121Val)
|
rs767755750
|
|
NM_000548.5(TSC2):c.3632G>A (p.Ser1211Asn)
|
|
|
NM_000548.5(TSC2):c.3633C>T (p.Ser1211=)
|
rs2090152012
|
|
NM_000548.5(TSC2):c.3634C>A (p.Leu1212Met)
|
rs1358537146
|
|
NM_000548.5(TSC2):c.3634C>G (p.Leu1212Val)
|
rs1358537146
|
|
NM_000548.5(TSC2):c.3636G>A (p.Leu1212=)
|
rs778744545
|
|
NM_000548.5(TSC2):c.3637G>A (p.Glu1213Lys)
|
|
|
NM_000548.5(TSC2):c.3638A>T (p.Glu1213Val)
|
rs1555512322
|
|
NM_000548.5(TSC2):c.3641_3814+28del
|
rs1555512330
|
|
NM_000548.5(TSC2):c.3642C>A (p.Asn1214Lys)
|
|
|
NM_000548.5(TSC2):c.3642C>T (p.Asn1214=)
|
rs2151481160
|
|
NM_000548.5(TSC2):c.3643C>G (p.Pro1215Ala)
|
rs1555512332
|
|
NM_000548.5(TSC2):c.3643C>T (p.Pro1215Ser)
|
rs1555512332
|
|
NM_000548.5(TSC2):c.3644C>A (p.Pro1215Gln)
|
rs933257311
|
|
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu)
|
rs933257311
|
|
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.3645G>C (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.3645G>T (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.3646C>T (p.Leu1216Phe)
|
|
|
NM_000548.5(TSC2):c.3647_3648delinsCT (p.Leu1216Pro)
|
|
|
NM_000548.5(TSC2):c.3648C>G (p.Leu1216=)
|
rs777246414
|
|
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
|
|
|
NM_000548.5(TSC2):c.3649A>C (p.Ser1217Arg)
|
|
|
NM_000548.5(TSC2):c.364del (p.Leu122fs)
|
rs2085499583
|
|
NM_000548.5(TSC2):c.3650G>A (p.Ser1217Asn)
|
rs2151481330
|
|
NM_000548.5(TSC2):c.3653_3654del (p.Pro1218fs)
|
rs2151481415
|
|
NM_000548.5(TSC2):c.3654T>C (p.Pro1218=)
|
|
|
NM_000548.5(TSC2):c.3657C>T (p.Phe1219=)
|
rs1596399888
|
|
NM_000548.5(TSC2):c.3659C>G (p.Ser1220Cys)
|
rs2090155420
|
|
NM_000548.5(TSC2):c.3659C>T (p.Ser1220Phe)
|
rs2090155420
|
|
NM_000548.5(TSC2):c.365T>A (p.Leu122His)
|
rs756263581
|
|
NM_000548.5(TSC2):c.365T>C (p.Leu122Pro)
|
|
|
NM_000548.5(TSC2):c.3661T>A (p.Ser1221Thr)
|
rs2151481521
|
|
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)
|
rs45517305
|
|
NM_000548.5(TSC2):c.3662C>T (p.Ser1221Leu)
|
rs45517305
|
|
NM_000548.5(TSC2):c.3663G>C (p.Ser1221=)
|
rs137854268
|
|
NM_000548.5(TSC2):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_000548.5(TSC2):c.3669C>T (p.Ile1223=)
|
rs2151481655
|
|
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)
|
rs137854223
|
|
NM_000548.5(TSC2):c.366C>G (p.Leu122=)
|
|
|
NM_000548.5(TSC2):c.366C>T (p.Leu122=)
|
rs1397677711
|
|
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)
|
rs1342475885
|
|
NM_000548.5(TSC2):c.3670A>C (p.Asn1224His)
|
|
|
NM_000548.5(TSC2):c.3671A>G (p.Asn1224Ser)
|
rs1434962054
|
|
NM_000548.5(TSC2):c.3671ACA[1] (p.Asn1225del)
|
rs2151481692
|
|
NM_000548.5(TSC2):c.3672C>T (p.Asn1224=)
|
rs2151481746
|
|
NM_000548.5(TSC2):c.3674A>G (p.Asn1225Ser)
|
rs1037743572
|
|
NM_000548.5(TSC2):c.3677T>C (p.Met1226Thr)
|
rs2090157003
|
|
NM_000548.5(TSC2):c.3678G>A (p.Met1226Ile)
|
rs2151481846
|
|
NM_000548.5(TSC2):c.3679C>T (p.Pro1227Ser)
|
rs1555512392
|
|
NM_000548.5(TSC2):c.367T>C (p.Phe123Leu)
|
|
|
NM_000548.5(TSC2):c.3680C>T (p.Pro1227Leu)
|
rs2090157247
|
|
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=)
|
rs181279399
|
|
NM_000548.5(TSC2):c.3682C>A (p.Leu1228Met)
|
rs938124834
|
|
NM_000548.5(TSC2):c.3682del (p.Leu1228fs)
|
|
|
NM_000548.5(TSC2):c.3683del (p.Leu1228fs)
|
rs1596400038
|
|
NM_000548.5(TSC2):c.3684G>A (p.Leu1228=)
|
rs185457522
|
|
NM_000548.5(TSC2):c.3684dup (p.Gln1229fs)
|
|
|
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)
|
rs45517306
|
|
NM_000548.5(TSC2):c.3686A>G (p.Gln1229Arg)
|
rs1060500962
|
|
NM_000548.5(TSC2):c.3687G>A (p.Gln1229=)
|
rs140384709
|
|
NM_000548.5(TSC2):c.3687G>T (p.Gln1229His)
|
|
|
NM_000548.5(TSC2):c.3688G>A (p.Glu1230Lys)
|
|
|
NM_000548.5(TSC2):c.3688G>C (p.Glu1230Gln)
|
rs2151482097
|
|
NM_000548.5(TSC2):c.3691C>T (p.Leu1231=)
|
|
|
NM_000548.5(TSC2):c.3692T>C (p.Leu1231Pro)
|
rs1055582947
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3696T>G (p.Ser1232=)
|
rs767812115
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.3697_3698insGA (p.Asn1233fs)
|
rs2090159838
|
|
NM_000548.5(TSC2):c.3698A>T (p.Asn1233Ile)
|
rs1412376534
|
|
NM_000548.5(TSC2):c.369C>G (p.Phe123Leu)
|
rs1567399252
|
|
NM_000548.5(TSC2):c.36G>A (p.Lys12=)
|
rs1596233951
|
|
NM_000548.5(TSC2):c.3700G>A (p.Ala1234Thr)
|
rs2090160412
|
|
NM_000548.5(TSC2):c.3701C>T (p.Ala1234Val)
|
|
|
NM_000548.5(TSC2):c.3703C>G (p.Leu1235Val)
|
|
|
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe)
|
rs137854303
|
|
NM_000548.5(TSC2):c.3706A>T (p.Met1236Leu)
|
rs766501228
|
|
NM_000548.5(TSC2):c.3706dup (p.Met1236fs)
|
rs2151482554
|
|
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr)
|
rs1567510644
|
|
NM_000548.5(TSC2):c.3708G>A (p.Met1236Ile)
|
|
|
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)
|
rs547231441
|
|
NM_000548.5(TSC2):c.3712G>A (p.Ala1238Thr)
|
|
|
NM_000548.5(TSC2):c.3719G>A (p.Arg1240His)
|
rs1567510707
|
|
NM_000548.5(TSC2):c.3719G>T (p.Arg1240Leu)
|
rs1567510707
|
|
NM_000548.5(TSC2):c.3720C>G (p.Arg1240=)
|
rs2151482826
|
|
NM_000548.5(TSC2):c.3720C>T (p.Arg1240=)
|
rs2151482826
|
|
NM_000548.5(TSC2):c.3721T>C (p.Phe1241Leu)
|
rs2090162360
|
|
NM_000548.5(TSC2):c.3723C>A (p.Phe1241Leu)
|
rs45486193
|
|
NM_000548.5(TSC2):c.3725A>G (p.Lys1242Arg)
|
rs1567510728
|
|
NM_000548.5(TSC2):c.3726G>A (p.Lys1242=)
|
rs1596400322
|
|
NM_000548.5(TSC2):c.3726G>C (p.Lys1242Asn)
|
rs1596400322
|
|
NM_000548.5(TSC2):c.3728A>G (p.Glu1243Gly)
|
|
|
NM_000548.5(TSC2):c.3729G>A (p.Glu1243=)
|
|
|
NM_000548.5(TSC2):c.372T>C (p.Phe124=)
|
rs753922923
|
|
NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAGCCCTCTTCTTT (p.Lys125delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_000548.5(TSC2):c.3730C>A (p.His1244Asn)
|
rs993614997
|
|
NM_000548.5(TSC2):c.3731A>C (p.His1244Pro)
|
rs2151483079
|
|
NM_000548.5(TSC2):c.3731A>G (p.His1244Arg)
|
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
NM_000548.5(TSC2):c.3734G>C (p.Arg1245Pro)
|
rs746588726
|
|
NM_000548.5(TSC2):c.3734_3745del (p.Arg1245_Ala1248del)
|
|
|
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=)
|
rs756959674
|
|
NM_000548.5(TSC2):c.3736G>A (p.Asp1246Asn)
|
rs1596400382
|
|
NM_000548.5(TSC2):c.3736G>C (p.Asp1246His)
|
rs1596400382
|
|
NM_000548.5(TSC2):c.3736del (p.Asp1246fs)
|
rs796053516
|
|
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg)
|
rs2151483328
|
|
NM_000548.5(TSC2):c.3740C>T (p.Thr1247Ile)
|
|
|
NM_000548.5(TSC2):c.3743C>T (p.Ala1248Val)
|
rs745342041
|
|
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=)
|
rs45517307
|
|
NM_000548.5(TSC2):c.3745C>A (p.Leu1249Met)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3745C>G (p.Leu1249Val)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3746T>C (p.Leu1249Pro)
|
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
NM_000548.5(TSC2):c.3749A>G (p.Tyr1250Cys)
|
rs1596400479
|
|
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.3751A>G (p.Lys1251Glu)
|
rs2090165820
|
|
NM_000548.5(TSC2):c.3752del (p.Lys1251fs)
|
|
|
NM_000548.5(TSC2):c.3753G>A (p.Lys1251=)
|
|
|
NM_000548.5(TSC2):c.3753G>T (p.Lys1251Asn)
|
rs1567511020
|
|
NM_000548.5(TSC2):c.3756A>C (p.Ser1252=)
|
|
|
NM_000548.5(TSC2):c.3756A>G (p.Ser1252=)
|
rs1228112359
|
|
NM_000548.5(TSC2):c.3759G>C (p.Leu1253=)
|
rs878854095
|
|
NM_000548.5(TSC2):c.3759del (p.Ser1254fs)
|
rs1555512497
|
|
NM_000548.5(TSC2):c.375G>A (p.Lys125=)
|
rs778928295
|
|
NM_000548.5(TSC2):c.3761C>A (p.Ser1254Ter)
|
|
|
NM_000548.5(TSC2):c.3761C>G (p.Ser1254Trp)
|
rs1596400563
|
|
NM_000548.5(TSC2):c.3761C>T (p.Ser1254Leu)
|
rs1596400563
|
|
NM_000548.5(TSC2):c.3762G>T (p.Ser1254=)
|
|
|
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu)
|
rs1596400594
|
|
NM_000548.5(TSC2):c.376G>A (p.Val126Ile)
|
rs1458070269
|
|
NM_000548.5(TSC2):c.376G>T (p.Val126Phe)
|
rs1458070269
|
|
NM_000548.5(TSC2):c.3772G>C (p.Ala1258Pro)
|
rs2090168528
|
|
NM_000548.5(TSC2):c.3773C>G (p.Ala1258Gly)
|
rs1060500958
|
|
NM_000548.5(TSC2):c.3774C>T (p.Ala1258=)
|
rs876659596
|
|
NM_000548.5(TSC2):c.3774del (p.Ser1259fs)
|
|
|
NM_000548.5(TSC2):c.3776G>A (p.Ser1259Asn)
|
rs1596400661
|
|
NM_000548.5(TSC2):c.3777del (p.Ser1259fs)
|
rs1114167459
|
|
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala)
|
rs1310948800
|
|
NM_000548.5(TSC2):c.3779C>G (p.Thr1260Arg)
|
rs776738338
|
|
NM_000548.5(TSC2):c.377T>C (p.Val126Ala)
|
rs2085502098
|
|
NM_000548.5(TSC2):c.3780_3787del (p.Ala1261fs)
|
rs2090169575
|
|
NM_000548.5(TSC2):c.3781G>A (p.Ala1261Thr)
|
rs2090170043
|
|
NM_000548.5(TSC2):c.3782C>T (p.Ala1261Val)
|
rs45517310
|
|
NM_000548.5(TSC2):c.3785A>G (p.Lys1262Arg)
|
rs765255206
|
|
NM_000548.5(TSC2):c.3785A>T (p.Lys1262Ile)
|
|
|
NM_000548.5(TSC2):c.3786A>G (p.Lys1262=)
|
rs752513898
|
|
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs)
|
rs2090170656
|
|
NM_000548.5(TSC2):c.3788C>A (p.Pro1263His)
|
|
|
NM_000548.5(TSC2):c.3789C>G (p.Pro1263=)
|
|
|
NM_000548.5(TSC2):c.3789C>T (p.Pro1263=)
|
rs2151484598
|
|
NM_000548.5(TSC2):c.3790C>A (p.Pro1264Thr)
|
|
|
NM_000548.5(TSC2):c.3790C>T (p.Pro1264Ser)
|
rs2090171531
|
|
NM_000548.5(TSC2):c.3791CTC[1] (p.Pro1265del)
|
rs876658759
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
NM_000548.5(TSC2):c.3792T>C (p.Pro1264=)
|
rs763855971
|
|
NM_000548.5(TSC2):c.3794C>T (p.Pro1265Leu)
|
rs1424206593
|
|
NM_000548.5(TSC2):c.3794dup (p.Leu1266fs)
|
|
|
NM_000548.5(TSC2):c.3795T>A (p.Pro1265=)
|
|
|
NM_000548.5(TSC2):c.3796C>G (p.Leu1266Val)
|
|
|
NM_000548.5(TSC2):c.3796C>T (p.Leu1266=)
|
rs2090172721
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=)
|
rs1187813837
|
|
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)
|
rs1207714822
|
|
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys)
|
rs1555494586
|
|
NM_000548.5(TSC2):c.37_39del (p.Glu13del)
|
rs778509364
|
|
NM_000548.5(TSC2):c.3800C>T (p.Pro1267Leu)
|
rs1245115663
|
|
NM_000548.5(TSC2):c.3801T>C (p.Pro1267=)
|
|
|
NM_000548.5(TSC2):c.3803G>C (p.Arg1268Pro)
|
|
|
NM_000548.5(TSC2):c.3803G>T (p.Arg1268Leu)
|
rs200577441
|
|
NM_000548.5(TSC2):c.3804C>T (p.Arg1268=)
|
rs1358080651
|
|
NM_000548.5(TSC2):c.3805T>C (p.Ser1269Pro)
|
rs991523072
|
|
NM_000548.5(TSC2):c.3806C>G (p.Ser1269Cys)
|
|
|
NM_000548.5(TSC2):c.3807C>T (p.Ser1269=)
|
rs1596400911
|
|
NM_000548.5(TSC2):c.3808A>C (p.Asn1270His)
|
|
|
NM_000548.5(TSC2):c.380T>C (p.Ile127Thr)
|
|
|
NM_000548.5(TSC2):c.3810C>T (p.Asn1270=)
|
|
|
NM_000548.5(TSC2):c.3812C>G (p.Thr1271Arg)
|
rs1567511623
|
|
NM_000548.5(TSC2):c.3812C>T (p.Thr1271Ile)
|
rs1567511623
|
|
NM_000548.5(TSC2):c.3813A>G (p.Thr1271=)
|
rs1555512577
|
|
NM_000548.5(TSC2):c.3814+13G>A
|
|
|
NM_000548.5(TSC2):c.3814+14C>A
|
|
|
NM_000548.5(TSC2):c.3814+17G>T
|
|
|
NM_000548.5(TSC2):c.3814+18C>T
|
rs2090177503
|
|
NM_000548.5(TSC2):c.3814+19C>G
|
|
|
NM_000548.5(TSC2):c.3814+1G>A
|
rs397514902
|
|
NM_000548.5(TSC2):c.3814+20T>C
|
|
|
NM_000548.5(TSC2):c.3814+5G>A
|
rs1555512582
|
|
NM_000548.5(TSC2):c.3814+8G>A
|
|
|
NM_000548.5(TSC2):c.3814+8G>C
|
rs1297489453
|
|
NM_000548.5(TSC2):c.3814+8G>T
|
|
|
NM_000548.5(TSC2):c.3814G>C (p.Val1272Leu)
|
rs2090175224
|
|
NM_000548.5(TSC2):c.3815-14G>A
|
|
|
NM_000548.5(TSC2):c.3815-14dup
|
|
|
NM_000548.5(TSC2):c.3815-15G>T
|
|
|
NM_000548.5(TSC2):c.3815-16C>A
|
|
|
NM_000548.5(TSC2):c.3815-16del
|
rs2151492015
|
|
NM_000548.5(TSC2):c.3815-18C>G
|
rs947736117
|
|
NM_000548.5(TSC2):c.3815-18C>T
|
|
|
NM_000548.5(TSC2):c.3815-21G>A
|
|
|
NM_000548.5(TSC2):c.3815-2A>G
|
|
|
NM_000548.5(TSC2):c.3815-2A>T
|
rs1567513626
|
|
NM_000548.5(TSC2):c.3815-3C>G
|
rs770054036
|
|
NM_000548.5(TSC2):c.3815-4G>A
|
rs1410163756
|
|
NM_000548.5(TSC2):c.3815-56_3815-15del
|
rs2151491359
|
|
NM_000548.5(TSC2):c.3815-5T>A
|
|
|
NM_000548.5(TSC2):c.3815-7C>T
|
|
|
NM_000548.5(TSC2):c.3815-8C>G
|
rs1596404187
|
|
NM_000548.5(TSC2):c.3815-8C>T
|
rs1596404187
|
|
NM_000548.5(TSC2):c.3815-9C>G
|
rs1060504091
|
|
NM_000548.5(TSC2):c.3815-9C>T
|
rs1060504091
|
|
NM_000548.5(TSC2):c.3815T>C (p.Val1272Ala)
|
|
|
NM_000548.5(TSC2):c.3815T>G (p.Val1272Gly)
|
rs1319528505
|
|
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)
|
rs1596404280
|
|
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs)
|
rs1555512845
|
|
NM_000548.5(TSC2):c.3819C>A (p.Ala1273=)
|
rs1248167345
|
|
NM_000548.5(TSC2):c.3819C>G (p.Ala1273=)
|
rs1248167345
|
|
NM_000548.5(TSC2):c.3819C>T (p.Ala1273=)
|
|
|
NM_000548.5(TSC2):c.381C>T (p.Ile127=)
|
|
|
NM_000548.5(TSC2):c.3820T>C (p.Ser1274Pro)
|
rs534533805
|
|
NM_000548.5(TSC2):c.3823T>C (p.Phe1275Leu)
|
rs2090258908
|
|
NM_000548.5(TSC2):c.3824del (p.Phe1275fs)
|
rs1185513978
|
|
NM_000548.5(TSC2):c.3825C>A (p.Phe1275Leu)
|
rs761713908
|
|
NM_000548.5(TSC2):c.3826T>G (p.Ser1276Ala)
|
rs2151492520
|
|
NM_000548.5(TSC2):c.3828C>T (p.Ser1276=)
|
|
|
NM_000548.5(TSC2):c.3829T>G (p.Ser1277Ala)
|
rs2090259818
|
|
NM_000548.5(TSC2):c.382A>C (p.Lys128Gln)
|
|
|
NM_000548.5(TSC2):c.382A>G (p.Lys128Glu)
|
|
|
NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe)
|
rs1330915229
|
|
NM_000548.5(TSC2):c.3833T>C (p.Leu1278Pro)
|
rs568015523
|
|
NM_000548.5(TSC2):c.3834G>C (p.Leu1278=)
|
rs766029525
|
|
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)
|
rs1449727037
|
|
NM_000548.5(TSC2):c.3835dup (p.Tyr1279fs)
|
|
|
NM_000548.5(TSC2):c.3837C>G (p.Tyr1279Ter)
|
rs1555512861
|
|
NM_000548.5(TSC2):c.3837C>T (p.Tyr1279=)
|
rs1555512861
|
|
NM_000548.5(TSC2):c.3839A>G (p.Gln1280Arg)
|
|
|
NM_000548.5(TSC2):c.3839A>T (p.Gln1280Leu)
|
rs1596404506
|
|
NM_000548.5(TSC2):c.383A>C (p.Lys128Thr)
|
|
|
NM_000548.5(TSC2):c.3840G>C (p.Gln1280His)
|
rs1060500941
|
|
NM_000548.5(TSC2):c.3841T>G (p.Ser1281Ala)
|
rs1358527360
|
|
NM_000548.5(TSC2):c.3844A>C (p.Ser1282Arg)
|
rs45446700
|
|
NM_000548.5(TSC2):c.3845G>T (p.Ser1282Ile)
|
rs1596404603
|
|
NM_000548.5(TSC2):c.3846C>T (p.Ser1282=)
|
rs1596404651
|
|
NM_000548.5(TSC2):c.3846_3847del (p.Ser1282fs)
|
|
|
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg)
|
rs997331401
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.384G>A (p.Lys128=)
|
rs748095129
|
|
NM_000548.5(TSC2):c.3850C>G (p.Gln1284Glu)
|
|
|
NM_000548.5(TSC2):c.3850_3856del (p.Gln1284fs)
|
rs752493138
|
|
NM_000548.5(TSC2):c.3853G>A (p.Gly1285Arg)
|
rs2090264891
|
|
NM_000548.5(TSC2):c.3854G>A (p.Gly1285Glu)
|
rs2090265081
|
|
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)
|
rs891262541
|
|
NM_000548.5(TSC2):c.3856C>T (p.Gln1286Ter)
|
rs2151493215
|
|
NM_000548.5(TSC2):c.3859C>T (p.Leu1287=)
|
|
|
NM_000548.5(TSC2):c.3861G>C (p.Leu1287=)
|
rs2151493248
|
|
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro)
|
rs1567514069
|
|
NM_000548.5(TSC2):c.3864C>T (p.His1288=)
|
rs2151493292
|
|
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly)
|
rs2090265922
|
|
NM_000548.5(TSC2):c.3867G>A (p.Arg1289=)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)
|
rs1567514084
|
|
NM_000548.5(TSC2):c.386A>T (p.Asp129Val)
|
rs1555497612
|
|
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg)
|
rs754466663
|
|
NM_000548.5(TSC2):c.3871G>T (p.Val1291Phe)
|
rs201135184
|
|
NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro)
|
rs1166042912
|
|
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe)
|
rs796053497
|
|
NM_000548.5(TSC2):c.3876C>A (p.Ser1292=)
|
rs1173548095
|
|
NM_000548.5(TSC2):c.3876C>T (p.Ser1292=)
|
|
|
NM_000548.5(TSC2):c.3877T>C (p.Trp1293Arg)
|
|
|
NM_000548.5(TSC2):c.3878G>A (p.Trp1293Ter)
|
rs2090268487
|
|
NM_000548.5(TSC2):c.387T>A (p.Asp129Glu)
|
rs1202650869
|
|
NM_000548.5(TSC2):c.3880G>A (p.Ala1294Thr)
|
|
|
NM_000548.5(TSC2):c.3881dup (p.Asp1295fs)
|
rs1555512887
|
|
NM_000548.5(TSC2):c.3883+10C>G
|
|
|
NM_000548.5(TSC2):c.3883+10C>T
|
|
|
NM_000548.5(TSC2):c.3883+11_3883+12del
|
rs878854096
|
|
NM_000548.5(TSC2):c.3883+14G>C
|
|
|
NM_000548.5(TSC2):c.3883+15A>G
|
rs112925751
|
|
NM_000548.5(TSC2):c.3883+15A>T
|
|
|
NM_000548.5(TSC2):c.3883+15_3883+16del
|
rs137854278
|
|
NM_000548.5(TSC2):c.3883+16G>A
|
|
|
NM_000548.5(TSC2):c.3883+1G>A
|
rs2090268989
|
|
NM_000548.5(TSC2):c.3883+1G>T
|
|
|
NM_000548.5(TSC2):c.3883+2T>C
|
|
|
NM_000548.5(TSC2):c.3883+3A>G
|
rs1366233650
|
|
NM_000548.5(TSC2):c.3883+4T>C
|
rs2090269579
|
|
NM_000548.5(TSC2):c.3883+7C>A
|
rs2151493855
|
|
NM_000548.5(TSC2):c.3883+8C>T
|
rs45517316
|
|
NM_000548.5(TSC2):c.3884-10G>A
|
|
|
NM_000548.5(TSC2):c.3884-12G>A
|
rs1282062597
|
|
NM_000548.5(TSC2):c.3884-13TG[4]
|
|
|
NM_000548.5(TSC2):c.3884-15T>A
|
rs2090412969
|
|
NM_000548.5(TSC2):c.3884-16G>C
|
|
|
NM_000548.5(TSC2):c.3884-17C>A
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-17C>T
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-17del
|
|
|
NM_000548.5(TSC2):c.3884-18C>T
|
|
|
NM_000548.5(TSC2):c.3884-19C>G
|
rs2151509370
|
|
NM_000548.5(TSC2):c.3884-19C>T
|
|
|
NM_000548.5(TSC2):c.3884-1G>C
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-1G>T
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-2A>T
|
rs137854053
|
|
NM_000548.5(TSC2):c.3884-3C>T
|
rs2090415795
|
|
NM_000548.5(TSC2):c.3884-497_5045del
|
|
|
NM_000548.5(TSC2):c.3884-4C>G
|
rs2151509808
|
|
NM_000548.5(TSC2):c.3884-4C>T
|
|
|
NM_000548.5(TSC2):c.3884-5C>G
|
rs980261526
|
|
NM_000548.5(TSC2):c.3884-6_3884-5del
|
rs2090414957
|
|
NM_000548.5(TSC2):c.3884-7C>T
|
rs1277989059
|
|
NM_000548.5(TSC2):c.3884-8C>T
|
rs397515219
|
|
NM_000548.5(TSC2):c.3884A>G (p.Asp1295Gly)
|
rs2090416468
|
|
NM_000548.5(TSC2):c.3886T>G (p.Ser1296Ala)
|
|
|
NM_000548.5(TSC2):c.3886_3942dup (p.Pro1314_Pro1315insSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluPro)
|
|
|
NM_000548.5(TSC2):c.3887C>A (p.Ser1296Tyr)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3888C>G (p.Ser1296=)
|
rs141252704
|
|
NM_000548.5(TSC2):c.388T>C (p.Tyr130His)
|
|
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3897C>T (p.Val1299=)
|
|
|
NM_000548.5(TSC2):c.3898A>G (p.Met1300Val)
|
rs1596411880
|
|
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr)
|
rs1349341137
|
|
NM_000548.5(TSC2):c.3899T>G (p.Met1300Arg)
|
|
|
NM_000548.5(TSC2):c.3901G>A (p.Glu1301Lys)
|
rs2090419072
|
|
NM_000548.5(TSC2):c.3903G>A (p.Glu1301=)
|
rs1429956058
|
|
NM_000548.5(TSC2):c.3903G>T (p.Glu1301Asp)
|
rs1429956058
|
|
NM_000548.5(TSC2):c.3904G>A (p.Glu1302Lys)
|
|
|
NM_000548.5(TSC2):c.3906G>A (p.Glu1302=)
|
rs2151510679
|
|
NM_000548.5(TSC2):c.3907G>A (p.Gly1303Arg)
|
rs1422874936
|
|
NM_000548.5(TSC2):c.3908G>A (p.Gly1303Glu)
|
|
|
NM_000548.5(TSC2):c.390C>T (p.Tyr130=)
|
rs2151041690
|
|
NM_000548.5(TSC2):c.3910A>C (p.Ser1304Arg)
|
|
|
NM_000548.5(TSC2):c.3912T>G (p.Ser1304Arg)
|
|
|
NM_000548.5(TSC2):c.3914C>A (p.Pro1305Gln)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3914C>G (p.Pro1305Arg)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=)
|
rs11551373
|
|
NM_000548.5(TSC2):c.3917G>A (p.Gly1306Asp)
|
rs1567518028
|
|
NM_000548.5(TSC2):c.3917del (p.Gly1306fs)
|
|
|
NM_000548.5(TSC2):c.3918C>A (p.Gly1306=)
|
rs368712041
|
|
NM_000548.5(TSC2):c.391C>A (p.Pro131Thr)
|
rs777398393
|
|
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)
|
rs777398393
|
|
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)
|
rs777398393
|
|
NM_000548.5(TSC2):c.3924T>A (p.Val1308=)
|
|
|
NM_000548.5(TSC2):c.3924T>C (p.Val1308=)
|
rs878854097
|
|
NM_000548.5(TSC2):c.3924T>G (p.Val1308=)
|
rs878854097
|
|
NM_000548.5(TSC2):c.3925C>T (p.Pro1309Ser)
|
rs1049538280
|
|
NM_000548.5(TSC2):c.3926C>T (p.Pro1309Leu)
|
rs1356621621
|
|
NM_000548.5(TSC2):c.3927T>A (p.Pro1309=)
|
|
|
NM_000548.5(TSC2):c.3927T>C (p.Pro1309=)
|
rs1488161104
|
|
NM_000548.5(TSC2):c.392C>G (p.Pro131Arg)
|
rs1487984678
|
|
NM_000548.5(TSC2):c.392C>T (p.Pro131Leu)
|
rs1487984678
|
|
NM_000548.5(TSC2):c.3931C>G (p.Leu1311Val)
|
|
|
NM_000548.5(TSC2):c.3931C>T (p.Leu1311=)
|
|
|
NM_000548.5(TSC2):c.3932T>G (p.Leu1311Arg)
|
rs2090422516
|
|
NM_000548.5(TSC2):c.3933G>A (p.Leu1311=)
|
rs768160843
|
|
NM_000548.5(TSC2):c.3934G>A (p.Val1312Met)
|
rs201584397
|
|
NM_000548.5(TSC2):c.3934G>C (p.Val1312Leu)
|
rs201584397
|
|
NM_000548.5(TSC2):c.3934G>T (p.Val1312Leu)
|
rs201584397
|
|
NM_000548.5(TSC2):c.3936G>A (p.Val1312=)
|
rs876659932
|
|
NM_000548.5(TSC2):c.3937G>A (p.Glu1313Lys)
|
rs45517321
|
|
NM_000548.5(TSC2):c.3937G>C (p.Glu1313Gln)
|
rs45517321
|
|
NM_000548.5(TSC2):c.3939G>A (p.Glu1313=)
|
rs149340262
|
|
NM_000548.5(TSC2):c.3939del (p.Glu1313fs)
|
rs2090423688
|
|
NM_000548.5(TSC2):c.393T>C (p.Pro131=)
|
rs2151041812
|
|
NM_000548.5(TSC2):c.393T>G (p.Pro131=)
|
|
|
NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser)
|
rs771499212
|
|
NM_000548.5(TSC2):c.3942C>A (p.Pro1314=)
