NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
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.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.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
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.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.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
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.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.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
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.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.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.975+13C>T
|
rs200564575
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_000548.5(TSC2):c.1821G>A (p.Ala607=)
|
rs149543046
|
0.00050
|
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
|
rs137854214
|
0.00048
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000548.5(TSC2):c.2073C>T (p.Arg691=)
|
rs45512398
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_000548.5(TSC2):c.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.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.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00028
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_000548.5(TSC2):c.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.4929C>T (p.Asn1643=)
|
rs45517381
|
0.00023
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr)
|
rs146239734
|
0.00022
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)
|
rs373968155
|
0.00021
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00019
|
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)
|
rs147284943
|
0.00019
|
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)
|
rs144965811
|
0.00019
|
NM_000548.5(TSC2):c.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.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.2622G>A (p.Pro874=)
|
rs141486629
|
0.00016
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=)
|
rs141252704
|
0.00016
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00016
|
NM_000548.5(TSC2):c.552C>T (p.Val184=)
|
rs199991910
|
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.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.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.4047G>A (p.Ala1349=)
|
rs45468491
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
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.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00008
|
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)
|
rs367963898
|
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.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.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.1731C>T (p.Thr577=)
|
rs144122318
|
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.5040C>T (p.Cys1680=)
|
rs139591455
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=)
|
rs141449031
|
0.00006
|
NM_000548.5(TSC2):c.5319T>C (p.His1773=)
|
rs536518032
|
0.00006
|
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
|
rs200140994
|
0.00006
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
NM_000548.5(TSC2):c.618C>T (p.Cys206=)
|
rs45498496
|
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.1820C>T (p.Ala607Val)
|
rs397515296
|
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.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.4849+12C>T
|
rs45517373
|
0.00005
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
0.00005
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
NM_000548.5(TSC2):c.669C>T (p.Asp223=)
|
rs35501344
|
0.00005
|
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)
|
rs587778728
|
0.00004
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00004
|
NM_000548.5(TSC2):c.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.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.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.2583C>T (p.Ala861=)
|
rs144924053
|
0.00004
|
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)
|
rs145258407
|
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.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.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.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.5161-4C>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.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.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.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.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.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.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val)
|
rs397514984
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.2511C>G (p.Ala837=)
|
rs145351030
|
0.00003
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
NM_000548.5(TSC2):c.258G>A (p.Ala86=)
|
rs397514912
|
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.297C>T (p.His99=)
|
rs752498350
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=)
|
rs45471697
|
0.00003
|
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=)
|
rs144997264
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.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.3342C>T (p.Ser1114=)
|
rs755871381
|
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.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.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.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)
|
rs1200837034
|
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.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.5362T>G (p.Tyr1788Asp)
|
rs904411432
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)
|
rs45517113
|
0.00003
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
NM_000548.5(TSC2):c.672C>T (p.Ala224=)
|
rs138897064
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.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.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.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
NM_000548.5(TSC2):c.1444-29G>T
|
rs778300365
|
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.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.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.215A>G (p.Lys72Arg)
|
rs1489623582
|
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.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.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.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.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.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.3815-3C>T
|
rs770054036
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)
|
rs766771526
|
0.00002
|
NM_000548.5(TSC2):c.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.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.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.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.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.4823A>G (p.Tyr1608Cys)
|
rs759795928
|
0.00002
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
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.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.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.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.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.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.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.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.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.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.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.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.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.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.1380C>T (p.Ala460=)
|
rs1060504113
|
0.00001
|
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met)
|
rs1188230416
|
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.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.1440T>C (p.Tyr480=)
|
rs45514794
|
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.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.1717-4del
|
rs1362347834
|
0.00001
|
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)
|
rs773304374
|
0.00001
|
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)
|
rs763863196
|
0.00001
|
NM_000548.5(TSC2):c.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.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.1800C>T (p.His600=)
|
rs762782913
|
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.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.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+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.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.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.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.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+5C>T
|
rs1164941572
|
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+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.2273C>G (p.Ser758Cys)
|
rs45517223
|
0.00001
|
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)
|
rs758234726
|
0.00001
|
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala)
|
rs780682938
|
0.00001
|
NM_000548.5(TSC2):c.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.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.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.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.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.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.252G>A (p.Ala84=)
|
rs1316543957
|
0.00001
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
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.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.2631C>T (p.Asn877=)
|
rs45517251
|
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.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.2742+3G>A
|
rs373935836
|
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.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.2837+4C>T
|
rs544409858
|
0.00001
|
NM_000548.5(TSC2):c.2844G>A (p.Arg948=)
|
rs1060504114
|
0.00001
|
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg)
|
rs397515191
|
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.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.2954A>G (p.His985Arg)
|
rs1330306605
|
0.00001
|
NM_000548.5(TSC2):c.2956G>A (p.Val986Met)
|
rs765489754
|
0.00001
|
NM_000548.5(TSC2):c.2961C>G (p.Val987=)
|
rs775637322
|
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.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.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.3119C>T (p.Ala1040Val)
|
rs2089807202
|
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.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.324C>T (p.Ile108=)
|
rs973500815
|
0.00001
|
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro)
|
rs767655384
|
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.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.3300G>A (p.Val1100=)
|
rs765436350
|
0.00001
|
NM_000548.5(TSC2):c.3303T>C (p.His1101=)
|
rs1233334406
|
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.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.3368G>A (p.Gly1123Glu)
|
rs1060500968
|
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.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+3G>A
|
rs1481437660
|
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.3461C>T (p.Thr1154Ile)
|
rs377137483
|
0.00001
|
NM_000548.5(TSC2):c.346T>C (p.Leu116=)
|
rs751923657
|
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.3487G>T (p.Ala1163Ser)
|
rs560522093
|
0.00001
|
NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu)
|
rs762650392
|
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.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.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.3690G>A (p.Glu1230=)
|
rs876659207
|
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.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.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)
|
rs1233661099
|
0.00001
|
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu)
|
rs1057523452
|
0.00001
|
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)
|
rs45517311
|
0.00001
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser)
|
rs1304251276
|
0.00001
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)
|
rs45517314
|
0.00001
|
NM_000548.5(TSC2):c.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+5C>T
|
rs45448994
|
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.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.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.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)
|
rs45517326
|
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.4191C>T (p.Ile1397=)
|
rs1170748581
|
0.00001
|
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)
|
rs1060500928
|
0.00001
|
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
|
rs778147657
|
0.00001
|
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu)
|
rs1384101814
|
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.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.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.4494-10C>A
|
rs753499012
|
0.00001
|
NM_000548.5(TSC2):c.4497C>T (p.Phe1499=)
|
rs372974007
|
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.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+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.4570-1G>A
|
rs777985056
|
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.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.4663-5C>T
|
rs1555515976
|
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.4707C>T (p.Tyr1569=)
|
rs397515277
|
0.00001
|
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=)
|
rs766665967
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.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.4782G>A (p.Leu1594=)
|
rs1367104092
|
0.00001
|
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=)
|
rs377474730
|
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.484G>A (p.Asp162Asn)
|
rs1257721773
|
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.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.4989+5G>A
|
rs1057522671
|
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.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.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.5069-11A>G
|
rs562381623
|
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.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.5155G>A (p.Ala1719Thr)
|
rs201206500
|
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.5254C>G (p.Gln1752Glu)
|
rs45517414
|
0.00001
|
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln)
|
rs749487441
|
0.00001
|
NM_000548.5(TSC2):c.5260-13C>T
|
rs1413775764
|