|
rs759988275
|
|
NM_000548.5(TSC2):c.3942C>G (p.Pro1314=)
|
rs759988275
|
|
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.3944C>T (p.Pro1315Leu)
|
rs775990159
|
|
NM_000548.5(TSC2):c.3944dup (p.Gly1316fs)
|
rs137854011
|
|
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)
|
rs1811018177
|
|
NM_000548.5(TSC2):c.3945A>T (p.Pro1315=)
|
|
|
NM_000548.5(TSC2):c.3946G>A (p.Gly1316Arg)
|
rs1555513510
|
|
NM_000548.5(TSC2):c.3947G>A (p.Gly1316Glu)
|
rs1555513513
|
|
NM_000548.5(TSC2):c.3947G>C (p.Gly1316Ala)
|
rs1555513513
|
|
NM_000548.5(TSC2):c.3948G>A (p.Gly1316=)
|
rs763278787
|
|
NM_000548.5(TSC2):c.3948G>T (p.Gly1316=)
|
|
|
NM_000548.5(TSC2):c.394T>C (p.Ser132Pro)
|
rs1191673224
|
|
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser)
|
rs2090425460
|
|
NM_000548.5(TSC2):c.3951G>C (p.Leu1317Phe)
|
rs2090425580
|
|
NM_000548.5(TSC2):c.3952G>A (p.Glu1318Lys)
|
rs1064793797
|
|
NM_000548.5(TSC2):c.3954G>A (p.Glu1318=)
|
rs1165479631
|
|
NM_000548.5(TSC2):c.3955G>C (p.Asp1319His)
|
|
|
NM_000548.5(TSC2):c.3955_3958dup (p.Val1320fs)
|
|
|
NM_000548.5(TSC2):c.3956A>G (p.Asp1319Gly)
|
rs45517322
|
|
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)
|
rs45517322
|
|
NM_000548.5(TSC2):c.3956_3962del (p.Asp1319fs)
|
rs2151512637
|
|
NM_000548.5(TSC2):c.3958G>T (p.Val1320Phe)
|
|
|
NM_000548.5(TSC2):c.3962A>G (p.Glu1321Gly)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3963G>A (p.Glu1321=)
|
rs587778737
|
|
NM_000548.5(TSC2):c.3963G>T (p.Glu1321Asp)
|
|
|
NM_000548.5(TSC2):c.3965C>T (p.Ala1322Val)
|
rs1380402492
|
|
NM_000548.5(TSC2):c.3966A>G (p.Ala1322=)
|
|
|
NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr)
|
rs1248093496
|
|
NM_000548.5(TSC2):c.3967G>C (p.Ala1323Pro)
|
|
|
NM_000548.5(TSC2):c.3967G>T (p.Ala1323Ser)
|
|
|
NM_000548.5(TSC2):c.3968C>A (p.Ala1323Glu)
|
rs397515062
|
|
NM_000548.5(TSC2):c.3969G>T (p.Ala1323=)
|
rs749057825
|
|
NM_000548.5(TSC2):c.396C>T (p.Ser132=)
|
rs1060504083
|
|
NM_000548.5(TSC2):c.3970C>G (p.Leu1324Val)
|
rs549060036
|
|
NM_000548.5(TSC2):c.3970C>T (p.Leu1324=)
|
rs549060036
|
|
NM_000548.5(TSC2):c.3971T>A (p.Leu1324Gln)
|
rs878854098
|
|
NM_000548.5(TSC2):c.3971T>C (p.Leu1324Pro)
|
rs878854098
|
|
NM_000548.5(TSC2):c.3972A>G (p.Leu1324=)
|
|
|
NM_000548.5(TSC2):c.3972A>T (p.Leu1324=)
|
|
|
NM_000548.5(TSC2):c.3973G>A (p.Gly1325Ser)
|
rs2151513235
|
|
NM_000548.5(TSC2):c.3974G>T (p.Gly1325Val)
|
rs754680848
|
|
NM_000548.5(TSC2):c.3975C>T (p.Gly1325=)
|
|
|
NM_000548.5(TSC2):c.3976A>G (p.Met1326Val)
|
|
|
NM_000548.5(TSC2):c.3976A>T (p.Met1326Leu)
|
|
|
NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr)
|
rs2090429801
|
|
NM_000548.5(TSC2):c.3979G>C (p.Asp1327His)
|
|
|
NM_000548.5(TSC2):c.3980A>G (p.Asp1327Gly)
|
rs1555513553
|
|
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu)
|
rs876659087
|
|
NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly)
|
|
|
NM_000548.5(TSC2):c.3983G>A (p.Arg1328Lys)
|
rs112885324
|
|
NM_000548.5(TSC2):c.3983G>T (p.Arg1328Met)
|
rs112885324
|
|
NM_000548.5(TSC2):c.3984G>A (p.Arg1328=)
|
rs2151513555
|
|
NM_000548.5(TSC2):c.3988A>G (p.Thr1330Ala)
|
rs1555513561
|
|
NM_000548.5(TSC2):c.3989C>A (p.Thr1330Lys)
|
|
|
NM_000548.5(TSC2):c.3989C>G (p.Thr1330Arg)
|
rs397515209
|
|
NM_000548.5(TSC2):c.398A>C (p.Asn133Thr)
|
rs1265446222
|
|
NM_000548.5(TSC2):c.3990G>T (p.Thr1330=)
|
rs369943684
|
|
NM_000548.5(TSC2):c.3991G>A (p.Asp1331Asn)
|
rs770396146
|
|
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)
|
rs770396146
|
|
NM_000548.5(TSC2):c.3992A>C (p.Asp1331Ala)
|
|
|
NM_000548.5(TSC2):c.3992A>G (p.Asp1331Gly)
|
rs2090433367
|
|
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro)
|
rs1555513574
|
|
NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
|
|
|
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys)
|
rs878854099
|
|
NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter)
|
rs775604492
|
|
NM_000548.5(TSC2):c.399C>A (p.Asn133Lys)
|
rs746704620
|
|
NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)
|
rs766814650
|
|
NM_000548.5(TSC2):c.3G>A (p.Met1Ile)
|
rs397515208
|
|
NM_000548.5(TSC2):c.4001G>C (p.Ser1334Thr)
|
|
|
NM_000548.5(TSC2):c.4001G>T (p.Ser1334Ile)
|
|
|
NM_000548.5(TSC2):c.4002C>T (p.Ser1334=)
|
rs1060500911
|
|
NM_000548.5(TSC2):c.4003A>G (p.Arg1335Gly)
|
|
|
NM_000548.5(TSC2):c.4003A>T (p.Arg1335Trp)
|
|
|
NM_000548.5(TSC2):c.4004G>A (p.Arg1335Lys)
|
rs1403658994
|
|
NM_000548.5(TSC2):c.4004G>C (p.Arg1335Thr)
|
rs1403658994
|
|
NM_000548.5(TSC2):c.4004G>T (p.Arg1335Met)
|
|
|
NM_000548.5(TSC2):c.4005+10G>T
|
rs2090437677
|
|
NM_000548.5(TSC2):c.4005+11C>G
|
|
|
NM_000548.5(TSC2):c.4005+12T>C
|
|
|
NM_000548.5(TSC2):c.4005+13C>T
|
|
|
NM_000548.5(TSC2):c.4005+16A>C
|
|
|
NM_000548.5(TSC2):c.4005+16A>G
|
rs998429192
|
|
NM_000548.5(TSC2):c.4005+19C>G
|
rs558058715
|
|
NM_000548.5(TSC2):c.4005+1G>A
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+2T>C
|
rs137854254
|
|
NM_000548.5(TSC2):c.4005+3G>C
|
|
|
NM_000548.5(TSC2):c.4005+4_4005+7dup
|
rs796053519
|
|
NM_000548.5(TSC2):c.4005+5G>A
|
|
|
NM_000548.5(TSC2):c.4005+6T>C
|
rs2151514450
|
|
NM_000548.5(TSC2):c.4005+7G>A
|
rs2151514474
|
|
NM_000548.5(TSC2):c.4005+8_4005+9del
|
rs758495749
|
|
NM_000548.5(TSC2):c.4005G>A (p.Arg1335=)
|
|
|
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser)
|
rs2090436302
|
|
NM_000548.5(TSC2):c.4006-10T>G
|
rs2090477960
|
|
NM_000548.5(TSC2):c.4006-11G>A
|
|
|
NM_000548.5(TSC2):c.4006-14A>C
|
rs1350511311
|
|
NM_000548.5(TSC2):c.4006-15G>C
|
rs2090477452
|
|
NM_000548.5(TSC2):c.4006-15_4048del
|
rs2090477253
|
|
NM_000548.5(TSC2):c.4006-15del
|
rs1049832329
|
|
NM_000548.5(TSC2):c.4006-17G>A
|
|
|
NM_000548.5(TSC2):c.4006-17G>C
|
|
|
NM_000548.5(TSC2):c.4006-1G>A
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4006-1G>C
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.4006-2A>T
|
rs397514941
|
|
NM_000548.5(TSC2):c.4006-4C>T
|
rs772258522
|
|
NM_000548.5(TSC2):c.4006-5T>C
|
rs1596415173
|
|
NM_000548.5(TSC2):c.4006-6T>C
|
rs1060500953
|
|
NM_000548.5(TSC2):c.4006-7T>C
|
rs2151520224
|
|
NM_000548.5(TSC2):c.4006-7T>G
|
rs2151520224
|
|
NM_000548.5(TSC2):c.4006-9C>T
|
rs1555513765
|
|
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp)
|
rs148527903
|
|
NM_000548.5(TSC2):c.4008G>T (p.Ser1336=)
|
rs760704956
|
|
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del)
|
rs1567520255
|
|
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4010C>A (p.Ser1337Tyr)
|
rs200411484
|
|
NM_000548.5(TSC2):c.4011C>T (p.Ser1337=)
|
|
|
NM_000548.5(TSC2):c.4011del (p.Ser1338fs)
|
|
|
NM_000548.5(TSC2):c.4013C>T (p.Ser1338Leu)
|
rs2151520475
|
|
NM_000548.5(TSC2):c.4013_4014del (p.Ser1338fs)
|
rs2151520497
|
|
NM_000548.5(TSC2):c.4014A>C (p.Ser1338=)
|
rs1481292684
|
|
NM_000548.5(TSC2):c.4014A>G (p.Ser1338=)
|
rs1481292684
|
|
NM_000548.5(TSC2):c.4014dup (p.Val1339fs)
|
rs2151520544
|
|
NM_000548.5(TSC2):c.4017C>G (p.Val1339=)
|
rs876658217
|
|
NM_000548.5(TSC2):c.4017C>T (p.Val1339=)
|
rs876658217
|
|
NM_000548.5(TSC2):c.4019C>G (p.Ser1340Cys)
|
rs753656246
|
|
NM_000548.5(TSC2):c.401A>G (p.Glu134Gly)
|
rs2151042080
|
|
NM_000548.5(TSC2):c.4020C>T (p.Ser1340=)
|
rs1596415292
|
|
NM_000548.5(TSC2):c.4021A>G (p.Ser1341Gly)
|
rs2090480803
|
|
NM_000548.5(TSC2):c.4022G>A (p.Ser1341Asn)
|
rs1451479803
|
|
NM_000548.5(TSC2):c.4022G>C (p.Ser1341Thr)
|
|
|
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.4025A>G (p.Gln1342Arg)
|
rs1060500951
|
|
NM_000548.5(TSC2):c.4026G>A (p.Gln1342=)
|
rs765005488
|
|
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del)
|
rs878854100
|
|
NM_000548.5(TSC2):c.4028A>G (p.Glu1343Gly)
|
rs2090481775
|
|
NM_000548.5(TSC2):c.4029G>A (p.Glu1343=)
|
rs752502287
|
|
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp)
|
rs752502287
|
|
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)
|
rs397515035
|
|
NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly)
|
rs2090482288
|
|
NM_000548.5(TSC2):c.4032G>A (p.Glu1344=)
|
|
|
NM_000548.5(TSC2):c.4033A>G (p.Lys1345Glu)
|
|
|
NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter)
|
rs2151521044
|
|
NM_000548.5(TSC2):c.4033_4053dup (p.Lys1345_Glu1351dup)
|
rs1596415359
|
|
NM_000548.5(TSC2):c.4034A>T (p.Lys1345Met)
|
rs1302353294
|
|
NM_000548.5(TSC2):c.4035G>A (p.Lys1345=)
|
rs1335576471
|
|
NM_000548.5(TSC2):c.4035G>C (p.Lys1345Asn)
|
rs1335576471
|
|
NM_000548.5(TSC2):c.4038G>T (p.Ser1346=)
|
rs756763596
|
|
NM_000548.5(TSC2):c.4039C>T (p.Leu1347Phe)
|
rs377050648
|
|
NM_000548.5(TSC2):c.403G>A (p.Asp135Asn)
|
rs770439945
|
|
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)
|
rs1060504109
|
|
NM_000548.5(TSC2):c.4042C>T (p.His1348Tyr)
|
rs2151521367
|
|
NM_000548.5(TSC2):c.4046C>A (p.Ala1349Glu)
|
rs201979616
|
|
NM_000548.5(TSC2):c.4048G>A (p.Glu1350Lys)
|
|
|
NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val)
|
rs1378842608
|
|
NM_000548.5(TSC2):c.404A>G (p.Asp135Gly)
|
rs2085506301
|
|
NM_000548.5(TSC2):c.4050G>A (p.Glu1350=)
|
rs2090485089
|
|
NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys)
|
rs878854101
|
|
NM_000548.5(TSC2):c.4051G>T (p.Glu1351Ter)
|
rs878854101
|
|
NM_000548.5(TSC2):c.4051_4052delinsTT (p.Glu1351Leu)
|
rs2151521631
|
|
NM_000548.5(TSC2):c.4053G>A (p.Glu1351=)
|
|
|
NM_000548.5(TSC2):c.4054C>G (p.Leu1352Val)
|
rs2090485397
|
|
NM_000548.5(TSC2):c.4056G>A (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.4056G>T (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.4057G>T (p.Val1353Phe)
|
rs373982157
|
|
NM_000548.5(TSC2):c.4057del (p.Val1353fs)
|
|
|
NM_000548.5(TSC2):c.4058T>C (p.Val1353Ala)
|
rs2151521778
|
|
NM_000548.5(TSC2):c.405C>T (p.Asp135=)
|
rs1005115266
|
|
NM_000548.5(TSC2):c.4060G>A (p.Gly1354Ser)
|
|
|
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp)
|
rs878854102
|
|
NM_000548.5(TSC2):c.4063A>C (p.Arg1355=)
|
|
|
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)
|
rs1555513911
|
|
NM_000548.5(TSC2):c.4065G>A (p.Arg1355=)
|
rs2151521953
|
|
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)
|
rs747104864
|
|
NM_000548.5(TSC2):c.4068C>T (p.Gly1356=)
|
rs2090486866
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
|
NM_000548.5(TSC2):c.4070T>A (p.Ile1357Asn)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4070del (p.Ile1357fs)
|
|
|
NM_000548.5(TSC2):c.4071C>T (p.Ile1357=)
|
|
|
NM_000548.5(TSC2):c.4075A>T (p.Ile1359Phe)
|
rs2151522243
|
|
NM_000548.5(TSC2):c.4077C>G (p.Ile1359Met)
|
rs150999168
|
|
NM_000548.5(TSC2):c.4078G>C (p.Glu1360Gln)
|
rs397514997
|
|
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter)
|
rs397514997
|
|
NM_000548.5(TSC2):c.4081C>T (p.Arg1361Ter)
|
rs560831385
|
|
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro)
|
rs762798984
|
|
NM_000548.5(TSC2):c.4084G>T (p.Val1362Phe)
|
rs2090489392
|
|
NM_000548.5(TSC2):c.4085_4086inv (p.Val1362Gly)
|
|
|
NM_000548.5(TSC2):c.4085_4098del (p.Val1362fs)
|
rs2151522509
|
|
NM_000548.5(TSC2):c.4086C>G (p.Val1362=)
|
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4087G>T (p.Val1363Phe)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4089C>T (p.Val1363=)
|
rs1036544111
|
|
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del)
|
rs755101865
|
|
NM_000548.5(TSC2):c.4090_4091delinsGT (p.Ser1364Val)
|
rs1060500956
|
|
NM_000548.5(TSC2):c.4091C>A (p.Ser1364Tyr)
|
|
|
NM_000548.5(TSC2):c.4091C>G (p.Ser1364Cys)
|
|
|
NM_000548.5(TSC2):c.4092C>A (p.Ser1364=)
|
|
|
NM_000548.5(TSC2):c.4092C>T (p.Ser1364=)
|
rs1251019267
|
|
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)
|
rs45517327
|
|
NM_000548.5(TSC2):c.409C>T (p.His137Tyr)
|
rs1596265133
|
|
NM_000548.5(TSC2):c.4100G>A (p.Gly1367Asp)
|
rs1460776110
|
|
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser)
|
rs1596415966
|
|
NM_000548.5(TSC2):c.4102G>C (p.Gly1368Arg)
|
rs1596415966
|
|
NM_000548.5(TSC2):c.4103G>A (p.Gly1368Asp)
|
rs1596415974
|
|
NM_000548.5(TSC2):c.4103G>T (p.Gly1368Val)
|
rs1596415974
|
|
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=)
|
rs45517328
|
|
NM_000548.5(TSC2):c.4106_4109dup (p.Ser1371fs)
|
rs2090492186
|
|
NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs)
|
rs1567521369
|
|
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.410A>G (p.His137Arg)
|
rs45517107
|
|
NM_000548.5(TSC2):c.4110C>A (p.Pro1370=)
|
|
|
NM_000548.5(TSC2):c.4110C>G (p.Pro1370=)
|
rs771107874
|
|
NM_000548.5(TSC2):c.4110C>T (p.Pro1370=)
|
rs771107874
|
|
NM_000548.5(TSC2):c.4112C>G (p.Ser1371Cys)
|
rs1060500929
|
|
NM_000548.5(TSC2):c.4114G>A (p.Val1372Met)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.4114G>C (p.Val1372Leu)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.4114G>T (p.Val1372Leu)
|
|
|
NM_000548.5(TSC2):c.4114_4123dup (p.Ser1375fs)
|
rs2151523516
|
|
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)
|
rs137854368
|
|
NM_000548.5(TSC2):c.4118A>G (p.Asp1373Gly)
|
rs1596416094
|
|
NM_000548.5(TSC2):c.4119C>G (p.Asp1373Glu)
|
rs2090494735
|
|
NM_000548.5(TSC2):c.4119C>T (p.Asp1373=)
|
rs2090494735
|
|
NM_000548.5(TSC2):c.411C>G (p.His137Gln)
|
rs776129896
|
|
NM_000548.5(TSC2):c.4120C>T (p.Leu1374Phe)
|
|
|
NM_000548.5(TSC2):c.4121T>G (p.Leu1374Arg)
|
rs2151523920
|
|
NM_000548.5(TSC2):c.4122C>G (p.Leu1374=)
|
|
|
NM_000548.5(TSC2):c.4123_4124del (p.Ser1375fs)
|
rs137854289
|
|
NM_000548.5(TSC2):c.4124C>G (p.Ser1375Cys)
|
rs145476528
|
|
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe)
|
rs145476528
|
|
NM_000548.5(TSC2):c.4125C>G (p.Ser1375=)
|
rs1050512482
|
|
NM_000548.5(TSC2):c.4127dup (p.Gln1377fs)
|
rs2151524044
|
|
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=)
|
rs1060504086
|
|
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)
|
rs45517329
|
|
NM_000548.5(TSC2):c.4129del (p.Gln1377fs)
|
rs2151524091
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.412G>C (p.Glu138Gln)
|
|
|
NM_000548.5(TSC2):c.4132C>A (p.Pro1378Thr)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4132C>G (p.Pro1378Ala)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4132C>T (p.Pro1378Ser)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4133C>G (p.Pro1378Arg)
|
rs1596416159
|
|
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=)
|
rs1060504081
|
|
NM_000548.5(TSC2):c.4134C>T (p.Pro1378=)
|
rs1060504081
|
|
NM_000548.5(TSC2):c.4135_4136del (p.Ser1379fs)
|
rs2090496214
|
|
NM_000548.5(TSC2):c.4135_4160dup (p.Ser1387_Ser1388insArgSerProTer)
|
rs1555514034
|
|
NM_000548.5(TSC2):c.4137G>T (p.Ser1379=)
|
rs769653533
|
|
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys)
|
rs137854045
|
|
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)
|
rs137854045
|
|
NM_000548.5(TSC2):c.4139_4165dup (p.Gln1380_Ser1388dup)
|
rs2151524475
|
|
NM_000548.5(TSC2):c.413A>G (p.Glu138Gly)
|
rs2151042580
|
|
NM_000548.5(TSC2):c.413A>T (p.Glu138Val)
|
|
|
NM_000548.5(TSC2):c.4140G>A (p.Gln1380=)
|
rs1596416227
|
|
NM_000548.5(TSC2):c.4140_4166dup (p.Pro1381_Pro1389dup)
|
rs1555514052
|
|
NM_000548.5(TSC2):c.4141C>A (p.Pro1381Thr)
|
|
|
NM_000548.5(TSC2):c.4141C>T (p.Pro1381Ser)
|
rs2090497403
|
|
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu)
|
rs397515264
|
|
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=)
|
rs1555514056
|
|
NM_000548.5(TSC2):c.4146G>C (p.Leu1382=)
|
|
|
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.4148G>C (p.Ser1383Thr)
|
rs1596416285
|
|
NM_000548.5(TSC2):c.4149C>T (p.Ser1383=)
|
|
|
NM_000548.5(TSC2):c.4152G>A (p.Lys1384=)
|
rs2151525029
|
|
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=)
|
rs1057521540
|
|
NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn)
|
rs1555514071
|
|
NM_000548.5(TSC2):c.4157G>C (p.Ser1386Thr)
|
rs1555514071
|
|
NM_000548.5(TSC2):c.4157G>T (p.Ser1386Ile)
|
|
|
NM_000548.5(TSC2):c.4161C>A (p.Ser1387=)
|
|
|
NM_000548.5(TSC2):c.4163C>T (p.Ser1388Phe)
|
rs764039393
|
|
NM_000548.5(TSC2):c.4164T>A (p.Ser1388=)
|
rs2151525515
|
|
NM_000548.5(TSC2):c.4164T>C (p.Ser1388=)
|
rs2151525515
|
|
NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser)
|
rs1057520843
|
|
NM_000548.5(TSC2):c.4166C>T (p.Pro1389Leu)
|
rs1596416369
|
|
NM_000548.5(TSC2):c.4167C>A (p.Pro1389=)
|
rs45508504
|
|
NM_000548.5(TSC2):c.4167C>G (p.Pro1389=)
|
rs45508504
|
|
NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys)
|
rs397515033
|
|
NM_000548.5(TSC2):c.4168G>C (p.Glu1390Gln)
|
|
|
NM_000548.5(TSC2):c.416G>A (p.Arg139Lys)
|
rs2085508015
|
|
NM_000548.5(TSC2):c.416G>T (p.Arg139Met)
|
|
|
NM_000548.5(TSC2):c.4171C>T (p.Leu1391=)
|
rs1483287924
|
|
NM_000548.5(TSC2):c.4173G>A (p.Leu1391=)
|
|
|
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)
|
rs45517330
|
|
NM_000548.5(TSC2):c.4176G>C (p.Gln1392His)
|
rs749930791
|
|
NM_000548.5(TSC2):c.4176G>T (p.Gln1392His)
|
rs749930791
|
|
NM_000548.5(TSC2):c.4177A>G (p.Thr1393Ala)
|
|
|
NM_000548.5(TSC2):c.4178C>G (p.Thr1393Ser)
|
rs755583869
|
|
NM_000548.5(TSC2):c.4178C>T (p.Thr1393Ile)
|
|
|
NM_000548.5(TSC2):c.4179T>G (p.Thr1393=)
|
rs1555514101
|
|
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)
|
rs137854363
|
|
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)
|
rs886041772
|
|
NM_000548.5(TSC2):c.4184A>G (p.Gln1395Arg)
|
|
|
NM_000548.5(TSC2):c.4185G>C (p.Gln1395His)
|
rs2151526541
|
|
NM_000548.5(TSC2):c.4185G>T (p.Gln1395His)
|
rs2151526541
|
|
NM_000548.5(TSC2):c.4188C>T (p.Asp1396=)
|
|
|
NM_000548.5(TSC2):c.4189A>G (p.Ile1397Val)
|
rs1596416534
|
|
NM_000548.5(TSC2):c.418C>T (p.Leu140=)
|
rs1555497657
|
|
NM_000548.5(TSC2):c.4190T>A (p.Ile1397Asn)
|
rs2090503435
|
|
NM_000548.5(TSC2):c.4190T>C (p.Ile1397Thr)
|
rs2090503435
|
|
NM_000548.5(TSC2):c.4192C>T (p.Leu1398Phe)
|
rs1060500928
|
|
NM_000548.5(TSC2):c.4194C>G (p.Leu1398=)
|
|
|
NM_000548.5(TSC2):c.4197G>A (p.Gly1399=)
|
rs2151527039
|
|
NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn)
|
rs762368225
|
|
NM_000548.5(TSC2):c.4198_4207del (p.Asp1400fs)
|
|
|
NM_000548.5(TSC2):c.419T>C (p.Leu140Pro)
|
rs2151042793
|
|
NM_000548.5(TSC2):c.41A>G (p.Lys14Arg)
|
rs1263108967
|
|
NM_000548.5(TSC2):c.41del (p.Lys14fs)
|
rs2084674122
|
|
NM_000548.5(TSC2):c.4200C>T (p.Asp1400=)
|
rs758897944
|
|
NM_000548.5(TSC2):c.4201C>A (p.Pro1401Thr)
|
rs778147657
|
|
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala)
|
rs778147657
|
|
NM_000548.5(TSC2):c.4202C>G (p.Pro1401Arg)
|
rs1596416623
|
|
NM_000548.5(TSC2):c.4202C>T (p.Pro1401Leu)
|
rs1596416623
|
|
NM_000548.5(TSC2):c.4203T>C (p.Pro1401=)
|
rs893072428
|
|
NM_000548.5(TSC2):c.4204G>A (p.Gly1402Arg)
|
rs2151527362
|
|
NM_000548.5(TSC2):c.4205_4237del (p.Gly1402_Pro1412del)
|
rs2151527185
|
|
NM_000548.5(TSC2):c.4206G>A (p.Gly1402=)
|
|
|
NM_000548.5(TSC2):c.4206G>T (p.Gly1402=)
|
rs2090505727
|
|
NM_000548.5(TSC2):c.4207G>A (p.Asp1403Asn)
|
|
|
NM_000548.5(TSC2):c.4207G>T (p.Asp1403Tyr)
|
rs1288307487
|
|
NM_000548.5(TSC2):c.4209C>G (p.Asp1403Glu)
|
rs1257841799
|
|
NM_000548.5(TSC2):c.4209C>T (p.Asp1403=)
|
rs1257841799
|
|
NM_000548.5(TSC2):c.420G>A (p.Leu140=)
|
rs876660078
|
|
NM_000548.5(TSC2):c.4210A>C (p.Lys1404Gln)
|
|
|
NM_000548.5(TSC2):c.4212G>A (p.Lys1404=)
|
rs2090506660
|
|
NM_000548.5(TSC2):c.4212G>C (p.Lys1404Asn)
|
rs2090506660
|
|
NM_000548.5(TSC2):c.4214C>A (p.Ala1405Asp)
|
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4217_4219del (p.Asp1406del)
|
rs2090507183
|
|
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)
|
rs45517332
|
|
NM_000548.5(TSC2):c.421G>C (p.Glu141Gln)
|
|
|
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)
|
rs1060500924
|
|
NM_000548.5(TSC2):c.4220T>G (p.Val1407Gly)
|
rs1555514182
|
|
NM_000548.5(TSC2):c.4220_4222del (p.Val1407del)
|
rs1264774699
|
|
NM_000548.5(TSC2):c.4223G>A (p.Gly1408Asp)
|
|
|
NM_000548.5(TSC2):c.4223G>C (p.Gly1408Ala)
|
rs202068995
|
|
NM_000548.5(TSC2):c.4224C>A (p.Gly1408=)
|
|
|
NM_000548.5(TSC2):c.4224C>T (p.Gly1408=)
|
rs1596416816
|
|
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)
|
rs45517333
|
|
NM_000548.5(TSC2):c.4227G>T (p.Arg1409=)
|
rs1555514188
|
|
NM_000548.5(TSC2):c.4228C>T (p.Leu1410=)
|
rs2151528481
|
|
NM_000548.5(TSC2):c.422A>G (p.Glu141Gly)
|
rs1446616583
|
|
NM_000548.5(TSC2):c.4233C>A (p.Ser1411Arg)
|
|
|
NM_000548.5(TSC2):c.4233C>T (p.Ser1411=)
|
rs1060504090
|
|
NM_000548.5(TSC2):c.4234C>T (p.Pro1412Ser)
|
rs1480313663
|
|
NM_000548.5(TSC2):c.4235C>G (p.Pro1412Arg)
|
rs1197792694
|
|
NM_000548.5(TSC2):c.4237G>A (p.Glu1413Lys)
|
|
|
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=)
|
rs907082165
|
|
NM_000548.5(TSC2):c.423G>A (p.Glu141=)
|
|
|
NM_000548.5(TSC2):c.423_424delinsAA (p.Val142Ile)
|
rs2085508858
|
|
NM_000548.5(TSC2):c.4241T>C (p.Val1414Ala)
|
|
|
NM_000548.5(TSC2):c.4242dup (p.Lys1415Ter)
|
|
|
NM_000548.5(TSC2):c.4245G>T (p.Lys1415Asn)
|
rs1431882138
|
|
NM_000548.5(TSC2):c.4246dup (p.Ala1416fs)
|
|
|
NM_000548.5(TSC2):c.4247C>G (p.Ala1416Gly)
|
|
|
NM_000548.5(TSC2):c.4247C>T (p.Ala1416Val)
|
rs2090510754
|
|
NM_000548.5(TSC2):c.4248C>A (p.Ala1416=)
|
rs1393358018
|
|
NM_000548.5(TSC2):c.4248C>G (p.Ala1416=)
|
rs1393358018
|
|
NM_000548.5(TSC2):c.4249C>A (p.Arg1417=)
|
rs774338461
|
|
NM_000548.5(TSC2):c.4249C>G (p.Arg1417Gly)
|
rs774338461
|
|
NM_000548.5(TSC2):c.4249C>T (p.Arg1417Trp)
|
rs774338461
|
|
NM_000548.5(TSC2):c.424G>A (p.Val142Ile)
|
|
|
NM_000548.5(TSC2):c.424G>C (p.Val142Leu)
|
rs2151043003
|
|
NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln)
|
rs1343536158
|
|
NM_000548.5(TSC2):c.4251G>A (p.Arg1417=)
|
rs1455362130
|
|
NM_000548.5(TSC2):c.4255C>G (p.Gln1419Glu)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs)
|
rs2151529577
|
|
NM_000548.5(TSC2):c.4257G>A (p.Gln1419=)
|
rs1403321543
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.425T>A (p.Val142Asp)
|
|
|
NM_000548.5(TSC2):c.4260A>C (p.Ser1420=)
|
|
|
NM_000548.5(TSC2):c.4263G>T (p.Gly1421=)
|
rs772862165
|
|
NM_000548.5(TSC2):c.4265C>A (p.Thr1422Asn)
|
rs760230300
|
|
NM_000548.5(TSC2):c.4266C>T (p.Thr1422=)
|
|
|
NM_000548.5(TSC2):c.4267C>G (p.Leu1423Val)
|
|
|
NM_000548.5(TSC2):c.4267C>T (p.Leu1423=)
|
rs1484475537
|
|
NM_000548.5(TSC2):c.4268T>C (p.Leu1423Pro)
|
rs1567523138
|
|
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His)
|
rs1216613310
|
|
NM_000548.5(TSC2):c.4270dup (p.Asp1424fs)
|
|
|
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly)
|
rs876659933
|
|
NM_000548.5(TSC2):c.4272C>A (p.Asp1424Glu)
|
|
|
NM_000548.5(TSC2):c.4272C>G (p.Asp1424Glu)
|
rs371541319
|
|
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg)
|
rs763497329
|
|
NM_000548.5(TSC2):c.4276G>A (p.Glu1426Lys)
|
|
|
NM_000548.5(TSC2):c.4277A>C (p.Glu1426Ala)
|
|
|
NM_000548.5(TSC2):c.4277A>G (p.Glu1426Gly)
|
rs2090515740
|
|
NM_000548.5(TSC2):c.4279del (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr)
|
rs397515250
|
|
NM_000548.5(TSC2):c.4280G>T (p.Ser1427Ile)
|
rs397515250
|
|
NM_000548.5(TSC2):c.4283C>T (p.Ala1428Val)
|
rs2151530908
|
|
NM_000548.5(TSC2):c.4284T>C (p.Ala1428=)
|
rs2151530962
|
|
NM_000548.5(TSC2):c.4285G>A (p.Ala1429Thr)
|
|
|
NM_000548.5(TSC2):c.4286C>G (p.Ala1429Gly)
|
rs757579310
|
|
NM_000548.5(TSC2):c.4287C>T (p.Ala1429=)
|
rs2151531120
|
|
NM_000548.5(TSC2):c.4287dup (p.Trp1430fs)
|
rs2090516898
|
|
NM_000548.5(TSC2):c.4288T>C (p.Trp1430Arg)
|
rs1596417336
|
|
NM_000548.5(TSC2):c.4289G>C (p.Trp1430Ser)
|
|
|
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter)
|
rs45517334
|
|
NM_000548.5(TSC2):c.4290G>T (p.Trp1430Cys)
|
rs45517334
|
|
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp)
|
rs375785710
|
|
NM_000548.5(TSC2):c.4294G>A (p.Ala1432Thr)
|
|
|
NM_000548.5(TSC2):c.4295C>T (p.Ala1432Val)
|
rs2151531391
|
|
NM_000548.5(TSC2):c.4296C>G (p.Ala1432=)
|
rs1555514284
|
|
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp)
|
rs45517335
|
|
NM_000548.5(TSC2):c.42G>A (p.Lys14=)
|
|
|
NM_000548.5(TSC2):c.4300G>T (p.Gly1434Cys)
|
rs1555514295
|
|
NM_000548.5(TSC2):c.4302C>G (p.Gly1434=)
|
|
|
NM_000548.5(TSC2):c.4303G>T (p.Glu1435Ter)
|
rs1441136255
|
|
NM_000548.5(TSC2):c.4304A>T (p.Glu1435Val)
|
|
|
NM_000548.5(TSC2):c.4306G>A (p.Asp1436Asn)
|
|
|
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.4310G>T (p.Ser1437Ile)
|
|
|
NM_000548.5(TSC2):c.4311T>C (p.Ser1437=)
|
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
NM_000548.5(TSC2):c.4314G>A (p.Arg1438=)
|
|
|
NM_000548.5(TSC2):c.4315G>A (p.Gly1439Ser)
|
rs1313797378
|
|
NM_000548.5(TSC2):c.4316del (p.Gly1439fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)
|
rs45517337
|
|
NM_000548.5(TSC2):c.431A>C (p.Lys144Thr)
|
|
|
NM_000548.5(TSC2):c.431A>T (p.Lys144Met)
|
|
|
NM_000548.5(TSC2):c.4320G>A (p.Gln1440=)
|
rs2151532377
|
|
NM_000548.5(TSC2):c.4320G>T (p.Gln1440His)
|
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
NM_000548.5(TSC2):c.4322C>T (p.Pro1441Leu)
|
rs2090520912
|
|
NM_000548.5(TSC2):c.4323C>G (p.Pro1441=)
|
rs536527623
|
|
NM_000548.5(TSC2):c.4323del (p.Glu1442fs)
|
rs137854327
|
|
NM_000548.5(TSC2):c.4324G>C (p.Glu1442Gln)
|
|
|
NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter)
|
rs45469392
|
|
NM_000548.5(TSC2):c.4325A>C (p.Glu1442Ala)
|
|
|
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val)
|
rs1204349917
|
|
NM_000548.5(TSC2):c.4327G>A (p.Gly1443Ser)
|
rs1231519628
|
|
NM_000548.5(TSC2):c.4328G>T (p.Gly1443Val)
|
rs2090521873
|
|
NM_000548.5(TSC2):c.432G>A (p.Lys144=)
|
rs2085509615
|
|
NM_000548.5(TSC2):c.432G>C (p.Lys144Asn)
|
rs2085509615
|
|
NM_000548.5(TSC2):c.4330C>T (p.Pro1444Ser)
|
rs1459518095
|
|
NM_000548.5(TSC2):c.4334T>C (p.Leu1445Ser)
|
|
|
NM_000548.5(TSC2):c.4335G>A (p.Leu1445=)
|
|
|
NM_000548.5(TSC2):c.4335G>C (p.Leu1445Phe)
|
|
|
NM_000548.5(TSC2):c.4335G>T (p.Leu1445Phe)
|
rs587778739
|
|
NM_000548.5(TSC2):c.4337C>T (p.Pro1446Leu)
|
rs2090523005
|
|
NM_000548.5(TSC2):c.4338T>C (p.Pro1446=)
|
|
|
NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs)
|
rs1596417662
|
|
NM_000548.5(TSC2):c.433G>T (p.Ala145Ser)
|
|
|
NM_000548.5(TSC2):c.4340C>T (p.Ser1447Phe)
|
rs1218154295
|
|
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=)
|
rs1060504117
|
|
NM_000548.5(TSC2):c.4342A>G (p.Ser1448Gly)
|
rs2090523420
|
|
NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs)
|
rs1555514354
|
|
NM_000548.5(TSC2):c.4345del (p.Ser1449fs)
|
rs2090524176
|
|
NM_000548.5(TSC2):c.4346C>A (p.Ser1449Tyr)
|
|
|
NM_000548.5(TSC2):c.4347C>T (p.Ser1449=)
|
rs2151533587
|
|
NM_000548.5(TSC2):c.4347_4355del (p.Arg1451_Pro1453del)
|
rs781641545
|
|
NM_000548.5(TSC2):c.4348C>T (p.Pro1450Ser)
|
|
|
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His)
|
rs45517338
|
|
NM_000548.5(TSC2):c.434C>G (p.Ala145Gly)
|
rs1596265255
|
|
NM_000548.5(TSC2):c.4350C>A (p.Pro1450=)
|
rs767996683
|
|
NM_000548.5(TSC2):c.4350C>T (p.Pro1450=)
|
rs767996683
|
|
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4351del (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4352G>C (p.Arg1451Pro)
|
rs142848358
|
|
NM_000548.5(TSC2):c.4356G>T (p.Ser1452=)
|
rs779122170
|
|
NM_000548.5(TSC2):c.4357C>T (p.Pro1453Ser)
|
|
|
NM_000548.5(TSC2):c.4358C>G (p.Pro1453Arg)
|
|
|
NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu)
|
|
|
NM_000548.5(TSC2):c.4359del (p.Ser1454fs)
|
rs397515237
|
|
NM_000548.5(TSC2):c.435C>T (p.Ala145=)
|
rs762200040
|
|
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)
|
rs137854366
|
|
NM_000548.5(TSC2):c.4361G>A (p.Ser1454Asn)
|
rs758233186
|
|
NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile)
|
rs758233186
|
|
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala)
|
rs1567524174
|
|
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)
|
rs2090527409
|
|
NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
|
|
|
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe)
|
rs1199848222
|
|
NM_000548.5(TSC2):c.4368C>G (p.Leu1456=)
|
|
|
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)
|
rs1555514397
|
|
NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp)
|
rs746729857
|
|
NM_000548.5(TSC2):c.436C>G (p.Leu146Val)
|
rs997604465
|
|
NM_000548.5(TSC2):c.436C>T (p.Leu146Phe)
|
rs997604465
|
|
NM_000548.5(TSC2):c.4370G>A (p.Arg1457Gln)
|
rs1060500952
|
|
NM_000548.5(TSC2):c.4371G>A (p.Arg1457=)
|
rs1596417989
|
|
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs)
|
rs137854046
|
|
NM_000548.5(TSC2):c.4375C>A (p.Arg1459=)
|
rs45517340
|
|
NM_000548.5(TSC2):c.4375del (p.Arg1459fs)
|
rs397514959
|
|
NM_000548.5(TSC2):c.4376G>A (p.Arg1459Gln)
|
rs1555514409
|
|
NM_000548.5(TSC2):c.4376G>C (p.Arg1459Pro)
|
rs1555514409
|
|
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser)
|
|
|
NM_000548.5(TSC2):c.4379G>T (p.Gly1460Val)
|
|
|
NM_000548.5(TSC2):c.4379_4395dup (p.Ser1466fs)
|
rs2151534791
|
|
NM_000548.5(TSC2):c.437T>C (p.Leu146Pro)
|
|
|
NM_000548.5(TSC2):c.4380T>G (p.Gly1460=)
|
rs2151534821
|
|
NM_000548.5(TSC2):c.4383del (p.Gly1460_Tyr1461insTer)
|
|
|
NM_000548.5(TSC2):c.4384A>C (p.Thr1462Pro)
|
|
|
NM_000548.5(TSC2):c.4386C>A (p.Thr1462=)
|
rs2151534904
|
|
NM_000548.5(TSC2):c.4386C>T (p.Thr1462=)
|
|
|
NM_000548.5(TSC2):c.4387A>G (p.Ile1463Val)
|
|
|
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=)
|
rs1555514425
|
|
NM_000548.5(TSC2):c.438C>T (p.Leu146=)
|
rs2151043440
|
|
NM_000548.5(TSC2):c.4390T>A (p.Ser1464Thr)
|
|
|
NM_000548.5(TSC2):c.4390T>G (p.Ser1464Ala)
|
|
|
NM_000548.5(TSC2):c.4391C>G (p.Ser1464Cys)
|
rs1596418078
|
|
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.4393G>C (p.Asp1465His)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.4393G>T (p.Asp1465Tyr)
|
|
|
NM_000548.5(TSC2):c.4394A>G (p.Asp1465Gly)
|
rs2151535102
|
|
NM_000548.5(TSC2):c.4395C>G (p.Asp1465Glu)
|
|
|
NM_000548.5(TSC2):c.4395C>T (p.Asp1465=)
|
rs2151535121
|
|
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)
|
rs45517341
|
|
NM_000548.5(TSC2):c.4397C>G (p.Ser1466Trp)
|
|
|
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=)
|
rs376086638
|
|
NM_000548.5(TSC2):c.4398_4401del (p.Ala1467fs)
|
rs2090530802
|
|
NM_000548.5(TSC2):c.4399G>A (p.Ala1467Thr)
|
rs774980656
|
|
NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser)
|
rs774980656
|
|
NM_000548.5(TSC2):c.439A>C (p.Thr147Pro)
|
|
|
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala)
|
rs1596265301
|
|
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val)
|
rs2090531407
|
|
NM_000548.5(TSC2):c.4401C>A (p.Ala1467=)
|
rs370735624
|
|
NM_000548.5(TSC2):c.4401C>G (p.Ala1467=)
|
rs370735624
|
|
NM_000548.5(TSC2):c.4402C>G (p.Pro1468Ala)
|
rs1217359412
|
|
NM_000548.5(TSC2):c.4404A>G (p.Pro1468=)
|
|
|
NM_000548.5(TSC2):c.4404_4407dup (p.Arg1470fs)
|
|
|
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala)
|
rs907136617
|
|
NM_000548.5(TSC2):c.4407A>G (p.Ser1469=)
|
rs1596418218
|
|
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)
|
rs1060500969
|
|
NM_000548.5(TSC2):c.4409G>T (p.Arg1470Leu)
|
|
|
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)
|
rs1555497690
|
|
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile)
|
rs1555497690
|
|
NM_000548.5(TSC2):c.440_441del (p.Thr147fs)
|
rs137854292
|
|
NM_000548.5(TSC2):c.4410dup (p.Arg1471fs)
|
|
|
NM_000548.5(TSC2):c.4411A>C (p.Arg1471=)
|
|
|
NM_000548.5(TSC2):c.4413G>A (p.Arg1471=)
|
rs1596418285
|
|
NM_000548.5(TSC2):c.4415G>T (p.Gly1472Val)
|
rs2090534118
|
|
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)
|
rs2090534289
|
|
NM_000548.5(TSC2):c.4416del (p.Lys1473fs)
|
|
|
NM_000548.5(TSC2):c.4417A>G (p.Lys1473Glu)
|
|
|
NM_000548.5(TSC2):c.441A>G (p.Thr147=)
|
|
|
NM_000548.5(TSC2):c.4420A>C (p.Arg1474=)
|
rs766719443
|
|
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys)
|
rs2090535225
|
|
NM_000548.5(TSC2):c.4422A>T (p.Arg1474Ser)
|
rs754169255
|
|
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs)
|
rs137854307
|
|
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)
|
rs1202676769
|
|
NM_000548.5(TSC2):c.4424_4426del (p.Val1475del)
|
|
|
NM_000548.5(TSC2):c.4424del (p.Val1475fs)
|
rs2151536071
|
|
NM_000548.5(TSC2):c.4425A>G (p.Val1475=)
|
rs878854106
|
|
NM_000548.5(TSC2):c.4426G>C (p.Glu1476Gln)
|
rs376946970
|
|
NM_000548.5(TSC2):c.4428G>C (p.Glu1476Asp)
|
rs765447466
|
|
NM_000548.5(TSC2):c.4429A>G (p.Arg1477Gly)
|
rs2090536576
|
|
NM_000548.5(TSC2):c.4429_4430del (p.Arg1477fs)
|
rs1567524949
|
|
NM_000548.5(TSC2):c.442G>C (p.Asp148His)
|
rs2151043628
|
|
NM_000548.5(TSC2):c.4430G>C (p.Arg1477Thr)
|
rs752693719
|
|
NM_000548.5(TSC2):c.4431G>A (p.Arg1477=)
|
rs76934857
|
|
NM_000548.5(TSC2):c.4431G>C (p.Arg1477Ser)
|
rs76934857
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4433A>C (p.Asp1478Ala)
|
rs1596418447
|
|
NM_000548.5(TSC2):c.4433A>T (p.Asp1478Val)
|
rs1596418447
|
|
NM_000548.5(TSC2):c.4434C>A (p.Asp1478Glu)
|
|
|
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
|
rs777529733
|
|
NM_000548.5(TSC2):c.4436C>A (p.Ala1479Asp)
|
|
|
NM_000548.5(TSC2):c.4437C>T (p.Ala1479=)
|
rs2151536553
|
|
NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs)
|
rs1555514548
|
|
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)
|
rs45446594
|
|
NM_000548.5(TSC2):c.4439dup (p.Leu1480fs)
|
|
|
NM_000548.5(TSC2):c.4440_4441insT (p.Lys1481Ter)
|
rs2151536718
|
|
NM_000548.5(TSC2):c.4441A>G (p.Lys1481Glu)
|
rs1596418520
|
|
NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter)
|
|
|
NM_000548.5(TSC2):c.4441_4442del (p.Lys1481fs)
|
rs137854312
|
|
NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg)
|
rs2090538754
|
|
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)
|
rs137854312
|
|
NM_000548.5(TSC2):c.4443G>C (p.Lys1481Asn)
|
rs2090538903
|
|
NM_000548.5(TSC2):c.4444A>T (p.Ser1482Cys)
|
|
|
NM_000548.5(TSC2):c.4446C>G (p.Ser1482Arg)
|
|
|
NM_000548.5(TSC2):c.4449A>G (p.Arg1483=)
|
rs775115896
|
|
NM_000548.5(TSC2):c.444C>T (p.Asp148=)
|
rs767968378
|
|
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
|
|
|
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=)
|
rs1555514573
|
|
NM_000548.5(TSC2):c.4453A>C (p.Thr1485Pro)
|
rs1596418612
|
|
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=)
|
rs1555514579
|
|
NM_000548.5(TSC2):c.445A>G (p.Asn149Asp)
|
rs878854107
|
|
NM_000548.5(TSC2):c.4460C>T (p.Ser1487Phe)
|
|
|
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=)
|
rs777104003
|
|
NM_000548.5(TSC2):c.4462A>G (p.Asn1488Asp)
|
rs1203541600
|
|
NM_000548.5(TSC2):c.4463A>C (p.Asn1488Thr)
|
rs999699219
|
|
NM_000548.5(TSC2):c.4463A>G (p.Asn1488Ser)
|
rs999699219
|
|
NM_000548.5(TSC2):c.4464T>A (p.Asn1488Lys)
|
rs2090541614
|
|
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)
|
rs587778740
|
|
NM_000548.5(TSC2):c.4468G>A (p.Glu1490Lys)
|
rs2090542133
|
|
NM_000548.5(TSC2):c.4470G>T (p.Glu1490Asp)
|
rs1221986548
|
|
NM_000548.5(TSC2):c.4470_4471del (p.Lys1491fs)
|
rs2151537568
|
|
NM_000548.5(TSC2):c.4470_4471delinsTT (p.Glu1490_Lys1491delinsAspTer)
|
rs2090542594
|
|
NM_000548.5(TSC2):c.4471A>C (p.Lys1491Gln)
|
|
|
NM_000548.5(TSC2):c.4471A>G (p.Lys1491Glu)
|
rs2090542726
|
|
NM_000548.5(TSC2):c.4472A>G (p.Lys1491Arg)
|
rs2090543060
|
|
NM_000548.5(TSC2):c.4473A>C (p.Lys1491Asn)
|
rs1266546987
|
|
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=)
|
rs1266546987
|
|
NM_000548.5(TSC2):c.4473A>T (p.Lys1491Asn)
|
rs1266546987
|
|
NM_000548.5(TSC2):c.4473del (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4473dup (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4476G>A (p.Val1492=)
|
rs1596418854
|
|
NM_000548.5(TSC2):c.4476G>T (p.Val1492=)
|
rs1596418854
|
|
NM_000548.5(TSC2):c.4477C>G (p.Pro1493Ala)
|
rs878854108
|
|
NM_000548.5(TSC2):c.4477C>T (p.Pro1493Ser)
|
rs878854108
|
|
NM_000548.5(TSC2):c.4478C>A (p.Pro1493Gln)
|
rs2090543900
|
|
NM_000548.5(TSC2):c.4478C>T (p.Pro1493Leu)
|
rs2090543900
|
|
NM_000548.5(TSC2):c.4481G>C (p.Gly1494Ala)
|
|
|
NM_000548.5(TSC2):c.4482C>T (p.Gly1494=)
|
|
|
NM_000548.5(TSC2):c.4484T>G (p.Ile1495Ser)
|
|
|
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4485C>T (p.Ile1495=)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4486A>G (p.Asn1496Asp)
|
rs2090544468
|
|
NM_000548.5(TSC2):c.4487A>T (p.Asn1496Ile)
|
|
|
NM_000548.5(TSC2):c.4488C>T (p.Asn1496=)
|
rs2151538251
|
|
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.448G>A (p.Gly150Arg)
|
|
|
NM_000548.5(TSC2):c.4490C>A (p.Pro1497His)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4491C>T (p.Pro1497=)
|
rs955680135
|
|
NM_000548.5(TSC2):c.4492A>T (p.Ser1498Cys)
|
|
|
NM_000548.5(TSC2):c.4493+10T>A
|
rs764108528
|
|
NM_000548.5(TSC2):c.4493+10T>C
|
rs764108528
|
|
NM_000548.5(TSC2):c.4493+10_4493+37del
|
rs2151538947
|
|
NM_000548.5(TSC2):c.4493+11T>G
|
|
|
NM_000548.5(TSC2):c.4493+12G>C
|
|
|
NM_000548.5(TSC2):c.4493+12_4493+15del
|
rs1555514698
|
|
NM_000548.5(TSC2):c.4493+13C>A
|
rs757183419
|
|
NM_000548.5(TSC2):c.4493+15T>C
|
rs2090547818
|
|
NM_000548.5(TSC2):c.4493+16_4493+17delinsGT
|
rs2151539107
|
|
NM_000548.5(TSC2):c.4493+17C>A
|
rs45517345
|
|
NM_000548.5(TSC2):c.4493+19G>A
|
|
|
NM_000548.5(TSC2):c.4493+1G>A
|
rs1057518230
|
|
NM_000548.5(TSC2):c.4493+1G>C
|
|
|
NM_000548.5(TSC2):c.4493+20G>A
|
rs2090548880
|
|
NM_000548.5(TSC2):c.4493+25_4493+47del
|
|
|
NM_000548.5(TSC2):c.4493+3G>A
|
rs1259786285
|
|
NM_000548.5(TSC2):c.4493+3G>C
|
|
|
NM_000548.5(TSC2):c.4493+3_4493+4delinsAT
|
rs2151538673
|
|
NM_000548.5(TSC2):c.4493+4G>C
|
|
|
NM_000548.5(TSC2):c.4493+5G>A
|
rs752851868
|
|
NM_000548.5(TSC2):c.4493+6C>T
|
rs1555514697
|
|
NM_000548.5(TSC2):c.4493+7C>T
|
|
|
NM_000548.5(TSC2):c.4493+8T>A
|
rs2090546767
|
|
NM_000548.5(TSC2):c.4494-10C>G
|
rs753499012
|
|
NM_000548.5(TSC2):c.4494-12del
|
|
|
NM_000548.5(TSC2):c.4494-12dup
|
rs2090575419
|
|
NM_000548.5(TSC2):c.4494-13C>T
|
rs981915272
|
|
NM_000548.5(TSC2):c.4494-14C>T
|
|
|
NM_000548.5(TSC2):c.4494-15C>G
|
rs993595235
|
|
NM_000548.5(TSC2):c.4494-17A>T
|
|
|
NM_000548.5(TSC2):c.4494-17_4494-9del
|
|
|
NM_000548.5(TSC2):c.4494-18C>T
|
|
|
NM_000548.5(TSC2):c.4494-1G>A
|
rs45517346
|
|
NM_000548.5(TSC2):c.4494-20A>G
|
|
|
NM_000548.5(TSC2):c.4494-2A>G
|
rs397514990
|
|
NM_000548.5(TSC2):c.4494-3C>T
|
rs2151542933
|
|
NM_000548.5(TSC2):c.4494-7T>C
|
rs1060504099
|
|
NM_000548.5(TSC2):c.4494-8C>T
|
rs2090576761
|
|
NM_000548.5(TSC2):c.4495T>G (p.Phe1499Val)
|
rs2151543061
|
|
NM_000548.5(TSC2):c.4496T>C (p.Phe1499Ser)
|
rs1596422033
|
|
NM_000548.5(TSC2):c.4496T>G (p.Phe1499Cys)
|
rs1596422033
|
|
NM_000548.5(TSC2):c.4497C>G (p.Phe1499Leu)
|
rs372974007
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
NM_000548.5(TSC2):c.4498G>C (p.Val1500Leu)
|
|
|
NM_000548.5(TSC2):c.4499T>C (p.Val1500Ala)
|
rs45517347
|
|
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly)
|
rs45517347
|
|
NM_000548.5(TSC2):c.449G>A (p.Gly150Glu)
|
|
|
NM_000548.5(TSC2):c.4500G>C (p.Val1500=)
|
|
|
NM_000548.5(TSC2):c.4502T>C (p.Phe1501Ser)
|
rs2090578878
|
|
NM_000548.5(TSC2):c.4503C>G (p.Phe1501Leu)
|
|
|
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met)
|
rs928525608
|
|
NM_000548.5(TSC2):c.4504del (p.Leu1502fs)
|
rs137854160
|
|
NM_000548.5(TSC2):c.4506G>A (p.Leu1502=)
|
rs1555514870
|
|
NM_000548.5(TSC2):c.4506G>C (p.Leu1502=)
|
rs1555514870
|
|
NM_000548.5(TSC2):c.4506G>T (p.Leu1502=)
|
rs1555514870
|
|
NM_000548.5(TSC2):c.4507C>A (p.Gln1503Lys)
|
rs45517348
|
|
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.4508A>G (p.Gln1503Arg)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4509G>A (p.Gln1503=)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4509G>C (p.Gln1503His)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4512C>A (p.Leu1504=)
|
rs771595886
|
|
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=)
|
rs771595886
|
|
NM_000548.5(TSC2):c.4513T>C (p.Tyr1505His)
|
|
|
NM_000548.5(TSC2):c.4514A>G (p.Tyr1505Cys)
|
rs2090580905
|
|
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4515C>T (p.Tyr1505=)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4516C>G (p.His1506Asp)
|
rs1173459869
|
|
NM_000548.5(TSC2):c.4516del (p.His1506fs)
|
rs137854017
|
|
NM_000548.5(TSC2):c.4517A>C (p.His1506Pro)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4517A>G (p.His1506Arg)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4517A>T (p.His1506Leu)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4519T>G (p.Ser1507Ala)
|
rs781736405
|
|
NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4522C>T (p.Pro1508Ser)
|
rs2090582590
|
|
NM_000548.5(TSC2):c.4522_4524del (p.Pro1508del)
|
|
|
NM_000548.5(TSC2):c.4523C>G (p.Pro1508Arg)
|
|
|
NM_000548.5(TSC2):c.4523C>T (p.Pro1508Leu)
|
rs2151543885
|
|
NM_000548.5(TSC2):c.4524C>A (p.Pro1508=)
|
rs1596422510
|
|
NM_000548.5(TSC2):c.4524C>T (p.Pro1508=)
|
rs1596422510
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4524del (p.Phe1509fs)
|
rs1567526941
|
|
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)
|
rs775919951
|
|
NM_000548.5(TSC2):c.4528T>A (p.Phe1510Ile)
|
rs2090583733
|
|
NM_000548.5(TSC2):c.4529T>A (p.Phe1510Tyr)
|
rs2090583886
|
|
NM_000548.5(TSC2):c.4530T>C (p.Phe1510=)
|
|
|
NM_000548.5(TSC2):c.4530T>G (p.Phe1510Leu)
|
|
|
NM_000548.5(TSC2):c.4530_4531delinsAT (p.Phe1510_Gly1511delinsLeuCys)
|
rs2090584159
|
|