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.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.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.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.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.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.655C>T (p.Leu219=)
|
rs369046625
|
0.00001
|
NM_000548.5(TSC2):c.666G>A (p.Leu222=)
|
rs761351907
|
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.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.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.849-4T>C
|
rs752614339
|
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.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.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.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
|
NM_000548.3(TSC2):c.4572_4577dupACAGTC
|
|
|
NM_000548.5(TSC2):c.-4C>T
|
rs1596233597
|
|
NM_000548.5(TSC2):c.-5C>T
|
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1001_1009del (p.Val334_Tyr336del)
|
|
|
NM_000548.5(TSC2):c.1005C>T (p.Ser335=)
|
rs397514924
|
|
NM_000548.5(TSC2):c.1013T>G (p.Ile338Ser)
|
|
|
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.1017C>A (p.Val339=)
|
|
|
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.1033_1035delinsTTA (p.Leu345=)
|
|
|
NM_000548.5(TSC2):c.1036A>G (p.Ile346Val)
|
rs768760795
|
|
NM_000548.5(TSC2):c.1041G>A (p.Lys347=)
|
|
|
NM_000548.5(TSC2):c.1047T>C (p.Tyr349=)
|
rs1042628888
|
|
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)
|
rs1567423240
|
|
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.1057C>G (p.Leu353Val)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1058T>A (p.Leu353His)
|
|
|
NM_000548.5(TSC2):c.1059C>G (p.Leu353=)
|
rs796053472
|
|
NM_000548.5(TSC2):c.1061_1068dup (p.Ala357fs)
|
|
|
NM_000548.5(TSC2):c.1061_1119+22dup
|
|
|
NM_000548.5(TSC2):c.1062G>A (p.Gln354=)
|
rs771943476
|
|
NM_000548.5(TSC2):c.1063G>T (p.Val355Leu)
|
|
|
NM_000548.5(TSC2):c.1071G>T (p.Ala357=)
|
|
|
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.1078A>T (p.Ile360Phe)
|
|
|
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.1090A>G (p.Ile364Val)
|
rs2086536512
|
|
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.1097A>C (p.Glu366Ala)
|
|
|
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.1103T>C (p.Leu368Pro)
|
|
|
NM_000548.5(TSC2):c.1105C>A (p.Leu369Ile)
|
rs1195544121
|
|
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
|
rs1596298721
|
|
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg)
|
rs1555500581
|
|
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)
|
rs1060500919
|
|
NM_000548.5(TSC2):c.1119+3G>C
|
rs79668097
|
|
NM_000548.5(TSC2):c.1119+5G>C
|
rs2086542949
|
|
NM_000548.5(TSC2):c.1119+6_1119+28del
|
rs1358834036
|
|
NM_000548.5(TSC2):c.1120-1G>A
|
rs1596303216
|
|
NM_000548.5(TSC2):c.1120-4G>A
|
|
|
NM_000548.5(TSC2):c.1120-5T>C
|
rs896351318
|
|
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)
|
rs1440918649
|
|
NM_000548.5(TSC2):c.1126_1135del (p.Asp376fs)
|
|
|
NM_000548.5(TSC2):c.1128C>T (p.Asp376=)
|
rs1183791367
|
|
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)
|
rs201525586
|
|
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)
|
rs45517154
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)
|
rs1057519260
|
|
NM_000548.5(TSC2):c.1140C>T (p.Leu380=)
|
|
|
NM_000548.5(TSC2):c.1149C>T (p.Ile383=)
|
rs764246333
|
|
NM_000548.5(TSC2):c.1151T>C (p.Val384Ala)
|
|
|
NM_000548.5(TSC2):c.1155T>C (p.His385=)
|
rs2151154815
|
|
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.1164G>T (p.Leu388Phe)
|
|
|
NM_000548.5(TSC2):c.1165A>G (p.Thr389Ala)
|
|
|
NM_000548.5(TSC2):c.1166C>A (p.Thr389Asn)
|
|
|
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.1172T>A (p.Val391Glu)
|
|
|
NM_000548.5(TSC2):c.1174G>A (p.Glu392Lys)
|
|
|
NM_000548.5(TSC2):c.1179G>C (p.Glu393Asp)
|
|
|
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)
|
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.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.119T>C (p.Ile40Thr)
|
rs587781758
|
|
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>A (p.Gly402Glu)
|
rs777172185
|
|
NM_000548.5(TSC2):c.1206G>A (p.Gly402=)
|
rs558873383
|
|
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)
|
rs1057518321
|
|
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)
|
rs2086693907
|
|
NM_000548.5(TSC2):c.1218A>G (p.Arg406=)
|
|
|
NM_000548.5(TSC2):c.1219T>C (p.Tyr407His)
|
|
|
NM_000548.5(TSC2):c.121A>G (p.Thr41Ala)
|
rs1596234558
|
|
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
|
|
|
NM_000548.5(TSC2):c.1225G>C (p.Glu409Gln)
|
|
|
NM_000548.5(TSC2):c.1228C>T (p.Leu410=)
|
rs528727637
|
|
NM_000548.5(TSC2):c.122C>A (p.Thr41Asn)
|
|
|
NM_000548.5(TSC2):c.122C>T (p.Thr41Ile)
|
rs1385450866
|
|
NM_000548.5(TSC2):c.1234G>C (p.Glu412Gln)
|
rs1596303713
|
|
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.1242T>C (p.Cys414=)
|
|
|
NM_000548.5(TSC2):c.1246G>A (p.Asp416Asn)
|
rs45517157
|
|
NM_000548.5(TSC2):c.1248C>G (p.Asp416Glu)
|
rs1555501144
|
|
NM_000548.5(TSC2):c.1250A>C (p.Gln417Pro)
|
|
|
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)
|
rs1237876686
|
|
NM_000548.5(TSC2):c.1258G>C (p.Glu420Gln)
|
|
|
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.1260G>T (p.Glu420Asp)
|
rs876658585
|
|
NM_000548.5(TSC2):c.1262C>T (p.Ser421Phe)
|
rs2151163260
|
|
NM_000548.5(TSC2):c.1266C>T (p.Ser422=)
|
|
|
NM_000548.5(TSC2):c.1268T>C (p.Leu423Pro)
|
|
|
NM_000548.5(TSC2):c.1269C>G (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.1275C>G (p.Asn425Lys)
|
|
|
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.1278G>A (p.Leu426=)
|
rs749771063
|
|
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.1284C>G (p.Ser428=)
|
rs1325874616
|
|
NM_000548.5(TSC2):c.1285T>C (p.Tyr429His)
|
|
|
NM_000548.5(TSC2):c.1286A>G (p.Tyr429Cys)
|
rs774727624
|
|
NM_000548.5(TSC2):c.1289G>T (p.Arg430Ile)
|
|
|
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter)
|
rs1114167462
|
|
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.1304A>T (p.His435Leu)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1305C>G (p.His435Gln)
|
|
|
NM_000548.5(TSC2):c.1306C>A (p.Pro436Thr)
|
rs1489429320
|
|
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.1312A>C (p.Lys438Gln)
|
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.1319G>C (p.Gly440Ala)
|
rs2151164566
|
|
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.1329G>C (p.Gln443His)
|
rs1459924996
|
|
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys)
|
rs535984356
|
|
NM_000548.5(TSC2):c.1335G>T (p.Leu445=)
|
rs2151164864
|
|
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.1341G>T (p.Ala447=)
|
rs141609319
|
|
NM_000548.5(TSC2):c.134T>C (p.Leu45Pro)
|
rs1383831944
|
|
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.1356C>T (p.Phe452=)
|
|
|
NM_000548.5(TSC2):c.1358_1359delinsAA (p.Phe453Ter)
|
rs2151165414
|
|
NM_000548.5(TSC2):c.1359C>T (p.Phe453=)
|
rs2151165435
|
|
NM_000548.5(TSC2):c.1360A>C (p.Arg454=)
|
|
|
NM_000548.5(TSC2):c.1360A>T (p.Arg454Trp)
|
|
|
NM_000548.5(TSC2):c.1361+5G>A
|
rs2086781791
|
|
NM_000548.5(TSC2):c.1361+6G>A
|
rs1596305980
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362-4G>T
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362G>A (p.Arg454=)
|
|
|
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser)
|
rs374252944
|
|
NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn)
|
rs1567432782
|
|
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)
|
rs1278503244
|
|
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)
|
rs1567432890
|
|
NM_000548.5(TSC2):c.1377C>A (p.Gly459=)
|
rs45517170
|
|
NM_000548.5(TSC2):c.1378G>C (p.Ala460Pro)
|
|
|
NM_000548.5(TSC2):c.138+6_138+9del
|
rs2084688881
|
|
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)
|
rs796053486
|
|
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.139-4C>T
|
rs747561824
|
|
NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)
|
rs1033108057
|
|
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.1404G>T (p.Val468=)
|
rs778247396
|
|
NM_000548.5(TSC2):c.1405C>T (p.Leu469=)
|
rs1596307389
|
|
NM_000548.5(TSC2):c.1407G>C (p.Leu469=)
|
rs1458720483
|
|
NM_000548.5(TSC2):c.1410C>G (p.Ser470=)
|
|
|
NM_000548.5(TSC2):c.1410C>T (p.Ser470=)
|
rs2151172357
|
|
NM_000548.5(TSC2):c.1411T>G (p.Phe471Val)
|
|
|
NM_000548.5(TSC2):c.1412T>G (p.Phe471Cys)
|
|
|
NM_000548.5(TSC2):c.1416G>A (p.Val472=)
|
rs1596307406
|
|
NM_000548.5(TSC2):c.141A>G (p.Glu47=)
|
rs137854133
|
|
NM_000548.5(TSC2):c.1432C>G (p.Gln478Glu)
|
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.1435T>C (p.Phe479Leu)
|
rs2151173141
|
|
NM_000548.5(TSC2):c.1437_1438delinsG (p.Phe479fs)
|
|
|
NM_000548.5(TSC2):c.1439A>G (p.Tyr480Cys)
|
rs2086832697
|
|
NM_000548.5(TSC2):c.143T>A (p.Leu48Gln)
|
|
|
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.1446G>A (p.Glu482=)
|
rs2151188264
|
|
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.1453A>G (p.Ile485Val)
|
|
|
NM_000548.5(TSC2):c.1456A>T (p.Asn486Tyr)
|
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.1459T>A (p.Ser487Thr)
|
|
|
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.1473G>C (p.Ser491=)
|
|
|
NM_000548.5(TSC2):c.1476G>A (p.Gln492=)
|
rs1596311941
|
|
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.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.147C>T (p.Ser49=)
|
rs1555495692
|
|
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.1487T>A (p.Ile496Asn)
|
|
|
NM_000548.5(TSC2):c.1488C>T (p.Ile496=)
|
rs1596312013
|
|
NM_000548.5(TSC2):c.148A>C (p.Met50Leu)
|
|
|
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.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.1503C>T (p.Asp501=)
|
rs2087016490
|
|
NM_000548.5(TSC2):c.1506C>A (p.His502Gln)
|
|
|
NM_000548.5(TSC2):c.1507C>G (p.Gln503Glu)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1509G>C (p.Gln503His)
|
|
|
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.1518G>T (p.Lys506Asn)
|
|
|
NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro)
|
rs1413063599
|
|
NM_000548.5(TSC2):c.1522G>T (p.Ala508Ser)
|
|
|
NM_000548.5(TSC2):c.1523C>T (p.Ala508Val)
|
|
|
NM_000548.5(TSC2):c.1524C>T (p.Ala508=)
|
rs2151190194
|
|
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser)
|
rs2151190252
|
|
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.1534C>A (p.Leu512Met)
|
|
|
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.1542C>G (p.Asp514Glu)
|
rs2151190617
|
|
NM_000548.5(TSC2):c.1542C>T (p.Asp514=)
|
rs2151190617
|
|
NM_000548.5(TSC2):c.1545G>C (p.Leu515=)
|
|
|
NM_000548.5(TSC2):c.1547C>T (p.Ala516Val)
|
rs2151190764
|
|
NM_000548.5(TSC2):c.1549G>C (p.Glu517Gln)
|
|
|
NM_000548.5(TSC2):c.154T>G (p.Cys52Gly)
|
|
|
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.1559A>G (p.His520Arg)
|
rs1220672669
|
|
NM_000548.5(TSC2):c.1562C>T (p.Thr521Ile)
|
|
|
NM_000548.5(TSC2):c.1563A>G (p.Thr521=)
|
|
|
NM_000548.5(TSC2):c.1563A>T (p.Thr521=)
|
rs1464352573
|
|
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.1567C>T (p.His523Tyr)
|
rs1567438108
|
|
NM_000548.5(TSC2):c.1569C>T (p.His523=)
|
rs1420211177
|
|
NM_000548.5(TSC2):c.156T>G (p.Cys52Trp)
|
|
|
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.1593C>G (p.Ile531Met)
|
rs45517180
|
|
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+2T>C
|
rs45517183
|
|
NM_000548.5(TSC2):c.1599+3G>A
|
|
|
NM_000548.5(TSC2):c.1599+5G>A
|
rs397515100
|
|
NM_000548.5(TSC2):c.1600-2A>G
|
rs1114167466
|
|
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.1606G>T (p.Ala536Ser)
|
|
|
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val)
|
rs45517187
|
|
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.160C>T (p.Leu54Phe)
|
rs1394176023
|
|
NM_000548.5(TSC2):c.160_161delinsG (p.Leu54fs)
|
|
|
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>T (p.Leu539Phe)
|
rs2087226024
|
|
NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe)
|
rs1296271407
|
|
NM_000548.5(TSC2):c.161T>C (p.Leu54Pro)
|
|
|
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.1622C>A (p.Pro541Gln)
|
rs752953762
|
|
NM_000548.5(TSC2):c.1622C>T (p.Pro541Leu)
|
|
|
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1625C>A (p.Pro542His)
|
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.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.1635G>A (p.Leu545=)
|
rs755923499
|
|
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>G (p.Asp549Gly)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.1646A>T (p.Asp549Val)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.164A>T (p.Asn55Ile)
|
rs1555495709
|
|
NM_000548.5(TSC2):c.1650G>A (p.Val550=)
|
|
|
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.1655C>A (p.Ala552Glu)
|
rs1555503231
|
|
NM_000548.5(TSC2):c.1655C>T (p.Ala552Val)
|
rs1555503231
|
|
NM_000548.5(TSC2):c.165C>T (p.Asn55=)
|
rs1596245687
|
|
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)
|
rs763183991
|
|
NM_000548.5(TSC2):c.1668C>G (p.Ser556=)
|
rs764091433
|
|
NM_000548.5(TSC2):c.1669T>G (p.Leu557Val)
|
|
|
NM_000548.5(TSC2):c.1670T>C (p.Leu557Ser)
|
|
|
NM_000548.5(TSC2):c.1671G>A (p.Leu557=)
|
rs761975891
|
|
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.1679T>C (p.Val560Ala)
|
rs1596317536
|
|
NM_000548.5(TSC2):c.1683G>T (p.Lys561Asn)
|
|
|
NM_000548.5(TSC2):c.1688C>A (p.Ala563Asp)
|
|
|
NM_000548.5(TSC2):c.168T>A (p.Asn56Lys)
|
|
|
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.1695G>A (p.Leu565=)
|
|
|
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.1702C>T (p.Leu568=)
|
|
|
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val)
|
rs397515230
|
|
NM_000548.5(TSC2):c.1710C>A (p.Ile570=)
|
rs1470229525
|
|
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.1715A>C (p.Gln572Pro)
|
rs1596317664
|
|
NM_000548.5(TSC2):c.1716+1G>A
|
rs45517190
|
|
NM_000548.5(TSC2):c.1717-12CT[2]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1717-12CT[3]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1717-1G>C
|
|
|
NM_000548.5(TSC2):c.1717-3C>A
|
|
|
NM_000548.5(TSC2):c.1717A>G (p.Thr573Ala)
|
|
|
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.1724T>G (p.Leu575Arg)
|
|
|
NM_000548.5(TSC2):c.1725G>A (p.Leu575=)
|
rs747173035
|
|
NM_000548.5(TSC2):c.1726T>G (p.Tyr576Asp)
|
|
|
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.1730C>A (p.Thr577Asn)
|
|
|
NM_000548.5(TSC2):c.1731C>A (p.Thr577=)
|
|
|
NM_000548.5(TSC2):c.1731C>G (p.Thr577=)
|
rs144122318
|
|
NM_000548.5(TSC2):c.1732C>T (p.Leu578=)
|
rs1204972424
|
|
NM_000548.5(TSC2):c.1734G>T (p.Leu578=)
|
rs2151278251
|
|
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.1741_1839+182del
|
|
|
NM_000548.5(TSC2):c.1743C>G (p.Ser581Arg)
|
|
|
NM_000548.5(TSC2):c.1743C>T (p.Ser581=)
|
rs775195398
|
|
NM_000548.5(TSC2):c.1746C>T (p.His582=)
|
rs876658921
|
|
NM_000548.5(TSC2):c.1747G>T (p.Ala583Ser)
|
|
|
NM_000548.5(TSC2):c.1751C>G (p.Thr584Arg)
|
rs751147419
|
|
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly)
|
rs370324876
|
|
NM_000548.5(TSC2):c.1753_1754del (p.Arg585fs)
|
|
|
NM_000548.5(TSC2):c.1755T>C (p.Arg585=)
|
rs755484371
|
|
NM_000548.5(TSC2):c.1757T>C (p.Val586Ala)
|
rs2088127954
|
|
NM_000548.5(TSC2):c.1758G>A (p.Val586=)
|
rs1555505092
|
|
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His)
|
rs1555505094
|
|
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)