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4532G>T (p.Gly1511Val)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4534G>C (p.Asp1512His)
|
rs774441486
|
|
NM_000548.5(TSC2):c.4535A>G (p.Asp1512Gly)
|
rs2090584497
|
|
NM_000548.5(TSC2):c.4536C>G (p.Asp1512Glu)
|
rs35986575
|
|
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly)
|
rs1596422775
|
|
NM_000548.5(TSC2):c.4539_4540insGGGCGACGAG (p.Ser1514fs)
|
|
|
NM_000548.5(TSC2):c.453A>G (p.Arg151=)
|
rs2151043990
|
|
NM_000548.5(TSC2):c.453A>T (p.Arg151Ser)
|
rs2151043990
|
|
NM_000548.5(TSC2):c.4544A>G (p.Asn1515Ser)
|
rs2090586394
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4546A>G (p.Lys1516Glu)
|
rs1596422969
|
|
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala)
|
rs1057522800
|
|
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg)
|
rs1279603512
|
|
NM_000548.5(TSC2):c.4552A>T (p.Ile1518Phe)
|
|
|
NM_000548.5(TSC2):c.4554C>G (p.Ile1518Met)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4556T>C (p.Leu1519Pro)
|
rs1555514956
|
|
NM_000548.5(TSC2):c.4557del (p.Leu1520fs)
|
|
|
NM_000548.5(TSC2):c.4560G>A (p.Leu1520=)
|
|
|
NM_000548.5(TSC2):c.4560G>C (p.Leu1520=)
|
|
|
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=)
|
rs1596423200
|
|
NM_000548.5(TSC2):c.4562C>G (p.Pro1521Arg)
|
rs1060500966
|
|
NM_000548.5(TSC2):c.4562C>T (p.Pro1521Leu)
|
rs1060500966
|
|
NM_000548.5(TSC2):c.4563C>A (p.Pro1521=)
|
rs989650743
|
|
NM_000548.5(TSC2):c.4563C>T (p.Pro1521=)
|
rs989650743
|
|
NM_000548.5(TSC2):c.4564A>G (p.Asn1522Asp)
|
rs2090589266
|
|
NM_000548.5(TSC2):c.4565A>C (p.Asn1522Thr)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4566T>G (p.Asn1522Lys)
|
|
|
NM_000548.5(TSC2):c.4567G>A (p.Glu1523Lys)
|
rs2090589588
|
|
NM_000548.5(TSC2):c.4568A>C (p.Glu1523Ala)
|
rs777406873
|
|
NM_000548.5(TSC2):c.4569+10G>A
|
rs2151545475
|
|
NM_000548.5(TSC2):c.4569+12C>G
|
rs45517350
|
|
NM_000548.5(TSC2):c.4569+14C>A
|
|
|
NM_000548.5(TSC2):c.4569+14C>T
|
|
|
NM_000548.5(TSC2):c.4569+15C>G
|
|
|
NM_000548.5(TSC2):c.4569+16C>A
|
|
|
NM_000548.5(TSC2):c.4569+17T>A
|
|
|
NM_000548.5(TSC2):c.4569+18C>G
|
|
|
NM_000548.5(TSC2):c.4569+19T>G
|
|
|
NM_000548.5(TSC2):c.4569+19_4569+20del
|
|
|
NM_000548.5(TSC2):c.4569+1G>A
|
rs1060500972
|
|
NM_000548.5(TSC2):c.4569+1G>T
|
rs1060500972
|
|
NM_000548.5(TSC2):c.4569+22_4569+28del
|
|
|
NM_000548.5(TSC2):c.4569+2T>A
|
rs1555514984
|
|
NM_000548.5(TSC2):c.4569+2T>C
|
|
|
NM_000548.5(TSC2):c.4569+2T>G
|
rs1555514984
|
|
NM_000548.5(TSC2):c.4569+2_4569+5del
|
rs2151545272
|
|
NM_000548.5(TSC2):c.4569+3A>G
|
rs2090590453
|
|
NM_000548.5(TSC2):c.4569+46C>T
|
rs45482793
|
|
NM_000548.5(TSC2):c.4569+47G>A
|
rs45517351
|
|
NM_000548.5(TSC2):c.4569+8T>C
|
|
|
NM_000548.5(TSC2):c.4569+9G>A
|
rs1596423506
|
|
NM_000548.5(TSC2):c.4569G>A (p.Glu1523=)
|
rs945456651
|
|
NM_000548.5(TSC2):c.456C>T (p.His152=)
|
rs1596265401
|
|
NM_000548.5(TSC2):c.4570-10T>G
|
rs2151549277
|
|
NM_000548.5(TSC2):c.4570-11G>C
|
|
|
NM_000548.5(TSC2):c.4570-12TG[2]
|
|
|
NM_000548.5(TSC2):c.4570-13C>G
|
rs370549253
|
|
NM_000548.5(TSC2):c.4570-13C>T
|
rs370549253
|
|
NM_000548.5(TSC2):c.4570-14T>C
|
rs2151549125
|
|
NM_000548.5(TSC2):c.4570-15C>T
|
rs766813076
|
|
NM_000548.5(TSC2):c.4570-16G>T
|
|
|
NM_000548.5(TSC2):c.4570-17G>A
|
rs1236463140
|
|
NM_000548.5(TSC2):c.4570-19dup
|
rs1567528162
|
|
NM_000548.5(TSC2):c.4570-20C>A
|
|
|
NM_000548.5(TSC2):c.4570-20C>G
|
|
|
NM_000548.5(TSC2):c.4570-21_4570-11dup
|
rs137854040
|
|
NM_000548.5(TSC2):c.4570-23_4570-13del
|
rs1187880097
|
|
NM_000548.5(TSC2):c.4570-2A>G
|
rs2151549641
|
|
NM_000548.5(TSC2):c.4570-3_4570-2del
|
rs2090619495
|
|
NM_000548.5(TSC2):c.4570-4A>G
|
|
|
NM_000548.5(TSC2):c.4570-5C>T
|
|
|
NM_000548.5(TSC2):c.4570-5del
|
rs1596426242
|
|
NM_000548.5(TSC2):c.4570-66G>A
|
rs45496499
|
|
NM_000548.5(TSC2):c.4570-6C>A
|
rs2151549406
|
|
NM_000548.5(TSC2):c.4570-6C>T
|
|
|
NM_000548.5(TSC2):c.4570-9G>A
|
|
|
NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4572A>G (p.Ser1524=)
|
|
|
NM_000548.5(TSC2):c.4572_4577del (p.Gln1525_Ser1526del)
|
|
|
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs)
|
rs137854425
|
|
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4573_4574del (p.Gln1525fs)
|
rs2090620654
|
|
NM_000548.5(TSC2):c.4574A>G (p.Gln1525Arg)
|
rs1596426462
|
|
NM_000548.5(TSC2):c.4575G>A (p.Gln1525=)
|
rs1596426497
|
|
NM_000548.5(TSC2):c.4577C>G (p.Ser1526Cys)
|
|
|
NM_000548.5(TSC2):c.4578del (p.Phe1527fs)
|
rs2151550210
|
|
NM_000548.5(TSC2):c.4579T>G (p.Phe1527Val)
|
rs45514391
|
|
NM_000548.5(TSC2):c.4580T>C (p.Phe1527Ser)
|
rs2151550358
|
|
NM_000548.5(TSC2):c.4581T>A (p.Phe1527Leu)
|
rs745860116
|
|
NM_000548.5(TSC2):c.4581T>G (p.Phe1527Leu)
|
|
|
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln)
|
rs2090622255
|
|
NM_000548.5(TSC2):c.4584G>A (p.Glu1528=)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4586G>T (p.Arg1529Leu)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4587G>A (p.Arg1529=)
|
rs2151550637
|
|
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)
|
rs1567528487
|
|
NM_000548.5(TSC2):c.4590G>C (p.Ser1530=)
|
rs377377367
|
|
NM_000548.5(TSC2):c.4591G>C (p.Val1531Leu)
|
|
|
NM_000548.5(TSC2):c.4591G>T (p.Val1531Leu)
|
|
|
NM_000548.5(TSC2):c.4592T>C (p.Val1531Ala)
|
rs2090623543
|
|
NM_000548.5(TSC2):c.4593_4594delinsTT (p.Gln1532Ter)
|
|
|
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter)
|
rs886041919
|
|
NM_000548.5(TSC2):c.4596G>A (p.Gln1532=)
|
|
|
NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe)
|
rs1567528528
|
|
NM_000548.5(TSC2):c.4597CTC[1] (p.Leu1534del)
|
|
|
NM_000548.5(TSC2):c.4599C>A (p.Leu1533=)
|
rs768431568
|
|
NM_000548.5(TSC2):c.459C>G (p.Ile153Met)
|
|
|
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)
|
rs397514958
|
|
NM_000548.5(TSC2):c.45_53del (p.Phe15_Ile17del)
|
rs2150970951
|
|
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)
|
rs397515020
|
|
NM_000548.5(TSC2):c.4600C>G (p.Leu1534Val)
|
rs375520841
|
|
NM_000548.5(TSC2):c.4602C>G (p.Leu1534=)
|
|
|
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val)
|
rs397515160
|
|
NM_000548.5(TSC2):c.4605C>A (p.Asp1535Glu)
|
rs1555515283
|
|
NM_000548.5(TSC2):c.4605C>T (p.Asp1535=)
|
rs1555515283
|
|
NM_000548.5(TSC2):c.4607A>G (p.Gln1536Arg)
|
rs2151551661
|
|
NM_000548.5(TSC2):c.4609_4662dup (p.Ile1537_Gln1554dup)
|
rs2151551613
|
|
NM_000548.5(TSC2):c.4610T>G (p.Ile1537Ser)
|
rs760056622
|
|
NM_000548.5(TSC2):c.4611C>T (p.Ile1537=)
|
|
|
NM_000548.5(TSC2):c.4612C>G (p.Pro1538Ala)
|
rs1060500930
|
|
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser)
|
rs1060500930
|
|
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln)
|
rs753060862
|
|
NM_000548.5(TSC2):c.4613C>T (p.Pro1538Leu)
|
rs753060862
|
|
NM_000548.5(TSC2):c.4616C>A (p.Ser1539Ter)
|
|
|
NM_000548.5(TSC2):c.461C>G (p.Thr154Ser)
|
|
|
NM_000548.5(TSC2):c.461C>T (p.Thr154Ile)
|
rs1215092245
|
|
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.4621_4623del (p.Asp1541del)
|
rs2090626831
|
|
NM_000548.5(TSC2):c.4622A>G (p.Asp1541Gly)
|
|
|
NM_000548.5(TSC2):c.4623C>T (p.Asp1541=)
|
rs1555515315
|
|
NM_000548.5(TSC2):c.4624A>G (p.Thr1542Ala)
|
|
|
NM_000548.5(TSC2):c.4625C>A (p.Thr1542Asn)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4625C>G (p.Thr1542Ser)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4625C>T (p.Thr1542Ile)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4626C>T (p.Thr1542=)
|
rs1164781795
|
|
NM_000548.5(TSC2):c.4627C>T (p.His1543Tyr)
|
rs1567528890
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)
|
|
|
NM_000548.5(TSC2):c.4629C>T (p.His1543=)
|
|
|
NM_000548.5(TSC2):c.462C>T (p.Thr154=)
|
rs2151044315
|
|
NM_000548.5(TSC2):c.4631A>C (p.Lys1544Thr)
|
|
|
NM_000548.5(TSC2):c.4631A>G (p.Lys1544Arg)
|
rs2090629229
|
|
NM_000548.5(TSC2):c.4632G>C (p.Lys1544Asn)
|
|
|
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)
|
rs878854109
|
|
NM_000548.5(TSC2):c.4635C>A (p.Ile1545=)
|
|
|
NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met)
|
rs757388437
|
|
NM_000548.5(TSC2):c.4636G>T (p.Ala1546Ser)
|
rs1332979299
|
|
NM_000548.5(TSC2):c.4637_4660del (p.Ala1546_Gln1554delinsGlu)
|
rs2090630615
|
|
NM_000548.5(TSC2):c.4640T>A (p.Val1547Asp)
|
rs397514988
|
|
NM_000548.5(TSC2):c.4641C>T (p.Val1547=)
|
rs1060504087
|
|
NM_000548.5(TSC2):c.4642C>T (p.Leu1548=)
|
|
|
NM_000548.5(TSC2):c.4642del (p.Leu1548fs)
|
rs137854083
|
|
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro)
|
rs397515070
|
|
NM_000548.5(TSC2):c.4644G>A (p.Leu1548=)
|
rs780071959
|
|
NM_000548.5(TSC2):c.4644G>T (p.Leu1548=)
|
rs780071959
|
|
NM_000548.5(TSC2):c.4644del (p.Tyr1549fs)
|
rs2151553190
|
|
NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His)
|
rs45488595
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)
|
rs397515028
|
|
NM_000548.5(TSC2):c.4648G>A (p.Val1550Ile)
|
|
|
NM_000548.5(TSC2):c.4648G>T (p.Val1550Phe)
|
rs2090633103
|
|
NM_000548.5(TSC2):c.4649T>A (p.Val1550Asp)
|
rs2151553395
|
|
NM_000548.5(TSC2):c.464_466del (p.Tyr155del)
|
rs2085513777
|
|
NM_000548.5(TSC2):c.4650T>C (p.Val1550=)
|
rs1555515367
|
|
NM_000548.5(TSC2):c.4652G>A (p.Gly1551Glu)
|
|
|
NM_000548.5(TSC2):c.4653A>G (p.Gly1551=)
|
rs2151553578
|
|
NM_000548.5(TSC2):c.4655A>G (p.Glu1552Gly)
|
rs2151553694
|
|
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.4656A>G (p.Glu1552=)
|
rs878854110
|
|
NM_000548.5(TSC2):c.4657G>A (p.Gly1553Ser)
|
|
|
NM_000548.5(TSC2):c.4658G>A (p.Gly1553Asp)
|
rs2090634038
|
|
NM_000548.5(TSC2):c.4658G>T (p.Gly1553Val)
|
|
|
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter)
|
rs2090634528
|
|
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)
|
rs45473296
|
|
NM_000548.5(TSC2):c.4662+10C>A
|
rs371195832
|
|
NM_000548.5(TSC2):c.4662+11G>C
|
rs761569930
|
|
NM_000548.5(TSC2):c.4662+11G>T
|
|
|
NM_000548.5(TSC2):c.4662+13G>A
|
|
|
NM_000548.5(TSC2):c.4662+14G>A
|
|
|
NM_000548.5(TSC2):c.4662+14G>T
|
|
|
NM_000548.5(TSC2):c.4662+15C>T
|
|
|
NM_000548.5(TSC2):c.4662+16C>G
|
rs45517356
|
|
NM_000548.5(TSC2):c.4662+16del
|
rs2151554456
|
|
NM_000548.5(TSC2):c.4662+17G>C
|
rs45443002
|
|
NM_000548.5(TSC2):c.4662+17G>T
|
|
|
NM_000548.5(TSC2):c.4662+1G>A
|
rs45514095
|
|
NM_000548.5(TSC2):c.4662+1G>C
|
rs45514095
|
|
NM_000548.5(TSC2):c.4662+1G>T
|
|
|
NM_000548.5(TSC2):c.4662+2T>C
|
|
|
NM_000548.5(TSC2):c.4662+4A>C
|
|
|
NM_000548.5(TSC2):c.4662+5G>A
|
rs2090635893
|
|
NM_000548.5(TSC2):c.4662+7C>A
|
rs1555515435
|
|
NM_000548.5(TSC2):c.4662+7C>G
|
rs1555515435
|
|
NM_000548.5(TSC2):c.4662+7C>T
|
rs1555515435
|
|
NM_000548.5(TSC2):c.4662+9G>A
|
rs2151554223
|
|
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4663-10C>T
|
rs766608928
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-12C>G
|
|
|
NM_000548.5(TSC2):c.4663-12C>T
|
|
|
NM_000548.5(TSC2):c.4663-12dup
|
|
|
NM_000548.5(TSC2):c.4663-13C>A
|
rs966007423
|
|
NM_000548.5(TSC2):c.4663-13C>T
|
|
|
NM_000548.5(TSC2):c.4663-14C>G
|
|
|
NM_000548.5(TSC2):c.4663-14_4663-10del
|
rs2151568538
|
|
NM_000548.5(TSC2):c.4663-15C>T
|
rs2090761880
|
|
NM_000548.5(TSC2):c.4663-16_4663-15del
|
rs796053477
|
|
NM_000548.5(TSC2):c.4663-16dup
|
rs2151568557
|
|
NM_000548.5(TSC2):c.4663-17C>T
|
|
|
NM_000548.5(TSC2):c.4663-19C>G
|
rs2090761236
|
|
NM_000548.5(TSC2):c.4663-19C>T
|
rs2090761236
|
|
NM_000548.5(TSC2):c.4663-1G>A
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-1G>T
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-20CCTCTCC[3]
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-26_4663-17del
|
rs2151568121
|
|
NM_000548.5(TSC2):c.4663-2A>C
|
|
|
NM_000548.5(TSC2):c.4663-2A>G
|
|
|
NM_000548.5(TSC2):c.4663-4A>G
|
|
|
NM_000548.5(TSC2):c.4663-4A>T
|
rs1596437939
|
|
NM_000548.5(TSC2):c.4663-7C>T
|
rs778646938
|
|
NM_000548.5(TSC2):c.4663-7_4663-6delinsTT
|
|
|
NM_000548.5(TSC2):c.4663-8C>A
|
rs753947985
|
|
NM_000548.5(TSC2):c.4663-8C>T
|
rs753947985
|
|
NM_000548.5(TSC2):c.4663-9T>C
|
rs1596437808
|
|
NM_000548.5(TSC2):c.4663-9_4663-8del
|
rs1439192579
|
|
NM_000548.5(TSC2):c.4663A>G (p.Ser1555Gly)
|
rs1555515982
|
|
NM_000548.5(TSC2):c.4663A>T (p.Ser1555Cys)
|
rs1555515982
|
|
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn)
|
rs1354678802
|
|
NM_000548.5(TSC2):c.4665_4666insT (p.Asn1556Ter)
|
rs2151569238
|
|
NM_000548.5(TSC2):c.4666A>T (p.Asn1556Tyr)
|
rs2151569260
|
|
NM_000548.5(TSC2):c.4667A>G (p.Asn1556Ser)
|
rs1567532307
|
|
NM_000548.5(TSC2):c.4668C>T (p.Asn1556=)
|
|
|
NM_000548.5(TSC2):c.466T>C (p.Leu156=)
|
|
|
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg)
|
rs151140709
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4674G>A (p.Glu1558=)
|
rs2151569595
|
|
NM_000548.5(TSC2):c.4675C>G (p.Leu1559Val)
|
rs1327797297
|
|
NM_000548.5(TSC2):c.4675C>T (p.Leu1559Phe)
|
rs1327797297
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
NM_000548.5(TSC2):c.4678G>T (p.Ala1560Ser)
|
rs777539610
|
|
NM_000548.5(TSC2):c.4679C>T (p.Ala1560Val)
|
rs2090766850
|
|
NM_000548.5(TSC2):c.467T>G (p.Leu156Trp)
|
|
|
NM_000548.5(TSC2):c.4681A>T (p.Ile1561Phe)
|
rs2090767182
|
|
NM_000548.5(TSC2):c.4684C>A (p.Leu1562Met)
|
rs1057523304
|
|
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=)
|
rs1057523304
|
|
NM_000548.5(TSC2):c.4685T>A (p.Leu1562Gln)
|
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4686G>A (p.Leu1562=)
|
|
|
NM_000548.5(TSC2):c.4688C>G (p.Ser1563Cys)
|
|
|
NM_000548.5(TSC2):c.4688C>T (p.Ser1563Phe)
|
|
|
NM_000548.5(TSC2):c.4689C>A (p.Ser1563=)
|
|
|
NM_000548.5(TSC2):c.4689C>G (p.Ser1563=)
|
rs45517363
|
|
NM_000548.5(TSC2):c.468G>A (p.Leu156=)
|
rs2085514413
|
|
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser)
|
rs876659806
|
|
NM_000548.5(TSC2):c.4695G>C (p.Glu1565Asp)
|
rs762372483
|
|
NM_000548.5(TSC2):c.4695G>T (p.Glu1565Asp)
|
rs762372483
|
|
NM_000548.5(TSC2):c.4696C>G (p.His1566Asp)
|
rs1596438391
|
|
NM_000548.5(TSC2):c.4696C>T (p.His1566Tyr)
|
rs1596438391
|
|
NM_000548.5(TSC2):c.4699G>C (p.Gly1567Arg)
|
|
|
NM_000548.5(TSC2):c.4700G>C (p.Gly1567Ala)
|
|
|
NM_000548.5(TSC2):c.4701C>A (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4701C>G (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4701C>T (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys)
|
rs1555516036
|
|
NM_000548.5(TSC2):c.4703C>T (p.Ser1568Phe)
|
|
|
NM_000548.5(TSC2):c.4705T>C (p.Tyr1569His)
|
rs1567532712
|
|
NM_000548.5(TSC2):c.4705dup (p.Tyr1569fs)
|
|
|
NM_000548.5(TSC2):c.4706A>G (p.Tyr1569Cys)
|
rs2090771064
|
|
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter)
|
rs397515277
|
|
NM_000548.5(TSC2):c.4708A>G (p.Arg1570Gly)
|
rs45517365
|
|
NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)
|
rs397514980
|
|
NM_000548.5(TSC2):c.470A>G (p.Glu157Gly)
|
rs2085514800
|
|
NM_000548.5(TSC2):c.4710G>A (p.Arg1570=)
|
rs1389060581
|
|
NM_000548.5(TSC2):c.4710G>C (p.Arg1570Ser)
|
|
|
NM_000548.5(TSC2):c.4710G>T (p.Arg1570Ser)
|
rs1389060581
|
|
NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His)
|
rs397514905
|
|
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)
|
rs45478894
|
|
NM_000548.5(TSC2):c.4713C>T (p.Tyr1571=)
|
rs45517366
|
|
NM_000548.5(TSC2):c.4714A>C (p.Thr1572Pro)
|
|
|
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met)
|
rs1327099376
|
|
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.4717G>C (p.Glu1573Gln)
|
rs2090773157
|
|
NM_000548.5(TSC2):c.4718A>G (p.Glu1573Gly)
|
rs1567532847
|
|
NM_000548.5(TSC2):c.4722C>G (p.Phe1574Leu)
|
rs565576095
|
|
NM_000548.5(TSC2):c.4722C>T (p.Phe1574=)
|
rs565576095
|
|
NM_000548.5(TSC2):c.4723C>T (p.Leu1575=)
|
rs2151571611
|
|
NM_000548.5(TSC2):c.4725G>C (p.Leu1575=)
|
rs1308764758
|
|
NM_000548.5(TSC2):c.4725G>T (p.Leu1575=)
|
rs1308764758
|
|
NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=)
|
rs752642825
|
|
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)
|
rs796053499
|
|
NM_000548.5(TSC2):c.472G>A (p.Glu158Lys)
|
rs1596265482
|
|
NM_000548.5(TSC2):c.472G>T (p.Glu158Ter)
|
|
|
NM_000548.5(TSC2):c.4730G>T (p.Gly1577Val)
|
rs2151571979
|
|
NM_000548.5(TSC2):c.4731C>T (p.Gly1577=)
|
|
|
NM_000548.5(TSC2):c.4732C>G (p.Leu1578Val)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)
|
rs45517367
|
|
NM_000548.5(TSC2):c.4734G>C (p.Leu1578=)
|
rs1191993288
|
|
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)
|
rs45503995
|
|
NM_000548.5(TSC2):c.4736G>A (p.Gly1579Asp)
|
rs397515222
|
|
NM_000548.5(TSC2):c.4736dup (p.Arg1580fs)
|
rs2090775918
|
|
NM_000548.5(TSC2):c.4737C>A (p.Gly1579=)
|
rs2090776434
|
|
NM_000548.5(TSC2):c.4738dup (p.Arg1580fs)
|
|
|
NM_000548.5(TSC2):c.473A>G (p.Glu158Gly)
|
rs2085515389
|
|
NM_000548.5(TSC2):c.4741C>A (p.Leu1581Ile)
|
|
|
NM_000548.5(TSC2):c.4741C>T (p.Leu1581Phe)
|
rs2151572466
|
|
NM_000548.5(TSC2):c.4742T>G (p.Leu1581Arg)
|
rs2151572499
|
|
NM_000548.5(TSC2):c.4743C>T (p.Leu1581=)
|
|
|
NM_000548.5(TSC2):c.4745T>C (p.Ile1582Thr)
|
rs2151572644
|
|
NM_000548.5(TSC2):c.4746C>G (p.Ile1582Met)
|
rs751305758
|
|
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)
|
rs886039446
|
|
NM_000548.5(TSC2):c.4747G>C (p.Glu1583Gln)
|
|
|
NM_000548.5(TSC2):c.4748A>T (p.Glu1583Val)
|
rs1596439004
|
|
NM_000548.5(TSC2):c.4749G>A (p.Glu1583=)
|
rs1257270850
|
|
NM_000548.5(TSC2):c.474A>G (p.Glu158=)
|
|
|
NM_000548.5(TSC2):c.4750C>A (p.Leu1584Met)
|
|
|
NM_000548.5(TSC2):c.4750C>T (p.Leu1584=)
|
rs2151572888
|
|
NM_000548.5(TSC2):c.4751T>C (p.Leu1584Pro)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4752G>A (p.Leu1584=)
|
rs1555516171
|
|
NM_000548.5(TSC2):c.4753A>G (p.Lys1585Glu)
|
|
|
NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg)
|
|
|
NM_000548.5(TSC2):c.4755G>T (p.Lys1585Asn)
|
rs2090778953
|
|
NM_000548.5(TSC2):c.4756del (p.Asp1586fs)
|
rs2151573209
|
|
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu)
|
rs1366814192
|
|
NM_000548.5(TSC2):c.4758C>T (p.Asp1586=)
|
|
|
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)
|
rs1555497714
|
|
NM_000548.5(TSC2):c.4760G>A (p.Cys1587Tyr)
|
rs2090779491
|
|
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)
|
rs45479192
|
|
NM_000548.5(TSC2):c.4764G>A (p.Gln1588=)
|
rs876659800
|
|
NM_000548.5(TSC2):c.4764G>C (p.Gln1588His)
|
rs876659800
|
|
NM_000548.5(TSC2):c.4768G>T (p.Asp1590Tyr)
|
rs2090780462
|
|
NM_000548.5(TSC2):c.4769A>C (p.Asp1590Ala)
|
|
|
NM_000548.5(TSC2):c.4769A>T (p.Asp1590Val)
|
rs2090780608
|
|
NM_000548.5(TSC2):c.476A>G (p.Glu159Gly)
|
|
|
NM_000548.5(TSC2):c.476A>T (p.Glu159Val)
|
rs1555497716
|
|
NM_000548.5(TSC2):c.4770C>A (p.Asp1590Glu)
|
|
|
NM_000548.5(TSC2):c.4770C>G (p.Asp1590Glu)
|
|
|
NM_000548.5(TSC2):c.4770C>T (p.Asp1590=)
|
rs1596439135
|
|
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg)
|
rs1596439144
|
|
NM_000548.5(TSC2):c.4772del (p.Lys1591fs)
|
rs2151573795
|
|
NM_000548.5(TSC2):c.4774G>A (p.Val1592Met)
|
|
|
NM_000548.5(TSC2):c.4775T>C (p.Val1592Ala)
|
|
|
NM_000548.5(TSC2):c.4776G>A (p.Val1592=)
|
rs2151573973
|
|
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)
|
rs45511204
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4783G>C (p.Gly1595Arg)
|
|
|
NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)
|
|
|
NM_000548.5(TSC2):c.4786_4788dup (p.Gly1596dup)
|
rs2090782530
|
|
NM_000548.5(TSC2):c.4787G>A (p.Gly1596Asp)
|
rs397515014
|
|
NM_000548.5(TSC2):c.4787G>C (p.Gly1596Ala)
|
rs397515014
|
|
NM_000548.5(TSC2):c.4788C>G (p.Gly1596=)
|
rs1596439233
|
|
NM_000548.5(TSC2):c.4788C>T (p.Gly1596=)
|
rs1596439233
|
|
NM_000548.5(TSC2):c.4789C>T (p.Leu1597=)
|
|
|
NM_000548.5(TSC2):c.4791G>A (p.Leu1597=)
|
|
|
NM_000548.5(TSC2):c.4791G>C (p.Leu1597=)
|
rs1060504112
|
|
NM_000548.5(TSC2):c.4793A>T (p.Asp1598Val)
|
rs2151574689
|
|
NM_000548.5(TSC2):c.4794C>A (p.Asp1598Glu)
|
|
|
NM_000548.5(TSC2):c.4794C>G (p.Asp1598Glu)
|
rs548102930
|
|
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu)
|
rs772687631
|
|
NM_000548.5(TSC2):c.4795G>T (p.Val1599Leu)
|
|
|
NM_000548.5(TSC2):c.4795del (p.Val1599fs)
|
|
|
NM_000548.5(TSC2):c.4796T>C (p.Val1599Ala)
|
|
|
NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer)
|
rs2090784195
|
|
NM_000548.5(TSC2):c.4799G>T (p.Cys1600Phe)
|
rs1596439356
|
|
NM_000548.5(TSC2):c.479T>A (p.Leu160Gln)
|
rs1555497725
|
|
NM_000548.5(TSC2):c.479T>C (p.Leu160Pro)
|
|
|
NM_000548.5(TSC2):c.479T>G (p.Leu160Arg)
|
rs1555497725
|
|
NM_000548.5(TSC2):c.4800_4801del (p.Cys1600fs)
|
rs1567533467
|
|
NM_000548.5(TSC2):c.4802G>C (p.Gly1601Ala)
|
|
|
NM_000548.5(TSC2):c.4803dup (p.Glu1602Ter)
|
rs2090784696
|
|
NM_000548.5(TSC2):c.4804G>A (p.Glu1602Lys)
|
rs2151575081
|
|
NM_000548.5(TSC2):c.4804G>T (p.Glu1602Ter)
|
|
|
NM_000548.5(TSC2):c.4806G>A (p.Glu1602=)
|
|
|
NM_000548.5(TSC2):c.4806G>T (p.Glu1602Asp)
|
rs1177233720
|
|
NM_000548.5(TSC2):c.481+10A>C
|
rs1196443311
|
|
NM_000548.5(TSC2):c.481+11C>G
|
|
|
NM_000548.5(TSC2):c.481+11C>T
|
rs975536162
|
|
NM_000548.5(TSC2):c.481+14T>C
|
|
|
NM_000548.5(TSC2):c.481+15G>A
|
|
|
NM_000548.5(TSC2):c.481+16G>C
|
|
|
NM_000548.5(TSC2):c.481+18T>C
|
|
|
NM_000548.5(TSC2):c.481+19T>G
|
|
|
NM_000548.5(TSC2):c.481+1G>A
|
rs45488500
|
|
NM_000548.5(TSC2):c.481+3G>C
|
|
|
NM_000548.5(TSC2):c.481+4G>A
|
|
|
NM_000548.5(TSC2):c.481+5G>A
|
rs137854135
|
|
NM_000548.5(TSC2):c.481+7G>T
|
rs752730339
|
|
NM_000548.5(TSC2):c.4811del (p.Gly1604fs)
|
rs2090785469
|
|
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)
|
rs397514888
|
|
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup)
|
rs1596439426
|
|
NM_000548.5(TSC2):c.4814A>C (p.Gln1605Pro)
|
rs1001010265
|
|
NM_000548.5(TSC2):c.4815G>A (p.Gln1605=)
|
rs2151575480
|
|
NM_000548.5(TSC2):c.4816T>G (p.Phe1606Val)
|
rs2090786390
|
|
NM_000548.5(TSC2):c.4818C>T (p.Phe1606=)
|
|
|
NM_000548.5(TSC2):c.482-11T>C
|
|
|
NM_000548.5(TSC2):c.482-13G>A
|
rs1221885368
|
|
NM_000548.5(TSC2):c.482-13G>C
|
rs1221885368
|
|
NM_000548.5(TSC2):c.482-13G>T
|
|
|
NM_000548.5(TSC2):c.482-14C>A
|
rs757054946
|
|
NM_000548.5(TSC2):c.482-18C>T
|
|
|
NM_000548.5(TSC2):c.482-1G>C
|
rs137854306
|
|
NM_000548.5(TSC2):c.482-20T>A
|
rs548831116
|
|
NM_000548.5(TSC2):c.482-20T>C
|
rs548831116
|
|
NM_000548.5(TSC2):c.482-20_482-15del
|
rs2151057828
|
|
NM_000548.5(TSC2):c.482-3dup
|
|
|
NM_000548.5(TSC2):c.482-4_482-3delinsGT
|
rs2085650597
|
|
NM_000548.5(TSC2):c.482-5C>G
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-5C>T
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-6C>A
|
|
|
NM_000548.5(TSC2):c.482-6C>G
|
|
|
NM_000548.5(TSC2):c.482-7C>A
|
rs2085648892
|
|
NM_000548.5(TSC2):c.482-7C>G
|
rs2085648892
|
|
NM_000548.5(TSC2):c.482-7C>T
|
|
|
NM_000548.5(TSC2):c.482-9C>A
|
|
|
NM_000548.5(TSC2):c.482-9C>G
|
rs1060504096
|
|
NM_000548.5(TSC2):c.4821C>G (p.Thr1607=)
|
rs2090786691
|
|
NM_000548.5(TSC2):c.4821C>T (p.Thr1607=)
|
rs2090786691
|
|
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)
|
rs878854111
|
|
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)
|
rs137854399
|
|
NM_000548.5(TSC2):c.4824C>G (p.Tyr1608Ter)
|
|
|
NM_000548.5(TSC2):c.4826G>T (p.Cys1609Phe)
|
rs1233744012
|
|
NM_000548.5(TSC2):c.4827C>A (p.Cys1609Ter)
|
rs1179490369
|
|
NM_000548.5(TSC2):c.4827C>T (p.Cys1609=)
|
rs1179490369
|
|
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>G (p.Ala161Gly)
|
rs45481496
|
|
NM_000548.5(TSC2):c.482C>T (p.Ala161Val)
|
rs45481496
|
|
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter)
|
rs45517372
|
|
NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer)
|
rs1596439555
|
|
NM_000548.5(TSC2):c.4831C>T (p.His1611Tyr)
|
rs1596439600
|
|
NM_000548.5(TSC2):c.4832A>T (p.His1611Leu)
|
|
|
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr)
|
rs886051795
|
|
NM_000548.5(TSC2):c.4834_4850-95del
|
rs2151576283
|
|
NM_000548.5(TSC2):c.4836T>C (p.Asp1612=)
|
rs2151576368
|
|
NM_000548.5(TSC2):c.4836_4839dup (p.Ile1614Ter)
|
|
|
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)
|
rs137854331
|
|
NM_000548.5(TSC2):c.4840A>G (p.Ile1614Val)
|
|
|
NM_000548.5(TSC2):c.4841T>G (p.Ile1614Ser)
|
rs2090789775
|
|
NM_000548.5(TSC2):c.4844T>G (p.Met1615Arg)
|
rs2090790157
|
|
NM_000548.5(TSC2):c.4844_4845dup (p.Gln1616fs)
|
rs2151576756
|
|
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile)
|
rs2090790316
|
|
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)
|
rs45455296
|
|
NM_000548.5(TSC2):c.4847A>G (p.Gln1616Arg)
|
rs1555516313
|
|
NM_000548.5(TSC2):c.4848A>C (p.Gln1616His)
|
rs762819541
|
|
NM_000548.5(TSC2):c.4848A>T (p.Gln1616His)
|
rs762819541
|
|
NM_000548.5(TSC2):c.4849+11G>C
|
|
|
NM_000548.5(TSC2):c.4849+14C>T
|
rs2090793588
|
|
NM_000548.5(TSC2):c.4849+15C>A
|
|
|
NM_000548.5(TSC2):c.4849+15C>T
|
|
|
NM_000548.5(TSC2):c.4849+18C>G
|
rs45517374
|
|
NM_000548.5(TSC2):c.4849+18_4849+19insGGT
|
|
|
NM_000548.5(TSC2):c.4849+19C>A
|
|
|
NM_000548.5(TSC2):c.4849+1G>A
|
rs45517375
|
|
NM_000548.5(TSC2):c.4849+1G>T
|
rs45517375
|
|
NM_000548.5(TSC2):c.4849+20C>G
|
rs140884776
|
|
NM_000548.5(TSC2):c.4849+20C>T
|
rs140884776
|
|
NM_000548.5(TSC2):c.4849+20dup
|
rs761594826
|
|
NM_000548.5(TSC2):c.4849+3A>G
|
rs1057521378
|
|
NM_000548.5(TSC2):c.4849+4C>A
|
rs370426490
|
|
NM_000548.5(TSC2):c.4849+4C>G
|
|
|
NM_000548.5(TSC2):c.4849+5_4849+32del
|
|
|
NM_000548.5(TSC2):c.4849+6G>T
|
|
|
NM_000548.5(TSC2):c.4849+6_4849+27del
|
rs1596439736
|
|
NM_000548.5(TSC2):c.4849+7C>T
|
rs1257925008
|
|
NM_000548.5(TSC2):c.4849+7_4849+10del
|
rs1596439740
|
|
NM_000548.5(TSC2):c.4849+8C>T
|
rs1424021009
|
|
NM_000548.5(TSC2):c.4849+9T>C
|
|
|
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr)
|
rs2090791005
|
|
NM_000548.5(TSC2):c.4850-11C>T
|
|
|
NM_000548.5(TSC2):c.4850-14C>T
|
rs397515189
|
|
NM_000548.5(TSC2):c.4850-15C>G
|
rs373982002
|
|
NM_000548.5(TSC2):c.4850-15C>T
|
rs373982002
|
|
NM_000548.5(TSC2):c.4850-16C>A
|
|
|
NM_000548.5(TSC2):c.4850-16C>T
|
rs755747804
|
|
NM_000548.5(TSC2):c.4850-17G>A
|
|
|
NM_000548.5(TSC2):c.4850-19C>A
|
|
|
NM_000548.5(TSC2):c.4850-19C>G
|
rs45517376
|
|
NM_000548.5(TSC2):c.4850-1G>A
|
rs45517377
|
|
NM_000548.5(TSC2):c.4850-20C>G
|
|
|
NM_000548.5(TSC2):c.4850-2A>G
|
rs397515315
|
|
NM_000548.5(TSC2):c.4850-3C>T
|
rs397514982
|
|
NM_000548.5(TSC2):c.4850-8A>C
|
rs372258482
|
|
NM_000548.5(TSC2):c.4850-9C>T
|
rs778560020
|
|
NM_000548.5(TSC2):c.4850C>A (p.Ala1617Asp)
|
|
|
NM_000548.5(TSC2):c.4850C>T (p.Ala1617Val)
|
rs1412545821
|
|
NM_000548.5(TSC2):c.4851C>G (p.Ala1617=)
|
|
|
NM_000548.5(TSC2):c.4852G>C (p.Val1618Leu)
|
|
|
NM_000548.5(TSC2):c.4854C>G (p.Val1618=)
|
rs45517378
|
|
NM_000548.5(TSC2):c.4857C>T (p.Phe1619=)
|
rs1596443022
|
|
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.4861A>G (p.Ile1621Val)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4861A>T (p.Ile1621Phe)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4863C>A (p.Ile1621=)
|
|
|
NM_000548.5(TSC2):c.4866C>T (p.Ala1622=)
|
rs775723717
|
|
NM_000548.5(TSC2):c.4867A>G (p.Thr1623Ala)
|
rs749501410
|
|
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)
|
rs397515220
|
|
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=)
|
rs150239180
|
|
NM_000548.5(TSC2):c.4869_4870insAAGGCATCGTC (p.Leu1624fs)
|
rs2090851576
|
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
|
NM_000548.5(TSC2):c.4870C>T (p.Leu1624=)
|
rs786203263
|
|
NM_000548.5(TSC2):c.4872G>A (p.Leu1624=)
|
rs2151584763
|
|
NM_000548.5(TSC2):c.4873A>T (p.Met1625Leu)
|
rs774386413
|
|
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4876C>T (p.Pro1626Ser)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4877C>T (p.Pro1626Leu)
|
|
|
NM_000548.5(TSC2):c.487T>A (p.Phe163Ile)
|
|
|
NM_000548.5(TSC2):c.4880C>A (p.Thr1627Asn)
|
rs1555438434
|
|
NM_000548.5(TSC2):c.4881C>G (p.Thr1627=)
|
rs2151585189
|
|
NM_000548.5(TSC2):c.4882_4900del (p.Lys1628fs)
|
rs2151585074
|
|
NM_000548.5(TSC2):c.4884G>A (p.Lys1628=)
|
rs2090853639
|
|
NM_000548.5(TSC2):c.4885G>A (p.Asp1629Asn)
|
rs1295162020
|
|
NM_000548.5(TSC2):c.4887C>G (p.Asp1629Glu)
|
rs137854152
|
|
NM_000548.5(TSC2):c.4888G>C (p.Val1630Leu)
|
rs886051796
|
|
NM_000548.5(TSC2):c.4889T>G (p.Val1630Gly)
|
|
|
NM_000548.5(TSC2):c.4889dup (p.Asp1631fs)
|
rs2151585509
|
|
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)
|
rs1596270677
|
|
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)
|
rs137854122
|
|
NM_000548.5(TSC2):c.4890G>A (p.Val1630=)
|
rs2151585571
|
|
NM_000548.5(TSC2):c.4890G>C (p.Val1630=)
|
|
|
NM_000548.5(TSC2):c.4891G>T (p.Asp1631Tyr)
|
rs2090855331
|
|
NM_000548.5(TSC2):c.4894A>G (p.Lys1632Glu)
|
rs2090855880
|
|
NM_000548.5(TSC2):c.4896G>C (p.Lys1632Asn)
|
rs1555438475
|
|
NM_000548.5(TSC2):c.4896G>T (p.Lys1632Asn)
|
|
|
NM_000548.5(TSC2):c.4897C>T (p.His1633Tyr)
|
|
|
NM_000548.5(TSC2):c.4899C>T (p.His1633=)
|
rs1223963841
|
|
NM_000548.5(TSC2):c.48G>A (p.Lys16=)
|
|
|
NM_000548.5(TSC2):c.48G>C (p.Lys16Asn)
|
rs2084674938
|
|
NM_000548.5(TSC2):c.4900C>G (p.Arg1634Gly)
|
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
NM_000548.5(TSC2):c.4903_4917del (p.Cys1635_Arg1639del)
|
|
|
NM_000548.5(TSC2):c.4904G>A (p.Cys1635Tyr)
|
rs1555438494
|
|
NM_000548.5(TSC2):c.4905dup (p.Asp1636fs)
|
rs2151586233
|
|
NM_000548.5(TSC2):c.4906G>C (p.Asp1636His)
|
|
|
NM_000548.5(TSC2):c.4908C>A (p.Asp1636Glu)
|
|
|
NM_000548.5(TSC2):c.4909A>G (p.Lys1637Glu)
|
rs1596443444
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4914G>T (p.Lys1638Asn)
|
rs137854094
|
|
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His)
|
rs137854153
|
|
NM_000548.5(TSC2):c.4917C>T (p.Arg1639=)
|
rs1057524144
|
|
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)
|
rs45485092
|
|
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)
|
rs794727602
|
|
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg)
|
rs794727602
|
|
NM_000548.5(TSC2):c.4920C>A (p.His1640Gln)
|
rs1555438576
|
|
NM_000548.5(TSC2):c.4920C>T (p.His1640=)
|
rs1555438576
|
|
NM_000548.5(TSC2):c.4921C>G (p.Leu1641Val)
|
|
|
NM_000548.5(TSC2):c.4921C>T (p.Leu1641=)
|
rs1343423120
|
|
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4925G>C (p.Gly1642Ala)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4926C>T (p.Gly1642=)
|
rs1412821205
|
|
NM_000548.5(TSC2):c.4927A>G (p.Asn1643Asp)
|
|
|
NM_000548.5(TSC2):c.4930G>T (p.Asp1644Tyr)
|
rs137853999
|
|
NM_000548.5(TSC2):c.4932C>T (p.Asp1644=)
|
rs1395198412
|
|
NM_000548.5(TSC2):c.4933T>C (p.Phe1645Leu)
|
rs1596443758
|
|
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4935dup (p.Val1646fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4938G>A (p.Val1646=)
|
|
|
NM_000548.5(TSC2):c.4938_4939del (p.Ser1647fs)
|
|
|
NM_000548.5(TSC2):c.4940C>G (p.Ser1647Cys)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4940C>T (p.Ser1647Phe)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu)
|
rs749554579
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.4947C>G (p.Val1649=)
|
rs778989782
|
|
NM_000548.5(TSC2):c.4947C>T (p.Val1649=)
|
rs778989782
|
|
NM_000548.5(TSC2):c.4949A>C (p.Tyr1650Ser)
|
|
|
NM_000548.5(TSC2):c.4949A>T (p.Tyr1650Phe)
|
rs45501091
|
|
NM_000548.5(TSC2):c.4950C>G (p.Tyr1650Ter)
|
rs1283177454
|
|
NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)
|
|
|
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp)
|
rs2090865014
|
|
NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs)
|
rs1060500950
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.4952del (p.Asn1651fs)
|
rs2090865155
|
|
NM_000548.5(TSC2):c.4953T>C (p.Asn1651=)
|
rs2151588360
|
|
NM_000548.5(TSC2):c.4954_4955insTT (p.Asp1652fs)
|
|
|
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.4959C>G (p.Ser1653=)
|
rs45517384
|
|
NM_000548.5(TSC2):c.495G>A (p.Leu165=)
|
rs2151058683
|
|
NM_000548.5(TSC2):c.4960G>C (p.Gly1654Arg)
|
|
|
NM_000548.5(TSC2):c.4960G>T (p.Gly1654Cys)
|
rs771911660
|
|
NM_000548.5(TSC2):c.4961G>A (p.Gly1654Asp)
|
|
|
NM_000548.5(TSC2):c.4965G>A (p.Glu1655=)
|
|
|
NM_000548.5(TSC2):c.4966G>T (p.Asp1656Tyr)
|
|
|
NM_000548.5(TSC2):c.4967A>G (p.Asp1656Gly)
|
rs1567124767
|
|
NM_000548.5(TSC2):c.4967A>T (p.Asp1656Val)
|
|
|
NM_000548.5(TSC2):c.496C>A (p.Gln166Lys)
|
|
|
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)
|
rs45517111
|
|
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr)
|
rs878854112
|
|
NM_000548.5(TSC2):c.4971C>T (p.Phe1657=)
|
rs1596444029
|
|
NM_000548.5(TSC2):c.4972A>C (p.Lys1658Gln)
|
rs2090867792
|
|
NM_000548.5(TSC2):c.4972A>G (p.Lys1658Glu)
|
rs2090867792
|
|
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4974G>C (p.Lys1658Asn)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4976T>G (p.Leu1659Arg)
|
rs2090868646
|
|
NM_000548.5(TSC2):c.4979G>C (p.Gly1660Ala)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.497A>G (p.Gln166Arg)
|
|
|
NM_000548.5(TSC2):c.4980C>T (p.Gly1660=)
|
rs2090869322
|
|
NM_000548.5(TSC2):c.4982C>A (p.Thr1661Asn)
|
rs776541842
|
|
NM_000548.5(TSC2):c.4984A>G (p.Ile1662Val)
|
rs2151589566
|
|
NM_000548.5(TSC2):c.4985T>C (p.Ile1662Thr)
|
rs2151589598
|
|
NM_000548.5(TSC2):c.4988A>C (p.Lys1663Thr)
|
|
|
NM_000548.5(TSC2):c.4989+10G>A
|
|
|
NM_000548.5(TSC2):c.4989+10G>C
|
rs1357118862
|
|
NM_000548.5(TSC2):c.4989+13C>T
|
|
|
NM_000548.5(TSC2):c.4989+15G>C
|
|
|
NM_000548.5(TSC2):c.4989+17C>T
|
|
|
NM_000548.5(TSC2):c.4989+18_4989+19insTGGTGAGTGAGGGGCCGTCA
|
|
|
NM_000548.5(TSC2):c.4989+18dup
|
|
|
NM_000548.5(TSC2):c.4989+19G>T
|
|
|
NM_000548.5(TSC2):c.4989+1G>A
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+20T>C
|
|
|
NM_000548.5(TSC2):c.4989+20_4989+23del
|
rs755266040
|
|
NM_000548.5(TSC2):c.4989+2T>A
|
rs2090871271
|
|
NM_000548.5(TSC2):c.4989+5G>C
|
|
|
NM_000548.5(TSC2):c.4989+6T>C
|
|
|
NM_000548.5(TSC2):c.4989+6_4989+9del
|
rs1262967003
|
|
NM_000548.5(TSC2):c.4989+6dup
|
rs2151590002
|
|
NM_000548.5(TSC2):c.4989+7G>C
|
rs1460236999
|
|
NM_000548.5(TSC2):c.4989+7G>T
|
rs1460236999
|
|
NM_000548.5(TSC2):c.4989+8_4989+9del
|
rs1567125027
|
|
NM_000548.5(TSC2):c.4989+9G>A
|
|
|
NM_000548.5(TSC2):c.4989+9G>C
|
rs1332919495
|
|
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.4989G>C (p.Lys1663Asn)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.498G>A (p.Gln166=)
|
|
|
NM_000548.5(TSC2):c.4990-10G>A
|
rs751012275
|
|
NM_000548.5(TSC2):c.4990-10G>T
|
|
|
NM_000548.5(TSC2):c.4990-12T>A
|
|
|
NM_000548.5(TSC2):c.4990-12T>C
|
rs2151610559
|
|
NM_000548.5(TSC2):c.4990-14T>C
|
|
|
NM_000548.5(TSC2):c.4990-15C>A
|
|
|
NM_000548.5(TSC2):c.4990-15C>G
|
|
|
NM_000548.5(TSC2):c.4990-16T>C
|
|
|
NM_000548.5(TSC2):c.4990-17T>C
|
rs1455146146
|
|
NM_000548.5(TSC2):c.4990-19C>G
|
rs1244495150
|
|
NM_000548.5(TSC2):c.4990-19C>T
|
|
|
NM_000548.5(TSC2):c.4990-1G>A
|
rs1555439650
|
|
NM_000548.5(TSC2):c.4990-5G>C
|
rs753000765
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.4990-6G>A
|
rs137853987
|
|
NM_000548.5(TSC2):c.4990-6G>C
|
rs137853987
|
|
NM_000548.5(TSC2):c.4990-6G>T
|
rs137853987
|
|
NM_000548.5(TSC2):c.4990-7C>G
|
rs45457095
|
|
NM_000548.5(TSC2):c.4990-7dup
|
rs1555439636
|
|
NM_000548.5(TSC2):c.4990-8C>T
|
rs766834252
|
|
NM_000548.5(TSC2):c.4990-9T>A
|
rs1596454615
|
|
NM_000548.5(TSC2):c.4990-9T>C
|
rs1596454615
|
|
NM_000548.5(TSC2):c.4990-9del
|
rs1555439631
|
|
NM_000548.5(TSC2):c.4990G>T (p.Gly1664Cys)
|
|
|
NM_000548.5(TSC2):c.4991G>A (p.Gly1664Asp)
|
rs2091044912
|
|
NM_000548.5(TSC2):c.4991_5020del (p.Gly1664_Thr1674delinsAla)
|
rs1555439653
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)
|
rs45448101
|
|
NM_000548.5(TSC2):c.4994A>G (p.Gln1665Arg)
|
rs747018176
|
|
NM_000548.5(TSC2):c.4995G>C (p.Gln1665His)
|
rs2091045745
|
|
NM_000548.5(TSC2):c.4995G>T (p.Gln1665His)
|
|
|
NM_000548.5(TSC2):c.4997T>C (p.Phe1666Ser)
|
rs1596454907
|
|
NM_000548.5(TSC2):c.4998C>G (p.Phe1666Leu)
|
rs757221445
|
|
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp)
|
rs1182240785
|
|
NM_000548.5(TSC2):c.49A>G (p.Ile17Val)
|
rs1274194851
|
|
NM_000548.5(TSC2):c.49A>T (p.Ile17Phe)
|
|
|
NM_000548.5(TSC2):c.4G>A (p.Ala2Thr)
|
|
|
NM_000548.5(TSC2):c.4G>T (p.Ala2Ser)
|
rs769400464
|
|
NM_000548.5(TSC2):c.5000A>G (p.Asn1667Ser)
|
rs1237105821
|
|
NM_000548.5(TSC2):c.5001C>G (p.Asn1667Lys)
|
rs551938797
|
|
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)
|
rs551938797
|
|
NM_000548.5(TSC2):c.5003T>C (p.Phe1668Ser)
|
rs1555439678
|
|
NM_000548.5(TSC2):c.5004T>A (p.Phe1668Leu)
|
|
|
NM_000548.5(TSC2):c.5004T>G (p.Phe1668Leu)
|
rs745787082
|
|
NM_000548.5(TSC2):c.5005G>A (p.Val1669Ile)
|
rs2091047035
|
|
NM_000548.5(TSC2):c.5008C>A (p.His1670Asn)
|
|
|
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp)
|
rs1596454994
|
|
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)
|
rs1131691794
|
|
NM_000548.5(TSC2):c.5010C>A (p.His1670Gln)
|
rs376306544
|
|
NM_000548.5(TSC2):c.5010C>G (p.His1670Gln)
|
|
|
NM_000548.5(TSC2):c.5011G>C (p.Val1671Leu)
|
rs775395648
|
|
NM_000548.5(TSC2):c.5013_5018del (p.Ile1672_Val1673del)
|
|
|
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.5017_5068+19dup
|
rs2151612248
|
|
NM_000548.5(TSC2):c.5017del (p.Val1673fs)
|
rs2091048308
|
|
NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs)
|
rs1596455074
|
|
NM_000548.5(TSC2):c.5019C>T (p.Val1673=)
|
rs374149407
|
|
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)
|
rs755728007
|
|
NM_000548.5(TSC2):c.501_508del (p.Trp167fs)
|
|
|
NM_000548.5(TSC2):c.5021C>G (p.Thr1674Ser)
|
rs1555439727
|
|
NM_000548.5(TSC2):c.5022C>G (p.Thr1674=)
|
rs777184691
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5025G>C (p.Pro1675=)
|
|
|
NM_000548.5(TSC2):c.5025del (p.Leu1676fs)
|
rs137854382
|
|
NM_000548.5(TSC2):c.502A>C (p.Met168Leu)
|
rs779566253
|
|
NM_000548.5(TSC2):c.502A>G (p.Met168Val)
|
rs779566253
|
|
NM_000548.5(TSC2):c.502A>T (p.Met168Leu)
|
|
|
NM_000548.5(TSC2):c.5031C>G (p.Asp1677Glu)
|
|
|
NM_000548.5(TSC2):c.5032T>C (p.Tyr1678His)
|
rs1463448328
|
|
NM_000548.5(TSC2):c.5032_5034dup (p.Tyr1678dup)
|
rs2091052317
|
|
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.5035G>C (p.Glu1679Gln)
|
rs370404391
|
|
NM_000548.5(TSC2):c.5036A>C (p.Glu1679Ala)
|
rs1389903110
|
|
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser)
|
rs1555439802
|
|
NM_000548.5(TSC2):c.503T>C (p.Met168Thr)
|
rs1555498124
|
|
NM_000548.5(TSC2):c.5043C>T (p.Asn1681=)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5044C>A (p.Leu1682Met)
|
|
|
NM_000548.5(TSC2):c.5044C>G (p.Leu1682Val)
|
rs1336904838
|
|
NM_000548.5(TSC2):c.5044C>T (p.Leu1682=)
|
rs1336904838
|
|
NM_000548.5(TSC2):c.5045T>A (p.Leu1682Gln)
|
rs2091055727
|
|
NM_000548.5(TSC2):c.5045T>G (p.Leu1682Arg)
|
rs2091055727
|
|
NM_000548.5(TSC2):c.5046G>A (p.Leu1682=)
|
rs781417654
|
|
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)
|
rs1596455392
|
|
NM_000548.5(TSC2):c.5048T>G (p.Val1683Gly)
|
rs2151613782
|
|
NM_000548.5(TSC2):c.5049G>A (p.Val1683=)
|
rs1256890176
|
|
NM_000548.5(TSC2):c.5049G>C (p.Val1683=)
|
|
|
NM_000548.5(TSC2):c.504G>A (p.Met168Ile)
|
|
|
NM_000548.5(TSC2):c.5050T>A (p.Ser1684Thr)
|
|
|
NM_000548.5(TSC2):c.5051C>T (p.Ser1684Phe)
|
rs2151613906
|
|
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr)
|
rs1555439825
|
|
NM_000548.5(TSC2):c.5052C>A (p.Ser1684=)
|
rs1596455470
|
|
NM_000548.5(TSC2):c.5052C>T (p.Ser1684=)
|
rs1596455470
|
|
NM_000548.5(TSC2):c.5053C>T (p.Leu1685=)
|
rs2151614096
|
|
NM_000548.5(TSC2):c.5055G>A (p.Leu1685=)
|
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5057A>G (p.Gln1686Arg)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5058G>C (p.Gln1686His)
|
rs200700923
|
|
NM_000548.5(TSC2):c.5058G>T (p.Gln1686His)
|
rs200700923
|
|
NM_000548.5(TSC2):c.5059T>A (p.Cys1687Ser)
|
rs184892282
|
|
NM_000548.5(TSC2):c.505G>A (p.Asp169Asn)
|
rs2085657148
|
|
NM_000548.5(TSC2):c.5060G>A (p.Cys1687Tyr)
|
rs2091058156
|
|
NM_000548.5(TSC2):c.5062A>C (p.Arg1688=)
|
|
|
NM_000548.5(TSC2):c.5062A>G (p.Arg1688Gly)
|
|
|
NM_000548.5(TSC2):c.5064G>C (p.Arg1688Ser)
|
rs374476631
|
|
NM_000548.5(TSC2):c.5064G>T (p.Arg1688Ser)
|
rs374476631
|
|
NM_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer)
|
rs1555439847
|
|
NM_000548.5(TSC2):c.5065_5068+7dup
|
rs2091058869
|
|
NM_000548.5(TSC2):c.5066A>G (p.Lys1689Arg)
|
|
|
NM_000548.5(TSC2):c.5067_5068+8del
|
rs1567128655
|
|
NM_000548.5(TSC2):c.5068+11G>C
|
|
|
NM_000548.5(TSC2):c.5068+12dup
|
|
|
NM_000548.5(TSC2):c.5068+13_5068+36dup
|
|
|
NM_000548.5(TSC2):c.5068+15G>A
|
|
|
NM_000548.5(TSC2):c.5068+16G>A
|
rs2151615600
|
|
NM_000548.5(TSC2):c.5068+17C>A
|
rs1460592433
|
|
NM_000548.5(TSC2):c.5068+17_5068+49del
|
rs771294168
|
|
NM_000548.5(TSC2):c.5068+18C>G
|
rs1036320970
|
|
NM_000548.5(TSC2):c.5068+19C>G
|
rs2151615751
|
|
NM_000548.5(TSC2):c.5068+19C>T
|
|
|
NM_000548.5(TSC2):c.5068+19_5068+42dup
|
rs1567128747
|
|
NM_000548.5(TSC2):c.5068+19del
|
rs2091063774
|
|
NM_000548.5(TSC2):c.5068+1G>A
|
rs45445199
|
|
NM_000548.5(TSC2):c.5068+1G>T
|
rs45445199
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5068+43_5080del
|
|
|
NM_000548.5(TSC2):c.5068+4G>C
|
rs1420928521
|
|
NM_000548.5(TSC2):c.5068+6G>A
|
rs2091060639
|
|
NM_000548.5(TSC2):c.5068+6G>C
|
|
|
NM_000548.5(TSC2):c.5068+8C>G
|
rs747827911
|
|
NM_000548.5(TSC2):c.5068+8_5068+9insAGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCC
|
|
|
NM_000548.5(TSC2):c.5068+9G>T
|
|
|