|
rs137854371
|
|
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>C (p.Glu588Asp)
|
rs2088130143
|
|
NM_000548.5(TSC2):c.1764_1765del (p.Glu588fs)
|
rs1555505103
|
|
NM_000548.5(TSC2):c.1766T>C (p.Met589Thr)
|
|
|
NM_000548.5(TSC2):c.1767G>A (p.Met589Ile)
|
|
|
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)
|
rs1161261925
|
|
NM_000548.5(TSC2):c.1770G>A (p.Leu590=)
|
|
|
NM_000548.5(TSC2):c.1770G>C (p.Leu590=)
|
rs778109774
|
|
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile)
|
rs984275273
|
|
NM_000548.5(TSC2):c.1772T>G (p.Val591Gly)
|
|
|
NM_000548.5(TSC2):c.1773C>G (p.Val591=)
|
rs1596336485
|
|
NM_000548.5(TSC2):c.1776C>T (p.Ser592=)
|
rs1555505122
|
|
NM_000548.5(TSC2):c.1779C>T (p.His593=)
|
rs771078126
|
|
NM_000548.5(TSC2):c.177G>A (p.Arg59=)
|
|
|
NM_000548.5(TSC2):c.177G>T (p.Arg59=)
|
|
|
NM_000548.5(TSC2):c.1783C>G (p.Gln595Glu)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro)
|
rs781087045
|
|
NM_000548.5(TSC2):c.178A>T (p.Met60Leu)
|
rs1053960780
|
|
NM_000548.5(TSC2):c.1790A>T (p.His597Leu)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1791del (p.Tyr598fs)
|
|
|
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1795A>G (p.Lys599Glu)
|
rs2088139595
|
|
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)
|
rs758239066
|
|
NM_000548.5(TSC2):c.1802G>C (p.Ser601Thr)
|
|
|
NM_000548.5(TSC2):c.1805A>C (p.Tyr602Ser)
|
|
|
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.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>C (p.Ile606Leu)
|
|
|
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser)
|
rs45517203
|
|
NM_000548.5(TSC2):c.1824C>T (p.Ser608=)
|
rs886038351
|
|
NM_000548.5(TSC2):c.1826G>T (p.Ser609Ile)
|
|
|
NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu)
|
|
|
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)
|
rs1285778253
|
|
NM_000548.5(TSC2):c.1829T>C (p.Ile610Thr)
|
|
|
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg)
|
rs2151282389
|
|
NM_000548.5(TSC2):c.1839+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.1839G>A (p.Gln613=)
|
rs1555505208
|
|
NM_000548.5(TSC2):c.1840-3C>T
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-5G>C
|
rs2151295776
|
|
NM_000548.5(TSC2):c.1840G>A (p.Ala614Thr)
|
rs397515199
|
|
NM_000548.5(TSC2):c.1845T>C (p.Phe615=)
|
rs1281870505
|
|
NM_000548.5(TSC2):c.1849T>C (p.Phe617Leu)
|
|
|
NM_000548.5(TSC2):c.1850T>A (p.Phe617Tyr)
|
|
|
NM_000548.5(TSC2):c.1850T>C (p.Phe617Ser)
|
|
|
NM_000548.5(TSC2):c.1852del (p.Leu618fs)
|
|
|
NM_000548.5(TSC2):c.1857G>A (p.Leu619=)
|
|
|
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.1867G>A (p.Ala623Thr)
|
|
|
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.186G>A (p.Gly62=)
|
|
|
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)
|
rs2151296839
|
|
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.1876C>T (p.Leu626=)
|
|
|
NM_000548.5(TSC2):c.1878G>A (p.Leu626=)
|
|
|
NM_000548.5(TSC2):c.1881C>A (p.His627Gln)
|
rs967430707
|
|
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)
|
rs45437797
|
|
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.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.1891C>T (p.Leu631=)
|
rs575892718
|
|
NM_000548.5(TSC2):c.1899C>T (p.Asn633=)
|
rs2088398113
|
|
NM_000548.5(TSC2):c.189G>C (p.Gln63His)
|
|
|
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn)
|
rs1060500932
|
|
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.1909G>A (p.Val637Ile)
|
|
|
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.1910_1931dup (p.Val645fs)
|
|
|
NM_000548.5(TSC2):c.1911C>A (p.Val637=)
|
rs543584836
|
|
NM_000548.5(TSC2):c.1911C>G (p.Val637=)
|
|
|
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.1914G>A (p.Val638=)
|
rs933464584
|
|
NM_000548.5(TSC2):c.1917G>A (p.Arg639=)
|
rs2151298410
|
|
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.1925C>A (p.Pro642His)
|
rs1408228669
|
|
NM_000548.5(TSC2):c.1926C>T (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1927T>A (p.Tyr643Asn)
|
|
|
NM_000548.5(TSC2):c.1929C>T (p.Tyr643=)
|
rs368710573
|
|
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.1940A>C (p.Asp647Ala)
|
rs2151299187
|
|
NM_000548.5(TSC2):c.1943A>G (p.Tyr648Cys)
|
|
|
NM_000548.5(TSC2):c.1945A>T (p.Met649Leu)
|
rs762331610
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
NM_000548.5(TSC2):c.1947-4G>A
|
rs201633455
|
|
NM_000548.5(TSC2):c.1947-4_1947-3delinsAT
|
|
|
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)
|
rs775845436
|
|
NM_000548.5(TSC2):c.1953A>C (p.Pro651=)
|
rs1051935578
|
|
NM_000548.5(TSC2):c.1958G>A (p.Arg653Lys)
|
rs876658202
|
|
NM_000548.5(TSC2):c.1959A>G (p.Arg653=)
|
|
|
NM_000548.5(TSC2):c.1960G>A (p.Gly654Ser)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1962C>T (p.Gly654=)
|
rs1596344030
|
|
NM_000548.5(TSC2):c.1965T>C (p.Ser655=)
|
|
|
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.1970A>G (p.Lys657Arg)
|
|
|
NM_000548.5(TSC2):c.1971G>A (p.Lys657=)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1972A>G (p.Lys658Glu)
|
rs1596344129
|
|
NM_000548.5(TSC2):c.1974G>T (p.Lys658Asn)
|
|
|
NM_000548.5(TSC2):c.1978A>C (p.Ser660Arg)
|
|
|
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1980C>T (p.Ser660=)
|
rs959705365
|
|
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)
|
rs137854103
|
|
NM_000548.5(TSC2):c.1988T>G (p.Leu663Arg)
|
rs1555506026
|
|
NM_000548.5(TSC2):c.1990T>G (p.Ser664Ala)
|
rs1555506028
|
|
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.1994C>T (p.Pro665Leu)
|
|
|
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.1A>G (p.Met1Val)
|
rs1055443730
|
|
NM_000548.5(TSC2):c.2000C>T (p.Thr667Ile)
|
rs781533796
|
|
NM_000548.5(TSC2):c.2001A>C (p.Thr667=)
|
|
|
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2003G>A (p.Gly668Glu)
|
rs1406015247
|
|
NM_000548.5(TSC2):c.2005C>T (p.Pro669Ser)
|
|
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
|
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
|
rs1338802781
|
|
NM_000548.5(TSC2):c.2008C>T (p.Pro670Ser)
|
|
|
NM_000548.5(TSC2):c.2010T>A (p.Pro670=)
|
|
|
NM_000548.5(TSC2):c.2010T>G (p.Pro670=)
|
|
|
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.2016G>A (p.Pro672=)
|
rs774517903
|
|
NM_000548.5(TSC2):c.2017G>C (p.Ala673Pro)
|
|
|
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.2020C>T (p.Pro674Ser)
|
rs760566516
|
|
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr)
|
rs764840082
|
|
NM_000548.5(TSC2):c.2023_2024delinsTT (p.Ala675Leu)
|
rs1555506090
|
|
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val)
|
|
|
NM_000548.5(TSC2):c.2025A>G (p.Ala675=)
|
rs766113544
|
|
NM_000548.5(TSC2):c.2033C>A (p.Ala678Asp)
|
rs1567464805
|
|
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.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.2042T>A (p.Leu681Gln)
|
rs878854079
|
|
NM_000548.5(TSC2):c.2042T>G (p.Leu681Arg)
|
|
|
NM_000548.5(TSC2):c.2048C>T (p.Ser683Phe)
|
rs919334398
|
|
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.204A>G (p.Ala68=)
|
|
|
NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)
|
|
|
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)
|
rs959165669
|
|
NM_000548.5(TSC2):c.2057A>G (p.Tyr686Cys)
|
|
|
NM_000548.5(TSC2):c.205A>G (p.Lys69Glu)
|
rs45517095
|
|
NM_000548.5(TSC2):c.2064G>C (p.Leu688=)
|
rs1202311439
|
|
NM_000548.5(TSC2):c.2065C>T (p.Leu689Phe)
|
rs1567465268
|
|
NM_000548.5(TSC2):c.2067C>T (p.Leu689=)
|
rs1060504107
|
|
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>T (p.Phe690=)
|
|
|
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.2076C>T (p.Val692=)
|
rs2151308324
|
|
NM_000548.5(TSC2):c.2077C>G (p.Leu693Val)
|
rs1167258871
|
|
NM_000548.5(TSC2):c.2082G>A (p.Leu694=)
|
rs45458592
|
|
NM_000548.5(TSC2):c.2084A>G (p.Gln695Arg)
|
rs1596345118
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe)
|
rs2151308956
|
|
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)
|
rs1596345229
|
|
NM_000548.5(TSC2):c.2097+4_2097+18del
|
rs1596345239
|
|
NM_000548.5(TSC2):c.2097+5G>A
|
rs977777731
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098-3C>T
|
rs876660489
|
|
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.209C>A (p.Thr70Asn)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.209C>T (p.Thr70Ile)
|
|
|
NM_000548.5(TSC2):c.2100G>A (p.Glu700=)
|
|
|
NM_000548.5(TSC2):c.2101T>C (p.Ser701Pro)
|
rs1596346996
|
|
NM_000548.5(TSC2):c.2102C>T (p.Ser701Phe)
|
rs1044030046
|
|
NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer)
|
rs1555506395
|
|
NM_000548.5(TSC2):c.2105A>T (p.Asp702Val)
|
rs898836681
|
|
NM_000548.5(TSC2):c.210C>G (p.Thr70=)
|
rs2084966494
|
|
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.2114T>C (p.Val705Ala)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2116C>A (p.Leu706Met)
|
|
|
NM_000548.5(TSC2):c.211A>G (p.Lys71Glu)
|
|
|
NM_000548.5(TSC2):c.2120A>G (p.Lys707Arg)
|
|
|
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.2130G>A (p.Leu710=)
|
rs747122485
|
|
NM_000548.5(TSC2):c.2132G>A (p.Gly711Asp)
|
|
|
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.2139G>A (p.Leu713=)
|
|
|
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.213_215del (p.Lys72del)
|
|
|
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.2156A>G (p.Tyr719Cys)
|
rs2088573975
|
|
NM_000548.5(TSC2):c.2161G>A (p.Val721Met)
|
rs768261185
|
|
NM_000548.5(TSC2):c.2164C>T (p.Leu722Phe)
|
rs1029969953
|
|
NM_000548.5(TSC2):c.2167A>C (p.Ile723Leu)
|
|
|
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>A (p.Ile723=)
|
|
|
NM_000548.5(TSC2):c.2169C>T (p.Ile723=)
|
|
|
NM_000548.5(TSC2):c.216A>G (p.Lys72=)
|
rs1201047547
|
|
NM_000548.5(TSC2):c.2171T>C (p.Phe724Ser)
|
|
|
NM_000548.5(TSC2):c.2172T>C (p.Phe724=)
|
rs2151318241
|
|
NM_000548.5(TSC2):c.2177C>G (p.Ser726Cys)
|
|
|
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.2180C>T (p.Pro727Leu)
|
rs767086409
|
|
NM_000548.5(TSC2):c.2180dup (p.Cys728fs)
|
|
|
NM_000548.5(TSC2):c.2184C>T (p.Cys728=)
|
rs1555506557
|
|
NM_000548.5(TSC2):c.2185A>T (p.Ser729Cys)
|
|
|
NM_000548.5(TSC2):c.2186G>T (p.Ser729Ile)
|
|
|
NM_000548.5(TSC2):c.2188G>A (p.Val730Met)
|
rs1555506559
|
|
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>T (p.Leu733=)
|
rs397515163
|
|
NM_000548.5(TSC2):c.2199G>C (p.Leu733=)
|
|
|
NM_000548.5(TSC2):c.2201G>A (p.Cys734Tyr)
|
|
|
NM_000548.5(TSC2):c.2205T>A (p.Ser735=)
|
rs758782629
|
|
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs)
|
rs137854247
|
|
NM_000548.5(TSC2):c.220G>T (p.Glu74Ter)
|
|
|
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>C (p.Cys738Ser)
|
|
|
NM_000548.5(TSC2):c.2216C>A (p.Ser739Tyr)
|
|
|
NM_000548.5(TSC2):c.2216C>T (p.Ser739Phe)
|
|
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
|
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)
|
rs2084968438
|
|
NM_000548.5(TSC2):c.2220+4C>A
|
|
|
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)
|
rs2151319848
|
|
NM_000548.5(TSC2):c.2221-10T>C
|
rs2151325875
|
|
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.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2222T>C (p.Leu741Pro)
|
rs2088681390
|
|
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>T (p.Gly743Val)
|
rs2151326174
|
|
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg)
|
rs774759789
|
|
NM_000548.5(TSC2):c.2232A>C (p.Pro744=)
|
rs1259596608
|
|
NM_000548.5(TSC2):c.2232A>G (p.Pro744=)
|
|
|
NM_000548.5(TSC2):c.2236A>G (p.Thr746Ala)
|
|
|
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.2240T>A (p.Leu747Gln)
|
|
|
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys)
|
rs1442440961
|
|
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp)
|
rs2151326551
|
|
NM_000548.5(TSC2):c.225+4G>C
|
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2255G>A (p.Gly752Asp)
|
rs876660553
|
|
NM_000548.5(TSC2):c.2256C>A (p.Gly752=)
|
rs778981034
|
|
NM_000548.5(TSC2):c.2257G>C (p.Ala753Pro)
|
|
|
NM_000548.5(TSC2):c.2258C>T (p.Ala753Val)
|
|
|
NM_000548.5(TSC2):c.226-6_228dup
|
|
|
NM_000548.5(TSC2):c.226-74G>A
|
|
|
NM_000548.5(TSC2):c.2262A>C (p.Pro754=)
|
|
|
NM_000548.5(TSC2):c.2269T>A (p.Phe757Ile)
|
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.226_228delinsTAA (p.His76Ter)
|
|
|
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.2280T>C (p.Thr760=)
|
rs2088693411
|
|
NM_000548.5(TSC2):c.2283C>T (p.Asp761=)
|
rs2088693660
|
|
NM_000548.5(TSC2):c.2285T>G (p.Leu762Trp)
|
rs2151327516
|
|
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
|
|
|
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.2291T>C (p.Leu764Pro)
|
|
|
NM_000548.5(TSC2):c.2294C>A (p.Ala765Asp)
|
rs886042145
|
|
NM_000548.5(TSC2):c.2295C>G (p.Ala765=)
|
rs45509500
|
|
NM_000548.5(TSC2):c.2296G>C (p.Val766Leu)
|
|
|
NM_000548.5(TSC2):c.2296G>T (p.Val766Leu)
|
|
|
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)
|
rs777459404
|
|
NM_000548.5(TSC2):c.2301T>A (p.Val767=)
|
rs531724951
|
|
NM_000548.5(TSC2):c.2301T>G (p.Val767=)
|
rs531724951
|
|
NM_000548.5(TSC2):c.2303C>G (p.Pro768Arg)
|
|
|
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.2310G>A (p.Leu770=)
|
|
|
NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser)
|
rs1555506986
|
|
NM_000548.5(TSC2):c.2313A>G (p.Thr771=)
|
rs876658215
|
|
NM_000548.5(TSC2):c.2316A>G (p.Ala772=)
|
|
|
NM_000548.5(TSC2):c.2319A>G (p.Leu773=)
|
rs1359991984
|
|
NM_000548.5(TSC2):c.231A>G (p.Ala77=)
|
rs2151026046
|
|
NM_000548.5(TSC2):c.2322C>G (p.Ile774Met)
|
rs760885994
|
|
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe)
|
rs2088701360
|
|
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp)
|
rs1060500946
|
|
NM_000548.5(TSC2):c.2338C>T (p.Leu780=)
|
rs1555507017
|
|
NM_000548.5(TSC2):c.2340G>A (p.Leu780=)
|
|
|
NM_000548.5(TSC2):c.2343C>G (p.Asp781Glu)
|
rs1446097378
|
|
NM_000548.5(TSC2):c.2347A>G (p.Thr783Ala)
|
|
|
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)
|
rs562945619
|
|
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.2355+2dup
|
|
|
NM_000548.5(TSC2):c.2355+3A>G
|
|
|
NM_000548.5(TSC2):c.2355+5G>C
|
rs756995937
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
NM_000548.5(TSC2):c.2358C>A (p.Arg786=)
|
rs372834284
|
|
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys)
|
rs45517231
|
|
NM_000548.5(TSC2):c.2361G>C (p.Glu787Asp)
|
|
|
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.2371T>C (p.Cys791Arg)
|
|
|
NM_000548.5(TSC2):c.2374C>T (p.Leu792=)
|
|
|
NM_000548.5(TSC2):c.2377G>A (p.Glu793Lys)
|
|
|
NM_000548.5(TSC2):c.2380C>A (p.Gln794Lys)
|
|
|
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.2386C>G (p.Leu796Val)
|
rs1596356291
|
|
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)
|
rs2085359793
|
|
NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs)
|
rs1114167463
|
|
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>G (p.Arg799=)
|
|
|
NM_000548.5(TSC2):c.2397C>T (p.Arg799=)
|
rs2151348621
|
|
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)
|
rs142580483
|
|
NM_000548.5(TSC2):c.2403C>T (p.Ala801=)
|
|
|
NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2406C>T (p.Ser802=)
|
|
|
NM_000548.5(TSC2):c.2408A>G (p.Gln803Arg)
|
|
|
NM_000548.5(TSC2):c.2409G>T (p.Gln803His)
|
rs1400548727
|
|
NM_000548.5(TSC2):c.240A>T (p.Ala80=)
|
|
|
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup)