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)
|
rs137854882
|
|
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.5069-10G>A
|
|
|
NM_000548.5(TSC2):c.5069-10G>C
|
rs1409032179
|
|
NM_000548.5(TSC2):c.5069-11A>C
|
|
|
NM_000548.5(TSC2):c.5069-12A>G
|
|
|
NM_000548.5(TSC2):c.5069-13C>G
|
|
|
NM_000548.5(TSC2):c.5069-13C>T
|
rs542607400
|
|
NM_000548.5(TSC2):c.5069-14C>A
|
|
|
NM_000548.5(TSC2):c.5069-14_5069-11del
|
rs760617977
|
|
NM_000548.5(TSC2):c.5069-14_5069-12del
|
rs397514923
|
|
NM_000548.5(TSC2):c.5069-16C>T
|
|
|
NM_000548.5(TSC2):c.5069-17C>T
|
|
|
NM_000548.5(TSC2):c.5069-18A>G
|
rs45484794
|
|
NM_000548.5(TSC2):c.5069-19G>A
|
|
|
NM_000548.5(TSC2):c.5069-19G>T
|
|
|
NM_000548.5(TSC2):c.5069-1G>C
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-2A>G
|
rs45487291
|
|
NM_000548.5(TSC2):c.5069-3C>T
|
rs2091085832
|
|
NM_000548.5(TSC2):c.5069-4C>T
|
rs1555440004
|
|
NM_000548.5(TSC2):c.5069-6C>G
|
rs1212112210
|
|
NM_000548.5(TSC2):c.5069-6C>T
|
rs1212112210
|
|
NM_000548.5(TSC2):c.5069-8C>A
|
rs796053478
|
|
NM_000548.5(TSC2):c.5069-8C>G
|
rs796053478
|
|
NM_000548.5(TSC2):c.5069A>C (p.Asp1690Ala)
|
rs2091086775
|
|
NM_000548.5(TSC2):c.506A>C (p.Asp169Ala)
|
|
|
NM_000548.5(TSC2):c.5070C>A (p.Asp1690Glu)
|
rs1596457380
|
|
NM_000548.5(TSC2):c.5070C>G (p.Asp1690Glu)
|
|
|
NM_000548.5(TSC2):c.5070C>T (p.Asp1690=)
|
rs1596457380
|
|
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)
|
rs397515110
|
|
NM_000548.5(TSC2):c.5073G>A (p.Met1691Ile)
|
rs2091087331
|
|
NM_000548.5(TSC2):c.5073_5074delinsTC (p.Met1691_Glu1692delinsIleGln)
|
rs2151619691
|
|
NM_000548.5(TSC2):c.5074dup (p.Glu1692fs)
|
rs2091087487
|
|
NM_000548.5(TSC2):c.5075A>G (p.Glu1692Gly)
|
rs984930044
|
|
NM_000548.5(TSC2):c.5075_5077del (p.Glu1692del)
|
rs2151619736
|
|
NM_000548.5(TSC2):c.5076G>A (p.Glu1692=)
|
rs1358186613
|
|
NM_000548.5(TSC2):c.5076_5104del (p.Glu1692fs)
|
rs2151619821
|
|
NM_000548.5(TSC2):c.5077G>A (p.Gly1693Ser)
|
rs2091088245
|
|
NM_000548.5(TSC2):c.5078G>A (p.Gly1693Asp)
|
|
|
NM_000548.5(TSC2):c.5079C>G (p.Gly1693=)
|
|
|
NM_000548.5(TSC2):c.507T>C (p.Asp169=)
|
|
|
NM_000548.5(TSC2):c.5080C>G (p.Leu1694Val)
|
rs760781650
|
|
NM_000548.5(TSC2):c.5080C>T (p.Leu1694Phe)
|
rs760781650
|
|
NM_000548.5(TSC2):c.5081_5082insA (p.Val1695fs)
|
rs2091089201
|
|
NM_000548.5(TSC2):c.5082T>C (p.Leu1694=)
|
rs2151620148
|
|
NM_000548.5(TSC2):c.5082del (p.Val1695fs)
|
|
|
NM_000548.5(TSC2):c.5083G>A (p.Val1695Met)
|
|
|
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala)
|
|
|
NM_000548.5(TSC2):c.5084_5086del (p.Val1695del)
|
|
|
NM_000548.5(TSC2):c.5085G>A (p.Val1695=)
|
rs2151620310
|
|
NM_000548.5(TSC2):c.5086G>A (p.Asp1696Asn)
|
rs1555440048
|
|
NM_000548.5(TSC2):c.5089A>G (p.Thr1697Ala)
|
rs2151620482
|
|
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)
|
rs1596270815
|
|
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
|
|
|
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr)
|
rs1267700080
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5097G>T (p.Val1699=)
|
|
|
NM_000548.5(TSC2):c.5099C>T (p.Ala1700Val)
|
rs2151620769
|
|
NM_000548.5(TSC2):c.509T>C (p.Val170Ala)
|
rs2085658266
|
|
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser)
|
|
|
NM_000548.5(TSC2):c.5100C>G (p.Ala1700=)
|
rs1172938826
|
|
NM_000548.5(TSC2):c.5100C>T (p.Ala1700=)
|
rs1172938826
|
|
NM_000548.5(TSC2):c.5101A>C (p.Lys1701Gln)
|
|
|
NM_000548.5(TSC2):c.5101A>G (p.Lys1701Glu)
|
rs2151620842
|
|
NM_000548.5(TSC2):c.5102A>G (p.Lys1701Arg)
|
|
|
NM_000548.5(TSC2):c.5103G>A (p.Lys1701=)
|
rs768476974
|
|
NM_000548.5(TSC2):c.5103G>C (p.Lys1701Asn)
|
|
|
NM_000548.5(TSC2):c.5103_5104del (p.Lys1701fs)
|
rs2151620921
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>G (p.Ile1702Met)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5107G>C (p.Val1703Leu)
|
|
|
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala)
|
rs45498401
|
|
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs)
|
rs397515227
|
|
NM_000548.5(TSC2):c.5109G>C (p.Val1703=)
|
rs770413433
|
|
NM_000548.5(TSC2):c.5110T>C (p.Ser1704Pro)
|
rs45474691
|
|
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter)
|
rs397515205
|
|
NM_000548.5(TSC2):c.5114_5117dup (p.Asn1707fs)
|
rs2151621480
|
|
NM_000548.5(TSC2):c.5115C>A (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5116C>A (p.Arg1706Ser)
|
|
|
NM_000548.5(TSC2):c.5116C>G (p.Arg1706Gly)
|
rs45517391
|
|
NM_000548.5(TSC2):c.5117G>T (p.Arg1706Leu)
|
rs45517392
|
|
NM_000548.5(TSC2):c.5117_5122del (p.Arg1706_Asn1707del)
|
rs2151621544
|
|
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=)
|
rs397515079
|
|
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)
|
rs1300582033
|
|
NM_000548.5(TSC2):c.5120A>C (p.Asn1707Thr)
|
|
|
NM_000548.5(TSC2):c.5120dup (p.Asn1707fs)
|
|
|
NM_000548.5(TSC2):c.5121C>G (p.Asn1707Lys)
|
rs2151621840
|
|
NM_000548.5(TSC2):c.5121C>T (p.Asn1707=)
|
|
|
NM_000548.5(TSC2):c.5122C>G (p.Leu1708Val)
|
rs1168265181
|
|
NM_000548.5(TSC2):c.5124G>A (p.Leu1708=)
|
rs2151622005
|
|
NM_000548.5(TSC2):c.5125C>A (p.Pro1709Thr)
|
|
|
NM_000548.5(TSC2):c.5125C>T (p.Pro1709Ser)
|
rs2091094853
|
|
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5127C>A (p.Pro1709=)
|
rs200162473
|
|
NM_000548.5(TSC2):c.5127C>T (p.Pro1709=)
|
rs200162473
|
|
NM_000548.5(TSC2):c.5128_5130del (p.Phe1710del)
|
|
|
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)
|
rs983899092
|
|
NM_000548.5(TSC2):c.512G>T (p.Gly171Val)
|
|
|
NM_000548.5(TSC2):c.5130C>G (p.Phe1710Leu)
|
|
|
NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu)
|
rs139779505
|
|
NM_000548.5(TSC2):c.5134G>A (p.Ala1712Thr)
|
rs1596457926
|
|
NM_000548.5(TSC2):c.5136C>T (p.Ala1712=)
|
rs878854114
|
|
NM_000548.5(TSC2):c.5137C>A (p.Arg1713Ser)
|
rs759420443
|
|
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)
|
rs45517395
|
|
NM_000548.5(TSC2):c.5139C>A (p.Arg1713=)
|
|
|
NM_000548.5(TSC2):c.5139C>T (p.Arg1713=)
|
|
|
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)
|
rs45517396
|
|
NM_000548.5(TSC2):c.5140del (p.Gln1714fs)
|
rs878854115
|
|
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
|
|
|
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val)
|
rs397514974
|
|
NM_000548.5(TSC2):c.5144T>A (p.Met1715Lys)
|
rs758246234
|
|
NM_000548.5(TSC2):c.5145G>A (p.Met1715Ile)
|
|
|
NM_000548.5(TSC2):c.5147C>T (p.Ala1716Val)
|
rs1420725409
|
|
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=)
|
rs45482604
|
|
NM_000548.5(TSC2):c.5149C>G (p.Leu1717Val)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.5149C>T (p.Leu1717=)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5150T>G (p.Leu1717Arg)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5152C>G (p.His1718Asp)
|
rs1567130289
|
|
NM_000548.5(TSC2):c.5152C>T (p.His1718Tyr)
|
rs1567130289
|
|
NM_000548.5(TSC2):c.5153A>G (p.His1718Arg)
|
|
|
NM_000548.5(TSC2):c.5155G>C (p.Ala1719Pro)
|
rs201206500
|
|
NM_000548.5(TSC2):c.5156C>A (p.Ala1719Glu)
|
|
|
NM_000548.5(TSC2):c.5156C>G (p.Ala1719Gly)
|
rs2091100543
|
|
NM_000548.5(TSC2):c.5157A>C (p.Ala1719=)
|
rs1555440217
|
|
NM_000548.5(TSC2):c.5157A>G (p.Ala1719=)
|
|
|
NM_000548.5(TSC2):c.5158A>C (p.Asn1720His)
|
|
|
NM_000548.5(TSC2):c.5158A>G (p.Asn1720Asp)
|
rs1555440225
|
|
NM_000548.5(TSC2):c.515dup (p.Leu172fs)
|
|
|
NM_000548.5(TSC2):c.5160+11G>A
|
rs374737278
|
|
NM_000548.5(TSC2):c.5160+11G>C
|
rs374737278
|
|
NM_000548.5(TSC2):c.5160+11dup
|
rs137854048
|
|
NM_000548.5(TSC2):c.5160+12T>G
|
|
|
NM_000548.5(TSC2):c.5160+14G>A
|
rs1225889890
|
|
NM_000548.5(TSC2):c.5160+16_5160+43dup
|
|
|
NM_000548.5(TSC2):c.5160+17C>A
|
|
|
NM_000548.5(TSC2):c.5160+17C>G
|
rs2151624592
|
|
NM_000548.5(TSC2):c.5160+18C>T
|
|
|
NM_000548.5(TSC2):c.5160+19A>G
|
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+20G>A
|
|
|
NM_000548.5(TSC2):c.5160+20G>T
|
|
|
NM_000548.5(TSC2):c.5160+2T>C
|
rs397515170
|
|
NM_000548.5(TSC2):c.5160+3G>A
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+3G>C
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+3G>T
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+4_5160+7dup
|
rs1567130394
|
|
NM_000548.5(TSC2):c.5160+5G>A
|
rs45515392
|
|
NM_000548.5(TSC2):c.5160+5del
|
rs2091103854
|
|
NM_000548.5(TSC2):c.5160+6T>A
|
rs1567130441
|
|
NM_000548.5(TSC2):c.5160+6T>G
|
rs1567130441
|
|
NM_000548.5(TSC2):c.5160+6_5160+8dup
|
|
|
NM_000548.5(TSC2):c.5160+7G>A
|
rs45506600
|
|
NM_000548.5(TSC2):c.5160+7G>T
|
rs45506600
|
|
NM_000548.5(TSC2):c.5160+8G>A
|
|
|
NM_000548.5(TSC2):c.5160+8G>C
|
rs2151624247
|
|
NM_000548.5(TSC2):c.5160+9G>C
|
|
|
NM_000548.5(TSC2):c.5160+9G>T
|
rs1445593661
|
|
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5160T>C (p.Asn1720=)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5161-10A>G
|
rs1800718
|
|
NM_000548.5(TSC2):c.5161-10_5161-9delinsCT
|
rs1596459629
|
|
NM_000548.5(TSC2):c.5161-12C>T
|
rs1555440351
|
|
NM_000548.5(TSC2):c.5161-13C>T
|
|
|
NM_000548.5(TSC2):c.5161-14G>A
|
|
|
NM_000548.5(TSC2):c.5161-14G>T
|
rs2151626974
|
|
NM_000548.5(TSC2):c.5161-14_5161-11dup
|
|
|
NM_000548.5(TSC2):c.5161-15T>C
|
rs397515279
|
|
NM_000548.5(TSC2):c.5161-15del
|
|
|
NM_000548.5(TSC2):c.5161-16C>T
|
rs2151626858
|
|
NM_000548.5(TSC2):c.5161-16_5161-15del
|
rs1260314271
|
|
NM_000548.5(TSC2):c.5161-16del
|
rs751705828
|
|
NM_000548.5(TSC2):c.5161-17C>G
|
|
|
NM_000548.5(TSC2):c.5161-17C>T
|
rs1256554136
|
|
NM_000548.5(TSC2):c.5161-18C>G
|
|
|
NM_000548.5(TSC2):c.5161-19C>A
|
|
|
NM_000548.5(TSC2):c.5161-19C>T
|
|
|
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.5161-20C>G
|
rs200315428
|
|
NM_000548.5(TSC2):c.5161-2A>G
|
rs1114167468
|
|
NM_000548.5(TSC2):c.5161-3C>T
|
rs1410204953
|
|
NM_000548.5(TSC2):c.5161-3del
|
rs2151627398
|
|
NM_000548.5(TSC2):c.5161-4C>A
|
rs45517406
|
|
NM_000548.5(TSC2):c.5161-5C>G
|
rs775534948
|
|
NM_000548.5(TSC2):c.5161-5C>T
|
rs775534948
|
|
NM_000548.5(TSC2):c.5161-6C>G
|
|
|
NM_000548.5(TSC2):c.5161-8G>C
|
rs374674097
|
|
NM_000548.5(TSC2):c.5161-8G>T
|
rs374674097
|
|
NM_000548.5(TSC2):c.5161-9C>A
|
rs45515893
|
|
NM_000548.5(TSC2):c.5161del (p.Met1721fs)
|
rs137854251
|
|
NM_000548.5(TSC2):c.5163G>A (p.Met1721Ile)
|
|
|
NM_000548.5(TSC2):c.5164G>A (p.Ala1722Thr)
|
rs397515270
|
|
NM_000548.5(TSC2):c.5164G>T (p.Ala1722Ser)
|
rs397515270
|
|
NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp)
|
rs1373235682
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=)
|
rs1567131059
|
|
NM_000548.5(TSC2):c.516G>C (p.Leu172Phe)
|
|
|
NM_000548.5(TSC2):c.5170C>A (p.Gln1724Lys)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5170C>G (p.Gln1724Glu)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5171A>G (p.Gln1724Arg)
|
rs923367492
|
|
NM_000548.5(TSC2):c.5172G>A (p.Gln1724=)
|
|
|
NM_000548.5(TSC2):c.5172G>T (p.Gln1724His)
|
rs774044431
|
|
NM_000548.5(TSC2):c.5173G>T (p.Val1725Leu)
|
|
|
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
|
|
|
NM_000548.5(TSC2):c.5174_5175dup (p.His1726fs)
|
rs2151628196
|
|
NM_000548.5(TSC2):c.5175G>A (p.Val1725=)
|
rs886038357
|
|
NM_000548.5(TSC2):c.5176C>G (p.His1726Asp)
|
rs761618860
|
|
NM_000548.5(TSC2):c.5176C>T (p.His1726Tyr)
|
rs761618860
|
|
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro)
|
rs1555440475
|
|
NM_000548.5(TSC2):c.517T>G (p.Ser173Ala)
|
rs2151059325
|
|
NM_000548.5(TSC2):c.5180A>G (p.His1727Arg)
|
rs1596460080
|
|
NM_000548.5(TSC2):c.5180A>T (p.His1727Leu)
|
rs1596460080
|
|
NM_000548.5(TSC2):c.5183G>A (p.Ser1728Asn)
|
rs1596460117
|
|
NM_000548.5(TSC2):c.5183G>T (p.Ser1728Ile)
|
rs1596460117
|
|
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg)
|
rs397514955
|
|
NM_000548.5(TSC2):c.5185C>G (p.Arg1729Gly)
|
rs45517409
|
|
NM_000548.5(TSC2):c.5187C>G (p.Arg1729=)
|
rs2091133958
|
|
NM_000548.5(TSC2):c.5187C>T (p.Arg1729=)
|
rs2091133958
|
|
NM_000548.5(TSC2):c.5188T>C (p.Ser1730Pro)
|
rs2151628975
|
|
NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys)
|
rs2091134565
|
|
NM_000548.5(TSC2):c.5189C>T (p.Ser1730Phe)
|
|
|
NM_000548.5(TSC2):c.518C>T (p.Ser173Phe)
|
rs773662047
|
|
NM_000548.5(TSC2):c.5190C>A (p.Ser1730=)
|
rs1305025066
|
|
NM_000548.5(TSC2):c.5191A>C (p.Asn1731His)
|
rs1555440500
|
|
NM_000548.5(TSC2):c.5192A>G (p.Asn1731Ser)
|
rs766040643
|
|
NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys)
|
rs753336580
|
|
NM_000548.5(TSC2):c.5194C>A (p.Pro1732Thr)
|
rs759007975
|
|
NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)
|
rs759007975
|
|
NM_000548.5(TSC2):c.5195C>G (p.Pro1732Arg)
|
rs1446388626
|
|
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
|
|
|
NM_000548.5(TSC2):c.5196_5199del (p.Thr1733fs)
|
|
|
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197_5202delinsGAC (p.Thr1733del)
|
rs1064792922
|
|
NM_000548.5(TSC2):c.5199C>A (p.Thr1733=)
|
rs778378296
|
|
NM_000548.5(TSC2):c.5199C>G (p.Thr1733=)
|
|
|
NM_000548.5(TSC2):c.519C>G (p.Ser173=)
|
|
|
NM_000548.5(TSC2):c.51T>C (p.Ile17=)
|
rs2150971085
|
|
NM_000548.5(TSC2):c.51dup (p.Leu18fs)
|
|
|
NM_000548.5(TSC2):c.5200_5202delinsAAC (p.Asp1734Asn)
|
rs1596460422
|
|
NM_000548.5(TSC2):c.5201A>C (p.Asp1734Ala)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5202_5203delinsCG (p.Ile1735Val)
|
|
|
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser)
|
rs786203769
|
|
NM_000548.5(TSC2):c.5204_5207del (p.Ile1735fs)
|
|
|
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)
|
rs397515053
|
|
NM_000548.5(TSC2):c.5207A>C (p.Tyr1736Ser)
|
rs746160626
|
|
NM_000548.5(TSC2):c.5207A>G (p.Tyr1736Cys)
|
|
|
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)
|
rs45517410
|
|
NM_000548.5(TSC2):c.5209C>G (p.Pro1737Ala)
|
rs780112037
|
|
NM_000548.5(TSC2):c.5211C>T (p.Pro1737=)
|
rs151298910
|
|
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)
|
rs137854408
|
|
NM_000548.5(TSC2):c.5211dup (p.Ser1738fs)
|
rs2151630268
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
NM_000548.5(TSC2):c.5213C>G (p.Ser1738Cys)
|
rs2151630518
|
|
NM_000548.5(TSC2):c.5214C>A (p.Ser1738=)
|
rs761621735
|
|
NM_000548.5(TSC2):c.5214C>G (p.Ser1738=)
|
rs761621735
|
|
NM_000548.5(TSC2):c.5214C>T (p.Ser1738=)
|
rs761621735
|
|
NM_000548.5(TSC2):c.5214del (p.Lys1739fs)
|
rs397515139
|
|
NM_000548.5(TSC2):c.5215A>G (p.Lys1739Glu)
|
|
|
NM_000548.5(TSC2):c.5216A>C (p.Lys1739Thr)
|
rs2151630716
|
|
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5220dup (p.Ile1741fs)
|
|
|
NM_000548.5(TSC2):c.5222T>C (p.Ile1741Thr)
|
rs935521633
|
|
NM_000548.5(TSC2):c.5225C>G (p.Ala1742Gly)
|
|
|
NM_000548.5(TSC2):c.5225C>T (p.Ala1742Val)
|
rs1369101862
|
|
NM_000548.5(TSC2):c.5226C>G (p.Ala1742=)
|
|
|
NM_000548.5(TSC2):c.5226C>T (p.Ala1742=)
|
|
|
NM_000548.5(TSC2):c.5226_5243del (p.His1746_Arg1751del)
|
rs2151631183
|
|
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.522G>A (p.Ser174=)
|
rs2085660429
|
|
NM_000548.5(TSC2):c.522G>C (p.Ser174=)
|
rs2085660429
|
|
NM_000548.5(TSC2):c.5230C>G (p.Leu1744Val)
|
|
|
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe)
|
rs1567132207
|
|
NM_000548.5(TSC2):c.5232C>G (p.Leu1744=)
|
|
|
NM_000548.5(TSC2):c.5234G>T (p.Arg1745Leu)
|
rs766093661
|
|
NM_000548.5(TSC2):c.5234_5241del (p.Arg1745fs)
|
rs2091147162
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
NM_000548.5(TSC2):c.5237A>G (p.His1746Arg)
|
rs2151631825
|
|
NM_000548.5(TSC2):c.5238C>A (p.His1746Gln)
|
rs1060504084
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5238_5255dup (p.His1746_Arg1751dup)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5239A>T (p.Ile1747Phe)
|
rs2151631966
|
|
NM_000548.5(TSC2):c.5239_5256del (p.Ile1747_Gln1752del)
|
rs2151632008
|
|
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.5240_5242dup (p.Ile1747dup)
|
rs1555440757
|
|
NM_000548.5(TSC2):c.5240_5251del (p.Ile1747_Arg1751delinsSer)
|
|
|
NM_000548.5(TSC2):c.5241C>A (p.Ile1747=)
|
|
|
NM_000548.5(TSC2):c.5241C>G (p.Ile1747Met)
|
|
|
NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)
|
|
|
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)
|
rs1555440785
|
|
NM_000548.5(TSC2):c.5246G>C (p.Arg1749Pro)
|
|
|
NM_000548.5(TSC2):c.5247G>A (p.Arg1749=)
|
rs2151632398
|
|
NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe)
|
rs45459299
|
|
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=)
|
rs370353005
|
|
NM_000548.5(TSC2):c.5250C>T (p.Leu1750=)
|
|
|
NM_000548.5(TSC2):c.5252G>C (p.Arg1751Pro)
|
rs373365980
|
|
NM_000548.5(TSC2):c.5252_5259+19del
|
rs137854397
|
|
NM_000548.5(TSC2):c.5252_5259+19dup
|
rs137854397
|
|
NM_000548.5(TSC2):c.5253C>T (p.Arg1751=)
|
rs1567132521
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5255A>G (p.Gln1752Arg)
|
|
|
NM_000548.5(TSC2):c.5256G>A (p.Gln1752=)
|
|
|
NM_000548.5(TSC2):c.5257C>A (p.Arg1753=)
|
rs756358402
|
|
NM_000548.5(TSC2):c.5257C>G (p.Arg1753Gly)
|
|
|
NM_000548.5(TSC2):c.5257C>T (p.Arg1753Trp)
|
rs756358402
|
|
NM_000548.5(TSC2):c.5258G>C (p.Arg1753Pro)
|
rs749487441
|
|
NM_000548.5(TSC2):c.5259+10A>G
|
rs200725584
|
|
NM_000548.5(TSC2):c.5259+11T>C
|
|
|
NM_000548.5(TSC2):c.5259+12G>A
|
|
|
NM_000548.5(TSC2):c.5259+14G>C
|
|
|
NM_000548.5(TSC2):c.5259+16C>A
|
|
|
NM_000548.5(TSC2):c.5259+16C>T
|
|
|
NM_000548.5(TSC2):c.5259+17T>C
|
rs2091158241
|
|
NM_000548.5(TSC2):c.5259+18C>G
|
|
|
NM_000548.5(TSC2):c.5259+18C>T
|
rs1469369674
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5259+20C>G
|
|
|
NM_000548.5(TSC2):c.5259+20C>T
|
rs879247127
|
|
NM_000548.5(TSC2):c.5259+2T>C
|
rs1555440894
|
|
NM_000548.5(TSC2):c.5259+2_5259+28del
|
rs759520580
|
|
NM_000548.5(TSC2):c.5259+3A>C
|
rs1555440897
|
|
NM_000548.5(TSC2):c.5259+3A>G
|
rs1555440897
|
|
NM_000548.5(TSC2):c.5259+4G>A
|
rs2091153561
|
|
NM_000548.5(TSC2):c.5259+50_5275del
|
rs2091168537
|
|
NM_000548.5(TSC2):c.5259+5G>A
|
|
|
NM_000548.5(TSC2):c.5259+7A>G
|
rs1060504122
|
|
NM_000548.5(TSC2):c.5259+7A>T
|
rs1060504122
|
|
NM_000548.5(TSC2):c.5259+8A>C
|
rs912835683
|
|
NM_000548.5(TSC2):c.5259+8A>G
|
rs912835683
|
|
NM_000548.5(TSC2):c.5259G>A (p.Arg1753=)
|
rs1060500945
|
|
NM_000548.5(TSC2):c.5259G>C (p.Arg1753=)
|
rs1060500945
|
|
NM_000548.5(TSC2):c.525A>G (p.Glu175=)
|
rs1173197942
|
|
NM_000548.5(TSC2):c.5260-10C>G
|
rs2091183190
|
|
NM_000548.5(TSC2):c.5260-10C>T
|
rs2091183190
|
|
NM_000548.5(TSC2):c.5260-10_5260-5del
|
|
|
NM_000548.5(TSC2):c.5260-10_5278del
|
rs756272343
|
|
NM_000548.5(TSC2):c.5260-11T>A
|
|
|
NM_000548.5(TSC2):c.5260-13C>A
|
rs1413775764
|
|
NM_000548.5(TSC2):c.5260-13_5260-12insTTGC
|
|
|
NM_000548.5(TSC2):c.5260-14G>T
|
rs745529697
|
|
NM_000548.5(TSC2):c.5260-16C>G
|
|
|
NM_000548.5(TSC2):c.5260-16C>T
|
|
|
NM_000548.5(TSC2):c.5260-17G>A
|
rs1476456008
|
|
NM_000548.5(TSC2):c.5260-1G>A
|
rs1057518103
|
|
NM_000548.5(TSC2):c.5260-25C>G
|
rs13332222
|
|
NM_000548.5(TSC2):c.5260-2A>C
|
rs1374323400
|
|
NM_000548.5(TSC2):c.5260-3C>T
|
|
|
NM_000548.5(TSC2):c.5260-48G>A
|
|
|
NM_000548.5(TSC2):c.5260-5T>C
|
|
|
NM_000548.5(TSC2):c.5260-6C>T
|
|
|
NM_000548.5(TSC2):c.5260-7C>A
|
rs1596462958
|
|
NM_000548.5(TSC2):c.5260-7C>T
|
rs1596462958
|
|
NM_000548.5(TSC2):c.5260-7_5260-5delinsGTGC
|
rs1567133272
|
|
NM_000548.5(TSC2):c.5260-8G>A
|
|
|
NM_000548.5(TSC2):c.5260-9_5279del
|
rs967037646
|
|
NM_000548.5(TSC2):c.5260A>G (p.Ile1754Val)
|
rs2151637498
|
|
NM_000548.5(TSC2):c.5261T>C (p.Ile1754Thr)
|
|
|
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)
|
rs762320484
|
|
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5263T>C (p.Cys1755Arg)
|
rs2151637657
|
|
NM_000548.5(TSC2):c.5264G>T (p.Cys1755Phe)
|
rs761162904
|
|
NM_000548.5(TSC2):c.5265C>G (p.Cys1755Trp)
|
rs141449031
|
|
NM_000548.5(TSC2):c.5266G>C (p.Glu1756Gln)
|
rs375075952
|
|
NM_000548.5(TSC2):c.5266G>T (p.Glu1756Ter)
|
|
|
NM_000548.5(TSC2):c.5266_5276delinsCTTCAGAT (p.Glu1756_Ala1759delinsLeuGlnIle)
|
|
|
NM_000548.5(TSC2):c.5266del (p.Glu1756fs)
|
rs878854118
|
|
NM_000548.5(TSC2):c.5268G>A (p.Glu1756=)
|
rs755229386
|
|
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
|
rs755229386
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
NM_000548.5(TSC2):c.5270A>C (p.Glu1757Ala)
|
rs2151637961
|
|
NM_000548.5(TSC2):c.5271A>C (p.Glu1757Asp)
|
rs1060500967
|
|
NM_000548.5(TSC2):c.5272G>A (p.Ala1758Thr)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5273C>T (p.Ala1758Val)
|
rs547597044
|
|
NM_000548.5(TSC2):c.5274C>A (p.Ala1758=)
|
|
|
NM_000548.5(TSC2):c.5275G>C (p.Ala1759Pro)
|
rs758450326
|
|
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val)
|
rs45477298
|
|
NM_000548.5(TSC2):c.5277C>G (p.Ala1759=)
|
rs2151638252
|
|
NM_000548.5(TSC2):c.5277C>T (p.Ala1759=)
|
rs2151638252
|
|
NM_000548.5(TSC2):c.5277del (p.Tyr1760fs)
|
|
|
NM_000548.5(TSC2):c.5278T>C (p.Tyr1760His)
|
rs2151638289
|
|
NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser)
|
rs1261020269
|
|
NM_000548.5(TSC2):c.5279_5282dup (p.Asn1762fs)
|
|
|
NM_000548.5(TSC2):c.5280C>T (p.Tyr1760=)
|
rs1555441203
|
|
NM_000548.5(TSC2):c.5280del (p.Ser1761fs)
|
|
|
NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs)
|
rs1064792923
|
|
NM_000548.5(TSC2):c.5282C>A (p.Ser1761Tyr)
|
|
|
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His)
|
|
|
NM_000548.5(TSC2):c.5284A>G (p.Asn1762Asp)
|
rs1567133600
|
|
NM_000548.5(TSC2):c.5286C>A (p.Asn1762Lys)
|
rs757204634
|
|
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=)
|
rs757204634
|
|
NM_000548.5(TSC2):c.5287C>T (p.Pro1763Ser)
|
rs2151638570
|
|
NM_000548.5(TSC2):c.5289del (p.Ser1764fs)
|
rs1555441221
|
|
NM_000548.5(TSC2):c.528C>A (p.Phe176Leu)
|
rs2151059657
|
|
NM_000548.5(TSC2):c.528C>T (p.Phe176=)
|
|
|
NM_000548.5(TSC2):c.5290A>C (p.Ser1764Arg)
|
|
|
NM_000548.5(TSC2):c.5291G>C (p.Ser1764Thr)
|
rs138831802
|
|
NM_000548.5(TSC2):c.5292C>G (p.Ser1764Arg)
|
|
|
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=)
|
rs769507440
|
|
NM_000548.5(TSC2):c.5293C>A (p.Leu1765Ile)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5293C>G (p.Leu1765Val)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5294T>C (p.Leu1765Pro)
|
rs2151638859
|
|
NM_000548.5(TSC2):c.5294_5296dup (p.Leu1765dup)
|
rs2151638830
|
|
NM_000548.5(TSC2):c.5295A>C (p.Leu1765=)
|
|
|
NM_000548.5(TSC2):c.5295A>G (p.Leu1765=)
|
rs2151638899
|
|
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)
|
rs748936673
|
|
NM_000548.5(TSC2):c.5298T>A (p.Pro1766=)
|
rs2151638999
|
|
NM_000548.5(TSC2):c.5299C>A (p.Leu1767Met)
|
rs1051758
|
|
NM_000548.5(TSC2):c.5299C>T (p.Leu1767=)
|
rs1051758
|
|
NM_000548.5(TSC2):c.52C>G (p.Leu18Val)
|
|
|
NM_000548.5(TSC2):c.52C>T (p.Leu18=)
|
rs1596234078
|
|
NM_000548.5(TSC2):c.5300T>A (p.Leu1767Gln)
|
|
|
NM_000548.5(TSC2):c.5301G>A (p.Leu1767=)
|
|
|
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)
|
rs886051798
|
|
NM_000548.5(TSC2):c.5302G>A (p.Val1768Met)
|
rs2151639120
|
|
NM_000548.5(TSC2):c.5303T>C (p.Val1768Ala)
|
rs1171556696
|
|
NM_000548.5(TSC2):c.5304G>A (p.Val1768=)
|
rs1596463459
|
|
NM_000548.5(TSC2):c.5306A>G (p.His1769Arg)
|
rs1567133809
|
|
NM_000548.5(TSC2):c.5307C>G (p.His1769Gln)
|
rs562220073
|
|
NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg)
|
rs771357054
|
|
NM_000548.5(TSC2):c.5309C>T (p.Pro1770Leu)
|
rs771357054
|
|
NM_000548.5(TSC2):c.5311C>A (p.Pro1771Thr)
|
rs777006583
|
|
NM_000548.5(TSC2):c.5311C>T (p.Pro1771Ser)
|
rs777006583
|
|
NM_000548.5(TSC2):c.5312C>A (p.Pro1771Gln)
|
rs137854214
|
|
NM_000548.5(TSC2):c.5313G>C (p.Pro1771=)
|
rs765607686
|
|
NM_000548.5(TSC2):c.5314T>G (p.Ser1772Ala)
|
rs1060500973
|
|
NM_000548.5(TSC2):c.5315C>T (p.Ser1772Phe)
|
rs2151639562
|
|
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=)
|
rs2151639594
|
|
NM_000548.5(TSC2):c.5317C>A (p.His1773Asn)
|
rs1030998097
|
|
NM_000548.5(TSC2):c.5317C>T (p.His1773Tyr)
|
|
|
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5318A>T (p.His1773Leu)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5320_5326del (p.Ser1774fs)
|
rs2091199193
|
|
NM_000548.5(TSC2):c.5321G>T (p.Ser1774Ile)
|
|
|
NM_000548.5(TSC2):c.5322C>G (p.Ser1774Arg)
|
|
|
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=)
|
rs751622894
|
|
NM_000548.5(TSC2):c.5324_5325dup (p.Ala1776fs)
|
rs2151639909
|
|
NM_000548.5(TSC2):c.5326G>C (p.Ala1776Pro)
|
|
|
NM_000548.5(TSC2):c.5326G>T (p.Ala1776Ser)
|
|
|
NM_000548.5(TSC2):c.5326_5327delinsTT (p.Ala1776Phe)
|
rs2091200200
|
|
NM_000548.5(TSC2):c.5328C>G (p.Ala1776=)
|
rs757292336
|
|
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala)
|
rs781226141
|
|
NM_000548.5(TSC2):c.5330C>A (p.Pro1777His)
|
rs1555441353
|
|
NM_000548.5(TSC2):c.5330C>G (p.Pro1777Arg)
|
rs1555441353
|
|
NM_000548.5(TSC2):c.5330_5339del (p.Pro1777fs)
|
rs2151640132
|
|
NM_000548.5(TSC2):c.5333C>A (p.Ala1778Glu)
|
|
|
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val)
|
rs755900742
|
|
NM_000548.5(TSC2):c.5335C>A (p.Gln1779Lys)
|
rs1396666232
|
|
NM_000548.5(TSC2):c.5335_5336del (p.Gln1779fs)
|
rs2151640273
|
|
NM_000548.5(TSC2):c.5337G>C (p.Gln1779His)
|
rs768237144
|
|
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro)
|
rs989487316
|
|
NM_000548.5(TSC2):c.5338A>G (p.Thr1780Ala)
|
|
|
NM_000548.5(TSC2):c.5340T>A (p.Thr1780=)
|
rs1455248686
|
|
NM_000548.5(TSC2):c.5340T>G (p.Thr1780=)
|
rs1455248686
|
|
NM_000548.5(TSC2):c.5340_5354dup (p.Pro1786_Gly1787insAlaGluProThrPro)
|
|
|
NM_000548.5(TSC2):c.5341C>A (p.Pro1781Thr)
|
rs1555441410
|
|
NM_000548.5(TSC2):c.5341C>G (p.Pro1781Ala)
|
rs1555441410
|
|
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)
|
rs878854119
|
|
NM_000548.5(TSC2):c.5344G>A (p.Ala1782Thr)
|
rs1405712076
|
|
NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser)
|
rs1405712076
|
|
NM_000548.5(TSC2):c.5345C>G (p.Ala1782Gly)
|
rs2091206453
|
|
NM_000548.5(TSC2):c.5345C>T (p.Ala1782Val)
|
|
|
NM_000548.5(TSC2):c.5346C>A (p.Ala1782=)
|
rs557200243
|
|
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=)
|
rs557200243
|
|
NM_000548.5(TSC2):c.5347G>C (p.Glu1783Gln)
|
|
|
NM_000548.5(TSC2):c.5347G>T (p.Glu1783Ter)
|
rs777166275
|
|
NM_000548.5(TSC2):c.5348A>G (p.Glu1783Gly)
|
rs1555441444
|
|
NM_000548.5(TSC2):c.5349G>A (p.Glu1783=)
|
rs2151640927
|
|
NM_000548.5(TSC2):c.5349G>T (p.Glu1783Asp)
|
|
|
NM_000548.5(TSC2):c.5350C>T (p.Pro1784Ser)
|
|
|
NM_000548.5(TSC2):c.5352C>A (p.Pro1784=)
|
rs1367848310
|
|
NM_000548.5(TSC2):c.5352C>T (p.Pro1784=)
|
rs1367848310
|
|
NM_000548.5(TSC2):c.5353A>C (p.Thr1785Pro)
|
rs1555441455
|
|
NM_000548.5(TSC2):c.5353A>G (p.Thr1785Ala)
|
rs1555441455
|
|
NM_000548.5(TSC2):c.5353A>T (p.Thr1785Ser)
|
rs1555441455
|
|
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=)
|
rs1057522896
|
|
NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser)
|
rs371543182
|
|
NM_000548.5(TSC2):c.5357C>T (p.Pro1786Leu)
|
rs770117004
|
|
NM_000548.5(TSC2):c.5358T>C (p.Pro1786=)
|
rs1230726900
|
|
NM_000548.5(TSC2):c.535G>A (p.Val179Met)
|
rs777105764
|
|
NM_000548.5(TSC2):c.5360G>A (p.Gly1787Asp)
|
|
|
NM_000548.5(TSC2):c.5361C>A (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5361C>G (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5362T>C (p.Tyr1788His)
|
rs904411432
|
|
NM_000548.5(TSC2):c.5363A>C (p.Tyr1788Ser)
|
rs397515221
|
|
NM_000548.5(TSC2):c.5364T>G (p.Tyr1788Ter)
|
rs367703283
|
|
NM_000548.5(TSC2):c.5365G>A (p.Glu1789Lys)
|
rs45517420
|
|
NM_000548.5(TSC2):c.5366_5368del (p.Glu1789del)
|
rs2151641485
|
|
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5369T>A (p.Val1790Glu)
|
rs1596464243
|
|
NM_000548.5(TSC2):c.5369T>G (p.Val1790Gly)
|
rs1596464243
|
|
NM_000548.5(TSC2):c.5370G>A (p.Val1790=)
|
rs762032752
|
|
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser)
|
rs45517421
|
|
NM_000548.5(TSC2):c.5372G>A (p.Gly1791Asp)
|
rs2091211512
|
|
NM_000548.5(TSC2):c.5372G>C (p.Gly1791Ala)
|
rs2091211512
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
NM_000548.5(TSC2):c.5373C>T (p.Gly1791=)
|
|
|
NM_000548.5(TSC2):c.5374C>T (p.Gln1792Ter)
|
|
|
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His)
|
rs45517422
|
|
NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)
|
rs1473538868
|
|
NM_000548.5(TSC2):c.5377_5378insT (p.Arg1793fs)
|
rs2151641918
|
|
NM_000548.5(TSC2):c.5377dup (p.Arg1793fs)
|
rs2151641893
|
|
NM_000548.5(TSC2):c.5378G>C (p.Arg1793Pro)
|
rs45506695
|
|
NM_000548.5(TSC2):c.537G>A (p.Val179=)
|
rs2151059968
|
|
NM_000548.5(TSC2):c.5380A>C (p.Lys1794Gln)
|
|
|
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)
|
rs137854335
|
|
NM_000548.5(TSC2):c.5383C>G (p.Arg1795Gly)
|
rs45517423
|
|
NM_000548.5(TSC2):c.5385C>A (p.Arg1795=)
|
|
|
NM_000548.5(TSC2):c.5388C>T (p.Leu1796=)
|
rs1412229429
|
|
NM_000548.5(TSC2):c.5389_5391dup (p.Ile1797_Ser1798insIle)
|
|
|
NM_000548.5(TSC2):c.538C>A (p.Leu180Met)
|
rs45485591
|
|
NM_000548.5(TSC2):c.5390T>C (p.Ile1797Thr)
|
rs2151642406
|
|
NM_000548.5(TSC2):c.5391C>T (p.Ile1797=)
|
rs571792728
|
|
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del)
|
rs796053480
|
|
NM_000548.5(TSC2):c.5393C>T (p.Ser1798Phe)
|
rs2091216208
|
|
NM_000548.5(TSC2):c.5393_*57del (p.Ser1798fs)
|
rs1567135103
|
|
NM_000548.5(TSC2):c.5394C>T (p.Ser1798=)
|
rs2151642575
|
|
NM_000548.5(TSC2):c.5395T>G (p.Ser1799Ala)
|
rs1231583517
|
|
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del)
|
rs2151642647
|
|
NM_000548.5(TSC2):c.5396C>G (p.Ser1799Trp)
|
rs778484981
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397G>T (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397_5398delinsCA (p.Val1800Met)
|
rs2091217432
|
|
NM_000548.5(TSC2):c.5399T>C (p.Val1800Ala)
|
rs2091217625
|
|
NM_000548.5(TSC2):c.5399_5401del (p.Val1800del)
|
|
|
NM_000548.5(TSC2):c.539T>G (p.Leu180Arg)
|
rs1567403610
|
|
NM_000548.5(TSC2):c.5400G>A (p.Val1800=)
|
rs777327091
|
|
NM_000548.5(TSC2):c.5400GGA[1] (p.Glu1801del)
|
rs2151642912
|
|
NM_000548.5(TSC2):c.5401_5402delinsTT (p.Glu1801Leu)
|
|
|
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs)
|
rs397514972
|
|
NM_000548.5(TSC2):c.5403G>A (p.Glu1801=)
|
rs1060500918
|
|
NM_000548.5(TSC2):c.5403G>T (p.Glu1801Asp)
|
rs1060500918
|
|
NM_000548.5(TSC2):c.5407T>C (p.Phe1803Leu)
|
|
|
NM_000548.5(TSC2):c.5408T>C (p.Phe1803Ser)
|
rs2151643160
|
|
NM_000548.5(TSC2):c.5408_5409insG (p.Phe1803fs)
|
|
|
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=)
|
rs770270816
|
|
NM_000548.5(TSC2):c.540G>A (p.Leu180=)
|
rs1567403619
|
|
NM_000548.5(TSC2):c.540G>T (p.Leu180=)
|
|
|
NM_000548.5(TSC2):c.5411C>T (p.Thr1804Ile)
|
rs2151643245
|
|
NM_000548.5(TSC2):c.5412C>A (p.Thr1804=)
|
rs397515252
|
|
NM_000548.5(TSC2):c.5412C>G (p.Thr1804=)
|
|
|
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
|
rs376017665
|
|
NM_000548.5(TSC2):c.5413G>C (p.Glu1805Gln)
|
rs376017665
|
|
NM_000548.5(TSC2):c.5413G>T (p.Glu1805Ter)
|
|
|
NM_000548.5(TSC2):c.5414A>G (p.Glu1805Gly)
|
rs2091219993
|
|
NM_000548.5(TSC2):c.5415G>C (p.Glu1805Asp)
|
rs982803529
|
|
NM_000548.5(TSC2):c.5417_5418del (p.Phe1806fs)
|
|
|
NM_000548.5(TSC2):c.5419G>A (p.Val1807Met)
|
|
|
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu)
|
rs45486402
|
|
NM_000548.5(TSC2):c.541G>A (p.Val181Met)
|
rs2151060118
|
|
NM_000548.5(TSC2):c.5421G>A (p.Val1807=)
|
rs1596464773
|
|
NM_000548.5(TSC2):c.5421G>T (p.Val1807=)
|
|
|
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg)
|
rs1567135442
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.542T>C (p.Val181Ala)
|
|
|
NM_000548.5(TSC2):c.544A>G (p.Asn182Asp)
|
|
|
NM_000548.5(TSC2):c.545A>T (p.Asn182Ile)
|
rs1016698636
|
|
NM_000548.5(TSC2):c.546C>T (p.Asn182=)
|
rs2085665682
|
|
NM_000548.5(TSC2):c.548_553del (p.Leu183_Lys185delinsTer)
|
|
|
NM_000548.5(TSC2):c.549G>A (p.Leu183=)
|
|
|
NM_000548.5(TSC2):c.549G>C (p.Leu183Phe)
|
rs1415519717
|
|
NM_000548.5(TSC2):c.54G>A (p.Leu18=)
|
rs2150971145
|
|
NM_000548.5(TSC2):c.54G>C (p.Leu18=)
|
rs2150971145
|
|
NM_000548.5(TSC2):c.54G>T (p.Leu18=)
|
rs2150971145
|
|
NM_000548.5(TSC2):c.551T>A (p.Val184Asp)
|
rs2085667006
|
|
NM_000548.5(TSC2):c.551T>G (p.Val184Gly)
|
rs2085667006
|
|
NM_000548.5(TSC2):c.552C>G (p.Val184=)
|
|
|
NM_000548.5(TSC2):c.554A>C (p.Lys185Thr)
|
rs2151060565
|
|
NM_000548.5(TSC2):c.558C>A (p.Phe186Leu)
|
rs775642056
|
|
NM_000548.5(TSC2):c.55T>C (p.Leu19=)
|
rs2150971171
|
|
NM_000548.5(TSC2):c.561T>C (p.Asn187=)
|
|
|
NM_000548.5(TSC2):c.563G>A (p.Ser188Asn)
|
|
|
NM_000548.5(TSC2):c.563G>C (p.Ser188Thr)
|
|
|
NM_000548.5(TSC2):c.564C>T (p.Ser188=)
|
rs2151060790
|
|
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser)
|
rs764218079
|
|
NM_000548.5(TSC2):c.567T>A (p.Cys189Ter)
|
rs2085669104
|
|
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)
|
rs137854359
|
|
NM_000548.5(TSC2):c.570C>T (p.Tyr190=)
|
rs397515099
|
|
NM_000548.5(TSC2):c.571C>T (p.Leu191Phe)
|
rs1555498201
|
|
NM_000548.5(TSC2):c.572T>A (p.Leu191His)
|
|
|
NM_000548.5(TSC2):c.572T>C (p.Leu191Pro)
|
|
|
NM_000548.5(TSC2):c.573C>G (p.Leu191=)
|
rs397515059
|
|
NM_000548.5(TSC2):c.573CGA[1] (p.Asp192del)
|
|
|
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn)
|
rs1284679649
|
|
NM_000548.5(TSC2):c.576C>G (p.Asp192Glu)
|
|
|
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
|
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_000548.5(TSC2):c.578A>C (p.Glu193Ala)
|
rs2085672813
|
|
NM_000548.5(TSC2):c.578A>G (p.Glu193Gly)
|
rs2085672813
|
|
NM_000548.5(TSC2):c.581A>G (p.Tyr194Cys)
|
rs1555498219
|
|
NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter)
|
rs750174170
|
|
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)
|
rs750174170
|
|
NM_000548.5(TSC2):c.585C>G (p.Ile195Met)
|
rs397515309
|
|
NM_000548.5(TSC2):c.587C>T (p.Ala196Val)
|
rs1596271211
|
|
NM_000548.5(TSC2):c.590G>A (p.Arg197Lys)
|
rs754505860
|
|
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)
|
rs45517114
|
|
NM_000548.5(TSC2):c.594G>A (p.Met198Ile)
|
rs1452242351
|
|
NM_000548.5(TSC2):c.596T>A (p.Val199Asp)
|
|
|
NM_000548.5(TSC2):c.596T>C (p.Val199Ala)
|
rs1555498243
|
|
NM_000548.5(TSC2):c.599+10G>T
|
rs1037449903
|
|
NM_000548.5(TSC2):c.599+10_599+12del
|
rs2151062256
|
|
NM_000548.5(TSC2):c.599+11A>C
|
|
|
NM_000548.5(TSC2):c.599+13T>C
|
|
|
NM_000548.5(TSC2):c.599+13T>G
|
|
|
NM_000548.5(TSC2):c.599+14T>A
|
|
|
NM_000548.5(TSC2):c.599+15G>T
|
|
|
NM_000548.5(TSC2):c.599+17_599+18insGGCCGGGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAGAATTGAG
|
|
|
NM_000548.5(TSC2):c.599+1G>A
|
rs45460895
|
|
NM_000548.5(TSC2):c.599+20C>T
|
|
|
NM_000548.5(TSC2):c.599+2T>A
|
|
|
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.599+6A>G
|
rs2085679383
|
|
NM_000548.5(TSC2):c.599+7A>G
|
|
|
NM_000548.5(TSC2):c.599+8A>G
|
rs2151062239
|
|
NM_000548.5(TSC2):c.599+9A>G
|
|
|
NM_000548.5(TSC2):c.599A>G (p.Gln200Arg)
|
rs2085677930
|
|
NM_000548.5(TSC2):c.599A>T (p.Gln200Leu)
|
|
|
NM_000548.5(TSC2):c.59G>T (p.Gly20Val)
|
rs2150971313
|
|
NM_000548.5(TSC2):c.5C>T (p.Ala2Val)
|
rs2084668501
|
|
NM_000548.5(TSC2):c.600-10C>T
|
rs1555498511
|
|
NM_000548.5(TSC2):c.600-11G>T
|
|
|
NM_000548.5(TSC2):c.600-124G>A
|
rs2151069014
|
|
NM_000548.5(TSC2):c.600-14G>T
|
|
|
NM_000548.5(TSC2):c.600-14_600-8del
|
|
|
NM_000548.5(TSC2):c.600-15C>A
|
rs369708731
|
|
NM_000548.5(TSC2):c.600-16T>C
|
|
|
NM_000548.5(TSC2):c.600-18G>C
|
rs199683502
|
|
NM_000548.5(TSC2):c.600-1G>A
|
rs45517117
|
|
NM_000548.5(TSC2):c.600-2A>G
|
rs45468592
|
|
NM_000548.5(TSC2):c.600-2A>T
|
rs45468592
|
|
NM_000548.5(TSC2):c.600-4G>A
|
|
|
NM_000548.5(TSC2):c.600-4G>T
|
rs976201466
|
|
NM_000548.5(TSC2):c.600-5T>C
|
rs779176291
|
|
NM_000548.5(TSC2):c.600-7C>T
|
rs2151070585
|
|
NM_000548.5(TSC2):c.600-8C>G
|
|
|
NM_000548.5(TSC2):c.600-9T>A
|
rs1265270587
|
|
NM_000548.5(TSC2):c.600-9T>C
|
|
|
NM_000548.5(TSC2):c.601A>G (p.Met201Val)
|
rs1596275224
|
|
NM_000548.5(TSC2):c.601A>T (p.Met201Leu)
|
rs1596275224
|
|
NM_000548.5(TSC2):c.602T>C (p.Met201Thr)
|
rs2151070731
|
|
NM_000548.5(TSC2):c.605T>C (p.Ile202Thr)
|
|
|
NM_000548.5(TSC2):c.606C>T (p.Ile202=)
|
rs2151070786
|
|
NM_000548.5(TSC2):c.609T>C (p.Cys203=)
|
rs1596275256
|
|
NM_000548.5(TSC2):c.60A>C (p.Gly20=)
|
rs1060504108
|
|
NM_000548.5(TSC2):c.60A>G (p.Gly20=)
|
rs1060504108
|
|
NM_000548.5(TSC2):c.610C>T (p.Leu204=)
|
rs1439997904
|
|
NM_000548.5(TSC2):c.612G>C (p.Leu204=)
|
|
|
NM_000548.5(TSC2):c.613C>G (p.Leu205Val)
|
rs1596275276
|
|
NM_000548.5(TSC2):c.613C>T (p.Leu205=)
|
rs1596275276
|
|
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)
|
rs2085789314
|
|
NM_000548.5(TSC2):c.615G>A (p.Leu205=)
|
rs1596275291
|
|
NM_000548.5(TSC2):c.615G>C (p.Leu205=)
|
rs1596275291
|
|
NM_000548.5(TSC2):c.616T>C (p.Cys206Arg)
|
rs1596275305
|
|
NM_000548.5(TSC2):c.617G>A (p.Cys206Tyr)
|
rs2085790261
|
|
NM_000548.5(TSC2):c.618del (p.Cys206fs)
|
rs2151070992
|
|
NM_000548.5(TSC2):c.61C>A (p.Leu21Met)
|
rs2084676177
|
|
NM_000548.5(TSC2):c.61C>G (p.Leu21Val)
|
|
|
NM_000548.5(TSC2):c.622C>A (p.Arg208=)
|
rs374410454
|
|
NM_000548.5(TSC2):c.624G>A (p.Arg208=)
|
|
|
NM_000548.5(TSC2):c.628G>C (p.Ala210Pro)
|
rs147196739
|
|
NM_000548.5(TSC2):c.629C>G (p.Ala210Gly)
|
rs764925296
|
|
NM_000548.5(TSC2):c.630G>C (p.Ala210=)
|
rs567756494
|
|
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)
|
rs878854120
|
|
NM_000548.5(TSC2):c.633C>G (p.Ser211=)
|
rs762659998
|
|
NM_000548.5(TSC2):c.633C>T (p.Ser211=)
|
rs762659998
|
|
NM_000548.5(TSC2):c.635C>G (p.Ser212Cys)
|
|
|
NM_000548.5(TSC2):c.636T>C (p.Ser212=)
|
rs2151071330
|
|
NM_000548.5(TSC2):c.637G>A (p.Val213Met)
|
rs1060500927
|
|
NM_000548.5(TSC2):c.639G>A (p.Val213=)
|
|
|
NM_000548.5(TSC2):c.641_648+1del
|
rs2085795613
|
|
NM_000548.5(TSC2):c.644T>C (p.Ile215Thr)
|
rs1555498571
|
|
NM_000548.5(TSC2):c.644_645del (p.Ile215fs)
|
|
|
NM_000548.5(TSC2):c.645_648del (p.Ile215fs)
|
rs1596275494
|
|
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln)
|
rs45517118
|
|
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)
|
rs45517118
|
|
NM_000548.5(TSC2):c.648+10T>C
|
rs2151071693
|
|
NM_000548.5(TSC2):c.648+11C>G
|
rs371896390
|
|
NM_000548.5(TSC2):c.648+11C>T
|
|
|
NM_000548.5(TSC2):c.648+12C>A
|
rs2151071734
|
|
NM_000548.5(TSC2):c.648+12C>T
|
|
|
NM_000548.5(TSC2):c.648+13C>A
|
rs2151071760
|
|
NM_000548.5(TSC2):c.648+13C>T
|
rs2151071760
|
|
NM_000548.5(TSC2):c.648+14dup
|
|
|
NM_000548.5(TSC2):c.648+17C>T
|
|
|
NM_000548.5(TSC2):c.648+18C>T
|
rs2151071875
|
|
NM_000548.5(TSC2):c.648+19C>G
|
rs1196860918
|
|
NM_000548.5(TSC2):c.648+1G>A
|
rs45488893
|
|
NM_000548.5(TSC2):c.648+20A>C
|
|
|
NM_000548.5(TSC2):c.648+4A>G
|
rs2151071557
|
|
NM_000548.5(TSC2):c.648+5G>A
|
rs2085796888
|
|
NM_000548.5(TSC2):c.648+5G>C
|
rs2085796888
|
|
NM_000548.5(TSC2):c.648+6_649-166del
|
|
|
NM_000548.5(TSC2):c.648+7G>C
|
rs1216419213
|
|
NM_000548.5(TSC2):c.648+7G>T
|
rs1216419213
|
|
NM_000548.5(TSC2):c.648+8C>G
|
|
|
NM_000548.5(TSC2):c.648+8C>T
|
|
|
NM_000548.5(TSC2):c.648+9C>G
|
rs756588732
|
|
NM_000548.5(TSC2):c.648+9C>T
|
rs756588732
|
|
NM_000548.5(TSC2):c.648G>A (p.Glu216=)
|
|
|
NM_000548.5(TSC2):c.649-11C>G
|
rs1254475243
|
|
NM_000548.5(TSC2):c.649-13C>T
|
rs1290261668
|
|
NM_000548.5(TSC2):c.649-15C>G
|
|
|
NM_000548.5(TSC2):c.649-16T>C
|
rs1417361912
|
|
NM_000548.5(TSC2):c.649-18C>A
|
rs771537061
|
|
NM_000548.5(TSC2):c.649-1G>A
|
rs794727906
|
|
NM_000548.5(TSC2):c.649-20G>T
|
rs377558380
|
|
NM_000548.5(TSC2):c.649-30A>T
|
rs2151076571
|
|
NM_000548.5(TSC2):c.649-3dup
|
|
|
NM_000548.5(TSC2):c.649-4C>T
|
rs1329743344
|
|
NM_000548.5(TSC2):c.649-5A>T
|
rs1555498745
|
|
NM_000548.5(TSC2):c.649-64_649-17del
|
|
|
NM_000548.5(TSC2):c.649-6C>T
|
rs1323228446
|
|
NM_000548.5(TSC2):c.649-7C>A
|
rs1596277822
|
|
NM_000548.5(TSC2):c.649-9C>T
|
rs781099543
|
|
NM_000548.5(TSC2):c.649G>A (p.Val217Ile)
|
rs1567407896
|
|
NM_000548.5(TSC2):c.649G>C (p.Val217Leu)
|
rs1567407896
|
|
NM_000548.5(TSC2):c.64G>A (p.Gly22Arg)
|
|
|
NM_000548.5(TSC2):c.651C>A (p.Val217=)
|
rs780004703
|
|
NM_000548.5(TSC2):c.651C>T (p.Val217=)
|
|
|
NM_000548.5(TSC2):c.653C>T (p.Ser218Phe)
|
|
|
NM_000548.5(TSC2):c.655C>G (p.Leu219Val)
|
rs369046625
|
|
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)
|
rs397515249
|
|
NM_000548.5(TSC2):c.658C>G (p.Gln220Glu)
|
rs45517119
|
|
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)
|
rs45517119
|
|
NM_000548.5(TSC2):c.65G>C (p.Gly22Ala)
|
rs2084676497
|
|
NM_000548.5(TSC2):c.661G>A (p.Val221Met)
|
rs1567408059
|
|
NM_000548.5(TSC2):c.664C>T (p.Leu222=)
|
rs2151077923
|
|
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)
|
rs45517120
|
|
NM_000548.5(TSC2):c.667G>A (p.Asp223Asn)
|
rs45517121
|
|
NM_000548.5(TSC2):c.668A>G (p.Asp223Gly)
|
|
|
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)
|
rs772558666
|
|
NM_000548.5(TSC2):c.670G>T (p.Ala224Ser)
|
rs772558666
|
|
NM_000548.5(TSC2):c.671C>T (p.Ala224Val)
|
rs2151078164
|
|
NM_000548.5(TSC2):c.673G>T (p.Val225Leu)
|
rs142919353
|
|
NM_000548.5(TSC2):c.674T>A (p.Val225Glu)
|
rs1437259556
|
|
NM_000548.5(TSC2):c.674T>C (p.Val225Ala)
|
rs1437259556
|
|
NM_000548.5(TSC2):c.675G>A (p.Val225=)
|
rs2085881355
|
|
NM_000548.5(TSC2):c.676G>C (p.Val226Leu)
|
rs2085881555
|
|
NM_000548.5(TSC2):c.678C>T (p.Val226=)
|
rs2151078413
|
|
NM_000548.5(TSC2):c.679T>C (p.Cys227Arg)
|
|
|