|
rs1298756950
|
|
NM_000548.5(TSC2):c.241C>T (p.Leu81Phe)
|
|
|
NM_000548.5(TSC2):c.2421C>A (p.Ala807=)
|
|
|
NM_000548.5(TSC2):c.2421C>T (p.Ala807=)
|
rs1060504089
|
|
NM_000548.5(TSC2):c.2422T>C (p.Leu808=)
|
|
|
NM_000548.5(TSC2):c.2424G>C (p.Leu808Phe)
|
|
|
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe)
|
rs796053489
|
|
NM_000548.5(TSC2):c.2425T>G (p.Ser809Ala)
|
|
|
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.2433C>T (p.Cys811=)
|
rs1596356520
|
|
NM_000548.5(TSC2):c.2437G>T (p.Val813Leu)
|
rs375030314
|
|
NM_000548.5(TSC2):c.243C>T (p.Leu81=)
|
|
|
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
|
|
|
NM_000548.5(TSC2):c.2445G>C (p.Met815Ile)
|
|
|
NM_000548.5(TSC2):c.2449G>A (p.Asp817Asn)
|
|
|
NM_000548.5(TSC2):c.244_255del (p.Trp82_Val85del)
|
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
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.2466G>T (p.Ala822=)
|
|
|
NM_000548.5(TSC2):c.2467C>G (p.Leu823Val)
|
|
|
NM_000548.5(TSC2):c.2469G>A (p.Leu823=)
|
rs2151352856
|
|
NM_000548.5(TSC2):c.2471C>A (p.Pro824His)
|
|
|
NM_000548.5(TSC2):c.2471C>G (p.Pro824Arg)
|
|
|
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.2476C>T (p.Leu826=)
|
rs45517238
|
|
NM_000548.5(TSC2):c.2478G>A (p.Leu826=)
|
|
|
NM_000548.5(TSC2):c.2478G>C (p.Leu826=)
|
rs1398112464
|
|
NM_000548.5(TSC2):c.247A>G (p.Lys83Glu)
|
|
|
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.248A>C (p.Lys83Thr)
|
|
|
NM_000548.5(TSC2):c.248A>G (p.Lys83Arg)
|
rs1267562998
|
|
NM_000548.5(TSC2):c.2490C>G (p.Leu830=)
|
rs768573698
|
|
NM_000548.5(TSC2):c.2490C>T (p.Leu830=)
|
rs768573698
|
|
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.2493_2495dup (p.Thr831_His832insGln)
|
|
|
NM_000548.5(TSC2):c.2499C>G (p.Ile833Met)
|
|
|
NM_000548.5(TSC2):c.249G>A (p.Lys83=)
|
rs1202653675
|
|
NM_000548.5(TSC2):c.2500T>A (p.Ser834Thr)
|
|
|
NM_000548.5(TSC2):c.2504C>T (p.Ala835Val)
|
|
|
NM_000548.5(TSC2):c.2507C>T (p.Thr836Ile)
|
|
|
NM_000548.5(TSC2):c.2508A>C (p.Thr836=)
|
rs137854242
|
|
NM_000548.5(TSC2):c.250G>A (p.Ala84Thr)
|
|
|
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.2520C>G (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2521G>C (p.Val841Leu)
|
|
|
NM_000548.5(TSC2):c.2538C>T (p.Phe846=)
|
rs1360361868
|
|
NM_000548.5(TSC2):c.2542T>C (p.Ser848Pro)
|
|
|
NM_000548.5(TSC2):c.2547T>A (p.Thr849=)
|
|
|
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.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
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.2559G>C (p.Leu853=)
|
rs149169643
|
|
NM_000548.5(TSC2):c.2561C>G (p.Pro854Arg)
|
rs1180511535
|
|
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.2568C>T (p.Leu856=)
|
|
|
NM_000548.5(TSC2):c.2569T>G (p.Tyr857Asp)
|
|
|
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)
|
rs878854084
|
|
NM_000548.5(TSC2):c.2576A>C (p.Asn859Thr)
|
rs878854085
|
|
NM_000548.5(TSC2):c.2576A>G (p.Asn859Ser)
|
rs878854085
|
|
NM_000548.5(TSC2):c.2584G>T (p.Ala862Ser)
|
|
|
NM_000548.5(TSC2):c.2587G>A (p.Glu863Lys)
|
|
|
NM_000548.5(TSC2):c.258G>C (p.Ala86=)
|
rs397514912
|
|
NM_000548.5(TSC2):c.258G>T (p.Ala86=)
|
|
|
NM_000548.5(TSC2):c.2591A>G (p.Gln864Arg)
|
rs2151380945
|
|
NM_000548.5(TSC2):c.2592G>A (p.Gln864=)
|
rs763099064
|
|
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2600G>A (p.Ser867Asn)
|
rs751702841
|
|
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.2616C>T (p.Ser872=)
|
rs779843919
|
|
NM_000548.5(TSC2):c.2617C>T (p.Leu873=)
|
rs1555508418
|
|
NM_000548.5(TSC2):c.261T>A (p.Asp87Glu)
|
rs1555496967
|
|
NM_000548.5(TSC2):c.2622G>T (p.Pro874=)
|
rs141486629
|
|
NM_000548.5(TSC2):c.262C>G (p.Leu88Val)
|
|
|
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser)
|
rs1567482364
|
|
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.2633_2639+1del
|
|
|
NM_000548.5(TSC2):c.2634C>T (p.Pro878=)
|
|
|
NM_000548.5(TSC2):c.2635T>A (p.Ser879Thr)
|
|
|
NM_000548.5(TSC2):c.2635_2637del (p.Ser879del)
|
|
|
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu)
|
rs2151382293
|
|
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg)
|
rs2089276233
|
|
NM_000548.5(TSC2):c.263T>G (p.Leu88Arg)
|
|
|
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>T
|
rs753781434
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
NM_000548.5(TSC2):c.264G>C (p.Leu88=)
|
|
|
NM_000548.5(TSC2):c.2653A>C (p.Ile885Leu)
|
|
|
NM_000548.5(TSC2):c.2653A>G (p.Ile885Val)
|
rs1555508581
|
|
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.2658G>A (p.Val886=)
|
rs1035837417
|
|
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs)
|
rs137854232
|
|
NM_000548.5(TSC2):c.2662C>A (p.Leu888Met)
|
|
|
NM_000548.5(TSC2):c.2662C>G (p.Leu888Val)
|
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.2671C>T (p.His891Tyr)
|
rs2089316693
|
|
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr)
|
rs796053491
|
|
NM_000548.5(TSC2):c.267G>T (p.Leu89Phe)
|
|
|
NM_000548.5(TSC2):c.2680G>A (p.Ala894Thr)
|
|
|
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)
|
rs1379507306
|
|
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.268C>A (p.Gln90Lys)
|
|
|
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.2691C>T (p.Phe897=)
|
|
|
NM_000548.5(TSC2):c.2694C>A (p.Ile898=)
|
|
|
NM_000548.5(TSC2):c.2695A>C (p.Arg899=)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2700C>T (p.Cys900=)
|
|
|
NM_000548.5(TSC2):c.2702dup (p.Leu902fs)
|
|
|
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.2709C>A (p.Pro903=)
|
rs780558633
|
|
NM_000548.5(TSC2):c.2709C>T (p.Pro903=)
|
rs780558633
|
|
NM_000548.5(TSC2):c.2711T>G (p.Phe904Cys)
|
|
|
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>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2717A>C (p.Lys906Thr)
|
|
|
NM_000548.5(TSC2):c.2719G>A (p.Asp907Asn)
|
rs1287273870
|
|
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.2728C>T (p.Pro910Ser)
|
rs1319146226
|
|
NM_000548.5(TSC2):c.2728_2729delinsAT (p.Pro910Ile)
|
|
|
NM_000548.5(TSC2):c.2729C>G (p.Pro910Arg)
|
|
|
NM_000548.5(TSC2):c.2732del (p.Phe911fs)
|
|
|
NM_000548.5(TSC2):c.2733C>T (p.Phe911=)
|
rs1596367012
|
|
NM_000548.5(TSC2):c.2737A>C (p.Thr913Pro)
|
|
|
NM_000548.5(TSC2):c.2737A>G (p.Thr913Ala)
|
|
|
NM_000548.5(TSC2):c.2739T>C (p.Thr913=)
|
rs773285889
|
|
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln)
|
rs1422374195
|
|
NM_000548.5(TSC2):c.2742+5dup
|
|
|
NM_000548.5(TSC2):c.2743-1G>A
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-5G>T
|
|
|
NM_000548.5(TSC2):c.2746C>T (p.Leu916=)
|
rs137854274
|
|
NM_000548.5(TSC2):c.274G>C (p.Glu92Gln)
|
|
|
NM_000548.5(TSC2):c.2755A>G (p.Asn919Asp)
|
|
|
NM_000548.5(TSC2):c.2758G>A (p.Val920Ile)
|
rs2151394156
|
|
NM_000548.5(TSC2):c.2758G>T (p.Val920Phe)
|
|
|
NM_000548.5(TSC2):c.2760C>T (p.Val920=)
|
rs149490538
|
|
NM_000548.5(TSC2):c.2763C>T (p.Leu921=)
|
rs771817176
|
|
NM_000548.5(TSC2):c.2764T>G (p.Leu922Val)
|
rs2089404994
|
|
NM_000548.5(TSC2):c.2766G>C (p.Leu922Phe)
|
|
|
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe)
|
rs587778731
|
|
NM_000548.5(TSC2):c.2771T>C (p.Phe924Ser)
|
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
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>G (p.Thr927Ala)
|
|
|
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.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.2802G>A (p.Arg934=)
|
rs2151395548
|
|
NM_000548.5(TSC2):c.2804C>T (p.Ala935Val)
|
rs1555508975
|
|
NM_000548.5(TSC2):c.2805C>T (p.Ala935=)
|
|
|
NM_000548.5(TSC2):c.2811T>A (p.Ser937Arg)
|
|
|
NM_000548.5(TSC2):c.2811T>C (p.Ser937=)
|
|
|
NM_000548.5(TSC2):c.2813C>T (p.Thr938Ile)
|
|
|
NM_000548.5(TSC2):c.2818C>A (p.Leu940Ile)
|
|
|
NM_000548.5(TSC2):c.2818C>T (p.Leu940Phe)
|
rs1378325757
|
|
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.2825A>G (p.Glu942Gly)
|
rs1018951391
|
|
NM_000548.5(TSC2):c.282G>T (p.Pro94=)
|
rs145624233
|
|
NM_000548.5(TSC2):c.2834A>C (p.Lys945Thr)
|
|
|
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)
|
rs886051791
|
|
NM_000548.5(TSC2):c.2837+3A>G
|
|
|
NM_000548.5(TSC2):c.2837+5G>A
|
rs786203791
|
|
NM_000548.5(TSC2):c.2838-122G>A
|
rs1567489890
|
|
NM_000548.5(TSC2):c.2838-2A>C
|
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-3T>G
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-47G>A
|
|
|
NM_000548.5(TSC2):c.2838-5G>A
|
rs876660419
|
|
NM_000548.5(TSC2):c.2839C>T (p.Leu947=)
|
rs2089574802
|
|
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>C (p.Arg948Thr)
|
|
|
NM_000548.5(TSC2):c.2846T>C (p.Ile949Thr)
|
rs2089576147
|
|
NM_000548.5(TSC2):c.2848G>A (p.Ala950Thr)
|
|
|
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)
|
rs780737734
|
|
NM_000548.5(TSC2):c.284T>G (p.Leu95Arg)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.2852G>C (p.Arg951Thr)
|
rs1216438701
|
|
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>T (p.Pro952Ser)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2855C>G (p.Pro952Arg)
|
rs2089578491
|
|
NM_000548.5(TSC2):c.2856C>A (p.Pro952=)
|
rs876660401
|
|
NM_000548.5(TSC2):c.2857C>A (p.Pro953Thr)
|
|
|
NM_000548.5(TSC2):c.2859C>A (p.Pro953=)
|
rs397514968
|
|
NM_000548.5(TSC2):c.2859C>G (p.Pro953=)
|
|
|
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
|
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
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.2868C>A (p.Gly956=)
|
|
|
NM_000548.5(TSC2):c.2868C>T (p.Gly956=)
|
rs141573736
|
|
NM_000548.5(TSC2):c.2871G>C (p.Leu957Phe)
|
rs772755332
|
|
NM_000548.5(TSC2):c.2877C>T (p.Asn959=)
|
rs147523833
|
|
NM_000548.5(TSC2):c.2878T>C (p.Ser960Pro)
|
|
|
NM_000548.5(TSC2):c.2878T>G (p.Ser960Ala)
|
rs1005027685
|
|
NM_000548.5(TSC2):c.2880_2881del (p.Pro961fs)
|
rs2089583790
|
|
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu)
|
rs367640434
|
|
NM_000548.5(TSC2):c.2892A>G (p.Lys964=)
|
rs1326171191
|
|
NM_000548.5(TSC2):c.2893G>T (p.Glu965Ter)
|
|
|
NM_000548.5(TSC2):c.2894A>C (p.Glu965Ala)
|
|
|
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
|
|
|
NM_000548.5(TSC2):c.2901G>A (p.Lys967=)
|
|
|
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.2907C>G (p.Ser969Arg)
|
|
|
NM_000548.5(TSC2):c.2907C>T (p.Ser969=)
|
rs1596375110
|
|
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.2914G>A (p.Ala972Thr)
|
rs1567490981
|
|
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2919G>A (p.Glu973=)
|
|
|
NM_000548.5(TSC2):c.2919G>T (p.Glu973Asp)
|
|
|
NM_000548.5(TSC2):c.2920G>A (p.Ala974Thr)
|
rs556778889
|
|
NM_000548.5(TSC2):c.2921C>A (p.Ala974Asp)
|
|
|
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.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.2930G>T (p.Cys977Phe)
|
|
|
NM_000548.5(TSC2):c.2932C>G (p.Arg978Gly)
|
rs768241596
|
|
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.2938A>G (p.Ile980Val)
|
|
|
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.2947_2950dup (p.Glu984delinsValTer)
|
|
|
NM_000548.5(TSC2):c.294G>A (p.Arg98=)
|
|
|
NM_000548.5(TSC2):c.2957T>G (p.Val986Gly)
|
rs1596375441
|
|
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.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.2966+4G>C
|
rs1235253082
|
|
NM_000548.5(TSC2):c.2966G>C (p.Ser989Thr)
|
rs1555509538
|
|
NM_000548.5(TSC2):c.2967-1G>T
|
rs1596382055
|
|
NM_000548.5(TSC2):c.2967-2A>C
|
|
|
NM_000548.5(TSC2):c.2967-7_2967-3del
|
|
|
NM_000548.5(TSC2):c.2972T>C (p.Ile991Thr)
|
|
|
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)
|
rs45438592
|
|
NM_000548.5(TSC2):c.2976G>A (p.Gln992=)
|
|
|
NM_000548.5(TSC2):c.2979G>C (p.Thr993=)
|
|
|
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)
|
rs752248140
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2994C>T (p.Ala998=)
|
|
|
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)
|
rs149808366
|
|
NM_000548.5(TSC2):c.2999T>C (p.Leu1000Ser)
|
|
|
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>T (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3005C>A (p.Ser1002Tyr)
|
rs748261129
|
|
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3011A>C (p.Asp1004Ala)
|
rs2151431476
|
|
NM_000548.5(TSC2):c.3025G>A (p.Ala1009Thr)
|
|
|
NM_000548.5(TSC2):c.3027C>T (p.Ala1009=)
|
|
|
NM_000548.5(TSC2):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_000548.5(TSC2):c.3029A>G (p.Gln1010Arg)
|
|
|
NM_000548.5(TSC2):c.302T>C (p.Val101Ala)
|
rs2085372909
|
|
NM_000548.5(TSC2):c.302T>G (p.Val101Gly)
|
|
|
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.3037G>A (p.Asp1013Asn)
|
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.3042C>T (p.Ser1014=)
|
|
|
NM_000548.5(TSC2):c.3048A>G (p.Lys1016=)
|
rs1555510299
|
|
NM_000548.5(TSC2):c.3050A>G (p.Asn1017Ser)
|
rs2151432652
|
|
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.3058C>T (p.Leu1020=)
|
rs574318440
|
|
NM_000548.5(TSC2):c.3059_3060insCCAT (p.Glu1021fs)
|
|
|
NM_000548.5(TSC2):c.3067A>G (p.Thr1023Ala)
|
rs2089798819
|
|
NM_000548.5(TSC2):c.3068C>T (p.Thr1023Met)
|
rs1555510327
|
|
NM_000548.5(TSC2):c.306G>T (p.Leu102=)
|
|
|
NM_000548.5(TSC2):c.3077G>T (p.Cys1026Phe)
|
|
|
NM_000548.5(TSC2):c.3079C>T (p.Leu1027=)
|
rs1596382637
|
|
NM_000548.5(TSC2):c.3084C>A (p.Asp1028Glu)
|
|
|
NM_000548.5(TSC2):c.3085A>C (p.Met1029Leu)
|
|
|
NM_000548.5(TSC2):c.3085A>G (p.Met1029Val)
|
|
|
NM_000548.5(TSC2):c.3094C>A (p.Arg1032=)
|
|
|
NM_000548.5(TSC2):c.3094C>G (p.Arg1032Gly)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs)
|
rs1114167461
|
|
NM_000548.5(TSC2):c.30C>A (p.Gly10=)
|
|
|
NM_000548.5(TSC2):c.30C>T (p.Gly10=)
|
rs876659726
|
|
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.3104del (p.Phe1035fs)
|
|
|
NM_000548.5(TSC2):c.3105C>A (p.Phe1035Leu)
|
|
|
NM_000548.5(TSC2):c.3105C>T (p.Phe1035=)
|
rs2151434410
|
|
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)
|
rs1596259554
|
|
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.3116C>T (p.Thr1039Met)
|
rs1596382895
|
|
NM_000548.5(TSC2):c.3120T>C (p.Ala1040=)
|
|
|
NM_000548.5(TSC2):c.3124C>T (p.Pro1042Ser)
|
|
|
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.3131+3C>A
|
rs1420280878
|
|
NM_000548.5(TSC2):c.3132-2A>G
|
|
|
NM_000548.5(TSC2):c.3132-31C>T
|
|
|
NM_000548.5(TSC2):c.3132-4C>G
|
|
|
NM_000548.5(TSC2):c.3132-4C>T
|
rs1228693719
|
|
NM_000548.5(TSC2):c.3134C>G (p.Ser1045Cys)
|
rs1567497647
|
|
NM_000548.5(TSC2):c.3141G>A (p.Val1047=)
|
rs1596383623
|
|
NM_000548.5(TSC2):c.3143G>A (p.Gly1048Asp)
|
|
|
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)
|
rs772640324
|
|
NM_000548.5(TSC2):c.3152T>G (p.Leu1051Arg)
|
|
|
NM_000548.5(TSC2):c.3153C>T (p.Leu1051=)
|
|
|
NM_000548.5(TSC2):c.3156A>C (p.Leu1052=)
|
|
|
NM_000548.5(TSC2):c.3162T>C (p.Gly1054=)
|
|
|
NM_000548.5(TSC2):c.3164_3171dup (p.Lys1058fs)
|
|
|
NM_000548.5(TSC2):c.3165C>G (p.Gly1055=)
|
|
|
NM_000548.5(TSC2):c.3169A>G (p.Thr1057Ala)
|
|
|
NM_000548.5(TSC2):c.316A>C (p.Lys106Gln)
|
rs796053501
|
|
NM_000548.5(TSC2):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_000548.5(TSC2):c.3170C>T (p.Thr1057Ile)
|
rs1596383758
|
|
NM_000548.5(TSC2):c.3171C>T (p.Thr1057=)
|
|
|
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.3182T>C (p.Leu1061Pro)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3183G>T (p.Leu1061=)
|
|
|
NM_000548.5(TSC2):c.3184G>T (p.Val1062Phe)
|
|
|
NM_000548.5(TSC2):c.3185T>G (p.Val1062Gly)
|
|
|
NM_000548.5(TSC2):c.3191A>T (p.Asn1064Ile)
|
|
|
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.3196C>T (p.Leu1066Phe)
|
rs886051793
|
|
NM_000548.5(TSC2):c.31T>C (p.Leu11=)
|
rs978517404
|
|
NM_000548.5(TSC2):c.31T>G (p.Leu11Val)
|
|
|
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=)
|
rs1064794201
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3209C>G (p.Thr1070Arg)
|
|
|
NM_000548.5(TSC2):c.320C>A (p.Ala107Asp)
|
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.3211A>G (p.Thr1071Ala)
|
|
|
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3215G>A (p.Ser1072Asn)
|
|
|
NM_000548.5(TSC2):c.3217G>A (p.Val1073Met)
|
rs749192298
|
|
NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu)
|
|
|
NM_000548.5(TSC2):c.321C>T (p.Ala107=)
|
rs1280933774
|
|
NM_000548.5(TSC2):c.3223A>G (p.Thr1075Ala)
|
rs768568810
|
|
NM_000548.5(TSC2):c.322A>C (p.Ile108Leu)
|
|
|
NM_000548.5(TSC2):c.3232C>A (p.Arg1078=)
|
rs78956195
|
|
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3238T>C (p.Leu1080=)
|
rs1596384213
|
|
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe)
|
rs371514669
|
|
NM_000548.5(TSC2):c.3240A>T (p.Leu1080Phe)
|
|
|
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.3244G>A (p.Gly1082Ser)
|
|
|
NM_000548.5(TSC2):c.3247C>T (p.Leu1083=)
|
|
|
NM_000548.5(TSC2):c.3248T>G (p.Leu1083Arg)
|
|
|
NM_000548.5(TSC2):c.3250G>A (p.Asp1084Asn)
|
rs2151440238
|
|
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>G (p.Ser1085Trp)
|
|
|
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3255G>T (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3256G>A (p.Gly1086Arg)
|
|
|
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3261G>A (p.Glu1087=)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3262C>G (p.Leu1088Val)
|
|
|
NM_000548.5(TSC2):c.3264G>A (p.Leu1088=)
|
rs920434484
|
|
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=)
|
rs1555510717
|
|
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
|
rs1060500936
|
|
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser)
|
rs796053493
|
|
NM_000548.5(TSC2):c.3272G>T (p.Gly1091Val)
|
|
|
NM_000548.5(TSC2):c.3273C>T (p.Gly1091=)
|
rs1060500971
|
|
NM_000548.5(TSC2):c.3275C>A (p.Pro1092Gln)
|
|
|
NM_000548.5(TSC2):c.3275C>G (p.Pro1092Arg)
|
|
|
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)
|
rs368923127
|
|
NM_000548.5(TSC2):c.3277G>C (p.Glu1093Gln)
|
|
|
NM_000548.5(TSC2):c.3280T>G (p.Ser1094Ala)
|
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3283A>T (p.Ser1095Cys)
|
|
|
NM_000548.5(TSC2):c.3284+3G>A
|
rs2089847916
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3285-3C>T
|
rs781023043
|
|
NM_000548.5(TSC2):c.3287C>G (p.Ser1096Cys)
|
rs140772300
|
|
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>T (p.Pro1098Ser)
|
rs772686090
|
|
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg)
|
rs773545852
|
|
NM_000548.5(TSC2):c.3297G>A (p.Gly1099=)
|
|
|
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.3298del (p.Val1100fs)
|
rs137854162
|
|
NM_000548.5(TSC2):c.3299T>G (p.Val1100Gly)
|
|
|
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)
|
rs775584262
|
|
NM_000548.5(TSC2):c.3309A>G (p.Arg1103=)
|
|
|
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile)
|
rs946381749
|
|
NM_000548.5(TSC2):c.3317A>C (p.Lys1106Thr)
|
rs764113584
|
|
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)
|
rs1266039524
|
|
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.3325C>G (p.Pro1109Ala)
|
rs1555510880
|
|
NM_000548.5(TSC2):c.3326C>A (p.Pro1109Gln)
|
|
|
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.3329C>G (p.Ala1110Gly)
|
rs1060500923
|
|
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=)
|
rs1555510912
|
|
NM_000548.5(TSC2):c.3334C>T (p.Leu1112=)
|
rs531172613
|
|
NM_000548.5(TSC2):c.3340_3351del (p.Ser1114_Gly1117del)
|
rs2089874614
|
|
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup)
|
rs1567500517
|
|
NM_000548.5(TSC2):c.3345G>A (p.Gln1115=)
|
|
|
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.3351G>A (p.Gly1117=)
|
rs1596386166
|
|
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)
|
rs1567500641
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
NM_000548.5(TSC2):c.3359T>C (p.Val1120Ala)
|
|
|
NM_000548.5(TSC2):c.335A>C (p.Gln112Pro)
|
|
|
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.3367_3369delinsTGT (p.Gly1123Cys)
|
|
|
NM_000548.5(TSC2):c.3369G>T (p.Gly1123=)
|
|
|
NM_000548.5(TSC2):c.337-1G>T
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-5T>C
|
|
|
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)
|
rs1387479871
|
|
NM_000548.5(TSC2):c.3378T>C (p.Asp1126=)
|
|
|
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=)
|
rs1596386421
|
|
NM_000548.5(TSC2):c.3385C>A (p.Arg1129Ser)
|
|
|
NM_000548.5(TSC2):c.338G>A (p.Gly113Asp)
|
|
|
NM_000548.5(TSC2):c.3393G>A (p.Met1131Ile)
|
|
|
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=)
|
rs373004429
|
|
NM_000548.5(TSC2):c.3398-1G>A
|
rs45517293
|
|
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.339C>T (p.Gly113=)
|
rs368451664
|
|
NM_000548.5(TSC2):c.33G>A (p.Leu11=)
|
rs1190907341
|
|
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3402C>T (p.Gly1134=)
|
rs973994676
|
|
NM_000548.5(TSC2):c.3403C>G (p.His1135Asp)
|
|
|
NM_000548.5(TSC2):c.3403C>T (p.His1135Tyr)
|
rs2151455693
|
|
NM_000548.5(TSC2):c.3406G>A (p.Gly1136Ser)
|
rs2089953185
|
|
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)
|
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.3421_3453del (p.Ala1141_Gly1151del)
|
rs1114167467
|
|
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>T (p.Asp1143Val)
|
rs796053495
|
|
NM_000548.5(TSC2):c.342G>C (p.Glu114Asp)
|
rs1555497542
|
|
NM_000548.5(TSC2):c.342G>T (p.Glu114Asp)
|
|
|
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)
|
rs45517294
|
|
NM_000548.5(TSC2):c.3432G>A (p.Val1144=)
|
|
|
NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)
|
rs1256047792
|
|
NM_000548.5(TSC2):c.3443A>C (p.Gln1148Pro)
|
rs1217539900
|
|
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>T (p.Leu1150=)
|
rs1060504121
|
|
NM_000548.5(TSC2):c.3449T>A (p.Leu1150Gln)
|
|
|
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.3453C>T (p.Gly1151=)
|
rs1596389809
|
|
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly)
|
rs772215032
|
|
NM_000548.5(TSC2):c.3459C>G (p.Ala1153=)
|
rs1596389837
|
|
NM_000548.5(TSC2):c.345T>G (p.Arg115=)
|
|
|
NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3464C>T (p.Ser1155Phe)
|
rs1060500948
|
|
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.3470G>C (p.Gly1157Ala)
|
rs1477039147
|
|
NM_000548.5(TSC2):c.3472C>T (p.Pro1158Ser)
|
rs759350468
|
|
NM_000548.5(TSC2):c.3473C>A (p.Pro1158Gln)
|
|
|
NM_000548.5(TSC2):c.3473C>G (p.Pro1158Arg)
|
rs992338076
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3479C>G (p.Thr1160Ser)
|
rs2151458293
|
|
NM_000548.5(TSC2):c.347T>C (p.Leu116Ser)
|
|
|
NM_000548.5(TSC2):c.3481G>A (p.Ala1161Thr)
|
rs754177014
|
|
NM_000548.5(TSC2):c.3483A>G (p.Ala1161=)
|
|
|
NM_000548.5(TSC2):c.3486A>T (p.Pro1162=)
|
rs1277144134
|
|
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>C (p.Lys1165Gln)
|
|
|
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.3496C>A (p.Pro1166Thr)
|
|
|
NM_000548.5(TSC2):c.3496C>T (p.Pro1166Ser)
|
|
|
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp)
|
rs2151459095
|
|
NM_000548.5(TSC2):c.3502A>G (p.Lys1168Glu)
|
|
|
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
|
|
|
NM_000548.5(TSC2):c.3503A>C (p.Lys1168Thr)
|
|
|
NM_000548.5(TSC2):c.3504G>A (p.Lys1168=)
|
|
|
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3507C>T (p.Ala1169=)
|
rs2089968510
|
|
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.3516C>A (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3518C>G (p.Thr1173Ser)
|
|
|
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.3520C>A (p.Arg1174=)
|
|
|
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.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu)
|
rs1567504468
|
|
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del)
|
rs1060500937
|
|
NM_000548.5(TSC2):c.3539A>C (p.Lys1180Thr)
|
|
|
NM_000548.5(TSC2):c.3539A>G (p.Lys1180Arg)
|
|
|
NM_000548.5(TSC2):c.353T>A (p.Val118Asp)
|
|
|
NM_000548.5(TSC2):c.3540G>T (p.Lys1180Asn)
|
rs1555511520
|
|
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.354C>T (p.Val118=)
|
rs762228318
|
|
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.3558T>C (p.Tyr1186=)
|
rs1202939879
|
|
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)
|
rs1596264734
|
|
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>G (p.Pro1188Ala)
|
|
|
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>A (p.Leu1190Met)
|
|
|
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.3575A>G (p.Gln1192Arg)
|
rs755559677
|
|
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.3584C>G (p.Ala1195Gly)
|
rs773951533
|
|
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.3591C>T (p.Ile1197=)
|
rs765503216
|
|
NM_000548.5(TSC2):c.3592C>T (p.Leu1198=)
|
rs2151462335
|
|
NM_000548.5(TSC2):c.3595G>A (p.Val1199Ile)
|
rs1596390891
|
|
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.3606C>T (p.Pro1202=)
|
rs772580979
|
|
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
|
|
|
NM_000548.5(TSC2):c.360_361del (p.Arg120fs)
|
rs876658878
|
|
NM_000548.5(TSC2):c.3610+4C>G
|
rs201978396
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-3C>T
|
rs753716627
|
|
NM_000548.5(TSC2):c.3611-5C>A
|
rs200194551
|
|
NM_000548.5(TSC2):c.3611-5C>T
|
rs200194551
|
|
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>C (p.Asn1205Thr)
|
|
|
NM_000548.5(TSC2):c.3614A>G (p.Asn1205Ser)
|
|
|
NM_000548.5(TSC2):c.3617C>G (p.Thr1206Ser)
|
rs2090150662
|
|
NM_000548.5(TSC2):c.3618C>T (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3621C>T (p.Ser1207=)
|
rs2151480833
|
|
NM_000548.5(TSC2):c.363C>G (p.Ala121=)
|
|
|
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.3646C>T (p.Leu1216Phe)
|
|
|
NM_000548.5(TSC2):c.3648C>G (p.Leu1216=)
|
rs777246414
|
|
NM_000548.5(TSC2):c.3653C>A (p.Pro1218His)
|
|
|
NM_000548.5(TSC2):c.3654T>C (p.Pro1218=)
|
|
|
NM_000548.5(TSC2):c.3656T>C (p.Phe1219Ser)
|
|
|
NM_000548.5(TSC2):c.3657C>T (p.Phe1219=)
|
rs1596399888
|
|
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.3663_3664del (p.Asp1222fs)
|
rs137854393
|
|
NM_000548.5(TSC2):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_000548.5(TSC2):c.3664G>T (p.Asp1222Tyr)
|
|
|
NM_000548.5(TSC2):c.3666C>G (p.Asp1222Glu)
|
|
|
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.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.3679C>T (p.Pro1227Ser)
|
rs1555512392
|
|
NM_000548.5(TSC2):c.3680C>T (p.Pro1227Leu)
|
rs2090157247
|
|
NM_000548.5(TSC2):c.3680_3685del (p.Pro1227_Leu1228del)
|
|
|
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=)
|
rs181279399
|
|
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.368T>C (p.Phe123Ser)
|
|
|
NM_000548.5(TSC2):c.3691C>T (p.Leu1231=)
|
|
|
NM_000548.5(TSC2):c.3694T>G (p.Ser1232Ala)
|
|
|
NM_000548.5(TSC2):c.3698A>G (p.Asn1233Ser)
|
rs1412376534
|
|
NM_000548.5(TSC2):c.3699C>A (p.Asn1233Lys)
|
|
|
NM_000548.5(TSC2):c.36G>A (p.Lys12=)
|
rs1596233951
|
|
NM_000548.5(TSC2):c.36G>T (p.Lys12Asn)
|
rs1596233951
|
|
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr)
|
rs1567510644
|
|
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)
|
rs547231441
|
|
NM_000548.5(TSC2):c.3712G>T (p.Ala1238Ser)
|
|
|
NM_000548.5(TSC2):c.3719G>A (p.Arg1240His)
|
rs1567510707
|
|
NM_000548.5(TSC2):c.3720C>A (p.Arg1240=)
|
|
|
NM_000548.5(TSC2):c.3725A>G (p.Lys1242Arg)
|
rs1567510728
|
|
NM_000548.5(TSC2):c.3725A>T (p.Lys1242Met)
|
|
|
NM_000548.5(TSC2):c.372T>C (p.Phe124=)
|
rs753922923
|
|
NM_000548.5(TSC2):c.3730C>A (p.His1244Asn)
|
rs993614997
|
|
NM_000548.5(TSC2):c.3731A>T (p.His1244Leu)
|
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=)
|
rs756959674
|
|
NM_000548.5(TSC2):c.3736_3737insTGG (p.Arg1245_Asp1246insVal)
|
|
|
NM_000548.5(TSC2):c.3737_3738delinsGG (p.Asp1246Gly)
|
|
|
NM_000548.5(TSC2):c.373A>C (p.Lys125Gln)
|
|
|
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg)
|
rs2151483328
|
|
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=)
|
rs45517307
|
|
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)
|
rs1596400436
|
|
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.375G>A (p.Lys125=)
|
rs778928295
|
|
NM_000548.5(TSC2):c.3763G>C (p.Val1255Leu)
|
rs1596400585
|
|
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu)
|
rs1596400594
|
|
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.3775A>G (p.Ser1259Gly)
|
|
|
NM_000548.5(TSC2):c.3777del (p.Ser1259fs)
|
rs1114167459
|
|
NM_000548.5(TSC2):c.3780G>C (p.Thr1260=)
|
|
|
NM_000548.5(TSC2):c.3780G>T (p.Thr1260=)
|
|
|
NM_000548.5(TSC2):c.3785A>G (p.Lys1262Arg)
|
rs765255206
|
|
NM_000548.5(TSC2):c.3786A>G (p.Lys1262=)
|
rs752513898
|
|
NM_000548.5(TSC2):c.3789C>G (p.Pro1263=)
|
|
|
NM_000548.5(TSC2):c.3789C>T (p.Pro1263=)
|
rs2151484598
|
|
NM_000548.5(TSC2):c.378C>T (p.Val126=)
|
rs1222534983
|
|
NM_000548.5(TSC2):c.3791CTC[1] (p.Pro1265del)
|
rs876658759
|
|
NM_000548.5(TSC2):c.3792T>C (p.Pro1264=)
|
rs763855971
|
|
NM_000548.5(TSC2):c.3796C>G (p.Leu1266Val)
|
|
|
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=)
|
rs1187813837
|
|
NM_000548.5(TSC2):c.3798G>C (p.Leu1266=)
|
|
|
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.3800C>T (p.Pro1267Leu)
|
rs1245115663
|
|
NM_000548.5(TSC2):c.3803G>T (p.Arg1268Leu)
|
rs200577441
|
|
NM_000548.5(TSC2):c.3808A>C (p.Asn1270His)
|
|
|
NM_000548.5(TSC2):c.3813A>G (p.Thr1271=)
|
rs1555512577
|
|
NM_000548.5(TSC2):c.3814+2T>G
|
|
|
NM_000548.5(TSC2):c.3814+5G>A
|
rs1555512582
|
|
NM_000548.5(TSC2):c.3815-21_3819del
|
|
|
NM_000548.5(TSC2):c.3815-3C>G
|
rs770054036
|
|
NM_000548.5(TSC2):c.3815-8C>T
|
rs1596404187
|
|
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.3819C>A (p.Ala1273=)
|
rs1248167345
|
|
NM_000548.5(TSC2):c.3823T>C (p.Phe1275Leu)
|
rs2090258908
|
|
NM_000548.5(TSC2):c.3825C>A (p.Phe1275Leu)
|
rs761713908
|
|
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.3839A>T (p.Gln1280Leu)
|
rs1596404506
|
|
NM_000548.5(TSC2):c.383A>C (p.Lys128Thr)
|
|
|
NM_000548.5(TSC2):c.3844A>C (p.Ser1282Arg)
|
rs45446700
|
|
NM_000548.5(TSC2):c.3846_3847del (p.Ser1282fs)
|
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.3847T>C (p.Cys1283Arg)
|
|
|
NM_000548.5(TSC2):c.384G>A (p.Lys128=)
|
rs748095129
|
|
NM_000548.5(TSC2):c.3853G>A (p.Gly1285Arg)
|
rs2090264891
|
|
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.3861G>A (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.3863_3867delinsCC (p.His1288_Arg1289delinsPro)
|
|
|
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly)
|
rs2090265922
|
|
NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)
|
rs1567514084
|
|
NM_000548.5(TSC2):c.3869G>C (p.Ser1290Thr)
|
|
|
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg)
|
rs754466663
|
|
NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro)
|
rs1166042912
|
|
NM_000548.5(TSC2):c.3874T>G (p.Ser1292Ala)
|
|
|
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe)
|
rs796053497
|
|
NM_000548.5(TSC2):c.3877T>C (p.Trp1293Arg)
|
|