NM_000548.5(TSC2):c.680_682del (p.Cys227del)
|
rs2151078439
|
|
NM_000548.5(TSC2):c.683A>G (p.Tyr228Cys)
|
rs2085882405
|
|
NM_000548.5(TSC2):c.683dup (p.Tyr228Ter)
|
rs1567408314
|
|
NM_000548.5(TSC2):c.684C>T (p.Tyr228=)
|
rs397515034
|
|
NM_000548.5(TSC2):c.687C>G (p.Asn229Lys)
|
rs1555498802
|
|
NM_000548.5(TSC2):c.687C>T (p.Asn229=)
|
rs1555498802
|
|
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser)
|
rs1043187800
|
|
NM_000548.5(TSC2):c.688T>C (p.Cys230Arg)
|
rs1043187800
|
|
NM_000548.5(TSC2):c.690C>A (p.Cys230Ter)
|
|
|
NM_000548.5(TSC2):c.691_692dup (p.Pro232fs)
|
rs2151078913
|
|
NM_000548.5(TSC2):c.695C>G (p.Pro232Arg)
|
|
|
NM_000548.5(TSC2):c.697G>T (p.Ala233Ser)
|
rs1567408479
|
|
NM_000548.5(TSC2):c.697del (p.Ala233fs)
|
|
|
NM_000548.5(TSC2):c.698C>G (p.Ala233Gly)
|
rs1555498839
|
|
NM_000548.5(TSC2):c.699T>C (p.Ala233=)
|
rs1596278327
|
|
NM_000548.5(TSC2):c.699T>G (p.Ala233=)
|
rs1596278327
|
|
NM_000548.5(TSC2):c.6C>G (p.Ala2=)
|
|
|
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln)
|
rs397515018
|
|
NM_000548.5(TSC2):c.703A>G (p.Ser235Gly)
|
rs1567408536
|
|
NM_000548.5(TSC2):c.705C>A (p.Ser235Arg)
|
|
|
NM_000548.5(TSC2):c.706C>T (p.Leu236Phe)
|
|
|
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)
|
rs1596278377
|
|
NM_000548.5(TSC2):c.707_708delinsCT (p.Leu236Pro)
|
rs2085886566
|
|
NM_000548.5(TSC2):c.708_765del (p.Pro237fs)
|
rs2151079297
|
|
NM_000548.5(TSC2):c.709C>G (p.Pro237Ala)
|
rs1555498859
|
|
NM_000548.5(TSC2):c.709C>T (p.Pro237Ser)
|
rs1555498859
|
|
NM_000548.5(TSC2):c.70C>A (p.Pro24Thr)
|
rs1567380585
|
|
NM_000548.5(TSC2):c.710C>A (p.Pro237Gln)
|
rs139060277
|
|
NM_000548.5(TSC2):c.710C>G (p.Pro237Arg)
|
rs139060277
|
|
NM_000548.5(TSC2):c.710dup (p.Leu238fs)
|
rs397515166
|
|
NM_000548.5(TSC2):c.712C>G (p.Leu238Val)
|
|
|
NM_000548.5(TSC2):c.712C>T (p.Leu238=)
|
rs1287428578
|
|
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)
|
rs778544723
|
|
NM_000548.5(TSC2):c.717C>A (p.Phe239Leu)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.717C>T (p.Phe239=)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.718A>C (p.Ile240Leu)
|
|
|
NM_000548.5(TSC2):c.718A>G (p.Ile240Val)
|
rs796053482
|
|
NM_000548.5(TSC2):c.718A>T (p.Ile240Phe)
|
rs796053482
|
|
NM_000548.5(TSC2):c.718_720del (p.Ile240del)
|
rs2151079854
|
|
NM_000548.5(TSC2):c.71C>A (p.Pro24Gln)
|
rs868467487
|
|
NM_000548.5(TSC2):c.71C>T (p.Pro24Leu)
|
rs868467487
|
|
NM_000548.5(TSC2):c.721G>C (p.Val241Leu)
|
rs200943828
|
|
NM_000548.5(TSC2):c.722T>C (p.Val241Ala)
|
rs888878542
|
|
NM_000548.5(TSC2):c.723T>G (p.Val241=)
|
|
|
NM_000548.5(TSC2):c.724dup (p.Thr242fs)
|
rs397515256
|
|
NM_000548.5(TSC2):c.725C>A (p.Thr242Asn)
|
rs1007232729
|
|
NM_000548.5(TSC2):c.725C>T (p.Thr242Ile)
|
rs1007232729
|
|
NM_000548.5(TSC2):c.726C>T (p.Thr242=)
|
rs570051626
|
|
NM_000548.5(TSC2):c.727C>G (p.Leu243Val)
|
rs796053502
|
|
NM_000548.5(TSC2):c.728T>C (p.Leu243Pro)
|
|
|
NM_000548.5(TSC2):c.729C>T (p.Leu243=)
|
rs45473698
|
|
NM_000548.5(TSC2):c.72G>C (p.Pro24=)
|
rs754121475
|
|
NM_000548.5(TSC2):c.733C>G (p.Arg245Gly)
|
rs375574283
|
|
NM_000548.5(TSC2):c.734G>T (p.Arg245Leu)
|
|
|
NM_000548.5(TSC2):c.741C>T (p.Ile247=)
|
rs2151080723
|
|
NM_000548.5(TSC2):c.743A>C (p.Asn248Thr)
|
|
|
NM_000548.5(TSC2):c.743A>T (p.Asn248Ile)
|
rs762104739
|
|
NM_000548.5(TSC2):c.745G>C (p.Val249Leu)
|
rs750649974
|
|
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)
|
rs1596278719
|
|
NM_000548.5(TSC2):c.747C>T (p.Val249=)
|
|
|
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu)
|
rs2085894886
|
|
NM_000548.5(TSC2):c.749A>G (p.Lys250Arg)
|
rs2151081016
|
|
NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)
|
rs759867905
|
|
NM_000548.5(TSC2):c.74G>T (p.Arg25Met)
|
|
|
NM_000548.5(TSC2):c.750G>A (p.Lys250=)
|
|
|
NM_000548.5(TSC2):c.751G>A (p.Glu251Lys)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.751G>C (p.Glu251Gln)
|
|
|
NM_000548.5(TSC2):c.754C>A (p.Leu252Ile)
|
rs766770734
|
|
NM_000548.5(TSC2):c.756C>T (p.Leu252=)
|
rs1026303888
|
|
NM_000548.5(TSC2):c.756_757dup (p.Cys253fs)
|
|
|
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe)
|
rs766547457
|
|
NM_000548.5(TSC2):c.75G>A (p.Arg25=)
|
rs2150971828
|
|
NM_000548.5(TSC2):c.762G>A (p.Glu254=)
|
rs2151081395
|
|
NM_000548.5(TSC2):c.764C>A (p.Pro255His)
|
rs2085896951
|
|
NM_000548.5(TSC2):c.765_766dup (p.Cys256fs)
|
rs1567409292
|
|
NM_000548.5(TSC2):c.767G>A (p.Cys256Tyr)
|
|
|
NM_000548.5(TSC2):c.767G>T (p.Cys256Phe)
|
rs1567409304
|
|
NM_000548.5(TSC2):c.768C>G (p.Cys256Trp)
|
rs45517127
|
|
NM_000548.5(TSC2):c.769del (p.Trp257fs)
|
rs2085898708
|
|
NM_000548.5(TSC2):c.76C>T (p.Pro26Ser)
|
|
|
NM_000548.5(TSC2):c.770G>A (p.Trp257Ter)
|
|
|
NM_000548.5(TSC2):c.772A>C (p.Lys258Gln)
|
|
|
NM_000548.5(TSC2):c.774+12G>C
|
|
|
NM_000548.5(TSC2):c.774+13A>G
|
|
|
NM_000548.5(TSC2):c.774+15A>C
|
|
|
NM_000548.5(TSC2):c.774+18G>A
|
|
|
NM_000548.5(TSC2):c.774+19C>T
|
|
|
NM_000548.5(TSC2):c.774+1G>A
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+1G>T
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+20T>C
|
|
|
NM_000548.5(TSC2):c.774+3G>A
|
|
|
NM_000548.5(TSC2):c.774+3G>C
|
rs2151081990
|
|
NM_000548.5(TSC2):c.774+4G>A
|
rs1244859914
|
|
NM_000548.5(TSC2):c.774+4G>C
|
rs1244859914
|
|
NM_000548.5(TSC2):c.774+4G>T
|
|
|
NM_000548.5(TSC2):c.774+6G>C
|
|
|
NM_000548.5(TSC2):c.774+6G>T
|
|
|
NM_000548.5(TSC2):c.775-10T>G
|
rs1555499018
|
|
NM_000548.5(TSC2):c.775-11G>A
|
|
|
NM_000548.5(TSC2):c.775-11G>T
|
|
|
NM_000548.5(TSC2):c.775-14_775-13del
|
rs1555499015
|
|
NM_000548.5(TSC2):c.775-16G>C
|
rs1359566041
|
|
NM_000548.5(TSC2):c.775-18A>G
|
|
|
NM_000548.5(TSC2):c.775-1G>A
|
rs45454192
|
|
NM_000548.5(TSC2):c.775-1G>C
|
rs45454192
|
|
NM_000548.5(TSC2):c.775-2A>G
|
|
|
NM_000548.5(TSC2):c.775-34_775-9del
|
|
|
NM_000548.5(TSC2):c.775-3C>A
|
rs397514909
|
|
NM_000548.5(TSC2):c.775-3C>T
|
|
|
NM_000548.5(TSC2):c.775-5C>G
|
rs181827303
|
|
NM_000548.5(TSC2):c.775-6T>C
|
|
|
NM_000548.5(TSC2):c.775-9G>A
|
rs1596280442
|
|
NM_000548.5(TSC2):c.775-9G>C
|
rs1596280442
|
|
NM_000548.5(TSC2):c.778A>T (p.Met260Leu)
|
rs2085953921
|
|
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)
|
rs1555494636
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.782G>T (p.Arg261Leu)
|
rs45502703
|
|
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)
|
rs2085955298
|
|
NM_000548.5(TSC2):c.784_794dup (p.His267fs)
|
|
|
NM_000548.5(TSC2):c.785A>T (p.Asn262Ile)
|
rs2085955900
|
|
NM_000548.5(TSC2):c.786C>A (p.Asn262Lys)
|
rs1485087555
|
|
NM_000548.5(TSC2):c.787C>T (p.Leu263Phe)
|
rs2151086992
|
|
NM_000548.5(TSC2):c.788T>C (p.Leu263Pro)
|
|
|
NM_000548.5(TSC2):c.790C>T (p.Leu264Phe)
|
rs2085956949
|
|
NM_000548.5(TSC2):c.793G>A (p.Gly265Ser)
|
rs1567410457
|
|
NM_000548.5(TSC2):c.794G>T (p.Gly265Val)
|
rs1188591008
|
|
NM_000548.5(TSC2):c.796A>G (p.Thr266Ala)
|
rs1433069377
|
|
NM_000548.5(TSC2):c.797C>T (p.Thr266Ile)
|
|
|
NM_000548.5(TSC2):c.798C>A (p.Thr266=)
|
rs1172338384
|
|
NM_000548.5(TSC2):c.798C>T (p.Thr266=)
|
|
|
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)
|
rs2084677815
|
|
NM_000548.5(TSC2):c.801C>A (p.His267Gln)
|
|
|
NM_000548.5(TSC2):c.801C>T (p.His267=)
|
|
|
NM_000548.5(TSC2):c.802C>G (p.Leu268Val)
|
rs1396943042
|
|
NM_000548.5(TSC2):c.802C>T (p.Leu268=)
|
rs1396943042
|
|
NM_000548.5(TSC2):c.803T>G (p.Leu268Arg)
|
rs2085959207
|
|
NM_000548.5(TSC2):c.804G>A (p.Leu268=)
|
rs2151087245
|
|
NM_000548.5(TSC2):c.805G>A (p.Gly269Ser)
|
rs1596280654
|
|
NM_000548.5(TSC2):c.806G>C (p.Gly269Ala)
|
|
|
NM_000548.5(TSC2):c.807C>A (p.Gly269=)
|
rs1297815371
|
|
NM_000548.5(TSC2):c.808C>T (p.His270Tyr)
|
|
|
NM_000548.5(TSC2):c.810C>T (p.His270=)
|
rs1596280678
|
|
NM_000548.5(TSC2):c.810_811dup (p.Ser271fs)
|
rs2151087352
|
|
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)
|
rs1555499071
|
|
NM_000548.5(TSC2):c.813C>A (p.Ser271Arg)
|
|
|
NM_000548.5(TSC2):c.813C>G (p.Ser271Arg)
|
rs752676212
|
|
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)
|
rs373818076
|
|
NM_000548.5(TSC2):c.815C>A (p.Ala272Asp)
|
|
|
NM_000548.5(TSC2):c.816C>G (p.Ala272=)
|
rs917246659
|
|
NM_000548.5(TSC2):c.816C>T (p.Ala272=)
|
rs917246659
|
|
NM_000548.5(TSC2):c.818T>C (p.Ile273Thr)
|
|
|
NM_000548.5(TSC2):c.819C>A (p.Ile273=)
|
|
|
NM_000548.5(TSC2):c.820T>G (p.Tyr274Asp)
|
rs367642937
|
|
NM_000548.5(TSC2):c.824A>G (p.Asn275Ser)
|
|
|
NM_000548.5(TSC2):c.825C>T (p.Asn275=)
|
|
|
NM_000548.5(TSC2):c.826A>G (p.Met276Val)
|
rs1238874343
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.828G>T (p.Met276Ile)
|
rs1318274503
|
|
NM_000548.5(TSC2):c.82C>A (p.Pro28Thr)
|
rs200480606
|
|
NM_000548.5(TSC2):c.82C>G (p.Pro28Ala)
|
|
|
NM_000548.5(TSC2):c.82C>T (p.Pro28Ser)
|
|
|
NM_000548.5(TSC2):c.830G>T (p.Cys277Phe)
|
rs1216101095
|
|
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp)
|
rs1057523424
|
|
NM_000548.5(TSC2):c.832C>T (p.His278Tyr)
|
rs2085965079
|
|
NM_000548.5(TSC2):c.832dup (p.His278fs)
|
rs137854020
|
|
NM_000548.5(TSC2):c.833A>G (p.His278Arg)
|
rs397515266
|
|
NM_000548.5(TSC2):c.834C>T (p.His278=)
|
rs1596280873
|
|
NM_000548.5(TSC2):c.836T>A (p.Leu279His)
|
|
|
NM_000548.5(TSC2):c.836T>C (p.Leu279Pro)
|
|
|
NM_000548.5(TSC2):c.838A>G (p.Met280Val)
|
rs1596280903
|
|
NM_000548.5(TSC2):c.839T>G (p.Met280Arg)
|
|
|
NM_000548.5(TSC2):c.843G>A (p.Glu281=)
|
|
|
NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)
|
rs2151088094
|
|
NM_000548.5(TSC2):c.844G>A (p.Asp282Asn)
|
|
|
NM_000548.5(TSC2):c.844G>T (p.Asp282Tyr)
|
rs1192271452
|
|
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)
|
rs587778734
|
|
NM_000548.5(TSC2):c.846C>G (p.Asp282Glu)
|
|
|
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)
|
rs1596280931
|
|
NM_000548.5(TSC2):c.848+12G>T
|
|
|
NM_000548.5(TSC2):c.848+13G>A
|
rs1402619251
|
|
NM_000548.5(TSC2):c.848+14G>T
|
|
|
NM_000548.5(TSC2):c.848+15T>G
|
|
|
NM_000548.5(TSC2):c.848+16G>C
|
|
|
NM_000548.5(TSC2):c.848+16_848+39dup
|
|
|
NM_000548.5(TSC2):c.848+18_848+37dup
|
|
|
NM_000548.5(TSC2):c.848+19G>T
|
|
|
NM_000548.5(TSC2):c.848+1G>A
|
rs45466296
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.848+5G>A
|
rs1370989559
|
|
NM_000548.5(TSC2):c.848+5G>T
|
rs1370989559
|
|
NM_000548.5(TSC2):c.848+6T>C
|
|
|
NM_000548.5(TSC2):c.848+8_848+9del
|
rs2151088282
|
|
NM_000548.5(TSC2):c.848+9G>A
|
rs1158054515
|
|
NM_000548.5(TSC2):c.849-10A>G
|
rs1596288175
|
|
NM_000548.5(TSC2):c.849-10A>T
|
rs1596288175
|
|
NM_000548.5(TSC2):c.849-11A>G
|
|
|
NM_000548.5(TSC2):c.849-12G>A
|
rs2151104844
|
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
|
NM_000548.5(TSC2):c.849-17C>T
|
rs45517133
|
|
NM_000548.5(TSC2):c.849-18T>C
|
|
|
NM_000548.5(TSC2):c.849-19C>T
|
rs2151104623
|
|
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>C
|
|
|
NM_000548.5(TSC2):c.849-3T>C
|
rs45489591
|
|
NM_000548.5(TSC2):c.849-4T>G
|
|
|
NM_000548.5(TSC2):c.849-4_849-3del
|
rs1295449344
|
|
NM_000548.5(TSC2):c.849-7C>T
|
|
|
NM_000548.5(TSC2):c.849-7del
|
rs1555499625
|
|
NM_000548.5(TSC2):c.849A>C (p.Arg283Ser)
|
rs1596288325
|
|
NM_000548.5(TSC2):c.851C>A (p.Ala284Asp)
|
|
|
NM_000548.5(TSC2):c.851C>G (p.Ala284Gly)
|
rs1195702502
|
|
NM_000548.5(TSC2):c.852C>G (p.Ala284=)
|
|
|
NM_000548.5(TSC2):c.852C>T (p.Ala284=)
|
rs1555499631
|
|
NM_000548.5(TSC2):c.852del (p.Tyr285fs)
|
|
|
NM_000548.5(TSC2):c.853T>C (p.Tyr285His)
|
|
|
NM_000548.5(TSC2):c.853T>G (p.Tyr285Asp)
|
|
|
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)
|
rs794726983
|
|
NM_000548.5(TSC2):c.856A>C (p.Met286Leu)
|
|
|
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)
|
rs397515300
|
|
NM_000548.5(TSC2):c.85A>G (p.Arg29Gly)
|
|
|
NM_000548.5(TSC2):c.861G>A (p.Glu287=)
|
rs192567788
|
|
NM_000548.5(TSC2):c.862G>A (p.Asp288Asn)
|
rs1555499648
|
|
NM_000548.5(TSC2):c.862G>T (p.Asp288Tyr)
|
|
|
NM_000548.5(TSC2):c.865G>C (p.Ala289Pro)
|
|
|
NM_000548.5(TSC2):c.866C>A (p.Ala289Glu)
|
|
|
NM_000548.5(TSC2):c.867G>C (p.Ala289=)
|
rs375163125
|
|
NM_000548.5(TSC2):c.867G>T (p.Ala289=)
|
rs375163125
|
|
NM_000548.5(TSC2):c.869C>T (p.Pro290Leu)
|
rs2151106083
|
|
NM_000548.5(TSC2):c.86G>A (p.Arg29Lys)
|
rs1567380695
|
|
NM_000548.5(TSC2):c.86G>C (p.Arg29Thr)
|
rs1567380695
|
|
NM_000548.5(TSC2):c.870C>T (p.Pro290=)
|
rs1166082765
|
|
NM_000548.5(TSC2):c.871C>G (p.Leu291Val)
|
rs45517137
|
|
NM_000548.5(TSC2):c.873G>A (p.Leu291=)
|
|
|
NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs)
|
|
|
NM_000548.5(TSC2):c.876G>T (p.Leu292=)
|
|
|
NM_000548.5(TSC2):c.878G>A (p.Arg293Lys)
|
rs2151106417
|
|
NM_000548.5(TSC2):c.87G>A (p.Arg29=)
|
rs1010489256
|
|
NM_000548.5(TSC2):c.87G>T (p.Arg29Ser)
|
rs1010489256
|
|
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)
|
rs45517139
|
|
NM_000548.5(TSC2):c.883G>C (p.Ala295Pro)
|
|
|
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)
|
rs1596288578
|
|
NM_000548.5(TSC2):c.884C>T (p.Ala295Val)
|
rs1596288578
|
|
NM_000548.5(TSC2):c.886G>T (p.Val296Leu)
|
rs747237113
|
|
NM_000548.5(TSC2):c.894del (p.Phe298fs)
|
|
|
NM_000548.5(TSC2):c.894dup (p.Val299fs)
|
rs137854024
|
|
NM_000548.5(TSC2):c.897G>A (p.Val299=)
|
rs1382139812
|
|
NM_000548.5(TSC2):c.898G>T (p.Gly300Cys)
|
|
|
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)
|
rs1425163522
|
|
NM_000548.5(TSC2):c.901A>C (p.Met301Leu)
|
rs1356498946
|
|
NM_000548.5(TSC2):c.901A>G (p.Met301Val)
|
rs1356498946
|
|
NM_000548.5(TSC2):c.902T>C (p.Met301Thr)
|
rs1060500949
|
|
NM_000548.5(TSC2):c.905C>G (p.Ala302Gly)
|
rs2151107275
|
|
NM_000548.5(TSC2):c.906T>C (p.Ala302=)
|
rs2151107335
|
|
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>G (p.Leu303Val)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.909C>T (p.Leu303=)
|
rs1433197017
|
|
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.913G>A (p.Gly305Arg)
|
rs1567415674
|
|
NM_000548.5(TSC2):c.914G>T (p.Gly305Val)
|
rs770137362
|
|
NM_000548.5(TSC2):c.914del (p.Gly305fs)
|
rs2086233936
|
|
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
|
|
|
NM_000548.5(TSC2):c.916del (p.Ala306fs)
|
|
|
NM_000548.5(TSC2):c.917C>T (p.Ala306Val)
|
rs2086235107
|
|
NM_000548.5(TSC2):c.918C>A (p.Ala306=)
|
rs2151107825
|
|
NM_000548.5(TSC2):c.918C>T (p.Ala306=)
|
rs2151107825
|
|
NM_000548.5(TSC2):c.919C>T (p.His307Tyr)
|
rs1279645051
|
|
NM_000548.5(TSC2):c.921C>A (p.His307Gln)
|
|
|
NM_000548.5(TSC2):c.921C>T (p.His307=)
|
rs878854121
|
|
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)
|
rs201144475
|
|
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)
|
rs1258567486
|
|
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)
|
rs137853986
|
|
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)
|
rs878854122
|
|
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe)
|
rs878854122
|
|
NM_000548.5(TSC2):c.92C>T (p.Ala31Val)
|
rs1567380741
|
|
NM_000548.5(TSC2):c.931T>A (p.Ser311Thr)
|
rs775590764
|
|
NM_000548.5(TSC2):c.932C>T (p.Ser311Phe)
|
rs1475672414
|
|
NM_000548.5(TSC2):c.933T>G (p.Ser311=)
|
rs1596289005
|
|
NM_000548.5(TSC2):c.934C>G (p.Leu312Val)
|
rs755368431
|
|
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe)
|
rs755368431
|
|
NM_000548.5(TSC2):c.935_936del (p.Leu312fs)
|
rs1596288988
|
|
NM_000548.5(TSC2):c.936C>G (p.Leu312=)
|
rs2086239603
|
|
NM_000548.5(TSC2):c.936C>T (p.Leu312=)
|
rs2086239603
|
|
NM_000548.5(TSC2):c.937A>T (p.Arg313Trp)
|
rs2086239979
|
|
NM_000548.5(TSC2):c.938G>A (p.Arg313Lys)
|
|
|
NM_000548.5(TSC2):c.941A>G (p.Asn314Ser)
|
rs878854123
|
|
NM_000548.5(TSC2):c.942C>G (p.Asn314Lys)
|
|
|
NM_000548.5(TSC2):c.943T>G (p.Ser315Ala)
|
|
|
NM_000548.5(TSC2):c.945G>T (p.Ser315=)
|
rs763948768
|
|
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)
|
rs751490043
|
|
NM_000548.5(TSC2):c.948G>T (p.Pro316=)
|
|
|
NM_000548.5(TSC2):c.94G>A (p.Glu32Lys)
|
rs2084679567
|
|
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)
|
rs1596289105
|
|
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)
|
rs1060500970
|
|
NM_000548.5(TSC2):c.954T>C (p.Ser318=)
|
|
|
NM_000548.5(TSC2):c.955G>A (p.Val319Met)
|
rs1432086775
|
|
NM_000548.5(TSC2):c.957G>T (p.Val319=)
|
rs2086246062
|
|
NM_000548.5(TSC2):c.960G>A (p.Leu320=)
|
rs1131825
|
|
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe)
|
rs1131825
|
|
NM_000548.5(TSC2):c.961C>A (p.Pro321Thr)
|
|
|
NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)
|
rs2151109772
|
|
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)
|
rs1345813917
|
|
NM_000548.5(TSC2):c.966A>C (p.Ser322=)
|
rs1236668149
|
|
NM_000548.5(TSC2):c.969T>G (p.Phe323Leu)
|
rs2151109944
|
|
NM_000548.5(TSC2):c.96G>A (p.Glu32=)
|
rs1567380772
|
|
NM_000548.5(TSC2):c.96_106del (p.Glu32fs)
|
|
|
NM_000548.5(TSC2):c.970T>C (p.Tyr324His)
|
|
|
NM_000548.5(TSC2):c.970T>G (p.Tyr324Asp)
|
rs2086247823
|
|
NM_000548.5(TSC2):c.970_973dup (p.Gln325fs)
|
|
|
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)
|
rs45517143
|
|
NM_000548.5(TSC2):c.972C>T (p.Tyr324=)
|
rs45517143
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
NM_000548.5(TSC2):c.974A>C (p.Gln325Pro)
|
rs2086248990
|
|
NM_000548.5(TSC2):c.974_975del (p.Gln325fs)
|
|
|
NM_000548.5(TSC2):c.975+12T>C
|
|
|
NM_000548.5(TSC2):c.975+13C>G
|
rs200564575
|
|
NM_000548.5(TSC2):c.975+14T>C
|
|
|
NM_000548.5(TSC2):c.975+15G>A
|
rs753334357
|
|
NM_000548.5(TSC2):c.975+15G>C
|
|
|
NM_000548.5(TSC2):c.975+15G>T
|
rs753334357
|
|
NM_000548.5(TSC2):c.975+16T>C
|
rs769084318
|
|
NM_000548.5(TSC2):c.975+19G>A
|
|
|
NM_000548.5(TSC2):c.975+19G>T
|
rs909473730
|
|
NM_000548.5(TSC2):c.975+1G>A
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+1G>T
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+20C>T
|
|
|
NM_000548.5(TSC2):c.975+2T>C
|
rs2151110209
|
|
NM_000548.5(TSC2):c.975+3A>C
|
rs1131692179
|
|
NM_000548.5(TSC2):c.975+3A>G
|
|
|
NM_000548.5(TSC2):c.975+45C>G
|
rs373276095
|
|
NM_000548.5(TSC2):c.975+5G>A
|
|
|
NM_000548.5(TSC2):c.975+5G>C
|
rs45458600
|
|
NM_000548.5(TSC2):c.975+6G>A
|
|
|
NM_000548.5(TSC2):c.975+7C>A
|
rs372463702
|
|
NM_000548.5(TSC2):c.975+8G>T
|
rs137853984
|
|
NM_000548.5(TSC2):c.975G>C (p.Gln325His)
|
rs1567416259
|
|
NM_000548.5(TSC2):c.976-10C>G
|
rs765990217
|
|
NM_000548.5(TSC2):c.976-13G>A
|
|
|
NM_000548.5(TSC2):c.976-14G>C
|
rs397515186
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000548.5(TSC2):c.976-15G>C
|
|
|
NM_000548.5(TSC2):c.976-16C>G
|
|
|
NM_000548.5(TSC2):c.976-17C>A
|
rs2151133787
|
|
NM_000548.5(TSC2):c.976-17C>T
|
|
|
NM_000548.5(TSC2):c.976-18G>T
|
|
|
NM_000548.5(TSC2):c.976-19G>A
|
|
|
NM_000548.5(TSC2):c.976-1G>A
|
rs45451199
|
|
NM_000548.5(TSC2):c.976-207_1191del
|
|
|
NM_000548.5(TSC2):c.976-20T>C
|
|
|
NM_000548.5(TSC2):c.976-22_976-6del
|
rs2151133589
|
|
NM_000548.5(TSC2):c.976-3del
|
rs2151134253
|
|
NM_000548.5(TSC2):c.976-5T>A
|
rs2086516322
|
|
NM_000548.5(TSC2):c.976-5T>C
|
rs2086516322
|
|
NM_000548.5(TSC2):c.976-6T>A
|
rs2086516048
|
|
NM_000548.5(TSC2):c.976-8T>C
|
rs2151134100
|
|
NM_000548.5(TSC2):c.976-9G>T
|
|
|
NM_000548.5(TSC2):c.979A>G (p.Met327Val)
|
rs754596133
|
|
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)
|
rs397515176
|
|
NM_000548.5(TSC2):c.979dup (p.Met327fs)
|
rs2151134473
|
|
NM_000548.5(TSC2):c.983C>T (p.Ala328Val)
|
|
|
NM_000548.5(TSC2):c.984A>C (p.Ala328=)
|
|
|
NM_000548.5(TSC2):c.985T>A (p.Cys329Ser)
|
rs2086518199
|
|
NM_000548.5(TSC2):c.986G>A (p.Cys329Tyr)
|
rs2086518389
|
|
NM_000548.5(TSC2):c.987T>A (p.Cys329Ter)
|
rs2151134671
|
|
NM_000548.5(TSC2):c.988C>T (p.Pro330Ser)
|
rs2151134701
|
|
NM_000548.5(TSC2):c.989C>G (p.Pro330Arg)
|
|
|
NM_000548.5(TSC2):c.989_990delinsGA (p.Pro330Arg)
|
rs2086518574
|
|
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)
|
rs1352220583
|
|
NM_000548.5(TSC2):c.990G>C (p.Pro330=)
|
|
|
NM_000548.5(TSC2):c.990_991delinsAT (p.Asn331Tyr)
|
rs2086518981
|
|
NM_000548.5(TSC2):c.991A>G (p.Asn331Asp)
|
rs1060500974
|
|
NM_000548.5(TSC2):c.993del (p.Asn331fs)
|
rs1596298137
|
|
NM_000548.5(TSC2):c.994G>C (p.Glu332Gln)
|
rs911600402
|
|
NM_000548.5(TSC2):c.994G>T (p.Glu332Ter)
|
|
|
NM_000548.5(TSC2):c.996G>A (p.Glu332=)
|
rs757788971
|
|
NM_000548.5(TSC2):c.996G>C (p.Glu332Asp)
|
rs757788971
|
|
NM_000548.5(TSC2):c.997G>A (p.Val333Met)
|
rs1336741146
|
|
NM_000548.5(TSC2):c.998T>C (p.Val333Ala)
|
rs781423177
|
|
NM_000548.5(TSC2):c.999G>A (p.Val333=)
|
rs746177025
|
|
NM_000548.5(TSC2):c.999G>T (p.Val333=)
|
rs746177025
|
|
NM_000548.5(TSC2):c.9A>G (p.Lys3=)
|
rs2150969793
|
|
NM_000548.5(TSC2):c.[4570-18_4570-6del;4570-5CA[3]]
|
|
|
NM_000548.5:c.(1716+1_1717-1)_(2545+1_2546-1)del
|
|
|