|
NM_000548.5(TSC2):c.3877T>G (p.Trp1293Gly)
|
|
|
NM_000548.5(TSC2):c.3879G>T (p.Trp1293Cys)
|
|
|
NM_000548.5(TSC2):c.3881C>T (p.Ala1294Val)
|
|
|
NM_000548.5(TSC2):c.3883+15_3883+16del
|
rs137854278
|
|
NM_000548.5(TSC2):c.3883+3A>G
|
rs1366233650
|
|
NM_000548.5(TSC2):c.3883G>A (p.Asp1295Asn)
|
rs2090268813
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-3C>T
|
rs2090415795
|
|
NM_000548.5(TSC2):c.3884-4C>G
|
rs2151509808
|
|
NM_000548.5(TSC2):c.3884-5C>A
|
|
|
NM_000548.5(TSC2):c.3886_3942dup (p.Pro1314_Pro1315insSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluPro)
|
|
|
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.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.3900G>A (p.Met1300Ile)
|
rs1596411903
|
|
NM_000548.5(TSC2):c.3903G>A (p.Glu1301=)
|
rs1429956058
|
|
NM_000548.5(TSC2):c.3904G>A (p.Glu1302Lys)
|
|
|
NM_000548.5(TSC2):c.3910A>C (p.Ser1304Arg)
|
|
|
NM_000548.5(TSC2):c.3914C>A (p.Pro1305Gln)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=)
|
rs11551373
|
|
NM_000548.5(TSC2):c.3916G>A (p.Gly1306Ser)
|
|
|
NM_000548.5(TSC2):c.3917G>A (p.Gly1306Asp)
|
rs1567518028
|
|
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)
|
rs777398393
|
|
NM_000548.5(TSC2):c.3920A>T (p.Glu1307Val)
|
|
|
NM_000548.5(TSC2):c.3921G>C (p.Glu1307Asp)
|
|
|
NM_000548.5(TSC2):c.3924T>C (p.Val1308=)
|
rs878854097
|
|
NM_000548.5(TSC2):c.3925C>T (p.Pro1309Ser)
|
rs1049538280
|
|
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.3935T>G (p.Val1312Gly)
|
|
|
NM_000548.5(TSC2):c.3936G>A (p.Val1312=)
|
rs876659932
|
|
NM_000548.5(TSC2):c.3939G>A (p.Glu1313=)
|
rs149340262
|
|
NM_000548.5(TSC2):c.3940C>A (p.Pro1314Thr)
|
|
|
NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser)
|
rs771499212
|
|
NM_000548.5(TSC2):c.3943C>A (p.Pro1315Thr)
|
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.3947G>A (p.Gly1316Glu)
|
rs1555513513
|
|
NM_000548.5(TSC2):c.3948G>T (p.Gly1316=)
|
|
|
NM_000548.5(TSC2):c.3949T>C (p.Leu1317=)
|
|
|
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser)
|
rs2090425460
|
|
NM_000548.5(TSC2):c.3954G>A (p.Glu1318=)
|
rs1165479631
|
|
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)
|
rs45517322
|
|
NM_000548.5(TSC2):c.3957C>G (p.Asp1319Glu)
|
|
|
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.3967G>A (p.Ala1323Thr)
|
rs1248093496
|
|
NM_000548.5(TSC2):c.3969G>C (p.Ala1323=)
|
|
|
NM_000548.5(TSC2):c.3969G>T (p.Ala1323=)
|
rs749057825
|
|
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.3974G>T (p.Gly1325Val)
|
rs754680848
|
|
NM_000548.5(TSC2):c.3976A>G (p.Met1326Val)
|
|
|
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.3983G>A (p.Arg1328Lys)
|
rs112885324
|
|
NM_000548.5(TSC2):c.3986G>C (p.Arg1329Pro)
|
|
|
NM_000548.5(TSC2):c.3987C>T (p.Arg1329=)
|
|
|
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.3996C>T (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)
|
rs766814650
|
|
NM_000548.5(TSC2):c.4001G>C (p.Ser1334Thr)
|
|
|
NM_000548.5(TSC2):c.4002C>T (p.Ser1334=)
|
rs1060500911
|
|
NM_000548.5(TSC2):c.4003A>T (p.Arg1335Trp)
|
|
|
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser)
|
rs2090436302
|
|
NM_000548.5(TSC2):c.4006-5T>C
|
rs1596415173
|
|
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.4009T>A (p.Ser1337Thr)
|
|
|
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4011C>T (p.Ser1337=)
|
|
|
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
|
|
|
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.4020C>T (p.Ser1340=)
|
rs1596415292
|
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
|
NM_000548.5(TSC2):c.4025A>T (p.Gln1342Leu)
|
|
|
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del)
|
rs878854100
|
|
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.4031A>G (p.Glu1344Gly)
|
rs2090482288
|
|
NM_000548.5(TSC2):c.4035G>C (p.Lys1345Asn)
|
rs1335576471
|
|
NM_000548.5(TSC2):c.4037C>G (p.Ser1346Trp)
|
|
|
NM_000548.5(TSC2):c.4040T>A (p.Leu1347His)
|
|
|
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)
|
rs1060504109
|
|
NM_000548.5(TSC2):c.4046C>A (p.Ala1349Glu)
|
rs201979616
|
|
NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val)
|
rs1378842608
|
|
NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys)
|
rs878854101
|
|
NM_000548.5(TSC2):c.4053G>A (p.Glu1351=)
|
|
|
NM_000548.5(TSC2):c.4055T>A (p.Leu1352Gln)
|
|
|
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.4057G>T (p.Val1353Phe)
|
rs373982157
|
|
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp)
|
rs878854102
|
|
NM_000548.5(TSC2):c.4062C>T (p.Gly1354=)
|
|
|
NM_000548.5(TSC2):c.4065G>A (p.Arg1355=)
|
rs2151521953
|
|
NM_000548.5(TSC2):c.4066G>A (p.Gly1356Ser)
|
|
|
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)
|
rs747104864
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
|
NM_000548.5(TSC2):c.4070T>A (p.Ile1357Asn)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4071C>T (p.Ile1357=)
|
|
|
NM_000548.5(TSC2):c.4079del (p.Glu1360fs)
|
|
|
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro)
|
rs762798984
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
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>G (p.Ser1364Cys)
|
|
|
NM_000548.5(TSC2):c.4091C>T (p.Ser1364Phe)
|
|
|
NM_000548.5(TSC2):c.4092C>T (p.Ser1364=)
|
rs1251019267
|
|
NM_000548.5(TSC2):c.4093T>A (p.Ser1365Thr)
|
|
|
NM_000548.5(TSC2):c.4095G>C (p.Ser1365=)
|
|
|
NM_000548.5(TSC2):c.4098G>A (p.Glu1366=)
|
|
|
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.4103G>A (p.Gly1368Asp)
|
rs1596415974
|
|
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=)
|
rs45517328
|
|
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.4110C>T (p.Pro1370=)
|
rs771107874
|
|
NM_000548.5(TSC2):c.4111T>A (p.Ser1371Thr)
|
|
|
NM_000548.5(TSC2):c.4114G>A (p.Val1372Met)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.411C>G (p.His137Gln)
|
rs776129896
|
|
NM_000548.5(TSC2):c.4121T>G (p.Leu1374Arg)
|
rs2151523920
|
|
NM_000548.5(TSC2):c.4124C>G (p.Ser1375Cys)
|
rs145476528
|
|
NM_000548.5(TSC2):c.4125C>G (p.Ser1375=)
|
rs1050512482
|
|
NM_000548.5(TSC2):c.4127T>A (p.Phe1376Tyr)
|
|
|
NM_000548.5(TSC2):c.4128C>G (p.Phe1376Leu)
|
|
|
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=)
|
rs1060504086
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.4131G>C (p.Gln1377His)
|
|
|
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.4133C>G (p.Pro1378Arg)
|
rs1596416159
|
|
NM_000548.5(TSC2):c.4133C>T (p.Pro1378Leu)
|
|
|
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.4137G>T (p.Ser1379=)
|
rs769653533
|
|
NM_000548.5(TSC2):c.4139A>G (p.Gln1380Arg)
|
|
|
NM_000548.5(TSC2):c.413A>T (p.Glu138Val)
|
|
|
NM_000548.5(TSC2):c.4140G>A (p.Gln1380=)
|
rs1596416227
|
|
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu)
|
rs397515264
|
|
NM_000548.5(TSC2):c.4145T>A (p.Leu1382Gln)
|
|
|
NM_000548.5(TSC2):c.4149C>G (p.Ser1383Arg)
|
|
|
NM_000548.5(TSC2):c.4152G>A (p.Lys1384=)
|
rs2151525029
|
|
NM_000548.5(TSC2):c.4154C>G (p.Ser1385Cys)
|
|
|
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>T (p.Ser1386Ile)
|
|
|
NM_000548.5(TSC2):c.4162T>G (p.Ser1388Ala)
|
|
|
NM_000548.5(TSC2):c.4163C>A (p.Ser1388Tyr)
|
|
|
NM_000548.5(TSC2):c.4167C>A (p.Pro1389=)
|
rs45508504
|
|
NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys)
|
rs397515033
|
|
NM_000548.5(TSC2):c.418C>G (p.Leu140Val)
|
rs1555497657
|
|
NM_000548.5(TSC2):c.418C>T (p.Leu140=)
|
rs1555497657
|
|
NM_000548.5(TSC2):c.4190T>C (p.Ile1397Thr)
|
rs2090503435
|
|
NM_000548.5(TSC2):c.4196G>T (p.Gly1399Val)
|
|
|
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.41A>G (p.Lys14Arg)
|
rs1263108967
|
|
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.4206G>T (p.Gly1402=)
|
rs2090505727
|
|
NM_000548.5(TSC2):c.4208A>C (p.Asp1403Ala)
|
rs1359988294
|
|
NM_000548.5(TSC2):c.420G>A (p.Leu140=)
|
rs876660078
|
|
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.4219G>C (p.Val1407Leu)
|
rs45517332
|
|
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.4234C>T (p.Pro1412Ser)
|
rs1480313663
|
|
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=)
|
rs907082165
|
|
NM_000548.5(TSC2):c.4245G>T (p.Lys1415Asn)
|
rs1431882138
|
|
NM_000548.5(TSC2):c.4248C>G (p.Ala1416=)
|
rs1393358018
|
|
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.4250G>A (p.Arg1417Gln)
|
rs1343536158
|
|
NM_000548.5(TSC2):c.4251G>A (p.Arg1417=)
|
rs1455362130
|
|
NM_000548.5(TSC2):c.4254A>G (p.Ser1418=)
|
|
|
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.4263dup (p.Thr1422fs)
|
|
|
NM_000548.5(TSC2):c.4265C>A (p.Thr1422Asn)
|
rs760230300
|
|
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.4271A>G (p.Asp1424Gly)
|
rs876659933
|
|
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg)
|
rs763497329
|
|
NM_000548.5(TSC2):c.4274G>T (p.Gly1425Val)
|
|
|
NM_000548.5(TSC2):c.4275_4294del (p.Glu1426fs)
|
|
|
NM_000548.5(TSC2):c.4277A>G (p.Glu1426Gly)
|
rs2090515740
|
|
NM_000548.5(TSC2):c.4278A>C (p.Glu1426Asp)
|
|
|
NM_000548.5(TSC2):c.4280G>A (p.Ser1427Asn)
|
|
|
NM_000548.5(TSC2):c.4283C>T (p.Ala1428Val)
|
rs2151530908
|
|
NM_000548.5(TSC2):c.4288T>C (p.Trp1430Arg)
|
rs1596417336
|
|
NM_000548.5(TSC2):c.4289G>T (p.Trp1430Leu)
|
|
|
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp)
|
rs375785710
|
|
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
NM_000548.5(TSC2):c.4314G>T (p.Arg1438=)
|
|
|
NM_000548.5(TSC2):c.4315_4316insTCG (p.Arg1438_Gly1439insVal)
|
rs1596417514
|
|
NM_000548.5(TSC2):c.4316G>C (p.Gly1439Ala)
|
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
NM_000548.5(TSC2):c.4323C>G (p.Pro1441=)
|
rs536527623
|
|
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.4335G>A (p.Leu1445=)
|
|
|
NM_000548.5(TSC2):c.4337C>T (p.Pro1446Leu)
|
rs2090523005
|
|
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.4346C>A (p.Ser1449Tyr)
|
|
|
NM_000548.5(TSC2):c.4346C>G (p.Ser1449Cys)
|
|
|
NM_000548.5(TSC2):c.4347C>T (p.Ser1449=)
|
rs2151533587
|
|
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His)
|
rs45517338
|
|
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.4357C>T (p.Pro1453Ser)
|
|
|
NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu)
|
|
|
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>T (p.Ser1454Ile)
|
rs758233186
|
|
NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4363G>A (p.Gly1455Ser)
|
|
|
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)
|
rs2090527409
|
|
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe)
|
rs1199848222
|
|
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)
|
rs1555514397
|
|
NM_000548.5(TSC2):c.436C>T (p.Leu146Phe)
|
rs997604465
|
|
NM_000548.5(TSC2):c.4371G>A (p.Arg1457=)
|
rs1596417989
|
|
NM_000548.5(TSC2):c.4373C>T (p.Pro1458Leu)
|
|
|
NM_000548.5(TSC2):c.4376G>A (p.Arg1459Gln)
|
rs1555514409
|
|
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser)
|
|
|
NM_000548.5(TSC2):c.4381T>A (p.Tyr1461Asn)
|
|
|
NM_000548.5(TSC2):c.4388T>A (p.Ile1463Asn)
|
|
|
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=)
|
rs1555514425
|
|
NM_000548.5(TSC2):c.4391C>G (p.Ser1464Cys)
|
rs1596418078
|
|
NM_000548.5(TSC2):c.4392C>G (p.Ser1464=)
|
rs528080018
|
|
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.4397C>G (p.Ser1466Trp)
|
|
|
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=)
|
rs376086638
|
|
NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser)
|
rs774980656
|
|
NM_000548.5(TSC2):c.4401C>A (p.Ala1467=)
|
rs370735624
|
|
NM_000548.5(TSC2):c.4404A>C (p.Pro1468=)
|
|
|
NM_000548.5(TSC2):c.4404A>G (p.Pro1468=)
|
|
|
NM_000548.5(TSC2):c.4405T>A (p.Ser1469Thr)
|
|
|
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala)
|
rs907136617
|
|
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)
|
rs1060500969
|
|
NM_000548.5(TSC2):c.4410C>G (p.Arg1470=)
|
|
|
NM_000548.5(TSC2):c.4411A>T (p.Arg1471Trp)
|
|
|
NM_000548.5(TSC2):c.4412G>A (p.Arg1471Lys)
|
|
|
NM_000548.5(TSC2):c.4412G>C (p.Arg1471Thr)
|
|
|
NM_000548.5(TSC2):c.4414G>C (p.Gly1472Arg)
|
|
|
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln)
|
rs397515136
|
|
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.4422_4423del (p.Arg1474fs)
|
rs137854307
|
|
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)
|
rs1202676769
|
|
NM_000548.5(TSC2):c.4426G>C (p.Glu1476Gln)
|
rs376946970
|
|
NM_000548.5(TSC2):c.4427A>C (p.Glu1476Ala)
|
|
|
NM_000548.5(TSC2):c.4428G>C (p.Glu1476Asp)
|
rs765447466
|
|
NM_000548.5(TSC2):c.442G>C (p.Asp148His)
|
rs2151043628
|
|
NM_000548.5(TSC2):c.4431G>A (p.Arg1477=)
|
rs76934857
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
|
rs777529733
|
|
NM_000548.5(TSC2):c.4437C>A (p.Ala1479=)
|
rs2151536553
|
|
NM_000548.5(TSC2):c.4440A>C (p.Leu1480Phe)
|
|
|
NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg)
|
rs2090538754
|
|
NM_000548.5(TSC2):c.4442A>T (p.Lys1481Met)
|
|
|
NM_000548.5(TSC2):c.4448G>A (p.Arg1483Lys)
|
|
|
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.445A>G (p.Asn149Asp)
|
rs878854107
|
|
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.4465G>A (p.Ala1489Thr)
|
rs587778740
|
|
NM_000548.5(TSC2):c.4466C>A (p.Ala1489Glu)
|
|
|
NM_000548.5(TSC2):c.4466C>T (p.Ala1489Val)
|
rs1596418744
|
|
NM_000548.5(TSC2):c.4467A>C (p.Ala1489=)
|
rs876660324
|
|
NM_000548.5(TSC2):c.4470G>A (p.Glu1490=)
|
|
|
NM_000548.5(TSC2):c.4470G>T (p.Glu1490Asp)
|
rs1221986548
|
|
NM_000548.5(TSC2):c.4477C>G (p.Pro1493Ala)
|
rs878854108
|
|
NM_000548.5(TSC2):c.4481G>A (p.Gly1494Asp)
|
|
|
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4494-3C>A
|
|
|
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.44T>G (p.Phe15Cys)
|
|
|
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met)
|
rs928525608
|
|
NM_000548.5(TSC2):c.4506G>C (p.Leu1502=)
|
rs1555514870
|
|
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.4512C>G (p.Leu1504=)
|
rs771595886
|
|
NM_000548.5(TSC2):c.4517A>T (p.His1506Leu)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4518T>G (p.His1506Gln)
|
|
|
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.4522_4524del (p.Pro1508del)
|
|
|
NM_000548.5(TSC2):c.4524C>A (p.Pro1508=)
|
rs1596422510
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)
|
rs775919951
|
|
NM_000548.5(TSC2):c.4527C>T (p.Phe1509=)
|
|
|
NM_000548.5(TSC2):c.4529T>C (p.Phe1510Ser)
|
|
|
NM_000548.5(TSC2):c.4531G>T (p.Gly1511Cys)
|
|
|
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4533C>A (p.Gly1511=)
|
|
|
NM_000548.5(TSC2):c.4534G>C (p.Asp1512His)
|
rs774441486
|
|
NM_000548.5(TSC2):c.4536C>A (p.Asp1512Glu)
|
|
|
NM_000548.5(TSC2):c.4537del (p.Glu1513fs)
|
rs137854028
|
|
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly)
|
rs1596422775
|
|
NM_000548.5(TSC2):c.4543A>G (p.Asn1515Asp)
|
|
|
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.4554C>G (p.Ile1518Met)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=)
|
rs1596423200
|
|
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.4565A>T (p.Asn1522Ile)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4566T>A (p.Asn1522Lys)
|
|
|
NM_000548.5(TSC2):c.4566del (p.Asn1522fs)
|
|
|
NM_000548.5(TSC2):c.4568A>C (p.Glu1523Ala)
|
rs777406873
|
|
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.4570-13C>G
|
rs370549253
|
|
NM_000548.5(TSC2):c.4570-1_4572del
|
|
|
NM_000548.5(TSC2):c.4570-2A>G
|
rs2151549641
|
|
NM_000548.5(TSC2):c.4570-5C>T
|
|
|
NM_000548.5(TSC2):c.4570-66G>A
|
rs45496499
|
|
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4573C>A (p.Gln1525Lys)
|
|
|
NM_000548.5(TSC2):c.4575G>A (p.Gln1525=)
|
rs1596426497
|
|
NM_000548.5(TSC2):c.4576T>A (p.Ser1526Thr)
|
rs1596426554
|
|
NM_000548.5(TSC2):c.4581T>A (p.Phe1527Leu)
|
rs745860116
|
|
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln)
|
rs2090622255
|
|
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4585C>G (p.Arg1529Gly)
|
|
|
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4587G>A (p.Arg1529=)
|
rs2151550637
|
|
NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter)
|
|
|
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)
|
rs1567528487
|
|
NM_000548.5(TSC2):c.458T>A (p.Ile153Asn)
|
|
|
NM_000548.5(TSC2):c.4596G>A (p.Gln1532=)
|
|
|
NM_000548.5(TSC2):c.459C>A (p.Ile153=)
|
|
|
NM_000548.5(TSC2):c.45T>G (p.Phe15Leu)
|
|
|
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His)
|
rs45517353
|
|
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.4610T>A (p.Ile1537Asn)
|
|
|
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.4623C>T (p.Asp1541=)
|
rs1555515315
|
|
NM_000548.5(TSC2):c.4625C>G (p.Thr1542Ser)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4627C>T (p.His1543Tyr)
|
rs1567528890
|
|
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)
|
|
|
NM_000548.5(TSC2):c.4632G>A (p.Lys1544=)
|
|
|
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)
|
rs878854109
|
|
NM_000548.5(TSC2):c.4633A>T (p.Ile1545Phe)
|
|
|
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.4637C>T (p.Ala1546Val)
|
|
|
NM_000548.5(TSC2):c.4641C>T (p.Val1547=)
|
rs1060504087
|
|
NM_000548.5(TSC2):c.4642C>T (p.Leu1548=)
|
|
|
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)
|
rs397515028
|
|
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.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.4656A>G (p.Glu1552=)
|
rs878854110
|
|
NM_000548.5(TSC2):c.4657G>T (p.Gly1553Cys)
|
|
|
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>A (p.Gln1554Lys)
|
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-20CCTCTCC[3]
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-2A>G
|
|
|
NM_000548.5(TSC2):c.4663-4A>G
|
|
|
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn)
|
rs1354678802
|
|
NM_000548.5(TSC2):c.4666A>G (p.Asn1556Asp)
|
rs2151569260
|
|
NM_000548.5(TSC2):c.4668C>T (p.Asn1556=)
|
|
|
NM_000548.5(TSC2):c.4670G>C (p.Ser1557Thr)
|
|
|
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg)
|
rs151140709
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4674G>A (p.Glu1558=)
|
rs2151569595
|
|
NM_000548.5(TSC2):c.4675C>T (p.Leu1559Phe)
|
rs1327797297
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
NM_000548.5(TSC2):c.467T>C (p.Leu156Ser)
|
|
|
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=)
|
rs1057523304
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4686G>A (p.Leu1562=)
|
|
|
NM_000548.5(TSC2):c.468G>A (p.Leu156=)
|
rs2085514413
|
|
NM_000548.5(TSC2):c.4691A>C (p.Asn1564Thr)
|
|
|
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser)
|
rs876659806
|
|
NM_000548.5(TSC2):c.4695G>A (p.Glu1565=)
|
|
|
NM_000548.5(TSC2):c.4695G>C (p.Glu1565Asp)
|
rs762372483
|
|
NM_000548.5(TSC2):c.4696C>T (p.His1566Tyr)
|
rs1596438391
|
|
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp)
|
rs45517364
|
|
NM_000548.5(TSC2):c.4701C>G (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys)
|
rs1555516036
|
|
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.4710G>A (p.Arg1570=)
|
rs1389060581
|
|
NM_000548.5(TSC2):c.4713C>T (p.Tyr1571=)
|
rs45517366
|
|
NM_000548.5(TSC2):c.4714A>G (p.Thr1572Ala)
|
|
|
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.4722C>G (p.Phe1574Leu)
|
rs565576095
|
|
NM_000548.5(TSC2):c.4722C>T (p.Phe1574=)
|
rs565576095
|
|
NM_000548.5(TSC2):c.4726A>G (p.Thr1576Ala)
|
|
|
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.4732C>G (p.Leu1578Val)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4734G>A (p.Leu1578=)
|
|
|
NM_000548.5(TSC2):c.4736G>A (p.Gly1579Asp)
|
rs397515222
|
|
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.4749G>A (p.Glu1583=)
|
rs1257270850
|
|
NM_000548.5(TSC2):c.474A>C (p.Glu158Asp)
|
|
|
NM_000548.5(TSC2):c.474A>G (p.Glu158=)
|
|
|
NM_000548.5(TSC2):c.4750C>A (p.Leu1584Met)
|
|
|
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.4754A>G (p.Lys1585Arg)
|
|
|
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu)
|
rs1366814192
|
|
NM_000548.5(TSC2):c.475G>A (p.Glu159Lys)
|
|
|
NM_000548.5(TSC2):c.4763A>G (p.Gln1588Arg)
|
|
|
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.476A>T (p.Glu159Val)
|
rs1555497716
|
|
NM_000548.5(TSC2):c.4772A>C (p.Lys1591Thr)
|
|
|
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg)
|
rs1596439144
|
|
NM_000548.5(TSC2):c.4775T>A (p.Val1592Glu)
|
rs2151573942
|
|
NM_000548.5(TSC2):c.4780C>G (p.Leu1594Val)
|
|
|
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.4784G>A (p.Gly1595Glu)
|
|
|
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>C (p.Leu1597=)
|
rs1060504112
|
|
NM_000548.5(TSC2):c.4792G>T (p.Asp1598Tyr)
|
|
|
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.4796T>C (p.Val1599Ala)
|
|
|
NM_000548.5(TSC2):c.4802G>A (p.Gly1601Asp)
|
|
|
NM_000548.5(TSC2):c.4806G>T (p.Glu1602Asp)
|
rs1177233720
|
|
NM_000548.5(TSC2):c.4812C>T (p.Gly1604=)
|
|
|
NM_000548.5(TSC2):c.4815G>T (p.Gln1605His)
|
|
|
NM_000548.5(TSC2):c.4817T>C (p.Phe1606Ser)
|
|
|
NM_000548.5(TSC2):c.482-13G>A
|
rs1221885368
|
|
NM_000548.5(TSC2):c.482-4C>A
|
|
|
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)
|
rs878854111
|
|
NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser)
|
rs759795928
|
|
NM_000548.5(TSC2):c.4826G>A (p.Cys1609Tyr)
|
|
|
NM_000548.5(TSC2):c.4826G>T (p.Cys1609Phe)
|
rs1233744012
|
|
NM_000548.5(TSC2):c.4827C>T (p.Cys1609=)
|
rs1179490369
|
|
NM_000548.5(TSC2):c.4827_4835delinsG (p.Cys1609fs)
|
|
|
NM_000548.5(TSC2):c.4833C>G (p.His1611Gln)
|
|
|
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr)
|
rs886051795
|
|
NM_000548.5(TSC2):c.4836T>C (p.Asp1612=)
|
rs2151576368
|
|
NM_000548.5(TSC2):c.4840A>C (p.Ile1614Leu)
|
rs1555516299
|
|
NM_000548.5(TSC2):c.4843A>G (p.Met1615Val)
|
|
|
NM_000548.5(TSC2):c.4845G>T (p.Met1615Ile)
|
|
|
NM_000548.5(TSC2):c.4847A>G (p.Gln1616Arg)
|
rs1555516313
|
|
NM_000548.5(TSC2):c.4849+1G>A
|
rs45517375
|
|
NM_000548.5(TSC2):c.4849+2T>C
|
|
|
NM_000548.5(TSC2):c.4849+6_4849+27del
|
rs1596439736
|
|
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr)
|
rs2090791005
|
|
NM_000548.5(TSC2):c.484G>T (p.Asp162Tyr)
|
|
|
NM_000548.5(TSC2):c.4850-5C>T
|
rs1596442866
|
|
NM_000548.5(TSC2):c.4850C>T (p.Ala1617Val)
|
rs1412545821
|
|
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.4861A>G (p.Ile1621Val)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4863C>A (p.Ile1621=)
|
|
|
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=)
|
rs150239180
|
|
NM_000548.5(TSC2):c.486C>G (p.Asp162Glu)
|
|
|
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.4878C>T (p.Pro1626=)
|
|
|
NM_000548.5(TSC2):c.4880C>A (p.Thr1627Asn)
|
rs1555438434
|
|
NM_000548.5(TSC2):c.4883A>C (p.Lys1628Thr)
|
|
|
NM_000548.5(TSC2):c.4884G>A (p.Lys1628=)
|
rs2090853639
|
|
NM_000548.5(TSC2):c.4889T>G (p.Val1630Gly)
|
|
|
NM_000548.5(TSC2):c.4891G>A (p.Asp1631Asn)
|
|
|
NM_000548.5(TSC2):c.4895A>C (p.Lys1632Thr)
|
|
|
NM_000548.5(TSC2):c.4897C>T (p.His1633Tyr)
|
|
|
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del)
|
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
NM_000548.5(TSC2):c.4902C>A (p.Arg1634=)
|
|
|
NM_000548.5(TSC2):c.490G>A (p.Val164Ile)
|
|
|
NM_000548.5(TSC2):c.4910_4989+126dup
|
|
|
NM_000548.5(TSC2):c.4913A>C (p.Lys1638Thr)
|
|
|
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.4919A>G (p.His1640Arg)
|
rs794727602
|
|
NM_000548.5(TSC2):c.4920C>T (p.His1640=)
|
rs1555438576
|
|
NM_000548.5(TSC2):c.4921C>T (p.Leu1641=)
|
rs1343423120
|
|
NM_000548.5(TSC2):c.4923G>A (p.Leu1641=)
|
rs1555438590
|
|
NM_000548.5(TSC2):c.4923G>C (p.Leu1641=)
|
|
|
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4932C>G (p.Asp1644Glu)
|
rs1395198412
|
|
NM_000548.5(TSC2):c.4933T>C (p.Phe1645Leu)
|
rs1596443758
|
|
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.4947C>G (p.Val1649=)
|
rs778989782
|
|
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys)
|
rs45501091
|
|
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp)
|
rs2090865014
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.4959C>G (p.Ser1653=)
|
rs45517384
|
|
NM_000548.5(TSC2):c.4960G>T (p.Gly1654Cys)
|
rs771911660
|
|
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr)
|
rs878854112
|
|
NM_000548.5(TSC2):c.4971C>A (p.Phe1657Leu)
|
|
|
NM_000548.5(TSC2):c.4971C>T (p.Phe1657=)
|
rs1596444029
|
|
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4976T>G (p.Leu1659Arg)
|
rs2090868646
|
|
NM_000548.5(TSC2):c.4978G>A (p.Gly1660Ser)
|
|
|
NM_000548.5(TSC2):c.4979G>A (p.Gly1660Asp)
|
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.4984A>G (p.Ile1662Val)
|
rs2151589566
|
|
NM_000548.5(TSC2):c.4989+7G>C
|
rs1460236999
|
|
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.498G>A (p.Gln166=)
|
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.4990G>T (p.Gly1664Cys)
|
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
NM_000548.5(TSC2):c.4993C>G (p.Gln1665Glu)
|
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.4999A>G (p.Asn1667Asp)
|
rs1182240785
|
|
NM_000548.5(TSC2):c.49A>G (p.Ile17Val)
|
rs1274194851
|
|
NM_000548.5(TSC2):c.4G>C (p.Ala2Pro)
|
|
|
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>G (p.Phe1668Leu)
|
rs745787082
|
|
NM_000548.5(TSC2):c.5005G>T (p.Val1669Phe)
|
|
|
NM_000548.5(TSC2):c.5007C>T (p.Val1669=)
|
rs1596454977
|
|
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp)
|
rs1596454994
|
|
NM_000548.5(TSC2):c.5008C>T (p.His1670Tyr)
|
|
|
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.501G>C (p.Trp167Cys)
|
rs755728007
|
|
NM_000548.5(TSC2):c.5020A>G (p.Thr1674Ala)
|
|
|
NM_000548.5(TSC2):c.5021C>G (p.Thr1674Ser)
|
rs1555439727
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5026C>A (p.Leu1676Met)
|
rs201707249
|
|
NM_000548.5(TSC2):c.5029G>T (p.Asp1677Tyr)
|
|
|
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.5035G>C (p.Glu1679Gln)
|
rs370404391
|
|
NM_000548.5(TSC2):c.5036A>C (p.Glu1679Ala)
|
rs1389903110
|
|
NM_000548.5(TSC2):c.5037G>C (p.Glu1679Asp)
|
|
|
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser)
|
rs1555439802
|
|
NM_000548.5(TSC2):c.5043C>A (p.Asn1681Lys)
|
|
|
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro)
|
|
|
NM_000548.5(TSC2):c.5046G>C (p.Leu1682=)
|
|
|
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)
|
rs1596455392
|
|
NM_000548.5(TSC2):c.5049G>A (p.Val1683=)
|
rs1256890176
|
|
NM_000548.5(TSC2):c.504G>A (p.Met168Ile)
|
|
|
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.5057A>G (p.Gln1686Arg)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5059T>C (p.Cys1687Arg)
|
|
|
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.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5069-13C>T
|
rs542607400
|
|
NM_000548.5(TSC2):c.5069-3_5069-2del
|
rs1114167460
|
|
NM_000548.5(TSC2):c.5069-4C>T
|
rs1555440004
|
|
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.5077G>A (p.Gly1693Ser)
|
rs2091088245
|
|
NM_000548.5(TSC2):c.5078G>A (p.Gly1693Asp)
|
|
|
NM_000548.5(TSC2):c.5082T>C (p.Leu1694=)
|
rs2151620148
|
|
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala)
|
|
|
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.5092A>C (p.Ser1698Arg)
|
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser)
|
|
|
NM_000548.5(TSC2):c.5100C>G (p.Ala1700=)
|
rs1172938826
|
|
NM_000548.5(TSC2):c.5103G>A (p.Lys1701=)
|
rs768476974
|
|
NM_000548.5(TSC2):c.5103G>C (p.Lys1701Asn)
|
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala)
|
rs45498401
|
|
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.5111_5112dup (p.Asp1705fs)
|
|
|
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.5115_5116dup (p.Arg1706fs)
|
|
|
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.5118C>G (p.Arg1706=)
|
|
|
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)
|
rs1300582033
|
|
NM_000548.5(TSC2):c.5120A>C (p.Asn1707Thr)
|
|
|
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)
|
rs397515274
|
|
NM_000548.5(TSC2):c.5124G>C (p.Leu1708=)
|
|
|
NM_000548.5(TSC2):c.5127C>G (p.Pro1709=)
|
|
|
NM_000548.5(TSC2):c.5127C>T (p.Pro1709=)
|
rs200162473
|
|
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)
|
rs983899092
|
|
NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu)
|
rs139779505
|
|
NM_000548.5(TSC2):c.5137C>A (p.Arg1713Ser)
|
rs759420443
|
|
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.5149C>G (p.Leu1717Val)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.5149C>T (p.Leu1717=)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.514T>G (p.Leu172Val)
|
|
|
NM_000548.5(TSC2):c.5152C>T (p.His1718Tyr)
|
rs1567130289
|
|
NM_000548.5(TSC2):c.5153A>T (p.His1718Leu)
|
|
|
NM_000548.5(TSC2):c.5157A>C (p.Ala1719=)
|
rs1555440217
|
|
NM_000548.5(TSC2):c.5160T>C (p.Asn1720=)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5161-2A>G
|
rs1114167468
|
|
NM_000548.5(TSC2):c.5161-3C>T
|
rs1410204953
|
|
NM_000548.5(TSC2):c.5161-5C>G
|
rs775534948
|
|
NM_000548.5(TSC2):c.5161-5C>T
|
rs775534948
|
|
NM_000548.5(TSC2):c.5163G>A (p.Met1721Ile)
|
|
|
NM_000548.5(TSC2):c.5166C>A (p.Ala1722=)
|
|
|
NM_000548.5(TSC2):c.5168C>T (p.Ser1723Leu)
|
|
|
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=)
|
rs1567131059
|
|
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.5173G>T (p.Val1725Leu)
|
|
|
NM_000548.5(TSC2):c.5175G>A (p.Val1725=)
|
rs886038357
|
|
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.5180A>G (p.His1727Arg)
|
rs1596460080
|
|
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.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.518C>T (p.Ser173Phe)
|
rs773662047
|
|
NM_000548.5(TSC2):c.5191A>C (p.Asn1731His)
|
rs1555440500
|
|
NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys)
|
rs753336580
|
|
NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)
|
rs759007975
|
|
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
|
|
|
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197_5211del (p.Thr1733_Pro1737del)
|
rs1555440518
|
|
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.5204T>G (p.Ile1735Ser)
|
rs786203769
|
|
NM_000548.5(TSC2):c.5207A>G (p.Tyr1736Cys)
|
|
|
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.5217G>A (p.Lys1739=)
|
rs1596460659
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5221A>T (p.Ile1741Phe)
|
|
|
NM_000548.5(TSC2):c.5222T>C (p.Ile1741Thr)
|
rs935521633
|
|
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.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
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.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5238_5255dup (p.His1746_Arg1751dup)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5239A>G (p.Ile1747Val)
|
|
|
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.5243A>C (p.Lys1748Thr)
|
|
|
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)
|
rs1555440785
|
|
NM_000548.5(TSC2):c.5247G>A (p.Arg1749=)
|
rs2151632398
|
|
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=)
|
rs370353005
|
|
NM_000548.5(TSC2):c.5253C>G (p.Arg1751=)
|
rs1567132521
|
|
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>C (p.Gln1752Pro)
|
|
|
NM_000548.5(TSC2):c.5257C>T (p.Arg1753Trp)
|
rs756358402
|
|
NM_000548.5(TSC2):c.5259+1G>A
|
|
|
NM_000548.5(TSC2):c.5259+2_5259+28del
|
rs759520580
|
|
NM_000548.5(TSC2):c.5259+2_5259+28dup
|
rs767792701
|
|
NM_000548.5(TSC2):c.5260-1G>A
|
rs1057518103
|
|
NM_000548.5(TSC2):c.5260-3C>T
|
|
|
NM_000548.5(TSC2):c.5260-7C>G
|
rs1596462958
|
|
NM_000548.5(TSC2):c.5260-9_5279del
|
rs967037646
|
|
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)
|
rs762320484
|
|
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=)
|
rs397515318
|
|
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>T (p.Glu1756Ter)
|
|
|
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.5272G>C (p.Ala1758Pro)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5273C>T (p.Ala1758Val)
|
rs547597044
|
|
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.5278T>C (p.Tyr1760His)
|
rs2151638289
|
|
NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser)
|
rs1261020269
|
|
NM_000548.5(TSC2):c.5280C>T (p.Tyr1760=)
|
rs1555441203
|
|
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His)
|
|
|
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=)
|
rs757204634
|
|
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=)
|
rs769507440
|
|
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.5295A>C (p.Leu1765=)
|
|
|
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)
|
rs748936673
|
|
NM_000548.5(TSC2):c.5299C>T (p.Leu1767=)
|
rs1051758
|
|
NM_000548.5(TSC2):c.52C>T (p.Leu18=)
|
rs1596234078
|
|
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)
|
rs886051798
|
|
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.5309C>T (p.Pro1770Leu)
|
rs771357054
|
|
NM_000548.5(TSC2):c.530T>G (p.Leu177Arg)
|
|
|
NM_000548.5(TSC2):c.5313G>C (p.Pro1771=)
|
rs765607686
|
|
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=)
|
rs2151639594
|
|
NM_000548.5(TSC2):c.5316C>T (p.Ser1772=)
|
|
|
NM_000548.5(TSC2):c.5317C>A (p.His1773Asn)
|
rs1030998097
|
|
NM_000548.5(TSC2):c.5318A>T (p.His1773Leu)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5320A>C (p.Ser1774Arg)
|
|
|
NM_000548.5(TSC2):c.5321G>T (p.Ser1774Ile)
|
|
|
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=)
|
rs751622894
|
|
NM_000548.5(TSC2):c.5325A>C (p.Lys1775Asn)
|
|
|
NM_000548.5(TSC2):c.5328C>A (p.Ala1776=)
|
|
|
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.5335C>G (p.Gln1779Glu)
|
|
|
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.5340T>C (p.Thr1780=)
|
rs1455248686
|
|
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)
|
rs878854119
|
|
NM_000548.5(TSC2):c.5343A>C (p.Pro1781=)
|
|
|
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.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.5348A>C (p.Glu1783Ala)
|
|
|
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.5352C>A (p.Pro1784=)
|
rs1367848310
|
|
NM_000548.5(TSC2):c.5352C>T (p.Pro1784=)
|
rs1367848310
|
|
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>G (p.Pro1786=)
|
|
|
NM_000548.5(TSC2):c.535G>A (p.Val179Met)
|
rs777105764
|
|
NM_000548.5(TSC2):c.5361C>A (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe)
|
rs397515221
|
|
NM_000548.5(TSC2):c.5364T>A (p.Tyr1788Ter)
|
|
|
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>G (p.Val1790Gly)
|
rs1596464243
|
|
NM_000548.5(TSC2):c.536_537del (p.Val179fs)
|
|
|
NM_000548.5(TSC2):c.5370G>A (p.Val1790=)
|
rs762032752
|
|
NM_000548.5(TSC2):c.5372G>A (p.Gly1791Asp)
|
rs2091211512
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
NM_000548.5(TSC2):c.5375A>G (p.Gln1792Arg)
|
|
|
NM_000548.5(TSC2):c.5377C>A (p.Arg1793=)
|
|
|
NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)
|
rs1473538868
|
|
NM_000548.5(TSC2):c.537G>A (p.Val179=)
|
rs2151059968
|
|
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)
|
rs137854335
|
|
NM_000548.5(TSC2):c.5381A>C (p.Lys1794Thr)
|
|
|
NM_000548.5(TSC2):c.5386C>G (p.Leu1796Val)
|
|
|
NM_000548.5(TSC2):c.5390T>G (p.Ile1797Ser)
|
|
|
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.5392T>A (p.Ser1798Thr)
|
|
|
NM_000548.5(TSC2):c.5393C>T (p.Ser1798Phe)
|
rs2091216208
|
|
NM_000548.5(TSC2):c.5394C>G (p.Ser1798=)
|
|
|
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del)
|
rs2151642647
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397G>T (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5398G>A (p.Val1800Met)
|
|
|
NM_000548.5(TSC2):c.539T>A (p.Leu180Gln)
|
rs1567403610
|
|
NM_000548.5(TSC2):c.5400G>A (p.Val1800=)
|
rs777327091
|
|
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.5404G>A (p.Asp1802Asn)
|
rs1596464614
|
|
NM_000548.5(TSC2):c.5404G>T (p.Asp1802Tyr)
|
|
|
NM_000548.5(TSC2):c.5405A>C (p.Asp1802Ala)
|
|
|
NM_000548.5(TSC2):c.5407T>C (p.Phe1803Leu)
|
|
|
NM_000548.5(TSC2):c.5408T>C (p.Phe1803Ser)
|
rs2151643160
|
|
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=)
|
rs770270816
|
|
NM_000548.5(TSC2):c.5410A>G (p.Thr1804Ala)
|
|
|
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>T (p.Glu1805Ter)
|
|
|
NM_000548.5(TSC2):c.5415G>C (p.Glu1805Asp)
|
rs982803529
|
|
NM_000548.5(TSC2):c.5417T>G (p.Phe1806Cys)
|
|
|
NM_000548.5(TSC2):c.5421G>A (p.Val1807=)
|
rs1596464773
|
|
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg)
|
rs1567135442
|
|
NM_000548.5(TSC2):c.5422T>C (p.Ter1808Arg)
|
|
|
NM_000548.5(TSC2):c.542T>C (p.Val181Ala)
|
|
|
NM_000548.5(TSC2):c.549G>C (p.Leu183Phe)
|
rs1415519717
|
|
NM_000548.5(TSC2):c.552C>G (p.Val184=)
|
|
|
NM_000548.5(TSC2):c.559A>C (p.Asn187His)
|
|
|
NM_000548.5(TSC2):c.563G>A (p.Ser188Asn)
|
|
|
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.571C>G (p.Leu191Val)
|
rs1555498201
|
|
NM_000548.5(TSC2):c.573C>G (p.Leu191=)
|
rs397515059
|
|
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
|
|
|
NM_000548.5(TSC2):c.581A>G (p.Tyr194Cys)
|
rs1555498219
|
|
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.586G>T (p.Ala196Ser)
|
|
|
NM_000548.5(TSC2):c.588A>G (p.Ala196=)
|
|
|
NM_000548.5(TSC2):c.58G>A (p.Gly20Arg)
|
rs1596234105
|
|
NM_000548.5(TSC2):c.594G>A (p.Met198Ile)
|
rs1452242351
|
|
NM_000548.5(TSC2):c.599+2T>C
|
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
NM_000548.5(TSC2):c.599A>G (p.Gln200Arg)
|
rs2085677930
|
|
NM_000548.5(TSC2):c.600-4G>T
|
rs976201466
|
|
NM_000548.5(TSC2):c.600-5T>C
|
rs779176291
|
|
NM_000548.5(TSC2):c.600G>C (p.Gln200His)
|
rs1596275209
|
|
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.609T>C (p.Cys203=)
|
rs1596275256
|
|
NM_000548.5(TSC2):c.60A>C (p.Gly20=)
|
rs1060504108
|
|
NM_000548.5(TSC2):c.610C>T (p.Leu204=)
|
rs1439997904
|
|
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>C (p.Leu205=)
|
rs1596275291
|
|
NM_000548.5(TSC2):c.622C>A (p.Arg208=)
|
rs374410454
|
|
NM_000548.5(TSC2):c.624G>T (p.Arg208=)
|
|
|
NM_000548.5(TSC2):c.629C>A (p.Ala210Glu)
|
|
|
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.63G>A (p.Leu21=)
|
|
|
NM_000548.5(TSC2):c.648+5G>A
|
rs2085796888
|
|
NM_000548.5(TSC2):c.649-13C>T
|
rs1290261668
|
|
NM_000548.5(TSC2):c.649G>A (p.Val217Ile)
|
rs1567407896
|
|
NM_000548.5(TSC2):c.654C>T (p.Ser218=)
|
rs1353074849
|
|
NM_000548.5(TSC2):c.655C>G (p.Leu219Val)
|
rs369046625
|
|
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>A (p.Ala224Asp)
|
|
|
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.680_682del (p.Cys227del)
|
rs2151078439
|
|
NM_000548.5(TSC2):c.683A>G (p.Tyr228Cys)
|
rs2085882405
|
|
NM_000548.5(TSC2):c.684C>T (p.Tyr228=)
|
rs397515034
|
|
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.689G>A (p.Cys230Tyr)
|
|
|
NM_000548.5(TSC2):c.690C>T (p.Cys230=)
|
|
|
NM_000548.5(TSC2):c.695C>G (p.Pro232Arg)
|
|
|
NM_000548.5(TSC2):c.696G>T (p.Pro232=)
|
|
|
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.704G>C (p.Ser235Thr)
|
rs397514957
|
|
NM_000548.5(TSC2):c.706C>G (p.Leu236Val)
|
|
|
NM_000548.5(TSC2):c.706dup (p.Leu236fs)
|
|
|
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)
|
rs1596278377
|
|
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.710C>G (p.Pro237Arg)
|
rs139060277
|
|
NM_000548.5(TSC2):c.712C>G (p.Leu238Val)
|
|
|
NM_000548.5(TSC2):c.713T>G (p.Leu238Arg)
|
|
|
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)
|
rs778544723
|
|
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.717C>T (p.Phe239=)
|
rs1567408727
|
|
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.71C>G (p.Pro24Arg)
|
|
|
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.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.729C>T (p.Leu243=)
|
rs45473698
|
|
NM_000548.5(TSC2):c.733C>G (p.Arg245Gly)
|
rs375574283
|
|
NM_000548.5(TSC2):c.734G>C (p.Arg245Pro)
|
|
|
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.748A>G (p.Lys250Glu)
|
rs2085894886
|
|
NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)
|
rs759867905
|
|
NM_000548.5(TSC2):c.751G>A (p.Glu251Lys)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.751G>T (p.Glu251Ter)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.753G>A (p.Glu251=)
|
rs876660338
|
|
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.774+4G>A
|
rs1244859914
|
|
NM_000548.5(TSC2):c.775-2A>G
|
|
|
NM_000548.5(TSC2):c.775-5C>G
|
rs181827303
|
|
NM_000548.5(TSC2):c.778A>T (p.Met260Leu)
|
rs2085953921
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.786C>A (p.Asn262Lys)
|
rs1485087555
|
|
NM_000548.5(TSC2):c.792T>C (p.Leu264=)
|
|
|
NM_000548.5(TSC2):c.793G>T (p.Gly265Cys)
|
|
|
NM_000548.5(TSC2):c.794G>T (p.Gly265Val)
|
rs1188591008
|
|
NM_000548.5(TSC2):c.801C>T (p.His267=)
|
|
|
NM_000548.5(TSC2):c.803T>G (p.Leu268Arg)
|
rs2085959207
|
|
NM_000548.5(TSC2):c.805G>A (p.Gly269Ser)
|
rs1596280654
|
|
NM_000548.5(TSC2):c.808C>T (p.His270Tyr)
|
|
|
NM_000548.5(TSC2):c.810C>T (p.His270=)
|
rs1596280678
|
|
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)
|
rs1555499071
|
|
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.816C>G (p.Ala272=)
|
rs917246659
|
|
NM_000548.5(TSC2):c.81T>A (p.Asn27Lys)
|
|
|
NM_000548.5(TSC2):c.820T>A (p.Tyr274Asn)
|
rs367642937
|
|
NM_000548.5(TSC2):c.820T>G (p.Tyr274Asp)
|
rs367642937
|
|
NM_000548.5(TSC2):c.823A>G (p.Asn275Asp)
|
|
|
NM_000548.5(TSC2):c.825C>T (p.Asn275=)
|
|
|
NM_000548.5(TSC2):c.826A>C (p.Met276Leu)
|
|
|
NM_000548.5(TSC2):c.829T>G (p.Cys277Gly)
|
|
|
NM_000548.5(TSC2):c.833A>G (p.His278Arg)
|
rs397515266
|
|
NM_000548.5(TSC2):c.839T>A (p.Met280Lys)
|
|
|
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
|
|
|
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)
|
rs587778734
|
|
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)
|
rs1596280931
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.848+2T>A
|
|
|
NM_000548.5(TSC2):c.848+5G>A
|
rs1370989559
|
|
NM_000548.5(TSC2):c.848+5G>T
|
rs1370989559
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-3T>C
|
rs45489591
|
|
NM_000548.5(TSC2):c.849A>C (p.Arg283Ser)
|
rs1596288325
|
|
NM_000548.5(TSC2):c.850G>A (p.Ala284Thr)
|
|
|
NM_000548.5(TSC2):c.852C>T (p.Ala284=)
|
rs1555499631
|
|
NM_000548.5(TSC2):c.854A>G (p.Tyr285Cys)
|
|
|
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)
|
rs794726983
|
|
NM_000548.5(TSC2):c.856A>T (p.Met286Leu)
|
|
|
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)
|
rs397515300
|
|
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.867G>C (p.Ala289=)
|
rs375163125
|
|
NM_000548.5(TSC2):c.867G>T (p.Ala289=)
|
rs375163125
|
|
NM_000548.5(TSC2):c.870C>T (p.Pro290=)
|
rs1166082765
|
|
NM_000548.5(TSC2):c.879A>T (p.Arg293Ser)
|
|
|
NM_000548.5(TSC2):c.87G>A (p.Arg29=)
|
rs1010489256
|
|
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.891T>G (p.Phe297Leu)
|
|
|
NM_000548.5(TSC2):c.897G>A (p.Val299=)
|
rs1382139812
|
|
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)
|
rs1425163522
|
|
NM_000548.5(TSC2):c.901A>G (p.Met301Val)
|
rs1356498946
|
|
NM_000548.5(TSC2):c.905C>T (p.Ala302Val)
|
|
|
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.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000548.5(TSC2):c.919C>T (p.His307Tyr)
|
rs1279645051
|
|
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)
|
rs201144475
|
|
NM_000548.5(TSC2):c.923G>T (p.Arg308Leu)
|
|
|
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.927C>A (p.Leu309=)
|
|
|
NM_000548.5(TSC2):c.927C>T (p.Leu309=)
|
rs79786059
|
|
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.931T>A (p.Ser311Thr)
|
rs775590764
|
|
NM_000548.5(TSC2):c.931T>C (p.Ser311Pro)
|
|
|
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.936C>G (p.Leu312=)
|
rs2086239603
|
|
NM_000548.5(TSC2):c.938G>A (p.Arg313Lys)
|
|
|
NM_000548.5(TSC2):c.941A>G (p.Asn314Ser)
|
rs878854123
|
|
NM_000548.5(TSC2):c.943T>G (p.Ser315Ala)
|
|
|
NM_000548.5(TSC2):c.944C>G (p.Ser315Trp)
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NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)
|
rs751490043
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NM_000548.5(TSC2):c.94G>A (p.Glu32Lys)
|
rs2084679567
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NM_000548.5(TSC2):c.94G>C (p.Glu32Gln)
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NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)
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rs1596289105
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NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)
|
rs1060500970
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NM_000548.5(TSC2):c.955G>A (p.Val319Met)
|
rs1432086775
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NM_000548.5(TSC2):c.960G>A (p.Leu320=)
|
rs1131825
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NM_000548.5(TSC2):c.960G>T (p.Leu320Phe)
|
rs1131825
|
|
NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)
|
rs2151109772
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NM_000548.5(TSC2):c.968T>G (p.Phe323Cys)
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NM_000548.5(TSC2):c.96G>A (p.Glu32=)
|
rs1567380772
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
NM_000548.5(TSC2):c.975+2T>C
|
rs2151110209
|
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NM_000548.5(TSC2):c.975+5G>A
|
|
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NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)
|
rs1352220583
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NM_000548.5(TSC2):c.993C>G (p.Asn331Lys)
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|
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NM_000548.5(TSC2):c.994G>C (p.Glu332Gln)
|
rs911600402
|
|
NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)
|
|
|
NM_000548.5(TSC2):c.995A>T (p.Glu332Val)
|
|
|
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.996G>T (p.Glu332Asp)
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|
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NM_000548.5(TSC2):c.997G>A (p.Val333Met)
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rs1336741146
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NM_000548.5(TSC2):c.998T>C (p.Val333Ala)
|
rs781423177
|
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